bxgd_id Disease_name Disease_id ICD_10_CM Type MeSH_codes Disease_Class_name Semantic_Type hpoClassId human_phenotype_ontology_term doClassId doClassName umlsSemanticTypeId umlsSemanticTypeName N_genes BXGD000001 Abdomen, Acute C0000727 R10.0 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 2 BXGD000002 Abdomen distended C0000731 phenotype C06 Digestive System Diseases Finding HP:0025031 Abnormality of the digestive system T033 Finding 103 BXGD000003 Abdominal mass C0000734 phenotype C06 Digestive System Diseases Finding HP:0025031 Abnormality of the digestive system T033 Finding 2 BXGD000004 Abdominal Neoplasms C0000735 group C04 Neoplasms Neoplastic Process T191 Neoplastic Process 13 BXGD000005 Abdominal Pain C0000737 R10.9 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025031;HP:0025142 Abnormality of the digestive system; Constitutional symptom T184 Sign or Symptom 302 BXGD000006 Abetalipoproteinemia C0000744 E78.6 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 65 BXGD000007 Congenital Abnormality C0000768 Q89.9 group C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 1098 BXGD000008 Abnormalities, Drug-Induced C0000771 group C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 5 BXGD000009 Multiple congenital anomalies C0000772 Q89.7 group C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 251 BXGD000010 Spontaneous abortion C0000786 O03.9 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Pathologic Function HP:0001197 Abnormality of prenatal development or birth T046 Pathologic Function 188 BXGD000011 Abortion, Habitual C0000809 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 7 BXGD000012 Abortion, Tubal C0000822 O00.1 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Pathologic Function T046 Pathologic Function 109 BXGD000013 Abruptio Placentae C0000832 O45.90 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Pathologic Function HP:0001197 Abnormality of prenatal development or birth DOID:7 disease of anatomical entity T046 Pathologic Function 12 BXGD000014 Abscess C0000833 phenotype C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 96 BXGD000015 Agenesis C0000846 disease Congenital Abnormality T019 Congenital Abnormality 161 BXGD000016 Acanthamoeba Keratitis C0000880 disease C01;C11 Infections; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 22 BXGD000017 Acantholysis C0000887 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Pathologic Function HP:0001574 Abnormality of the integument T046 Pathologic Function 11 BXGD000018 Acanthosis Nigricans C0000889 L83 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 64 BXGD000019 Accidental Falls C0000921 W19 phenotype Injury or Poisoning T037 Injury or Poisoning 22 BXGD000020 Achlorhydria C0001075 K31.83 phenotype C06;C18 Digestive System Diseases; Nutritional and Metabolic Diseases Pathologic Function T046 Pathologic Function 5 BXGD000021 Achondrogenesis C0001079 Q77.0 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 4 BXGD000022 Achondroplasia C0001080 Q77.4 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 46 BXGD000023 Acidosis C0001122 E87.2 phenotype C18 Nutritional and Metabolic Diseases Pathologic Function HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667 disease of metabolism T046 Pathologic Function 28 BXGD000024 Acidosis, Lactic C0001125 E87.2 phenotype C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667 disease of metabolism T047 Disease or Syndrome 209 BXGD000025 Renal tubular acidosis C0001126 N25.89 phenotype C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 52 BXGD000026 Acidosis, Respiratory C0001127 E87.2 phenotype C18;C08 Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667 disease of metabolism T047 Disease or Syndrome 13 BXGD000027 Acinetobacter Infections C0001139 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD000028 Acne Vulgaris C0001144 L70.0 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 94 BXGD000029 Acquired Immunodeficiency Syndrome C0001175 B20 group C01;C20 Infections; Immune System Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 243 BXGD000030 Apert syndrome C0001193 Q87.0 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T019 Congenital Abnormality 20 BXGD000031 Acrodermatitis C0001197 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD000032 Acrokeratosis C0001202 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 3 BXGD000033 Acromegaly C0001206 disease C05;C10;C19 Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 138 BXGD000034 ACTH Syndrome, Ectopic C0001231 E24.3 disease C04 Neoplasms Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD000035 Actinobacillus Infections C0001249 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 1 BXGD000036 Actinomycosis C0001261 A42 group C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 1 BXGD000037 Acute alcoholic liver disease C0001306 disease C06;C25;F03 Digestive System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 35 BXGD000038 Acute and subacute liver necrosis (disorder) C0001308 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD000039 Acute bronchiolitis C0001311 J21 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD000040 Herpetic Acute Necrotizing Encephalitis C0001338 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD000041 Acute pancreatitis C0001339 K85 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 435 BXGD000042 Acute periodontitis C0001342 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 130 BXGD000043 Acute pharyngitis C0001344 J02.9 disease C01;C08;C07;C09 Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD000044 Acute-Phase Reaction C0001349 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 24 BXGD000045 Acute tonsillitis C0001361 J03.90 disease C01;C08;C07;C09 Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD000046 Acute vascular insufficiency of intestine (disorder) C0001363 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD000047 Massive Hepatic Necrosis C0001364 phenotype C06 Digestive System Diseases Pathologic Function T046 Pathologic Function 2 BXGD000048 Addison Disease C0001403 E27.1 disease C20;C19 Immune System Diseases; Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 111 BXGD000049 Adenitis C0001416 phenotype C15 Hemic and Lymphatic Diseases Sign or Symptom T184 Sign or Symptom 9 BXGD000050 Adenocarcinoma C0001418 group C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2235 BXGD000051 Papillary adenocarcinoma C0001420 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD000052 Adenofibroma C0001422 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD000053 Adenolymphoma C0001429 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 21 BXGD000054 Adenoma C0001430 group C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1183 BXGD000055 Adenosarcoma C0001442 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD000056 Adenovirus Infections C0001486 B34.0 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 145 BXGD000057 Postoperative adhesion C0001510 phenotype C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality T020 Acquired Abnormality 9 BXGD000058 Tissue Adhesions C0001511 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 3 BXGD000059 Adiposis Dolorosa C0001529 E88.2 disease C18;C17 Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD000060 Adjustment Disorders C0001546 F43.20 group F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 9 BXGD000061 Adnexal Diseases C0001576 group C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 3 BXGD000062 Adrenal Cortex Diseases C0001614 group C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD000063 Tumors of Adrenal Cortex C0001618 group C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0002664 Abnormality of the endocrine system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 74 BXGD000064 Adrenal Gland Diseases C0001621 E27.9 group C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD000065 Adrenal Gland Hyperfunction C0001622 phenotype C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 50 BXGD000066 Adrenal gland hypofunction C0001623 phenotype C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 90 BXGD000067 Adrenal Gland Neoplasms C0001624 group C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0002664 Abnormality of the endocrine system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 94 BXGD000068 Congenital adrenal hyperplasia C0001627 E25.0 disease C16;C18;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 87 BXGD000069 Adrenal Rest Tumor C0001630 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD000070 Adult Antisocial Behavior C0001676 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD000071 Affective Disorders, Psychotic C0001723 F39 group F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 17 BXGD000072 Affective Symptoms C0001726 phenotype F01 Behavior and Behavior Mechanisms Sign or Symptom T184 Sign or Symptom 23 BXGD000073 Afibrinogenemia C0001733 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD000074 African swine fever C0001752 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD000075 Agammaglobulinemia C0001768 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype DOID:7 disease of anatomical entity T047 Disease or Syndrome 43 BXGD000076 Osteoporosis, Age-Related C0001787 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 89 BXGD000077 Aggressive behavior C0001807 phenotype F01 Behavior and Behavior Mechanisms Individual Behavior HP:0000707 Abnormality of the nervous system T055 Individual Behavior 176 BXGD000078 Primary Myelofibrosis C0001815 D47.4 disease C15 Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 282 BXGD000079 Agnosia C0001816 R48.1 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 17 BXGD000080 Agoraphobia C0001818 F40.0 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 29 BXGD000081 Agranulocytosis C0001824 D70 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 55 BXGD000082 Agraphia C0001825 R48.8 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 3 BXGD000083 Agricultural Workers' Diseases C0001828 group C24 Occupational Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD000084 AIDS Dementia Complex C0001849 disease C01;C20;C10;F03 Infections; Immune System Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 45 BXGD000085 AIDS related complex C0001857 B20 disease C01;C20 Infections; Immune System Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 100 BXGD000086 Airway Obstruction C0001883 group C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 110 BXGD000087 Akinetic Mutism C0001889 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD000088 Akinetic Petit Mal C0001890 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD000089 Albinism C0001916 E70.30 disease C16;C18;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 46 BXGD000090 Albuminuria C0001925 R80.9 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system DOID:7 disease of anatomical entity T033 Finding 76 BXGD000091 Alcohol consumption C0001948 phenotype F01 Behavior and Behavior Mechanisms Individual Behavior T055 Individual Behavior 210 BXGD000092 Alcohol Use Disorder C0001956 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 218 BXGD000093 Alcohol Withdrawal Delirium C0001957 disease C10;C25;F03 Nervous System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 23 BXGD000094 Alcoholic Intoxication C0001969 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 52 BXGD000095 Alcoholic Intoxication, Chronic C0001973 F10.2 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 577 BXGD000096 Aleutian Mink Disease C0002016 disease C01;C11;C20;C22 Infections; Eye Diseases; Immune System Diseases; Animal Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 2 BXGD000097 Alexia C0002018 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 9 BXGD000098 Alexithymia C0002020 phenotype F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 39 BXGD000099 Alkalosis C0002063 E87.3 phenotype C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 25 BXGD000100 Alkalosis, Respiratory C0002064 E87.3 phenotype C18;C08 Nutritional and Metabolic Diseases; Respiratory Tract Diseases Pathologic Function HP:0001939 Abnormality of metabolism/homeostasis T046 Pathologic Function 6 BXGD000101 Alkaptonuria C0002066 E70.29 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 13 BXGD000102 Atopic rhinitis C0002103 disease C08;C20;C09 Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD000103 Allogenic disease C0002136 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD000104 Alloxan Diabetes C0002152 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease T050 Experimental Model of Disease 112 BXGD000105 Alopecia C0002170 L65.9 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 491 BXGD000106 Alopecia Areata C0002171 L63.9 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 114 BXGD000107 alpha-Thalassemia C0002312 D56.0 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 86 BXGD000108 Altitude Sickness C0002351 T70.29 phenotype C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD000109 Alveolar Bone Loss C0002382 disease C05;C07 Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 101 BXGD000110 Extrinsic allergic alveolitis C0002390 J67.9 group C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 65 BXGD000111 Alzheimer's Disease C0002395 G30 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3397 BXGD000112 Amblyopia C0002418 H53.00 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 85 BXGD000113 Amebiasis C0002438 A06.9 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 37 BXGD000114 Amelia C0002447 Q73.0 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 2 BXGD000115 Ameloblastoma C0002448 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 174 BXGD000116 Amelogenesis Imperfecta C0002452 K00.5 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality HP:0000152;HP:0000924;HP:0003549 Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 61 BXGD000117 Amenorrhea C0002453 N91.2 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0000119;HP:0000818 Abnormality of the genitourinary system; Abnormality of the endocrine system DOID:7 disease of anatomical entity T033 Finding 37 BXGD000118 Amino Acid Metabolism, Inborn Errors C0002514 E72.9 group C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 20 BXGD000119 Amnesia C0002622 R41.3 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 173 BXGD000120 Post-traumatic amnesia C0002623 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 9 BXGD000121 Retrograde amnesia C0002624 R41.2 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 5 BXGD000122 Amnestic Disorder C0002625 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 6 BXGD000123 Infection of amniotic cavity C0002631 disease C16;C13 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 2 BXGD000124 Amputation Stumps C0002690 disease Acquired Abnormality T020 Acquired Abnormality 11 BXGD000125 Amyloidosis C0002726 E85 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667 disease of metabolism T047 Disease or Syndrome 694 BXGD000126 Oppenheim's Disease C0002735 disease C10 Nervous System Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 2 BXGD000127 Amyotrophic Lateral Sclerosis C0002736 G12.21 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1114 BXGD000128 Congenital Pain Insensitivity C0002768 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 14 BXGD000129 anaphylaxis C0002792 phenotype C20 Immune System Diseases Disease or Syndrome HP:0002715 Abnormality of the immune system T047 Disease or Syndrome 180 BXGD000130 Anaplasia C0002793 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 538 BXGD000131 Bovine Anaplasmosis C0002797 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD000132 Anemia C0002871 D64.9 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 847 BXGD000133 Anemia of chronic disease C0002873 phenotype C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 100 BXGD000134 Aplastic Anemia C0002874 D61.9 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 238 BXGD000135 Cooley's anemia C0002875 D56.1 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 144 BXGD000136 Congenital dyserythropoietic anemia C0002876 D64.4 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 24 BXGD000137 Anemia, Hemolytic C0002878 D55-D59 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 154 BXGD000138 Anemia, Hemolytic, Acquired C0002879 D59 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD000139 Autoimmune hemolytic anemia C0002880 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 81 BXGD000140 Anemia, Hemolytic, Congenital C0002881 D58.9 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 27 BXGD000141 Anemia, Hemolytic, Congenital Nonspherocytic C0002882 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD000142 Anemia, Hemolytic, Idiopathic Acquired C0002883 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD000143 Hypochromic anemia C0002884 D50 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD000144 Anemia, Macrocytic C0002886 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 51 BXGD000145 Anemia, Megaloblastic C0002888 D53.1 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 26 BXGD000146 Anemia, Microangiopathic C0002889 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD000147 Leukoerythroblastic Anemia C0002890 D61.82 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD000148 Anemia, Neonatal C0002891 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD000149 Anemia, Pernicious C0002892 D51.0 disease C18;C15 Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 16 BXGD000150 Refractory anemias C0002893 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 340 BXGD000151 Refractory anaemia with excess blasts C0002894 D46.2 disease C15 Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 49 BXGD000152 Anemia, Sickle Cell C0002895 D57.1 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 434 BXGD000153 Sideroblastic anemia C0002896 D64.3 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 22 BXGD000154 Anencephaly C0002902 Q00.0 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T019 Congenital Abnormality 59 BXGD000155 Aneuploidy C0002938 phenotype C23 Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 5 BXGD000156 Aneurysm C0002940 I72.9 disease C14 Cardiovascular Diseases Pathologic Function HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T046 Pathologic Function 22 BXGD000157 Aneurysm, Dissecting C0002949 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 33 BXGD000158 Anger C0002957 phenotype F01 Behavior and Behavior Mechanisms Mental Process T041 Mental Process 4 BXGD000159 Angiectasis C0002959 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD000160 Angina Pectoris C0002962 I20.9 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Sign or Symptom HP:0001626 Abnormality of the cardiovascular system T184 Sign or Symptom 139 BXGD000161 Angina Pectoris, Variant C0002963 I20.1 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 26 BXGD000162 Angina, Unstable C0002965 I20.0 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 129 BXGD000163 Angioid Streaks C0002982 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD000164 Angiokeratoma C0002985 disease C04 Neoplasms Neoplastic Process HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD000165 Fabry Disease C0002986 E75.21 disease C16;C18;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 108 BXGD000166 Epithelioid hemangioma of skin C0002989 disease C17;C15 Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD000167 Cutaneous Fibrous Histiocytoma C0002991 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 42 BXGD000168 Angiomatosis C0002992 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD000169 Angioedema C0002994 T78.3 phenotype C17;C20;C14 Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function HP:0001939;HP:0001574;HP:0001626 Abnormality of metabolism/homeostasis; Abnormality of the integument; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T046 Pathologic Function 18 BXGD000170 Anhidrosis C0003028 L74.4 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 37 BXGD000171 Aniridia C0003076 Q13.1 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T019 Congenital Abnormality 83 BXGD000172 Aniseikonia C0003078 H52.32 phenotype C11 Eye Diseases Sign or Symptom DOID:7 disease of anatomical entity T184 Sign or Symptom 2 BXGD000173 Anisometropia C0003081 H52.31 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD000174 Ankylosing spondylitis and other inflammatory spondylopathies C0003089 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD000175 Ankylosis C0003090 M24.6 phenotype C05 Musculoskeletal Diseases Pathologic Function HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T046 Pathologic Function 15 BXGD000176 Anomia C0003113 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 8 BXGD000177 Anophthalmos C0003119 Q11.1 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 89 BXGD000178 Anorexia C0003123 R63.0 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 242 BXGD000179 Anorexia Nervosa C0003125 F50.0 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 202 BXGD000180 Anosmia C0003126 R43.0 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707;HP:0000152 Abnormality of the nervous system; Abnormality of head or neck T033 Finding 40 BXGD000181 Anovulation C0003128 phenotype C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 32 BXGD000182 Anoxemia C0003129 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 33 BXGD000183 Anoxia C0003130 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 287 BXGD000184 Anoxic Encephalopathy C0003132 phenotype C10 Nervous System Diseases Pathologic Function DOID:7 disease of anatomical entity T046 Pathologic Function 2 BXGD000185 Anthracosilicosis C0003164 J60 disease C08;C24 Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD000186 Anthracosis C0003165 J60 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 65 BXGD000187 Anthrax disease C0003175 A22.9 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 66 BXGD000188 Cutaneous anthrax C0003177 A22.0 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 3 BXGD000189 Antibody Deficiency Syndrome C0003257 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 21 BXGD000190 Antisocial Personality Disorder C0003431 F60.2 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 63 BXGD000191 Anuria C0003460 phenotype C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD000192 Anus Neoplasms C0003463 group C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD000193 Anus, Imperforate C0003466 Q42.3 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality HP:0025031 Abnormality of the digestive system DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T019 Congenital Abnormality 139 BXGD000194 Anxiety C0003467 F41.1 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1048 BXGD000195 Anxiety Disorders C0003469 F41.9 group F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 840 BXGD000196 Separation Anxiety Disorder C0003477 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 13 BXGD000197 Aortic Aneurysm C0003486 I71.9 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 278 BXGD000198 Aortic coarctation C0003492 Q25.1 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 88 BXGD000199 Aortic Diseases C0003493 group C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 43 BXGD000200 Aortic Rupture C0003496 disease C14;C26 Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 22 BXGD000201 Supravalvular aortic stenosis C0003499 Q25.3 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 23 BXGD000202 Aortic Valve Insufficiency C0003504 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 377 BXGD000203 Aortic Valve Stenosis C0003507 Q25.1 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 234 BXGD000204 Aortitis C0003509 I77.6 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD000205 Aortitis Syndrome C0003510 disease C17;C14 Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 2 BXGD000206 Aortopulmonary Septal Defect C0003516 Q21.4 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 1 BXGD000207 Aphakia C0003534 H27.0 disease C11 Eye Diseases Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 5 BXGD000208 Aphasia C0003537 R47.01 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 86 BXGD000209 Aphasia, Acquired C0003546 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD000210 Broca Aphasia C0003550 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 11 BXGD000211 Apnea C0003578 R06.81 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom HP:0002086 Abnormality of the respiratory system T184 Sign or Symptom 262 BXGD000212 Appendicitis C0003615 K37 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 83 BXGD000213 Appetite Disorders C0003621 group F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD000214 Apraxias C0003635 R48.2 group C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 71 BXGD000215 Arachnodactyly C0003706 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924;HP:0001507 Abnormality of limbs; Abnormality of the skeletal system; Growth abnormality T019 Congenital Abnormality 102 BXGD000216 Arachnoiditis C0003708 G03 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD000217 Arbovirus Infections C0003723 A94 group C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 8 BXGD000218 Arcus Senilis C0003742 H18.41 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD000219 Arenaviridae Infections C0003756 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD000220 Arnold Chiari Malformation C0003803 Q07.0 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 53 BXGD000221 Sertoli-Leydig cell tumor of ovary C0003810 disease C04;C13;C12;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD000222 Cardiac Arrhythmia C0003811 I49.9 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 559 BXGD000223 Arterial insufficiency C0003834 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD000224 Arterial Occlusive Diseases C0003838 group C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 35 BXGD000225 Arteriosclerosis C0003850 I70 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 2006 BXGD000226 Arteriosclerosis Obliterans C0003851 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 49 BXGD000227 Arteriovenous fistula C0003855 phenotype C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 93 BXGD000228 Congenital arteriovenous malformation C0003857 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 163 BXGD000229 Arteritis C0003860 I77.6 phenotype C14 Cardiovascular Diseases Pathologic Function HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T046 Pathologic Function 5 BXGD000230 Arthralgia C0003862 M25.5 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 248 BXGD000231 Arthritis C0003864 M19.90 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1072 BXGD000232 Arthritis, Adjuvant-Induced C0003865 disease C05 Musculoskeletal Diseases Experimental Model of Disease T050 Experimental Model of Disease 43 BXGD000233 Arthritis, Gouty C0003868 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 206 BXGD000234 Arthritis, Infectious C0003869 M00.9 group C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 33 BXGD000235 Arthritis, Psoriatic C0003872 L40.50 disease C17;C05 Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 450 BXGD000236 Rheumatoid Arthritis C0003873 M06.9 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 2723 BXGD000237 Arthritis, Viral C0003875 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD000238 Arthrogryposis C0003886 Q74.3 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0000924;HP:0003549;HP:0003011 Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T047 Disease or Syndrome 198 BXGD000239 Neurogenic arthropathy C0003892 M14.6 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD000240 Arthus Reaction C0003907 T78.41 disease C20 Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD000241 As If Personality C0003944 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD000242 Asbestosis C0003949 J61 disease C08;C24 Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 47 BXGD000243 Ascariasis C0003950 B77 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 3 BXGD000244 Ascites C0003962 R18.8 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 198 BXGD000245 Ascorbic Acid Deficiency C0003969 E54 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667 disease of metabolism T047 Disease or Syndrome 10 BXGD000246 Aspergillosis C0004030 B44.9 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 47 BXGD000247 Aspergillosis, Allergic Bronchopulmonary C0004031 B44.81 disease C01;C08;C20 Infections; Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 31 BXGD000248 Asphyxia C0004044 R09.01 phenotype C23;C26 Pathological Conditions, Signs and Symptoms; Wounds and Injuries Pathologic Function T046 Pathologic Function 3 BXGD000249 Asphyxia Neonatorum C0004045 P84 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 45 BXGD000250 aspirin intolerance C0004059 phenotype Sign or Symptom T184 Sign or Symptom 23 BXGD000251 Asthenia C0004093 R53.1 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 16 BXGD000252 Asthma C0004096 J45.90 disease C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome HP:0002715;HP:0002086 Abnormality of the immune system; Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 2096 BXGD000253 Asthma, Exercise-Induced C0004099 disease C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome HP:0002715;HP:0002086 Abnormality of the immune system; Abnormality of the respiratory system T047 Disease or Syndrome 8 BXGD000254 Astigmatism C0004106 H52.20 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 148 BXGD000255 Astrocytoma C0004114 disease C04 Neoplasms Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 985 BXGD000256 Ataxia C0004134 R27.0 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 868 BXGD000257 Ataxia Telangiectasia C0004135 disease C16;C18;C20;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 384 BXGD000258 Ataxias, Hereditary C0004138 G11.9 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 35 BXGD000259 Atelectasis C0004144 J98.11 phenotype C08 Respiratory Tract Diseases Pathologic Function HP:0002086 Abnormality of the respiratory system T046 Pathologic Function 62 BXGD000260 Atherosclerosis C0004153 I70 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 2044 BXGD000261 Athetosis C0004158 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 39 BXGD000262 Atrial Fibrillation C0004238 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 939 BXGD000263 Atrial Flutter C0004239 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function HP:0001626 Abnormality of the cardiovascular system T046 Pathologic Function 13 BXGD000264 Atrioventricular Block C0004245 I44.3 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 63 BXGD000265 Child attention deficit disorder C0004269 disease F03 Mental Disorders Disease or Syndrome T047 Disease or Syndrome 26 BXGD000266 Tooth Attrition C0004277 disease C07 Stomatognathic Diseases Acquired Abnormality T020 Acquired Abnormality 66 BXGD000267 Auditory Perceptual Disorders C0004310 group C23;C10;F03;C09;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD000268 Auriculo-Ventricular Dissociation C0004331 I45.89 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function HP:0001626 Abnormality of the cardiovascular system T046 Pathologic Function 4 BXGD000269 Autistic Disorder C0004352 F84.0 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1112 BXGD000270 Autoimmune Diseases C0004364 M30-M36 group C20 Immune System Diseases Disease or Syndrome HP:0002715 Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1758 BXGD000271 Autoimmune state C0004368 phenotype Pathologic Function HP:0002715 Abnormality of the immune system T046 Pathologic Function 70 BXGD000272 Autosome Abnormalities C0004403 group C23 Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 16 BXGD000273 Sarcoma, Avian C0004426 disease C04;C01;C22 Neoplasms; Infections; Animal Diseases Neoplastic Process; Experimental Model of Disease T191;T050 Neoplastic Process; Experimental Model of Disease 1 BXGD000274 Avoidant Personality Disorder C0004444 F60.6 phenotype F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 4 BXGD000275 Azoospermia C0004509 N46.0 disease C12 Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 254 BXGD000276 Melanoma, B16 C0004565 disease C04 Neoplasms Neoplastic Process; Experimental Model of Disease T191;T050 Neoplastic Process; Experimental Model of Disease 157 BXGD000277 Babesiosis C0004576 B60.0 disease C01;C22 Infections; Animal Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 11 BXGD000278 Back Pain C0004604 M54 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025142;HP:0000924 Constitutional symptom; Abnormality of the skeletal system T184 Sign or Symptom 110 BXGD000279 Nonproliferative diabetic retinopathy C0004606 disease C11;C19;C14 Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 41 BXGD000280 Retinopathy background C0004608 H35.00 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD000281 Bacteremia C0004610 R78.81 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 233 BXGD000282 Bacterial Infections C0004623 A49.9 group C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 616 BXGD000283 Pneumonia, Bacterial C0004626 J15.9 group C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 66 BXGD000284 Bacteriuria C0004659 R82.71 phenotype C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD000285 Bacteroides Infections C0004669 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD000286 Bagassosis C0004681 J67.1 disease C08;C24 Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD000287 Balkan Nephropathy C0004698 N15.0 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 34 BXGD000288 Balo's Concentric Sclerosis C0004712 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD000289 Barrett Esophagus C0004763 K22.70 disease C06;C04 Digestive System Diseases; Neoplasms Disease or Syndrome HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7 disease of anatomical entity T047 Disease or Syndrome 478 BXGD000290 Bartter Disease C0004775 E26.81 disease C13;C12;C19 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 47 BXGD000291 Basal Cell Nevus Syndrome C0004779 disease C16;C04;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 74 BXGD000292 Basal Ganglia Diseases C0004782 group C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 19 BXGD000293 Beckwith-Wiedemann Syndrome C0004903 Q87.3 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 107 BXGD000294 Behavior Disorders C0004930 F91.9 group F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 77 BXGD000295 Mental disorders C0004936 F99 group F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 789 BXGD000296 Behavioral Symptoms C0004941 group F01 Behavior and Behavior Mechanisms Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 45 BXGD000297 Behcet Syndrome C0004943 M35.2 disease C16;C11;C17;C07;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 502 BXGD000298 Bejel C0004945 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 2 BXGD000299 Benign neoplasm of colon C0004991 D12.6 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 1 BXGD000300 Benign Ovarian Neoplasm C0004997 D27 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 72 BXGD000301 Benign neoplasm of skin C0004998 group C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD000302 Benign prostatic hypertrophy C0005001 phenotype C12 Male Urogenital Diseases Pathologic Function HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T046 Pathologic Function 4 BXGD000303 Beriberi C0005122 E51.1 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 16 BXGD000304 Bernard-Soulier Syndrome C0005129 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 46 BXGD000305 Berry Aneurysm C0005136 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Pathologic Function T046 Pathologic Function 1 BXGD000306 Berylliosis C0005138 J63.2 disease C08;C24 Respiratory Tract Diseases; Occupational Diseases Injury or Poisoning DOID:7 disease of anatomical entity T037 Injury or Poisoning 11 BXGD000307 Besnoitiasis C0005146 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD000308 beta Thalassemia C0005283 D56.1 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 198 BXGD000309 Bile Duct Diseases C0005395 group C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD000310 Bile Duct Neoplasms C0005396 group C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD000311 Cholestasis, Extrahepatic C0005398 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 87 BXGD000312 Bile Reflux C0005403 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD000313 Biliary Atresia C0005411 Q44.2 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T019 Congenital Abnormality 184 BXGD000314 Biliary Tract Neoplasm C0005426 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 17 BXGD000315 Bipolar Disorder C0005586 F31 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1183 BXGD000316 Depression, Bipolar C0005587 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 116 BXGD000317 Birth Weight C0005612 phenotype C23 Pathological Conditions, Signs and Symptoms Organism Attribute T032 Organism Attribute 214 BXGD000318 Urinary Bladder Calculi (disorder) C0005683 N21.0 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD000319 Malignant neoplasm of urinary bladder C0005684 C67.9 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2113 BXGD000320 Urinary Bladder Diseases C0005686 N32.9 group C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 24 BXGD000321 Bladder Exstrophy C0005689 Q64.1 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0025031;HP:0000119 Abnormality of the digestive system; Abnormality of the genitourinary system DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T047 Disease or Syndrome 18 BXGD000322 Bladder neck obstruction C0005694 N32.0 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 67 BXGD000323 Bladder Neoplasm C0005695 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2130 BXGD000324 Neurogenic Urinary Bladder C0005697 disease C23;C13;C12;C10 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 43 BXGD000325 Blast Phase C0005699 disease C23;C04;C15 Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 299 BXGD000326 Blastomycosis C0005716 B40 disease C01;C17;C08 Infections; Skin and Connective Tissue Diseases; Respiratory Tract Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 5 BXGD000327 Oral paracoccidioidomycosis C0005723 disease C01;C07 Infections; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD000328 Blepharitis C0005741 H01.0 disease C11 Eye Diseases Disease or Syndrome HP:0002715;HP:0000152;HP:0000478 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 55 BXGD000329 Blepharochalasis C0005742 H02.3 disease C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome HP:0001939;HP:0000152 Abnormality of metabolism/homeostasis; Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD000330 Blepharophimosis C0005744 H02.52 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T019 Congenital Abnormality 106 BXGD000331 Blepharoptosis C0005745 H02.4 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 595 BXGD000332 Blepharospasm C0005747 G24.5 disease C11 Eye Diseases Disease or Syndrome HP:0000707;HP:0000152 Abnormality of the nervous system; Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 44 BXGD000333 Blind Loop Syndrome C0005750 K90.2 disease C06;C18 Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD000334 Congenital blindness C0005754 disease C23;C16;C13;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 16 BXGD000335 Bulla C0005758 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding T033 Finding 3 BXGD000336 Blood Coagulation Disorders C0005779 D68.9 group C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 267 BXGD000337 Blood Group Incompatibility C0005806 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD000338 Blood Platelet Disorders C0005818 group C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 59 BXGD000339 Blood Pressure C0005823 phenotype Organism Function T040 Organism Function 109 BXGD000340 Blood Sedimentation C0005833 phenotype Laboratory Procedure T059 Laboratory Procedure 7 BXGD000341 Blood urea nitrogen measurement C0005845 phenotype Laboratory Procedure T059 Laboratory Procedure 90 BXGD000342 Bloom Syndrome C0005859 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 155 BXGD000343 Bluetongue infection C0005866 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD000344 Blushing C0005874 phenotype F01 Behavior and Behavior Mechanisms Sign or Symptom HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system T184 Sign or Symptom 8 BXGD000345 Body Height C0005890 phenotype Organism Attribute T032 Organism Attribute 1903 BXGD000346 Body mass index procedure C0005893 phenotype Diagnostic Procedure T060 Diagnostic Procedure 88 BXGD000347 Body Rocking C0005899 phenotype F03 Mental Disorders Individual Behavior T055 Individual Behavior 3 BXGD000348 Body Temperature Changes C0005904 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0001939 Abnormality of metabolism/homeostasis T184 Sign or Symptom 6 BXGD000349 Body Weight C0005910 phenotype C23 Pathological Conditions, Signs and Symptoms Organism Attribute T032 Organism Attribute 57 BXGD000350 Bone Cysts C0005937 M85.4 disease C04;C05 Neoplasms; Musculoskeletal Diseases Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 35 BXGD000351 Bone Density C0005938 phenotype Clinical Attribute T201 Clinical Attribute 138 BXGD000352 Bone Diseases C0005940 M89.9 group C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 317 BXGD000353 Bone Diseases, Developmental C0005941 group C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 82 BXGD000354 Bone Diseases, Endocrine C0005942 group C05;C19 Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD000355 Metabolic Bone Disorder C0005944 group C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 66 BXGD000356 Bone Marrow Diseases C0005956 group C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 84 BXGD000357 Bone neoplasms C0005967 group C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process HP:0002664;HP:0000924 Neoplasm; Abnormality of the skeletal system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 151 BXGD000358 Bone Resorption C0005974 phenotype C05 Musculoskeletal Diseases Organ or Tissue Function DOID:7 disease of anatomical entity T042 Organ or Tissue Function 10 BXGD000359 Borderline intellectual disability C0006009 R41.83 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 16 BXGD000360 Borderline Personality Disorder C0006012 F60.3 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 221 BXGD000361 Bordetella Infections C0006015 group C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 1 BXGD000362 Borna Disease C0006023 disease C01;C22 Infections; Animal Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 26 BXGD000363 Borrelia Infections C0006035 group C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 6 BXGD000364 Boutonneuse Fever C0006060 A77.1 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 13 BXGD000365 Bowen's Disease C0006079 D00-D09 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 60 BXGD000366 Brain Abscess C0006105 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome HP:0000707;HP:0002715 Abnormality of the nervous system; Abnormality of the immune system T047 Disease or Syndrome 14 BXGD000367 Brain Damage, Chronic C0006109 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD000368 Brain Death C0006110 G93.82 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function T046 Pathologic Function 5 BXGD000369 Brain Diseases C0006111 G93.9 group C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 345 BXGD000370 Brain Diseases, Metabolic C0006112 G93.41 group C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD000371 Cerebral Edema C0006114 G93.6 phenotype C10 Nervous System Diseases Pathologic Function HP:0001939;HP:0000707 Abnormality of metabolism/homeostasis; Abnormality of the nervous system DOID:7 disease of anatomical entity T046 Pathologic Function 26 BXGD000372 Brain Neoplasms C0006118 group C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1018 BXGD000373 Branchioma C0006131 disease C04 Neoplasms Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 10 BXGD000374 Malignant neoplasm of breast C0006142 C50 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6941 BXGD000375 Breast Cyst C0006144 N60.0 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Acquired Abnormality DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T020 Acquired Abnormality 9 BXGD000376 Breast Diseases C0006145 N64.9 group C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 73 BXGD000377 Breech Presentation C0006157 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Pathologic Function HP:0001197 Abnormality of prenatal development or birth T046 Pathologic Function 30 BXGD000378 Brenner Tumor C0006160 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 14 BXGD000379 Bronchial Diseases C0006261 group C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD000380 Bronchial Fistula C0006262 disease C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD000381 Bronchial Neoplasms C0006264 group C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process HP:0002664;HP:0002086 Neoplasm; Abnormality of the respiratory system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD000382 Bronchospasm C0006266 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system T047 Disease or Syndrome 29 BXGD000383 Bronchiectasis C0006267 J47 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 190 BXGD000384 Bronchiolitis C0006271 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome HP:0002715;HP:0002086 Abnormality of the immune system; Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 118 BXGD000385 Bronchiolitis Obliterans C0006272 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 93 BXGD000386 Bronchiolitis, Viral C0006274 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD000387 Bronchitis C0006277 J40 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 58 BXGD000388 Congenital bronchogenic cyst C0006281 disease C16;C04;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Respiratory Tract Diseases Congenital Abnormality HP:0002086 Abnormality of the respiratory system T019 Congenital Abnormality 4 BXGD000389 Bronchopneumonia C0006285 J18.0 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD000390 Bronchopulmonary Dysplasia C0006287 P27.8 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 423 BXGD000391 Bronchopulmonary Sequestration C0006288 Q33.2 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality HP:0002086 Abnormality of the respiratory system T019 Congenital Abnormality 6 BXGD000392 Brucellosis C0006309 A23.9 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 92 BXGD000393 Bruxism C0006325 F45.8 phenotype C07 Stomatognathic Diseases Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 24 BXGD000394 Bulimia C0006370 F50.2 disease C23 Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 76 BXGD000395 Bundle-Branch Block C0006384 I45.4 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 12 BXGD000396 Bunion C0006386 M21.61 disease C05 Musculoskeletal Diseases Acquired Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T020 Acquired Abnormality 1 BXGD000397 Burkitt Lymphoma C0006413 C83.7 disease C04;C01;C20;C15 Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process HP:0002664;HP:0001871 Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 556 BXGD000398 Burning Mouth Syndrome C0006430 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 26 BXGD000399 Bursitis C0006444 M71.9 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD000400 Byssinosis C0006542 J66.0 disease C08;C24 Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD000401 Cachexia C0006625 R64 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0001507 Growth abnormality T184 Sign or Symptom 273 BXGD000402 Cadmium poisoning C0006635 disease C25 Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 8 BXGD000403 Calcinosis C0006663 phenotype C18 Nutritional and Metabolic Diseases Pathologic Function HP:0003011 Abnormality of the musculature DOID:0014667 disease of metabolism T046 Pathologic Function 52 BXGD000404 Calcinosis cutis C0006664 L94.2 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 7 BXGD000405 Calciphylaxis C0006666 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 10 BXGD000406 Calcium Metabolism Disorders C0006705 E83.50 group C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD000407 Campylobacter infection C0006818 disease C01 Infections Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD000408 Malignant Neoplasms C0006826 C80 group C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:14566 disease of cellular proliferation T191 Neoplastic Process 8621 BXGD000409 Candidiasis C0006840 B37.9 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 95 BXGD000410 Candidiasis, Chronic Mucocutaneous C0006845 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 31 BXGD000411 Cutaneous Candidiasis C0006846 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 9 BXGD000412 Mucocutaneous candidiasis C0006848 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD000413 Oral candidiasis C0006849 B37.0 disease C01;C07 Infections; Stomatognathic Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 58 BXGD000414 Candidiasis of vagina C0006852 B37.3 disease C13;C01 Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 20 BXGD000415 Cannabis Abuse C0006868 F12.1 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 19 BXGD000416 Cannabis Dependence C0006870 F12.2 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 40 BXGD000417 Capillariasis C0006897 B81.1 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 1 BXGD000418 Capillaritis C0006902 disease C23;C15;C14 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD000419 Capillary Fragility C0006905 disease Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 2 BXGD000420 Caplan Syndrome C0006915 disease C17;C05;C08;C24 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD000421 Carbohydrate Metabolism, Inborn Errors C0007001 group C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD000422 Carbon Monoxide Poisoning C0007020 disease C25 Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 4 BXGD000423 Carcinoid Tumor C0007095 D3A.00 phenotype C04 Neoplasms Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 267 BXGD000424 Carcinoma C0007097 group C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:14566 disease of cellular proliferation T191 Neoplastic Process 2462 BXGD000425 Malignant tumor of colon C0007102 C18 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2969 BXGD000426 Malignant neoplasm of endometrium C0007103 C54.1 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1235 BXGD000427 Female Breast Carcinoma C0007104 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 71 BXGD000428 Malignant neoplasm of larynx C0007107 C32.9 disease C04;C08;C09 Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 349 BXGD000429 Adenocarcinoma of prostate C0007112 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 342 BXGD000430 Rectal Carcinoma C0007113 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 472 BXGD000431 Malignant neoplasm of skin C0007114 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 508 BXGD000432 Malignant neoplasm of thyroid C0007115 C73 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 949 BXGD000433 Basal cell carcinoma C0007117 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 108 BXGD000434 Carcinoma, Basosquamous C0007118 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD000435 Bronchioloalveolar Adenocarcinoma C0007120 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0002086 Neoplasm; Abnormality of the respiratory system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 136 BXGD000436 Bronchogenic Carcinoma C0007121 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 47 BXGD000437 Noninfiltrating Intraductal Carcinoma C0007124 D05.1 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0000769 Neoplasm; Abnormality of the breast T191 Neoplastic Process 486 BXGD000438 Carcinoma, Ehrlich Tumor C0007125 disease C04 Neoplasms Neoplastic Process; Experimental Model of Disease DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191;T050 Neoplastic Process; Experimental Model of Disease 30 BXGD000439 Merkel cell carcinoma C0007129 C4A disease C04;C01 Neoplasms; Infections Neoplastic Process HP:0001574;HP:0000818;HP:0002664 Abnormality of the integument; Abnormality of the endocrine system; Neoplasm T191 Neoplastic Process 226 BXGD000440 Mucinous Adenocarcinoma C0007130 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 159 BXGD000441 Non-Small Cell Lung Carcinoma C0007131 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process HP:0002664;HP:0002086 Neoplasm; Abnormality of the respiratory system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3926 BXGD000442 Carcinoma, Papillary C0007133 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 225 BXGD000443 Renal Cell Carcinoma C0007134 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2084 BXGD000444 Adenocarcinoma, Scirrhous C0007135 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 7 BXGD000445 Squamous cell carcinoma C0007137 disease C04 Neoplasms Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:14566 disease of cellular proliferation T191 Neoplastic Process 2507 BXGD000446 Carcinoma, Transitional Cell C0007138 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 623 BXGD000447 Carcinosarcoma C0007140 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 94 BXGD000448 Low Cardiac Output C0007166 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding T033 Finding 1 BXGD000449 Cardiac Tamponade C0007177 I31.4 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD000450 Cardiomyopathy, Alcoholic C0007192 I42.6 disease C25;C14 Chemically-Induced Disorders; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 30 BXGD000451 Cardiomyopathy, Dilated C0007193 I42.0 group C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 512 BXGD000452 Hypertrophic Cardiomyopathy C0007194 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 560 BXGD000453 Restrictive cardiomyopathy C0007196 I42.5 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 41 BXGD000454 Cardiovascular Diseases C0007222 group C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1756 BXGD000455 Carotid Artery Diseases C0007273 group C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 69 BXGD000456 Carotid Artery Thrombosis C0007274 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 30 BXGD000457 Carotid Body Paraganglioma C0007279 disease C04 Neoplasms Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm DOID:630;DOID:7;DOID:14566 genetic disease; disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD000458 Carotid Stenosis C0007282 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 135 BXGD000459 Carpal Tunnel Syndrome C0007286 G56.0 disease C10;C26 Nervous System Diseases; Wounds and Injuries Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 87 BXGD000460 Cartilage Diseases C0007302 M94.9 group C17;C05 Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 23 BXGD000461 Cat-Scratch Disease C0007361 A28.1 disease C01;C15 Infections; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 11 BXGD000462 Catalepsy C0007370 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 43 BXGD000463 Cataplexy C0007384 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T047 Disease or Syndrome 36 BXGD000464 Catastrophic Illness C0007397 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 1 BXGD000465 Catatonia C0007398 F06.1 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 14 BXGD000466 Cecal Neoplasms C0007528 group C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD000467 Celiac Disease C0007570 K90.0 disease C06;C18 Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 527 BXGD000468 Neoplastic Cell Transformation C0007621 phenotype C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 143 BXGD000469 Cellulitis C0007642 L03.90 phenotype C23;C01;C17 Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases Pathologic Function HP:0003549 Abnormality of connective tissue DOID:7 disease of anatomical entity T046 Pathologic Function 38 BXGD000470 Cementoma C0007659 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0000152 Neoplasm; Abnormality of head or neck T191 Neoplastic Process 5 BXGD000471 CNS disorder C0007682 G96.9 group C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 319 BXGD000472 Central Nervous System Infection C0007684 group C01;C10 Infections; Nervous System Diseases Disease or Syndrome HP:0000707;HP:0002715 Abnormality of the nervous system; Abnormality of the immune system T047 Disease or Syndrome 44 BXGD000473 Central Retinal Artery Occlusion C0007688 H34.1 disease C11;C14 Eye Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000152;HP:0000478;HP:0001626 Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD000474 Cephalhematoma due to birth trauma C0007722 P12.0 phenotype C23;C16;C10;C26 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Wounds and Injuries Disease or Syndrome HP:0001197;HP:0001871 Abnormality of prenatal development or birth; Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 7 BXGD000475 Cerebellar Ataxia C0007758 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 441 BXGD000476 Cerebellar Diseases C0007760 group C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 66 BXGD000477 Cerebellar Neoplasms C0007762 group C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD000478 Intracranial Aneurysm C0007766 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 311 BXGD000479 Intracranial Arteriosclerosis C0007771 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD000480 Intracranial Arteriovenous Malformation C0007772 Q28.2 disease C16;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T019 Congenital Abnormality 11 BXGD000481 Cerebral arteritis C0007773 disease C20;C10;C14 Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD000482 Cerebral Atherosclerosis C0007775 I67.2 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD000483 Cerebral Embolism C0007780 I66 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD000484 Intracranial Embolism and Thrombosis C0007781 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD000485 Cerebral Infarction C0007785 I63.9 disease C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 687 BXGD000486 Brain Ischemia C0007786 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 358 BXGD000487 Transient Ischemic Attack C0007787 G45.9 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 344 BXGD000488 Cerebral Palsy C0007789 G80 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 241 BXGD000489 Diffuse Cerebral Sclerosis of Schilder C0007795 G37.0 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD000490 Cerebrospinal Fluid Rhinorrhea C0007815 phenotype C23;C10;C26 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Wounds and Injuries Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 3 BXGD000491 Cerebrovascular Disorders C0007820 I67.9 group C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 233 BXGD000492 Malignant tumor of cervix C0007847 C53.9 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1718 BXGD000493 Cervical Migraine Syndrome C0007852 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD000494 Neck Pain C0007859 M54.2 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 29 BXGD000495 Uterine Cervicitis C0007860 N72 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 22 BXGD000496 Cervico-Brachial Neuralgia C0007862 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD000497 Cervix Diseases C0007867 group C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 43 BXGD000498 Cervical dysplasia C0007868 N87.9 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 56 BXGD000499 Uterine Cervical Incompetence C0007871 N88.3 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Pathologic Function HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T046 Pathologic Function 1 BXGD000500 Uterine Cervical Neoplasm C0007873 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process HP:0000119 Abnormality of the genitourinary system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 140 BXGD000501 Cestode Infections C0007894 B71.9 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 8 BXGD000502 Chagas Cardiomyopathy C0007930 disease C01;C14 Infections; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 37 BXGD000503 Chagas' disease without mention of organ involvement C0007932 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 5 BXGD000504 Meibomian Cyst C0007933 H00.1 disease C04;C11 Neoplasms; Eye Diseases Disease or Syndrome HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD000505 Syphilitic chancre C0007939 A51.0 phenotype C01 Infections Sign or Symptom DOID:0050117 disease by infectious agent T184 Sign or Symptom 1 BXGD000506 Chancroids C0007947 A57 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 3 BXGD000507 Charcot-Marie-Tooth Disease C0007959 G60.0 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 208 BXGD000508 Chediak-Higashi Syndrome C0007965 D72.0 disease C16;C11;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 41 BXGD000509 Cheilitis C0007971 K13.0 disease C07 Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 17 BXGD000510 Cherubism C0008029 M27.8 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 22 BXGD000511 Chest Pain C0008031 R07.9 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025142;HP:0000924 Constitutional symptom; Abnormality of the skeletal system T184 Sign or Symptom 154 BXGD000512 Cheyne-Stokes Respiration C0008039 R06.3 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom HP:0002086 Abnormality of the respiratory system T184 Sign or Symptom 16 BXGD000513 Chiari-Frommel Syndrome C0008043 disease C13;C17 Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 9 BXGD000514 Chikungunya Fever C0008055 A92.0 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 137 BXGD000515 Chilblains C0008058 T69.1 disease C26 Wounds and Injuries Disease or Syndrome HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T047 Disease or Syndrome 12 BXGD000516 child abuse behavior C0008060 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 40 BXGD000517 Child Sexual Abuse C0008062 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD000518 Developmental Disabilities C0008073 F89 group F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 355 BXGD000519 Child Development Disorders, Pervasive C0008074 group F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 168 BXGD000520 Chlamydia Infections C0008149 A74.9 group C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 88 BXGD000521 Asiderotic anemia C0008272 D50 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD000522 Choanal Atresia C0008297 Q30.0 disease C16;C08;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T019 Congenital Abnormality 104 BXGD000523 Polyp in nasopharynx C0008298 J33.0 disease C23;C08;C07;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD000524 Choking C0008301 phenotype C08 Respiratory Tract Diseases Pathologic Function T046 Pathologic Function 4 BXGD000525 Bile duct adenoma C0008309 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD000526 Cholangitis C0008311 K83.0 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 80 BXGD000527 Primary biliary cirrhosis C0008312 K74.3 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 478 BXGD000528 Cholangitis, Sclerosing C0008313 K83.09 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 188 BXGD000529 Cholecystitis C0008325 K81 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 55 BXGD000530 Choledochal Cyst C0008340 Q44.4 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T019 Congenital Abnormality 27 BXGD000531 Cholelithiasis C0008350 K80 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 252 BXGD000532 Cholemia C0008352 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD000533 Cholera C0008354 A00 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 209 BXGD000534 Cholestasis C0008370 K83.1 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 420 BXGD000535 Intrahepatic Cholestasis C0008372 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 54 BXGD000536 Cholesteatoma C0008373 H71.90 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0002664;HP:0000598 Neoplasm; Abnormality of the ear DOID:7 disease of anatomical entity T047 Disease or Syndrome 135 BXGD000537 Cholesterol Ester Storage Disease C0008384 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD000538 Choline Deficiency C0008412 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 16 BXGD000539 Chondritis C0008439 disease C23;C17;C05 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome HP:0002715;HP:0000924 Abnormality of the immune system; Abnormality of the skeletal system T047 Disease or Syndrome 7 BXGD000540 Chondroblastoma C0008441 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0000924 Neoplasm; Abnormality of the skeletal system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 22 BXGD000541 Chondrodysplasia Punctata C0008445 Q77.3 disease C05 Musculoskeletal Diseases Congenital Abnormality DOID:630;DOID:225 genetic disease; syndrome T019 Congenital Abnormality 16 BXGD000542 Congenital anomaly of cartilage C0008449 Q78.9 group C16;C13;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD000543 Chondromatosis, Synovial C0008476 disease C05 Musculoskeletal Diseases Neoplastic Process T191 Neoplastic Process 18 BXGD000544 Chondrosarcoma C0008479 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0000924 Neoplasm; Abnormality of the skeletal system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 385 BXGD000545 Chordoma C0008487 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0000924 Neoplasm; Abnormality of the skeletal system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 140 BXGD000546 Chorea C0008489 G25.5 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:630;DOID:7;DOID:150 genetic disease; disease of anatomical entity; disease of mental health T047 Disease or Syndrome 168 BXGD000547 Hydatidiform Mole, Invasive C0008493 D39.2 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 10 BXGD000548 Chorioamnionitis C0008495 O41.1290 phenotype C16;C13 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 132 BXGD000549 Choriocarcinoma C0008497 C58 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process HP:0001197;HP:0000119;HP:0002664 Abnormality of prenatal development or birth; Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 431 BXGD000550 Chorioretinitis C0008513 H30.9 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD000551 Ectopic Tissue C0008519 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 3 BXGD000552 Choroid Diseases C0008521 H31.9 group C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD000553 Choroid Hemorrhage C0008522 H31.30 phenotype C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function HP:0001871;HP:0000478;HP:0001626 Abnormality of blood and blood-forming tissues; Abnormality of the eye; Abnormality of the cardiovascular system T046 Pathologic Function 1 BXGD000554 Choroideremia C0008525 H31.21 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 41 BXGD000555 Choroiditis C0008526 H30.9 disease C11 Eye Diseases Disease or Syndrome HP:0002715;HP:0000478 Abnormality of the immune system; Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD000556 Hemophilia B C0008533 D67 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 59 BXGD000557 Chromoblastomycosis C0008582 B43.9 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 7 BXGD000558 Chromosome Aberrations C0008625 group C23 Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 16 BXGD000559 Congenital chromosomal disease C0008626 Q99.9 group C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 757 BXGD000560 Bronchitis, Chronic C0008677 J42 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 118 BXGD000561 Cryptogenic pulmonary eosinophilia C0008680 J82.81 disease C08;C15 Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD000562 Chronic gingivitis C0008684 K05.1 disease C01;C07 Infections; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD000563 Chronic anterior uveitis C0008690 disease C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD000564 Chronic Motor or Vocal Tic Disorder C0008701 F95.1 phenotype C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 2 BXGD000565 Chronic osteomyelitis C0008707 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 21 BXGD000566 Chronic rhinitis C0008711 J31.0 disease C01;C08;C09 Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD000567 Eosinophilic granulomatosis with polyangiitis C0008728 M30.1 disease C20;C15;C14 Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 38 BXGD000568 Chylous Ascites C0008732 I89.8 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 6 BXGD000569 Chylothorax C0008733 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0001939;HP:0002086 Abnormality of metabolism/homeostasis; Abnormality of the respiratory system T047 Disease or Syndrome 23 BXGD000570 Cicatrization C0008767 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0003549 Abnormality of connective tissue T046 Pathologic Function 13 BXGD000571 Ciliary Motility Disorders C0008780 group C16;C08;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 59 BXGD000572 Circadian Rhythms C0008810 phenotype Organism Function T040 Organism Function 45 BXGD000573 Claustrophobia C0008909 F40.240 phenotype F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 4 BXGD000574 Cleft upper lip C0008924 Q36 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck DOID:7;DOID:225;DOID:0080015 disease of anatomical entity; syndrome; physical disorder T019 Congenital Abnormality 255 BXGD000575 Cleft Palate C0008925 Q35.9 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality DOID:225;DOID:0080015 syndrome; physical disorder T019 Congenital Abnormality 611 BXGD000576 Cleidocranial Dysplasia C0008928 Q74.0 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7;DOID:0080015 genetic disease; disease of anatomical entity; physical disorder T047 Disease or Syndrome 52 BXGD000577 Clonorchiasis C0009021 B66.1 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 15 BXGD000578 Clonus C0009024 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 60 BXGD000579 Melanoma, Cloudman S91 C0009075 disease C04 Neoplasms Neoplastic Process; Experimental Model of Disease T191;T050 Neoplastic Process; Experimental Model of Disease 7 BXGD000580 Clubbed Fingers C0009080 R68.3 disease C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 88 BXGD000581 Congenital clubfoot C0009081 Q66.0 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064 Abnormality of limbs DOID:7 disease of anatomical entity T019 Congenital Abnormality 285 BXGD000582 Cluster A personality disorder C0009084 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD000583 Cluster B personality disorder C0009086 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD000584 Cluster C personality disorder C0009087 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD000585 Cluster Headache C0009088 G44.02 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 38 BXGD000586 Cluttering C0009090 F80.81 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom DOID:150 disease of mental health T184 Sign or Symptom 8 BXGD000587 Cocaine Abuse C0009171 F14.1 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 144 BXGD000588 Cocaine intoxication C0009176 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD000589 Cocaine withdrawal C0009178 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 13 BXGD000590 Coccidioidomycosis C0009186 B38.9 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 14 BXGD000591 Coccidiosis C0009187 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 4 BXGD000592 Cochlear Diseases C0009197 group C09 Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD000593 Cockayne Syndrome C0009207 Q87.19 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225;DOID:150 genetic disease; disease of anatomical entity; syndrome; disease of mental health T047 Disease or Syndrome 85 BXGD000594 Coenuriasis C0009225 B71.8 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD000595 Cognition Disorders C0009241 group F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 607 BXGD000596 Colitis C0009319 K52.9 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1135 BXGD000597 Ulcerative Colitis C0009324 K51 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1458 BXGD000598 Collagen Diseases C0009326 group C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 63 BXGD000599 Congenital ocular coloboma (disorder) C0009363 Q13.0 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T019 Congenital Abnormality 129 BXGD000600 Colonic Diseases C0009373 group C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 17 BXGD000601 Colonic Diseases, Functional C0009374 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD000602 Colonic Neoplasms C0009375 group C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 947 BXGD000603 Colonic Polyps C0009376 K63.5 phenotype C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality T190 Anatomical Abnormality 69 BXGD000604 Color vision defect C0009398 H53.5 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 94 BXGD000605 Colorectal Carcinoma C0009402 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5473 BXGD000606 Colorectal Neoplasms C0009404 group C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1296 BXGD000607 Hereditary Nonpolyposis Colorectal Neoplasms C0009405 group C16;C06;C04;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 40 BXGD000608 Comatose C0009421 R40.20 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 78 BXGD000609 Combat Disorders C0009426 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 3 BXGD000610 Common Bile Duct Calculi C0009438 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance DOID:7 disease of anatomical entity T031 Body Substance 4 BXGD000611 Choledochal Cyst, Type I C0009439 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality T019 Congenital Abnormality 5 BXGD000612 Common Cold C0009443 J00 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 24 BXGD000613 Common Variable Immunodeficiency C0009447 D83.9 disease C20 Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 207 BXGD000614 Communicating Hydrocephalus C0009451 G91.0 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 26 BXGD000615 Communication impairment C0009460 F80.9 phenotype C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 13 BXGD000616 Compartment syndromes C0009492 T79.A0 group C05;C14 Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD000617 Obsessive-Compulsive Personality C0009595 F60.5 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 15 BXGD000618 Condylomata Acuminata C0009663 A63.0 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 73 BXGD000619 Confusion C0009676 R41.0 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 75 BXGD000620 Congenital macroglossia C0009677 Q38.2 disease C07 Stomatognathic Diseases Congenital Abnormality T019 Congenital Abnormality 7 BXGD000621 Anomalous pulmonary artery C0009681 Q25.79 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system T019 Congenital Abnormality 14 BXGD000622 Congenital cataract C0009691 Q12.0 disease C23;C16;C13;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 105 BXGD000623 Congenital dislocation C0009701 disease C05;C26 Musculoskeletal Diseases; Wounds and Injuries Congenital Abnormality T019 Congenital Abnormality 2 BXGD000624 Hepatic Fibrosis, Congenital C0009714 disease C23;C16;C06 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 63 BXGD000625 Spinal meningocele C0009730 Q05 disease C23;C16;C05;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T019 Congenital Abnormality 10 BXGD000626 Conjunctival Diseases C0009759 H10-H11 group C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD000627 Conjunctival Neoplasms C0009761 group C04;C11 Neoplasms; Eye Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD000628 Conjunctivitis C0009763 H10.9 disease C11 Eye Diseases Disease or Syndrome HP:0002715;HP:0000152;HP:0000478;HP:0001626 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 82 BXGD000629 Allergic Conjunctivitis C0009766 disease C11;C20 Eye Diseases; Immune System Diseases Disease or Syndrome HP:0002715;HP:0000152;HP:0000478;HP:0001626 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 38 BXGD000630 Conn Adenoma C0009777 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 107 BXGD000631 Connective Tissue Diseases C0009782 group C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 188 BXGD000632 Consciousness Disorders C0009792 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD000633 Constipation C0009806 K59.0 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T184 Sign or Symptom 424 BXGD000634 Constitutional Symptom C0009812 phenotype Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 30 BXGD000635 Contracture C0009917 M62.4 disease C05 Musculoskeletal Diseases Anatomical Abnormality HP:0000924;HP:0003549;HP:0003011 Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T190 Anatomical Abnormality 111 BXGD000636 Contracture of joint C0009918 M24.5 disease C05 Musculoskeletal Diseases Anatomical Abnormality HP:0000924;HP:0003549;HP:0003011 Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T190 Anatomical Abnormality 36 BXGD000637 Contrast Sensitivity C0009928 phenotype Mental Process T041 Mental Process 3 BXGD000638 Conversion disorder C0009946 F44 group F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 21 BXGD000639 Febrile Convulsions C0009952 R56.0 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 192 BXGD000640 Corneal Diseases C0010034 H18.9 group C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 47 BXGD000641 Hereditary corneal dystrophy C0010035 H18.50 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD000642 Corneal dystrophy C0010036 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 113 BXGD000643 Corneal Opacity C0010038 phenotype C11 Eye Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 113 BXGD000644 Corneal Ulcer C0010043 H16.00 disease C01;C11 Infections; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 33 BXGD000645 Corn of toe C0010046 disease C17 Skin and Connective Tissue Diseases Acquired Abnormality T020 Acquired Abnormality 4 BXGD000646 Coronary Aneurysm C0010051 I25.41 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 75 BXGD000647 Coronary Arteriosclerosis C0010054 I25.10 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1282 BXGD000648 Coronary heart disease C0010068 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1576 BXGD000649 Coronary Thrombosis C0010072 I22 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 35 BXGD000650 Coronary Artery Vasospasm C0010073 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 30 BXGD000651 Coronary Vessel Anomalies C0010074 Q24.5 group C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD000652 Corpus Luteum Cyst C0010093 N83.1 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 36 BXGD000653 Coughing C0010200 R05 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom HP:0002086 Abnormality of the respiratory system T184 Sign or Symptom 235 BXGD000654 Chronic cough C0010201 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom T184 Sign or Symptom 14 BXGD000655 Cowpox C0010232 B08.010 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 19 BXGD000656 Coxsackievirus Infections C0010246 B34.1 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 48 BXGD000657 Cranial nerve diseases C0010266 G52.9 group C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD000658 Craniofacial Dysostosis C0010273 Q75.1 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD000659 Craniopharyngioma C0010276 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 64 BXGD000660 Craniosynostosis C0010278 Q75.0 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 488 BXGD000661 Congenital Hypothyroidism C0010308 E03.1 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 94 BXGD000662 Cri-du-Chat Syndrome C0010314 Q93.4 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 11 BXGD000663 Crigler Najjar syndrome, type 1 C0010324 E80.5 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 17 BXGD000664 Crohn Disease C0010346 K50.9 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1382 BXGD000665 Croup C0010380 J05.0 disease C08;C09 Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD000666 Crush syndrome C0010392 T79.5 phenotype C26 Wounds and Injuries Pathologic Function DOID:7 disease of anatomical entity T046 Pathologic Function 1 BXGD000667 Cruveilhier-Baumgarten Syndrome C0010398 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD000668 Cryoglobulinemia C0010403 D89.1 disease C20;C15;C14 Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome HP:0002715 Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 37 BXGD000669 Infection by Cryptococcus neoformans C0010414 B45 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 167 BXGD000670 Cryptorchidism C0010417 Q53.9 disease C16;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system DOID:0080015 physical disorder T019 Congenital Abnormality 725 BXGD000671 Cryptosporidiosis C0010418 A07.2 disease C06;C01;C22 Digestive System Diseases; Infections; Animal Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 40 BXGD000672 Curling Ulcer C0010474 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD000673 Cushing Syndrome C0010481 E24.9 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 126 BXGD000674 Cutis Laxa C0010495 Q82.8 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 70 BXGD000675 Cyanosis C0010520 R23.0 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0001574;HP:0002086 Abnormality of the integument; Abnormality of the respiratory system T184 Sign or Symptom 54 BXGD000676 Cyclothymic Disorder C0010598 F34.0 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 4 BXGD000677 Adenoid Cystic Carcinoma C0010606 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 325 BXGD000678 Cystadenocarcinoma C0010631 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 8 BXGD000679 Cystadenoma C0010633 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 75 BXGD000680 Cystadenoma, Mucinous C0010635 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 15 BXGD000681 Cystic Adenomatoid Malformation of Lung, Congenital C0010668 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality HP:0002086 Abnormality of the respiratory system T019 Congenital Abnormality 11 BXGD000682 Endometrial cystic hyperplasia C0010673 disease C13 Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 5 BXGD000683 Cystic Fibrosis C0010674 E84 disease C16;C06;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 852 BXGD000684 Cysticercosis C0010678 B69.9 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 12 BXGD000685 Cystinuria C0010691 E72.01 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 22 BXGD000686 Cystitis C0010692 N30.9 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119;HP:0002715 Abnormality of the genitourinary system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 149 BXGD000687 Cystocele C0010695 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD000688 Phyllodes Tumor C0010701 D48.6 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 100 BXGD000689 Cyst C0010709 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Disease or Syndrome T047 Disease or Syndrome 221 BXGD000690 Cytomegalovirus Infections C0010823 B25 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 462 BXGD000691 Dacryocystitis C0010930 H04.30 disease C11 Eye Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD000692 Dandy-Walker Syndrome C0010964 Q03.1 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome HP:0000707;HP:0000152;HP:0000924 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 137 BXGD000693 Prelingual Deafness C0011052 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 22 BXGD000694 Deafness C0011053 H91.9 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding HP:0000598 Abnormality of the ear DOID:7 disease of anatomical entity T033 Finding 62 BXGD000695 Hearing Loss, Sudden C0011057 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding T033 Finding 1 BXGD000696 Sudden death C0011071 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 30 BXGD000697 Decerebrate State C0011103 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 3 BXGD000698 Decompression Sickness C0011119 T70.3 disease C26 Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 98 BXGD000699 Pressure Ulcer C0011127 L89 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 49 BXGD000700 Deglutition Disorders C0011168 R13.10 group C06;C09 Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0025031;HP:0000707;HP:0000152 Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of head or neck T047 Disease or Syndrome 389 BXGD000701 Dehydration C0011175 E86.0 phenotype C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 295 BXGD000702 Dejerine-Sottas Disease (disorder) C0011195 G60.0 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 176 BXGD000703 Delirium C0011206 R41.0 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 110 BXGD000704 Hepatitis D Infection C0011226 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 72 BXGD000705 Delusional disorder C0011251 F22 group F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 9 BXGD000706 Delusions C0011253 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 62 BXGD000707 Multi-infarct dementia C0011263 disease C23;C10;F03;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 30 BXGD000708 Presenile dementia C0011265 F03 disease C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 718 BXGD000709 Senile dementia C0011268 F03 disease C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 21 BXGD000710 Dementia, Vascular C0011269 F01.5 disease C10;F03;C14 Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 212 BXGD000711 Demyelinating disease of central nervous system C0011302 G37.9 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD000712 Demyelinating Diseases C0011303 group C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 156 BXGD000713 Demyelination C0011304 phenotype C10 Nervous System Diseases Pathologic Function T046 Pathologic Function 9 BXGD000714 Dengue Fever C0011311 A90 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 360 BXGD000715 Dental Calculus C0011330 phenotype C23;C07 Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Finding T033 Finding 2 BXGD000716 Dental caries C0011334 K02.9 disease C07 Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 330 BXGD000717 Dental Enamel Hypoplasia C0011351 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome HP:0000152;HP:0000924;HP:0003549 Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue DOID:7 disease of anatomical entity T047 Disease or Syndrome 72 BXGD000718 Dental Plaque C0011389 phenotype C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 27 BXGD000719 Dental Pulp Diseases C0011405 group C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD000720 Dental Pulp Exposure C0011406 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD000721 Dental Pulp Necrosis C0011407 K04.1 disease C23;C07 Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD000722 Dentigerous Cyst C0011428 K09.0 disease C04;C05;C07 Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 30 BXGD000723 Dentin Dysplasia C0011430 K00.5 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome HP:0000152;HP:0000924;HP:0003549 Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 16 BXGD000724 Dentin Sensitivity C0011432 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 19 BXGD000725 Dentin, Secondary C0011434 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD000726 Dentinogenesis Imperfecta C0011436 K00.5 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality HP:0000152;HP:0000924;HP:0003549 Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 35 BXGD000727 Dependent Personality Disorder C0011548 F60.7 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD000728 Depersonalization C0011551 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 3 BXGD000729 Mental Depression C0011570 F32.9 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1478 BXGD000730 Endogenous depression C0011573 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 53 BXGD000731 Involutional Depression C0011574 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 25 BXGD000732 Reactive depression C0011579 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD000733 Depressive disorder C0011581 F32.9 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1719 BXGD000734 Dermatitis C0011603 L30.9 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 496 BXGD000735 Exfoliative dermatitis C0011606 L53.9 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T047 Disease or Syndrome 64 BXGD000736 Dermatitis Herpetiformis C0011608 L13.0 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 43 BXGD000737 Drug Eruptions C0011609 group C17;C20;C25 Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 41 BXGD000738 Dermatitis, Atopic C0011615 L20 disease C16;C17;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 751 BXGD000739 Contact Dermatitis C0011616 L25 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 110 BXGD000740 Stasis dermatitis C0011620 I87.2 disease C23;C16;C17;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD000741 Dermatomycoses C0011630 group C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 6 BXGD000742 Dermatomyositis C0011633 M33.90 disease C17;C05;C10 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 235 BXGD000743 Dermatophytosis C0011636 B35 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 19 BXGD000744 Scleroderma C0011644 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 316 BXGD000745 Dermatosis Papulosa Nigra C0011645 L82 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD000746 Dermoid Cyst C0011649 K09.8 disease C04 Neoplasms Neoplastic Process HP:0001574 Abnormality of the integument DOID:14566 disease of cellular proliferation T191 Neoplastic Process 33 BXGD000747 Developmental Coordination Disorder C0011757 F82 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 23 BXGD000748 Dextrocardia C0011813 Q24.0 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T019 Congenital Abnormality 30 BXGD000749 Diabetes C0011847 E11 disease C19 Endocrine System Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 2359 BXGD000750 Diabetes Insipidus C0011848 E23.2 disease C13;C12;C19 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 57 BXGD000751 Diabetes Mellitus C0011849 E08-E13 group C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome HP:0001939;HP:0000818 Abnormality of metabolism/homeostasis; Abnormality of the endocrine system DOID:0014667 disease of metabolism T047 Disease or Syndrome 2803 BXGD000752 Diabetes Mellitus, Experimental C0011853 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease T050 Experimental Model of Disease 522 BXGD000753 Diabetes Mellitus, Insulin-Dependent C0011854 E10 disease C18;C20;C19 Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome HP:0001939;HP:0000818 Abnormality of metabolism/homeostasis; Abnormality of the endocrine system DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1675 BXGD000754 Lipoatrophic Diabetes Mellitus C0011859 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:7 disease of metabolism; disease of anatomical entity T047 Disease or Syndrome 11 BXGD000755 Diabetes Mellitus, Non-Insulin-Dependent C0011860 E11 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome HP:0001939;HP:0000818 Abnormality of metabolism/homeostasis; Abnormality of the endocrine system DOID:0014667 disease of metabolism T047 Disease or Syndrome 3134 BXGD000756 Diabetic peripheral angiopathy C0011871 disease C18;C19;C14 Nutritional and Metabolic Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 1 BXGD000757 Diabetic Angiopathies C0011875 disease C19;C14 Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 106 BXGD000758 Cataract due to diabetes mellitus C0011876 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 22 BXGD000759 Diabetic Ketoacidosis C0011880 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome HP:0001939;HP:0000818 Abnormality of metabolism/homeostasis; Abnormality of the endocrine system DOID:0014667 disease of metabolism T047 Disease or Syndrome 63 BXGD000760 Diabetic Nephropathy C0011881 disease C13;C12;C19 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1189 BXGD000761 Diabetic Neuropathies C0011882 group C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 144 BXGD000762 Diabetic Retinopathy C0011884 disease C11;C19;C14 Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 645 BXGD000763 Diagnostic Techniques, Cardiovascular C0011904 phenotype Diagnostic Procedure T060 Diagnostic Procedure 6 BXGD000764 Diaphragmatic Eventration C0011981 Q79.1 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality HP:0003011 Abnormality of the musculature DOID:7 disease of anatomical entity T019 Congenital Abnormality 16 BXGD000765 Camurati-Engelmann Syndrome C0011989 Q78.3 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 34 BXGD000766 Diarrhea C0011991 R19.7 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T184 Sign or Symptom 632 BXGD000767 Infantile Diarrhea C0011992 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 2 BXGD000768 Vipoma C0011993 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD000769 Diastema of Teeth C0011998 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 9 BXGD000770 Diastematomyelia C0011999 Q06.2 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 28 BXGD000771 Dictyocaulus Infections C0012118 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD000772 DiGeorge Syndrome C0012236 D82.1 disease C16;C05;C19;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 111 BXGD000773 Digestive System Disorders C0012242 K92.9 group C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 19 BXGD000774 Digestive System Neoplasms C0012243 group C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD000775 Pathological Dilatation C0012359 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 11 BXGD000776 Diphtheria C0012546 A36 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 147 BXGD000777 Diplopia C0012569 H53.2 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 75 BXGD000778 Dirofilariasis C0012602 B74.8 disease C01;C22 Infections; Animal Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 3 BXGD000779 disc disorder C0012619 disease C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD000780 Discitis C0012624 M46.4 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD000781 Blastocyst Disintegration C0012684 phenotype C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function T046 Pathologic Function 7 BXGD000782 Disorder of copper metabolism C0012714 E83.00 group C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 5 BXGD000783 Iron Metabolism Disorders C0012715 E83.1 group C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 15 BXGD000784 Disruptive Behavior Disorder C0012734 F91.9 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 13 BXGD000785 Dissecting aortic aneurysm C0012736 I71 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD000786 Disseminated Intravascular Coagulation C0012739 D65 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 117 BXGD000787 Dissociative disorder C0012746 F44.9 group F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 6 BXGD000788 Distemper C0012754 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD000789 Tooth eruption disorder C0012767 K00.6 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 1 BXGD000790 Colon diverticulum anatomic structure C0012811 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality HP:0025031 Abnormality of the digestive system T190 Anatomical Abnormality 17 BXGD000791 Diverticulitis C0012813 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 38 BXGD000792 Colonic Diverticulitis C0012814 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD000793 Diverticulum C0012817 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality T190 Anatomical Abnormality 12 BXGD000794 Diverticular disease of colon C0012819 K57.30 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 5 BXGD000795 Dizziness C0012833 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0000598 Abnormality of the ear T184 Sign or Symptom 64 BXGD000796 Double Outlet Right Ventricle C0013069 Q20.1 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T019 Congenital Abnormality 48 BXGD000797 Down Syndrome C0013080 Q90 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 766 BXGD000798 Drinking behavior processes C0013124 disease F01 Behavior and Behavior Mechanisms Individual Behavior T055 Individual Behavior 7 BXGD000799 Drooling C0013132 phenotype C07 Stomatognathic Diseases Finding HP:0000707;HP:0000152 Abnormality of the nervous system; Abnormality of head or neck T033 Finding 95 BXGD000800 Drowsiness C0013144 phenotype F03 Mental Disorders Finding HP:0000707 Abnormality of the nervous system T033 Finding 31 BXGD000801 Drug abuse C0013146 group C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 405 BXGD000802 Drug habituation C0013170 phenotype C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 196 BXGD000803 Drug Allergy C0013182 T88.7 group C20;C25 Immune System Diseases; Chemically-Induced Disorders Pathologic Function T046 Pathologic Function 37 BXGD000804 Drug toxicity C0013221 group C25 Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 86 BXGD000805 Drug Use Disorders C0013222 group C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 121 BXGD000806 Dry Eye Syndromes C0013238 H04.12 disease C11 Eye Diseases Disease or Syndrome HP:0002715;HP:0000152;HP:0000478;HP:0001626 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 156 BXGD000807 Duane Retraction Syndrome C0013261 H50.81 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 32 BXGD000808 Muscular Dystrophy, Duchenne C0013264 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 375 BXGD000809 Patent ductus arteriosus C0013274 Q25.0 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T019 Congenital Abnormality 510 BXGD000810 Duodenal Diseases C0013289 group C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD000811 Duodenal Neoplasms C0013291 group C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD000812 Duodenal Ulcer C0013295 K26 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 102 BXGD000813 Duodenitis C0013298 K29.8 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD000814 Dupuytren Contracture C0013312 M72.0 disease C04;C17;C05 Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome HP:0040064;HP:0000924;HP:0003549;HP:0003011 Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T047 Disease or Syndrome 34 BXGD000815 Dwarfism C0013336 E34.3 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality HP:0001507 Growth abnormality DOID:630 genetic disease T019 Congenital Abnormality 1261 BXGD000816 Pituitary dwarfism C0013338 E23.0 disease C05;C10;C19 Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome HP:0000818;HP:0000707;HP:0001507 Abnormality of the endocrine system; Abnormality of the nervous system; Growth abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 41 BXGD000817 Dysarthria C0013362 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 487 BXGD000818 Dysautonomia C0013363 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 148 BXGD000819 Dysautonomia, Familial C0013364 G90.1 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome; Congenital Abnormality DOID:7 disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 52 BXGD000820 Dyschondroplasias C0013366 group C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T019 Congenital Abnormality 24 BXGD000821 Dysentery C0013369 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD000822 Amebic colitis C0013370 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 49 BXGD000823 Shigella Infections C0013371 A03 group C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 121 BXGD000824 Dysgammaglobulinemia C0013374 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD000825 Dysgerminoma C0013377 disease C04 Neoplasms Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 42 BXGD000826 Dyskinetic syndrome C0013384 G24 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 316 BXGD000827 Dyskinesia, Drug-Induced C0013386 disease C23;C10;C25 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 32 BXGD000828 Dysmenorrhea C0013390 N94.6 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 71 BXGD000829 Dysostoses C0013393 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD000830 Dyspareunia (female) C0013394 N94.1 disease C13;C12;F03;F01 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 9 BXGD000831 Dyspepsia C0013395 K30 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 61 BXGD000832 Dysplastic Nevus Syndrome C0013403 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 15 BXGD000833 Dyspnea C0013404 R06.00 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom HP:0002086 Abnormality of the respiratory system T184 Sign or Symptom 222 BXGD000834 Dyspnea, Paroxysmal C0013405 disease C23;C08;C14 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system T047 Disease or Syndrome 16 BXGD000835 Dyssocial Behavior C0013409 phenotype F03 Mental Disorders Individual Behavior T055 Individual Behavior 1 BXGD000836 Dysthymic Disorder C0013415 F34.1 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 12 BXGD000837 Dystonia C0013421 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T184 Sign or Symptom 453 BXGD000838 Dystonia Musculorum Deformans C0013423 G24.1 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 26 BXGD000839 Dystrophy of vulva C0013426 N90.4 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD000840 Dysuria C0013428 R30.9 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0000119 Abnormality of the genitourinary system T184 Sign or Symptom 17 BXGD000841 Ear Diseases C0013447 H93.9 group C09 Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD000842 Ear Neoplasms C0013449 group C04;C09 Neoplasms; Otorhinolaryngologic Diseases Neoplastic Process HP:0002664;HP:0000598 Neoplasm; Abnormality of the ear DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD000843 Earache C0013456 H92.09 phenotype C23;C09 Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases Sign or Symptom HP:0025142;HP:0000598 Constitutional symptom; Abnormality of the ear T184 Sign or Symptom 6 BXGD000844 East Coast Fever C0013467 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD000845 Eating Disorders C0013473 F50.9 group F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 133 BXGD000846 Ebstein Anomaly C0013481 Q22.5 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T019 Congenital Abnormality 10 BXGD000847 Ecchymosis C0013491 phenotype C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Pathologic Function HP:0001574;HP:0001871;HP:0001626 Abnormality of the integument; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T046 Pathologic Function 41 BXGD000848 Echinococcosis C0013502 B67 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 21 BXGD000849 Echinococcosis, Hepatic C0013504 B67.8 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD000850 Echinococcosis, Pulmonary C0013505 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD000851 Echolalia C0013528 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 39 BXGD000852 Echovirus Infections C0013533 B34.1 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD000853 Eclampsia C0013537 O15 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome HP:0001197 Abnormality of prenatal development or birth DOID:7 disease of anatomical entity T047 Disease or Syndrome 241 BXGD000854 Ectodermal Dysplasia C0013575 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 71 BXGD000855 Ectopia Lentis C0013581 Q12.1 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T019 Congenital Abnormality 34 BXGD000856 Ectromelia C0013589 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 30 BXGD000857 Ectropion C0013592 H02.10 disease C11 Eye Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 50 BXGD000858 Eczema C0013595 L30.9 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 863 BXGD000859 Edema C0013604 R60.9 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0001939 Abnormality of metabolism/homeostasis T046 Pathologic Function 126 BXGD000860 Chylous effusion C0013691 J94.0 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD000861 Ehlers-Danlos Syndrome C0013720 Q79.6 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 77 BXGD000862 Eisenmenger Complex C0013743 I27.83 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD000863 Elephantiasis C0013882 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD000864 Filarial Elephantiases C0013884 disease C01;C15 Infections; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 38 BXGD000865 Elliptocytosis, Hereditary C0013902 D58.1 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 23 BXGD000866 Ellis-Van Creveld Syndrome C0013903 Q77.6 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 11 BXGD000867 Emaciation C0013911 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 6 BXGD000868 Embolism C0013922 phenotype C14 Cardiovascular Diseases Pathologic Function T046 Pathologic Function 3 BXGD000869 Embolism, Amniotic Fluid C0013927 O88.1 disease C13;C14 Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD000870 Embolism, Tumor C0013930 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 12 BXGD000871 Embryo Resorption C0013937 phenotype C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Organism Function T040 Organism Function 7 BXGD000872 Embryopathies C0013949 disease C16;C13 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 6 BXGD000873 Emotional Disturbances C0013985 phenotype F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 8 BXGD000874 Pathological accumulation of air in tissues C0013990 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 69 BXGD000875 Empty Sella Syndrome C0014008 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD000876 Empyema C0014009 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 31 BXGD000877 Empyema, Pleural C0014013 J86.9 disease C23;C01;C08 Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome HP:0001939;HP:0002086 Abnormality of metabolism/homeostasis; Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD000878 Encephalitis C0014038 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707;HP:0002715 Abnormality of the nervous system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 324 BXGD000879 Encephalitis Lethargica C0014040 A85.8 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 3 BXGD000880 Japanese Encephalitis C0014057 A83.0 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 119 BXGD000881 Encephalomyelitis, Acute Disseminated C0014059 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 24 BXGD000882 Encephalitis, St. Louis C0014060 A83.3 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 272 BXGD000883 Tick-Borne Encephalitis C0014061 A84 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 59 BXGD000884 Congenital cerebral hernia C0014065 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 93 BXGD000885 Occipital Encephalocele C0014067 Q01.2 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707;HP:0000152;HP:0000924 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 33 BXGD000886 Encephalomalacia C0014068 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD000887 Encephalomyelitis C0014070 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 865 BXGD000888 Experimental Autoimmune Encephalomyelitis C0014072 disease C20;C10 Immune System Diseases; Nervous System Diseases Experimental Model of Disease T050 Experimental Model of Disease 97 BXGD000889 Leukoencephalitis, Acute Hemorrhagic C0014077 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD000890 Venezuelan equine encephalomyelitis C0014078 A92.2 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 34 BXGD000891 Enchondromatosis C0014084 Q78.4 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0002664;HP:0000924 Neoplasm; Abnormality of the skeletal system DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 22 BXGD000892 Endocardial Cushion Defects C0014116 Q21.2 group C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T019 Congenital Abnormality 71 BXGD000893 Endocardial Fibroelastosis C0014117 I42.4 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD000894 Endocarditis C0014118 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 56 BXGD000895 Bacterial Endocarditis C0014121 disease C01;C14 Infections; Cardiovascular Diseases Disease or Syndrome HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 68 BXGD000896 Subacute Bacterial Endocarditis C0014122 disease C01;C14 Infections; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD000897 Endocervical polyp C0014126 disease C23 Pathological Conditions, Signs and Symptoms Neoplastic Process T191 Neoplastic Process 3 BXGD000898 Endocervicitis C0014127 disease C23;C13;C01 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD000899 Endocrine System Diseases C0014130 E34.9 group C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 74 BXGD000900 Endocrine Gland Neoplasms C0014132 group C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0002664 Abnormality of the endocrine system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 15 BXGD000901 Yolk Sac Tumor C0014145 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 68 BXGD000902 Endometrial Neoplasms C0014170 group C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 261 BXGD000903 Endometrial Hyperplasia C0014173 N85.0 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 143 BXGD000904 Endometriosis C0014175 N80.9 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1188 BXGD000905 Endometritis C0014179 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 46 BXGD000906 Endophthalmitis C0014236 disease C01;C11 Infections; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 22 BXGD000907 Entamoebiasis C0014324 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 6 BXGD000908 Enteritis C0014335 K52.9 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 85 BXGD000909 Enterobacteriaceae Infections C0014347 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 9 BXGD000910 Enterocolitis C0014356 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T047 Disease or Syndrome 40 BXGD000911 Enterotoxemia C0014371 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD000912 Enterovirus Infections C0014378 B34.1 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 237 BXGD000913 Entropion C0014390 disease C11 Eye Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD000914 Enuresis C0014394 R32 phenotype C13;C12;F03;F01 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 27 BXGD000915 Eosinophilia C0014457 D72.1 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 325 BXGD000916 Eosinophilia, Tropical C0014458 J82.89 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 24 BXGD000917 Ependymoma C0014474 disease C04 Neoplasms Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 244 BXGD000918 Eperythrozoonosis C0014476 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD000919 Epidemic keratoconjunctivitis C0014493 B30.0 disease C01;C11 Infections; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD000920 Epithelial cyst C0014511 K09.8 phenotype C04 Neoplasms Anatomical Abnormality HP:0001574 Abnormality of the integument DOID:14566 disease of cellular proliferation T190 Anatomical Abnormality 38 BXGD000921 Toxic Epidermal Necrolysis C0014518 L51.2 disease C17;C20;C25;C07 Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 143 BXGD000922 Epidermodysplasia Verruciformis C0014522 disease C01;C17 Infections; Skin and Connective Tissue Diseases Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 64 BXGD000923 Epidermolysis Bullosa C0014527 Q81.9 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 47 BXGD000924 Epididymitis C0014534 N45.1 disease C12 Male Urogenital Diseases Disease or Syndrome HP:0000119;HP:0002715 Abnormality of the genitourinary system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD000925 Epidural Neoplasms C0014536 group C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD000926 Epilepsy C0014544 G40.9 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1215 BXGD000927 Epilepsies, Partial C0014547 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 73 BXGD000928 Epilepsy, Generalized C0014548 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 93 BXGD000929 Tonic-Clonic Epilepsy C0014549 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 19 BXGD000930 Myoclonic Epilepsy C0014550 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 71 BXGD000931 Absence Epilepsy C0014553 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 89 BXGD000932 Epilepsy, Temporal Lobe C0014556 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 354 BXGD000933 Uncinate Epilepsy C0014558 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 23 BXGD000934 Epiphyses, Slipped C0014571 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD000935 Epiphysitis C0014574 M93.9 disease C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD000936 Episcleritis C0014583 H15.1 disease C11 Eye Diseases Disease or Syndrome HP:0002715;HP:0000478 Abnormality of the immune system; Abnormality of the eye T047 Disease or Syndrome 9 BXGD000937 Epispadias C0014588 Q64.0 group C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality T019 Congenital Abnormality 30 BXGD000938 Epistaxis C0014591 R04.0 phenotype C23;C08;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Pathologic Function HP:0001871;HP:0000152 Abnormality of blood and blood-forming tissues; Abnormality of head or neck T046 Pathologic Function 82 BXGD000939 Epithelial hyperplasia C0014599 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 63 BXGD000940 Giant Cell Epulis C0014647 K06.8 disease C23;C05;C07 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD000941 Equinus Deformity C0014670 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality T190 Anatomical Abnormality 2 BXGD000942 Erysipelas C0014733 A46 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 17 BXGD000943 Erysipelothrix infection C0014736 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD000944 Erythema Chronicum Migrans C0014740 A26.0 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 41 BXGD000945 Erythema Multiforme C0014742 L51 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 38 BXGD000946 Erythema Nodosum C0014743 L52 disease C17;C20;C25 Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T047 Disease or Syndrome 51 BXGD000947 Erythroblastosis, Fetal C0014761 P55.9 disease C16;C13;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD000948 Red Blood Cell Count measurement C0014772 phenotype Laboratory Procedure T059 Laboratory Procedure 717 BXGD000949 Erythroderma, Maculopapular C0014799 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD000950 Erythroid hyperplasia C0014800 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 22 BXGD000951 Erythromelalgia C0014804 I73.81 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD000952 Primary Erythermalgia C0014805 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD000953 Erythroplasia C0014818 D00-D09 disease C04 Neoplasms Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 4 BXGD000954 Escherichia coli Infections C0014836 B96.20 group C01 Infections Disease or Syndrome HP:0002715 Abnormality of the immune system T047 Disease or Syndrome 38 BXGD000955 Esophageal Achalasia C0014848 K22.0 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 49 BXGD000956 Esophageal and Gastric Varices C0014849 disease C06 Digestive System Diseases Acquired Abnormality T020 Acquired Abnormality 4 BXGD000957 Esophageal Atresia C0014850 Q39.0 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T019 Congenital Abnormality 59 BXGD000958 Esophageal Diseases C0014852 K22.9 group C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 19 BXGD000959 Esophageal Fistula C0014856 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality T190 Anatomical Abnormality 5 BXGD000960 Esophageal motility disorders C0014858 K22.4 group C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD000961 Esophageal Neoplasms C0014859 group C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1254 BXGD000962 Esophageal spasm C0014863 K22.4 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD000963 Esophageal Stenosis C0014866 K22.2 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 17 BXGD000964 Esophageal Varices C0014867 I85 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 56 BXGD000965 Esophagitis C0014868 K20 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 105 BXGD000966 Peptic Esophagitis C0014869 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 85 BXGD000967 Esotropia C0014877 H50.00 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 121 BXGD000968 Euthyroid Sick Syndromes C0015190 E07.81 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD000969 Exanthema C0015230 R21 phenotype C17 Skin and Connective Tissue Diseases Sign or Symptom HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system DOID:7 disease of anatomical entity T184 Sign or Symptom 251 BXGD000970 Exanthema Subitum C0015231 B08.20 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 1 BXGD000971 Bronchospasm, Exercise-Induced C0015263 J45.990 disease C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD000972 Exhibitionism C0015269 F65.2 phenotype F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 4 BXGD000973 Exophthalmos C0015300 H05.20 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 225 BXGD000974 External exotoses C0015302 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 109 BXGD000975 Hereditary Multiple Exostoses C0015306 Q78.6 disease C16;C04;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Congenital Abnormality HP:0002664;HP:0000924 Neoplasm; Abnormality of the skeletal system DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 32 BXGD000976 Exotropia C0015310 H50.1 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 78 BXGD000977 Extramedullary hematopoiesis of spleen C0015366 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD000978 Extrapyramidal Disorders C0015371 group C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 27 BXGD000979 Extravasation of Contrast Media C0015378 phenotype C23;C26 Pathological Conditions, Signs and Symptoms; Wounds and Injuries Pathologic Function T046 Pathologic Function 6 BXGD000980 Extraversion (Psychology) C0015382 phenotype F01 Behavior and Behavior Mechanisms Mental Process T041 Mental Process 3 BXGD000981 Eye Abnormalities C0015393 Q15.9 group C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality T019 Congenital Abnormality 55 BXGD000982 Eye Color C0015396 phenotype Organism Attribute T032 Organism Attribute 13 BXGD000983 Disorder of eye C0015397 H44 group C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 400 BXGD000984 Eye Diseases, Hereditary C0015398 group C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD000985 Eye Infection C0015403 group C01;C11 Infections; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 24 BXGD000986 Eye Infections, Bacterial C0015404 group C01;C11 Infections; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD000987 Fungal eye infections C0015405 group C01;C11 Infections; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD000988 Eye Manifestations C0015411 phenotype C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom T184 Sign or Symptom 7 BXGD000989 Eye Neoplasms C0015414 group C04;C11 Neoplasms; Eye Diseases Neoplastic Process HP:0002664;HP:0000478 Neoplasm; Abnormality of the eye DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 24 BXGD000990 Eyelid Diseases C0015423 H02.9 group C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD000991 Eyelid Neoplasms C0015424 group C04;C11 Neoplasms; Eye Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD000992 Facial Dermatoses C0015456 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD000993 Facial Hemiatrophy C0015458 disease C10;C07 Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD000994 Facial Nerve Diseases C0015464 G51 group C10;C07 Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD000995 Facial Pain C0015468 R51.9 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 7 BXGD000996 Facial paralysis C0015469 G51.0 disease C23;C10;C07 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome HP:0000707;HP:0000152;HP:0003011 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculature DOID:7 disease of anatomical entity T047 Disease or Syndrome 182 BXGD000997 Hereditary Factor V Deficiency C0015499 D68.2 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD000998 Factor VII Deficiency C0015503 D68.2 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 10 BXGD000999 Factor X Deficiency C0015519 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD001000 Hereditary Factor XI Deficiency C0015523 D68.1 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:630 genetic disease T047 Disease or Syndrome 7 BXGD001001 Factor XII Deficiency C0015526 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:630 genetic disease T047 Disease or Syndrome 14 BXGD001002 Hereditary Factor XIII Deficiency C0015530 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 10 BXGD001003 Failure to Thrive C0015544 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 842 BXGD001004 Fallopian Tube Neoplasms C0015558 group C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD001005 Fanconi Syndrome C0015624 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 26 BXGD001006 Fanconi Anemia C0015625 D61.09 disease C16;C18;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 394 BXGD001007 Farmer's Lung C0015634 J67.0 disease C08;C20;C24 Respiratory Tract Diseases; Immune System Diseases; Occupational Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD001008 Muscular fasciculation C0015644 R25.3 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 99 BXGD001009 Fasciitis C0015645 M72.9 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0002715;HP:0003549 Abnormality of the immune system; Abnormality of connective tissue DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD001010 Fascioliasis C0015652 B66.3 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 24 BXGD001011 Fatigue C0015672 R53.83 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 760 BXGD001012 Chronic Fatigue Syndrome C0015674 R53.82 disease C01;C05;C10 Infections; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 118 BXGD001013 Fatty Liver C0015695 disease C06 Digestive System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 875 BXGD001014 Fatty Liver, Alcoholic C0015696 K70.0 disease C06;C25 Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 94 BXGD001015 Arterial Fatty Streak C0015697 phenotype C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality T020 Acquired Abnormality 5 BXGD001016 Favism C0015702 D55.0 disease C16;C25;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chemically-Induced Disorders; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 11 BXGD001017 Favre-Racouchot Syndrome C0015704 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD001018 Fecal Incontinence C0015732 R15.9 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0025142 Abnormality of the digestive system; Constitutional symptom T047 Disease or Syndrome 60 BXGD001019 Feeding behaviors C0015745 phenotype F01 Behavior and Behavior Mechanisms Organism Function T040 Organism Function 3 BXGD001020 Felty Syndrome C0015773 M05.0 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 13 BXGD001021 Femur Head Necrosis C0015814 disease C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD001022 Fenestration (morphologic abnormality) C0015826 disease Acquired Abnormality T020 Acquired Abnormality 43 BXGD001023 Fetal Alcohol Syndrome C0015923 Q86.0 disease C16;C13;C25 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 89 BXGD001024 Fetal Diseases C0015929 group C16;C13 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 11 BXGD001025 Fetal Distress C0015930 disease C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0001197 Abnormality of prenatal development or birth T046 Pathologic Function 44 BXGD001026 Fetal Growth Retardation C0015934 phenotype C23;C16;C13 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome HP:0001507 Growth abnormality T047 Disease or Syndrome 1037 BXGD001027 Fetal Macrosomia C0015938 disease C23;C16;C13;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Finding T033 Finding 2 BXGD001028 Fetal Membranes, Premature Rupture C0015944 O42 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Pathologic Function HP:0001197 Abnormality of prenatal development or birth T046 Pathologic Function 22 BXGD001029 Fetal Resorption C0015951 disease C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 8 BXGD001030 Fever C0015967 R50.9 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0001939 Abnormality of metabolism/homeostasis T184 Sign or Symptom 1021 BXGD001031 Periodic fever C0015974 disease Disease or Syndrome T047 Disease or Syndrome 19 BXGD001032 Fibroadenosis C0016024 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD001033 Nonproliferative fibrocystic disease C0016033 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD001034 Breast Fibrocystic Disease C0016034 N60 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 114 BXGD001035 Fibrodysplasia Ossificans Progressiva C0016037 M61.1 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 58 BXGD001036 Fibroelastosis C0016038 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD001037 fibroma C0016045 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 30 BXGD001038 Fibromatosis C0016048 M72.9 disease C04 Neoplasms Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 22 BXGD001039 Fibromatosis, Gingival C0016049 K06.1 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality HP:0002664;HP:0000152 Neoplasm; Abnormality of head or neck DOID:7 disease of anatomical entity T190 Anatomical Abnormality 20 BXGD001040 Fibromuscular Dysplasia C0016052 I77.3 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 47 BXGD001041 Fibromyalgia C0016053 M79.7 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 143 BXGD001042 Fibrosarcoma C0016057 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 413 BXGD001043 Fibrosis C0016059 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 184 BXGD001044 Osteitis Fibrosa Disseminata C0016063 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:630 genetic disease T047 Disease or Syndrome 19 BXGD001045 Fibrous Dysplasia, Monostotic C0016064 M85.0 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 1 BXGD001046 Polyostotic fibrous dysplasia C0016065 Q78.1 disease C05 Musculoskeletal Diseases Congenital Abnormality HP:0000924 Abnormality of the skeletal system DOID:630 genetic disease T019 Congenital Abnormality 18 BXGD001047 Filariasis C0016085 B74 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 32 BXGD001048 pathologic fistula C0016169 phenotype C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality T190 Anatomical Abnormality 71 BXGD001049 Flank Pain C0016199 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 6 BXGD001050 Flatfoot C0016202 phenotype C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality HP:0040064 Abnormality of limbs T190 Anatomical Abnormality 285 BXGD001051 Flatulence C0016204 R14.3 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 11 BXGD001052 Vitreous floaters C0016242 H43.39 phenotype Finding HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T033 Finding 4 BXGD001053 Fluoride Poisoning C0016325 disease C25 Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 6 BXGD001054 Flushing C0016382 R23.2 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0001574 Abnormality of the integument T184 Sign or Symptom 83 BXGD001055 Focal Dermal Hypoplasia C0016395 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD001056 Focal Infection C0016397 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 11 BXGD001057 Epilepsy, Partial, Motor C0016399 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD001058 Folic Acid Deficiency C0016412 E53.8 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 70 BXGD001059 Folliculitis C0016436 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD001060 Food Allergy C0016470 phenotype C20 Immune System Diseases Pathologic Function DOID:7 disease of anatomical entity T046 Pathologic Function 9 BXGD001061 Food Poisoning C0016479 disease C25 Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 1 BXGD001062 Foot Deformities C0016506 group C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064 Abnormality of limbs T190 Anatomical Abnormality 66 BXGD001063 Congenital Foot Deformity C0016508 Q66.9 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 18 BXGD001064 Foot Diseases C0016510 group C17;C05 Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD001065 Foot pain C0016512 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 1 BXGD001066 Foot-and-Mouth Disease C0016514 B08.8 group C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 56 BXGD001067 Foramen Ovale, Patent C0016522 Q21.1 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 73 BXGD001068 Forced expiratory volume function C0016529 phenotype Organ or Tissue Function T042 Organ or Tissue Function 272 BXGD001069 Formication C0016579 R20.2 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 2 BXGD001070 Fowlpox C0016629 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 24 BXGD001071 Pathological fracture C0016663 M84.4 phenotype C26 Wounds and Injuries Pathologic Function HP:0000924 Abnormality of the skeletal system T046 Pathologic Function 35 BXGD001072 Fragile X Syndrome C0016667 Q99.2 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 194 BXGD001073 Freckles C0016689 L81.2 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 45 BXGD001074 Friedreich Ataxia C0016719 G11.11 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 88 BXGD001075 Frigidity C0016722 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD001076 Froehlich's Syndrome C0016724 E23.6 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD001077 Hereditary fructose intolerance syndrome C0016751 E74.12 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 6 BXGD001078 Fructose-1,6-Diphosphatase Deficiency C0016756 E74.19 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD001079 Fuchs Endothelial Dystrophy C0016781 H18.51 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 94 BXGD001080 Fuchs' heterochromic cyclitis C0016782 H20.81 disease C11 Eye Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 12 BXGD001081 Fucosidase Deficiency Disease C0016788 E77.1 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD001082 Functional disorder of intestine C0016807 K59.9 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD001083 Congenital pectus excavatum C0016842 Q67.6 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 272 BXGD001084 Furunculosis C0016867 L02.92 disease C01;C17;C22 Infections; Skin and Connective Tissue Diseases; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD001085 Galactosemias C0016952 E74.21 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 29 BXGD001086 Gall Bladder Diseases C0016977 K82.9 group C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 42 BXGD001087 gallbladder neoplasm C0016978 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 51 BXGD001088 Gambling C0016995 phenotype F03;F01 Mental Disorders; Behavior and Behavior Mechanisms Individual Behavior DOID:150 disease of mental health T055 Individual Behavior 1 BXGD001089 Ganglioneuroma C0017075 disease C04 Neoplasms Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 88 BXGD001090 Gangliosidoses C0017083 E75.10 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 6 BXGD001091 Gangrene C0017086 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0025142 Constitutional symptom T047 Disease or Syndrome 69 BXGD001092 Gardner Syndrome C0017097 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 29 BXGD001093 Gas Gangrene C0017105 A48.0 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 3 BXGD001094 Gastric Varix C0017145 I86.4 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 5 BXGD001095 Gastrinoma C0017150 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 49 BXGD001096 Gastritis C0017152 K29.7 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 292 BXGD001097 Gastritis, Atrophic C0017154 K29.4 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 203 BXGD001098 Gastritis, Hypertrophic C0017155 K29.6 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD001099 Gastroenteritis C0017160 K52.9 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 94 BXGD001100 Gastroenteritis, Transmissible, of Swine C0017162 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD001101 Gastroesophageal reflux disease C0017168 K21 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 446 BXGD001102 Gastrointestinal Diseases C0017178 group C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 144 BXGD001103 Gastrointestinal Hemorrhage C0017181 K92.2 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function HP:0025031;HP:0001871;HP:0001626 Abnormality of the digestive system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T046 Pathologic Function 122 BXGD001104 Gastrointestinal Neoplasms C0017185 group C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 182 BXGD001105 Gaucher Disease C0017205 E75.22 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 143 BXGD001106 Psychosexual identity disorder C0017250 F64.9 group F03;F01 Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD001107 Generalized Nonconvulsive Seizure Disorder C0017332 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD001108 Female Genital Diseases C0017411 group C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 21 BXGD001109 Genital Diseases, Male C0017412 N50.9 group C12 Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD001110 Genital Neoplasms, Female C0017416 group C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD001111 Gerstmann-Straussler-Scheinker Disease C0017495 A81.82 disease C16;C01;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 56 BXGD001112 Giant Cell Tumors C0017525 group C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 76 BXGD001113 Angiolymphoid hyperplasia C0017531 D47.Z2 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 22 BXGD001114 Giardiasis C0017536 A07.1 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 48 BXGD001115 Gigantism C0017547 disease C05;C19 Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD001116 Gilbert Disease (disorder) C0017551 E80.4 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 40 BXGD001117 Gingival Diseases C0017563 group C07 Stomatognathic Diseases Disease or Syndrome HP:0002715;HP:0000152 Abnormality of the immune system; Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD001118 Gingival Hemorrhage C0017565 phenotype C23;C07 Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Pathologic Function HP:0001871;HP:0000152 Abnormality of blood and blood-forming tissues; Abnormality of head or neck T046 Pathologic Function 50 BXGD001119 Gingival Hypertrophy C0017567 disease C07 Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD001120 Gingival Neoplasms C0017570 group C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 1 BXGD001121 Gingival Recession C0017572 K06.0 disease C07 Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD001122 Gingivitis C0017574 K05.10 disease C01;C07 Infections; Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 152 BXGD001123 Necrotizing Ulcerative Gingivitis C0017575 A69.1 disease C01;C07 Infections; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD001124 Chronic desquamative gingivitis C0017577 K05.1 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD001125 Glaucoma C0017601 H40.9 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 770 BXGD001126 Angle Closure Glaucoma C0017605 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 94 BXGD001127 Primary angle-closure glaucoma C0017606 H40.20 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 87 BXGD001128 Glaucoma, Neovascular C0017609 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 23 BXGD001129 Glaucoma, Open-Angle C0017612 H40.1 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 130 BXGD001130 Glaucoma, Suspect C0017614 H40.0 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD001131 Glioblastoma C0017636 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3177 BXGD001132 Glioma C0017638 disease C04 Neoplasms Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3097 BXGD001133 Gliosis C0017639 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 102 BXGD001134 Globus Hystericus C0017650 phenotype F03 Mental Disorders Sign or Symptom T184 Sign or Symptom 3 BXGD001135 Glomus Tumor C0017653 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 18 BXGD001136 Glomerular Filtration Rate C0017654 phenotype Diagnostic Procedure T060 Diagnostic Procedure 399 BXGD001137 Glomerulitis (disorder) C0017657 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD001138 Glomerulonephritis C0017658 N05 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119;HP:0002715 Abnormality of the genitourinary system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 391 BXGD001139 IGA Glomerulonephritis C0017661 disease C13;C12;C20 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 456 BXGD001140 Glomerulonephritis, Membranoproliferative C0017662 disease C13;C12;C20 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome HP:0000119;HP:0002715 Abnormality of the genitourinary system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 57 BXGD001141 Membranous glomerulonephritis C0017665 N03.2 disease C13;C12;C20 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome HP:0000119;HP:0002715 Abnormality of the genitourinary system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 197 BXGD001142 Nodular glomerulosclerosis C0017667 disease C13;C12;C19 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 59 BXGD001143 Focal glomerulosclerosis C0017668 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 281 BXGD001144 Glomus Jugulare Tumor C0017671 disease C04 Neoplasms Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm DOID:630;DOID:7;DOID:14566 genetic disease; disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD001145 Glossalgia C0017672 K14.6 phenotype C23;C07 Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Sign or Symptom HP:0025142;HP:0000152 Constitutional symptom; Abnormality of head or neck T184 Sign or Symptom 11 BXGD001146 Glossitis C0017675 K14.0 disease C07 Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD001147 Glossitis, Benign Migratory C0017677 K14.1 disease C07 Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 53 BXGD001148 Glucagonoma C0017689 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 23 BXGD001149 Glucose tolerance test C0017741 phenotype Laboratory Procedure T059 Laboratory Procedure 17 BXGD001150 Glycogen Storage Disease C0017919 E74.00 group C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 63 BXGD001151 Glycogen Storage Disease Type I C0017920 E74.01 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 24 BXGD001152 Glycogen storage disease type II C0017921 E74.02 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 194 BXGD001153 Glycogen Storage Disease Type III C0017922 E74.03 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 8 BXGD001154 Glycogen Storage Disease Type IV C0017923 E74.09 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 10 BXGD001155 Glycogen Storage Disease Type V C0017924 E74.04 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 22 BXGD001156 Glycogen Storage Disease Type VI C0017925 E74.09 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 15 BXGD001157 Glycogen Storage Disease Type VII C0017926 E74.09 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 9 BXGD001158 Glycogen Storage Disease Type VIII C0017927 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 7 BXGD001159 Glycosuria C0017979 R81 phenotype C18;C13;C12 Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 53 BXGD001160 Glycosuria, Renal C0017980 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD001161 Gnathostomiasis C0018013 B83.1 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 5 BXGD001162 Goiter C0018021 E04.9 phenotype C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 142 BXGD001163 Endemic goiter C0018022 E01.0 disease C19 Endocrine System Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 3 BXGD001164 Nodular Goiter C0018023 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 55 BXGD001165 Hypertension, Goldblatt C0018036 disease C13;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD001166 Gonadal Disorders C0018050 group C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD001167 Gonadal Dysgenesis C0018051 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T019 Congenital Abnormality 53 BXGD001168 Gonadal Dysgenesis, 46,XY C0018054 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 29 BXGD001169 Gonadal Dysgenesis, Mixed C0018055 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD001170 Gonococcal urethritis C0018078 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD001171 Gonorrhea C0018081 A54.9 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 261 BXGD001172 Gout C0018099 M10.9 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 205 BXGD001173 Gradenigo Syndrome C0018121 disease C01;C05;C09 Infections; Musculoskeletal Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD001174 Graft Occlusion, Vascular C0018128 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 2 BXGD001175 Graft Rejection C0018129 phenotype Organ or Tissue Function T042 Organ or Tissue Function 47 BXGD001176 Graft-vs-Host Disease C0018133 D89.813 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 447 BXGD001177 Granular Dystrophy, Corneal C0018179 H18.53 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 8 BXGD001178 Granuloma C0018188 phenotype C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Pathologic Function T046 Pathologic Function 24 BXGD001179 Granuloma, Foreign-Body C0018193 phenotype C23;C26 Pathological Conditions, Signs and Symptoms; Wounds and Injuries Pathologic Function T046 Pathologic Function 1 BXGD001180 Giant Cell Granuloma C0018194 M27.1 phenotype C23;C05;C07 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Stomatognathic Diseases Pathologic Function DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T046 Pathologic Function 4 BXGD001181 Granuloma, Plasma Cell C0018199 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 2 BXGD001182 Granuloma, Respiratory Tract C0018200 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Pathologic Function T046 Pathologic Function 4 BXGD001183 Granulomatous Angiitis C0018202 disease C20;C10;C14 Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD001184 Chronic granulomatous disease C0018203 D71 group C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 105 BXGD001185 Granulomatous prostatitis C0018204 N41.4 disease C12 Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD001186 granulosa cell tumor C0018206 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 88 BXGD001187 Graves Disease C0018213 E05.0 disease C11;C20;C19 Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 585 BXGD001188 Groenouw's Dystrophies C0018245 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD001189 Growth Disorders C0018273 group C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 39 BXGD001190 Guillain-Barre Syndrome C0018378 G61.0 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 163 BXGD001191 Gynandroblastoma C0018413 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD001192 Gynecomastia C0018418 N62 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0000769 Abnormality of the breast DOID:7 disease of anatomical entity T047 Disease or Syndrome 121 BXGD001193 Gyrate Atrophy C0018425 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD001194 Haemophilus Infections C0018482 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 8 BXGD001195 Hair Color C0018498 phenotype Organism Attribute T032 Organism Attribute 130 BXGD001196 Hair Diseases C0018500 group C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 17 BXGD001197 Halitosis C0018520 R19.6 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025142;HP:0000152 Constitutional symptom; Abnormality of head or neck T184 Sign or Symptom 48 BXGD001198 Hallermann's Syndrome C0018522 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 13 BXGD001199 Hallervorden-Spatz Syndrome C0018523 G23.0 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 22 BXGD001200 Hallucinations C0018524 R44.3 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 178 BXGD001201 Hallux Valgus C0018536 disease C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 61 BXGD001202 Hamartoma C0018552 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm T191 Neoplastic Process 91 BXGD001203 Hamartoma Syndrome, Multiple C0018553 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process DOID:630;DOID:7 genetic disease; disease of anatomical entity T191 Neoplastic Process 270 BXGD001204 Hand deformities C0018564 group C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064 Abnormality of limbs T190 Anatomical Abnormality 60 BXGD001205 Congenital Hand Deformities C0018566 group C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 15 BXGD001206 Hand, Foot and Mouth Disease C0018572 B08.4 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 63 BXGD001207 Melanoma, Harding-Passey C0018598 disease C04 Neoplasms Neoplastic Process; Experimental Model of Disease T191;T050 Neoplastic Process; Experimental Model of Disease 7 BXGD001208 Hartnup Disease C0018609 E72.02 disease C16;C18;C13;C12;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 12 BXGD001209 Hashish Abuse C0018614 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 10 BXGD001210 Hay fever C0018621 J30.1 disease C08;C20;C09 Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0002715;HP:0000152 Abnormality of the immune system; Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 114 BXGD001211 Head and Neck Neoplasms C0018671 group C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:14566 disease of cellular proliferation T191 Neoplastic Process 124 BXGD001212 Head Banging C0018672 phenotype F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 7 BXGD001213 Head Neoplasms C0018675 group C04 Neoplasms Neoplastic Process T191 Neoplastic Process 24 BXGD001214 Headache C0018681 R51 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 338 BXGD001215 Hearing Loss, Bilateral C0018775 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD001216 Hearing Loss, Central C0018776 H90.5 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD001217 Conductive hearing loss C0018777 H90.2 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000598 Abnormality of the ear T047 Disease or Syndrome 291 BXGD001218 Hearing Loss, High-Frequency C0018780 H91.9 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000598 Abnormality of the ear DOID:7 disease of anatomical entity T047 Disease or Syndrome 35 BXGD001219 Noise-induced hearing loss C0018781 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Injury or Poisoning T037 Injury or Poisoning 33 BXGD001220 Sensorineural Hearing Loss (disorder) C0018784 H90.5 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000598 Abnormality of the ear DOID:7 disease of anatomical entity T047 Disease or Syndrome 783 BXGD001221 Cardiac Arrest C0018790 I46 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 411 BXGD001222 Heart Block C0018794 I45.9 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 58 BXGD001223 Congenital Heart Defects C0018798 Q24.9 group C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T019 Congenital Abnormality 406 BXGD001224 Heart Diseases C0018799 I51.9 group C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 537 BXGD001225 Cardiomegaly C0018800 I51.7 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 267 BXGD001226 Heart failure C0018801 I50 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1499 BXGD001227 Congestive heart failure C0018802 I50.9 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1760 BXGD001228 Heart Function Tests C0018803 phenotype Diagnostic Procedure T060 Diagnostic Procedure 17 BXGD001229 Heart murmur C0018808 R01.1 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 31 BXGD001230 Heart Neoplasm C0018809 disease C04;C14 Neoplasms; Cardiovascular Diseases Neoplastic Process HP:0002664;HP:0001626 Neoplasm; Abnormality of the cardiovascular system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 17 BXGD001231 heart rate C0018810 phenotype Clinical Attribute T201 Clinical Attribute 36 BXGD001232 Myocardial rupture C0018813 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD001233 Heart Rupture, Post-Infarction C0018814 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD001234 Heart Septal Defects C0018816 Q21.9 group C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T019 Congenital Abnormality 77 BXGD001235 Atrial Septal Defects C0018817 Q21.1 group C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 384 BXGD001236 Ventricular Septal Defects C0018818 Q21.0 group C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T019 Congenital Abnormality 426 BXGD001237 Heart valve disease C0018824 group C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 79 BXGD001238 Heartburn C0018834 R12 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025031 Abnormality of the digestive system T184 Sign or Symptom 139 BXGD001239 Heartwater Disease C0018835 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD001240 Heavy Chain Disease C0018852 C88.2 group C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 6 BXGD001241 gamma-Chain Disease C0018854 C88.2 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD001242 Heberden node C0018862 phenotype C05 Musculoskeletal Diseases Disease or Syndrome HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T047 Disease or Syndrome 8 BXGD001243 Helminthiasis C0018889 B83.9 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 59 BXGD001244 Hemangioendothelioma C0018915 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 26 BXGD001245 Hemangioma C0018916 D18.00 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0001626 Neoplasm; Abnormality of the cardiovascular system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 256 BXGD001246 Hemangioma, Cavernous C0018920 D18.0 disease C04;C15;C14 Neoplasms; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process HP:0002664;HP:0001626 Neoplasm; Abnormality of the cardiovascular system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 36 BXGD001247 hemangiopericytoma C0018922 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 32 BXGD001248 Hemangiosarcoma C0018923 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 162 BXGD001249 Hemarthrosis C0018924 M25.0 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function HP:0001871;HP:0000924;HP:0001626 Abnormality of blood and blood-forming tissues; Abnormality of the skeletal system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T046 Pathologic Function 13 BXGD001250 Hematemesis C0018926 K92.0 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Sign or Symptom HP:0025031;HP:0001871;HP:0001626 Abnormality of the digestive system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T184 Sign or Symptom 14 BXGD001251 Hematochezia C0018932 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome HP:0025031;HP:0001871;HP:0001626 Abnormality of the digestive system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T047 Disease or Syndrome 37 BXGD001252 Hematocrit procedure C0018935 phenotype Laboratory Procedure T059 Laboratory Procedure 138 BXGD001253 Hematological Disease C0018939 D75.9 group C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 255 BXGD001254 Hematoma C0018944 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 1 BXGD001255 Hematoma, Subdural C0018946 phenotype C23;C10;C14;C26 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases; Wounds and Injuries Pathologic Function HP:0000707;HP:0001871;HP:0001626 Abnormality of the nervous system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T046 Pathologic Function 3 BXGD001256 Hematomyelia C0018949 G95.19 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD001257 Extramedullary Hematopoiesis Function C0018952 phenotype Organ or Tissue Function T042 Organ or Tissue Function 16 BXGD001258 Hematuria C0018965 R31.9 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T047 Disease or Syndrome 235 BXGD001259 Hemeralopia C0018975 H53.11 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD001260 Hemianopsia C0018979 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 41 BXGD001261 Hemicrania migraine C0018984 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD001262 Hemimelia C0018987 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD001263 Hemiparesis C0018989 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 91 BXGD001264 Hemiplegia C0018991 G81.9 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T184 Sign or Symptom 41 BXGD001265 Hemochromatosis C0018995 E83.110 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 93 BXGD001266 Hemoglobin C Disease C0019021 D58.2 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD001267 Hemoglobin F Disease C0019025 D56.4 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 27 BXGD001268 Hemoglobin SC Disease C0019034 D57.20 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD001269 Hemoglobinopathies C0019045 D58.2 group C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 80 BXGD001270 Hemoglobinuria C0019048 R82.3 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system DOID:7 disease of anatomical entity T033 Finding 8 BXGD001271 Hemoglobinuria, Paroxysmal C0019050 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD001272 Hemolysis (disorder) C0019054 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 6 BXGD001273 Hemolytic-Uremic Syndrome C0019061 D59.3 disease C13;C12;C15 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 110 BXGD001274 Hemopericardium C0019064 phenotype C14 Cardiovascular Diseases Pathologic Function HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T046 Pathologic Function 2 BXGD001275 Hemoperitoneum C0019065 K66.1 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function HP:0025031 Abnormality of the digestive system T046 Pathologic Function 1 BXGD001276 Reactive Hemophagocytic Syndrome C0019068 D76.2 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD001277 Hemophilia A C0019069 D66 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 143 BXGD001278 Hemoptysis C0019079 R04.2 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom HP:0002086 Abnormality of the respiratory system T184 Sign or Symptom 67 BXGD001279 Hemorrhage C0019080 R58 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 47 BXGD001280 Hemorrhagic Disorders C0019087 D69.9 group C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 30 BXGD001281 Hemorrhagic Fever, Argentinian C0019097 A96.0 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 9 BXGD001282 Hemorrhagic Fever, Crimean C0019099 A98.0 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 47 BXGD001283 Severe Dengue C0019100 A91 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 117 BXGD001284 Hemorrhagic Fever with Renal Syndrome C0019101 A98.5 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 51 BXGD001285 Hemorrhagic Fevers, Viral C0019104 A99 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 57 BXGD001286 Hemorrhoids C0019112 K64 disease C06;C14 Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 24 BXGD001287 Hemosiderosis C0019114 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 8 BXGD001288 Hemothorax C0019123 J94.2 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Pathologic Function HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T046 Pathologic Function 1 BXGD001289 Hepatic Coma C0019147 K72.91 disease C06;C18;C10 Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD001290 Hepatic Encephalopathy C0019151 K72 disease C06;C18;C10 Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 100 BXGD001291 Hepatic Vein Thrombosis C0019154 I82.0 disease C06;C14 Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 23 BXGD001292 Hepatic Veno-Occlusive Disease C0019156 K76.5 disease C06;C14 Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 37 BXGD001293 Hepatitis C0019158 K75.9 group C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 656 BXGD001294 Hepatitis A C0019159 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 451 BXGD001295 Hepatitis B C0019163 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 1449 BXGD001296 Hepatitis, Alcoholic C0019187 K70.1 disease C06;C25 Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 133 BXGD001297 Hepatitis, Animal C0019188 disease C06;C01;C22 Digestive System Diseases; Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD001298 Hepatitis, Chronic C0019189 K73.9 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 224 BXGD001299 Hepatitis, Toxic C0019193 disease C06;C25 Digestive System Diseases; Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 412 BXGD001300 Hepatitis, Viral, Human C0019195 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD001301 Hepatitis C C0019196 B19.20 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 1768 BXGD001302 Hepatolenticular Degeneration C0019202 E83.01 disease C16;C06;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 146 BXGD001303 Hepatoma, Morris C0019207 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process; Experimental Model of Disease T191;T050 Neoplastic Process; Experimental Model of Disease 124 BXGD001304 Hepatoma, Novikoff C0019208 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process; Experimental Model of Disease T191;T050 Neoplastic Process; Experimental Model of Disease 125 BXGD001305 Hepatomegaly C0019209 R16.0 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding HP:0025031 Abnormality of the digestive system T033 Finding 523 BXGD001306 Hepatorenal Syndrome C0019212 K76.7 disease C06;C13;C12 Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 25 BXGD001307 Hepatosplenomegaly C0019214 R16.2 phenotype C23;C06;C15 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases Sign or Symptom HP:0025031;HP:0002715;HP:0001626 Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system T184 Sign or Symptom 127 BXGD001308 Angioedemas, Hereditary C0019243 disease C16;C17;C20;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 54 BXGD001309 Hereditary factor I deficiency disease C0019250 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD001310 Hermaphroditism C0019269 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 34 BXGD001311 Hernia C0019270 K46 phenotype C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality HP:0003549 Abnormality of connective tissue DOID:7 disease of anatomical entity T190 Anatomical Abnormality 136 BXGD001312 Diaphragmatic Hernia C0019284 K44.9 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 78 BXGD001313 Hernia, Femoral C0019288 K41 disease C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality HP:0025031;HP:0003549 Abnormality of the digestive system; Abnormality of connective tissue T020 Acquired Abnormality 18 BXGD001314 Hernia, Inguinal C0019294 K40 phenotype C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality HP:0025031;HP:0003549 Abnormality of the digestive system; Abnormality of connective tissue DOID:7 disease of anatomical entity T190 Anatomical Abnormality 225 BXGD001315 Inguinal Hernia, Direct C0019295 K40 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD001316 Inguinal Hernia, Indirect C0019296 K40 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD001317 Umbilical hernia C0019322 K42.9 phenotype C23;C16;C13 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome HP:0025031;HP:0003549 Abnormality of the digestive system; Abnormality of connective tissue DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T047 Disease or Syndrome 27 BXGD001318 Ventral Hernia C0019326 K43.9 phenotype C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality HP:0025031;HP:0003549 Abnormality of the digestive system; Abnormality of connective tissue T190 Anatomical Abnormality 13 BXGD001319 Heroin Dependence C0019337 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 100 BXGD001320 Herpangina C0019338 B08.5 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 1 BXGD001321 Herpes NOS C0019340 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 114 BXGD001322 Genital Herpes C0019342 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 17 BXGD001323 Pemphigoid Gestationis C0019343 O26.4 phenotype C13;C17 Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD001324 Herpes Labialis C0019345 B00.1 disease C01;C17;C07 Infections; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD001325 Herpes Simplex Infections C0019348 B00 group C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 645 BXGD001326 Keratitis, Herpetic C0019357 disease C01;C11 Infections; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 23 BXGD001327 Herpes zoster disease C0019360 B02 group C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 51 BXGD001328 Herpes Zoster Ophthalmicus C0019364 B02.30 disease C01;C11 Infections; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD001329 Herpesviridae Infections C0019372 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 62 BXGD001330 Herpetic meningoencephalitis C0019385 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD001331 Deficiency, Hexosediphosphatase C0019489 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD001332 Adenoma, Sweat Gland C0019522 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD001333 Hip Contracture C0019553 M24.55 disease C05 Musculoskeletal Diseases Acquired Abnormality T020 Acquired Abnormality 34 BXGD001334 Hip Dislocation, Congenital C0019555 Q65.2 disease C16;C05;C26 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 6 BXGD001335 Hip joint pain C0019559 M25.559 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom HP:0000924 Abnormality of the skeletal system T184 Sign or Symptom 24 BXGD001336 Von Hippel-Lindau Syndrome C0019562 Q85.8 disease C16;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 174 BXGD001337 Hirschsprung Disease C0019569 Q43.1 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome HP:0025031;HP:0000707 Abnormality of the digestive system; Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 384 BXGD001338 Hirsutism C0019572 L68.0 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T033 Finding 88 BXGD001339 Histiocytosis C0019618 disease C15 Hemic and Lymphatic Diseases Neoplastic Process HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T191 Neoplastic Process 32 BXGD001340 Histiocytosis, Langerhans-Cell C0019621 C96.6 disease C08;C15 Respiratory Tract Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 104 BXGD001341 Malignant histiocytosis C0019623 C96.A disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 19 BXGD001342 Histiocytosis, Non-Langerhans-Cell C0019624 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD001343 Sinus histiocytosis C0019625 D76.3 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD001344 Histomoniasis C0019640 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD001345 Histoplasmosis C0019655 B39 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 16 BXGD001346 HIV Infections C0019693 B20-B20 group C01;C20 Infections; Immune System Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 807 BXGD001347 HIV Seropositivity C0019699 phenotype C01;C20 Infections; Immune System Diseases Laboratory or Test Result T034 Laboratory or Test Result 1 BXGD001348 Hereditary, Type VII, Motor and Sensory Neuropathy C0019816 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD001349 Hoarseness C0019825 R49.0 phenotype C23;C08;C10;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom HP:0001608 Abnormality of the voice T184 Sign or Symptom 84 BXGD001350 Hodgkin Disease C0019829 C81.9 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process HP:0002664;HP:0001871 Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 900 BXGD001351 Homocystinuria C0019880 E72.11 disease C16;C18;C17;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 39 BXGD001352 Hookworm Infections C0019911 B76.9 group C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 13 BXGD001353 Horner Syndrome C0019937 G90.2 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000707;HP:0000478 Abnormality of the nervous system; Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD001354 Hostility C0020039 R45.5 phenotype F01 Behavior and Behavior Mechanisms Mental Process HP:0000707 Abnormality of the nervous system T041 Mental Process 1 BXGD001355 Howell-Jolly Bodies C0020058 disease Acquired Abnormality T020 Acquired Abnormality 5 BXGD001356 Hereditary Sensory Autonomic Neuropathy, Type 1 C0020071 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 32 BXGD001357 Hereditary Sensory Autonomic Neuropathy, Type 2 C0020072 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD001358 HSAN Type IV C0020074 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD001359 Hereditary Sensory Autonomic Neuropathy, Type 5 C0020075 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD001360 HTLV-I Infections C0020097 group C01;C20 Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 134 BXGD001361 HTLV-II Infections C0020102 group C01;C20 Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD001362 Hunger C0020175 phenotype F01 Behavior and Behavior Mechanisms Sign or Symptom T184 Sign or Symptom 70 BXGD001363 Huntington Disease C0020179 G10 disease C16;C10;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 978 BXGD001364 Hyaline Membrane Disease C0020192 P22.0 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD001365 Hydatidiform Mole C0020217 O01 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 123 BXGD001366 Polyhydramnios C0020224 O40 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Pathologic Function HP:0001197 Abnormality of prenatal development or birth DOID:7 disease of anatomical entity T046 Pathologic Function 208 BXGD001367 Hydranencephaly C0020225 Q04.3 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system DOID:630;DOID:7;DOID:225;DOID:150;DOID:0080015 genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder T019 Congenital Abnormality 15 BXGD001368 Hydroa Vacciniforme C0020241 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD001369 Hydrocephalus C0020255 G91 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 473 BXGD001370 Congenital Hydrocephalus C0020256 Q03 disease C10 Nervous System Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 39 BXGD001371 Hydrocephalus, Normal Pressure C0020258 G91.2 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 44 BXGD001372 Hydronephrosis C0020295 N13.30 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 253 BXGD001373 Hydrophthalmos C0020302 Q15.0 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 60 BXGD001374 Hydrops Fetalis C0020305 P83.2 disease C23;C16;C13;C20;C15 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001939;HP:0001197 Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth T047 Disease or Syndrome 92 BXGD001375 Hydrothorax C0020312 J94.8 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0001939;HP:0002086 Abnormality of metabolism/homeostasis; Abnormality of the respiratory system T047 Disease or Syndrome 8 BXGD001376 Hymenolepiasis C0020413 B71.0 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 1 BXGD001377 Hyperaldosteronism C0020428 E26 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 84 BXGD001378 Hyperalgesia C0020429 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 451 BXGD001379 Hyperbilirubinemia C0020433 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 131 BXGD001380 Hyperbilirubinemia, Hereditary C0020435 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 8 BXGD001381 Hypercalcemia C0020437 E83.52 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667 disease of metabolism T047 Disease or Syndrome 157 BXGD001382 Hypercalciuria C0020438 R82.994 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 60 BXGD001383 Hypercapnia C0020440 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0002086 Abnormality of the respiratory system T033 Finding 11 BXGD001384 Hypercementosis C0020441 K03.4 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD001385 Hypercholesterolemia C0020443 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 489 BXGD001386 Hypercholesterolemia, Familial C0020445 E78.01 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 203 BXGD001387 Hyperdistention C0020449 phenotype C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality T190 Anatomical Abnormality 12 BXGD001388 Hyperemesis Gravidarum C0020450 O21 phenotype C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Sign or Symptom HP:0001197 Abnormality of prenatal development or birth T184 Sign or Symptom 21 BXGD001389 Hyperemia C0020452 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 64 BXGD001390 Hyperesthesia C0020453 R20.3 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 6 BXGD001391 Hypergammaglobulinemia C0020455 disease C23;C20;C15 Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T047 Disease or Syndrome 36 BXGD001392 Hyperglycemia C0020456 R73.9 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667 disease of metabolism T047 Disease or Syndrome 1098 BXGD001393 Hyperhidrosis disorder C0020458 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 114 BXGD001394 Hyperinsulinism C0020459 E16.1 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939;HP:0000818 Abnormality of metabolism/homeostasis; Abnormality of the endocrine system DOID:0014667;DOID:7 disease of metabolism; disease of anatomical entity T047 Disease or Syndrome 620 BXGD001395 Hyperkalemia C0020461 E87.5 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 32 BXGD001396 Hyperlipidemia C0020473 E78.5 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 472 BXGD001397 Hyperlipidemia, Familial Combined C0020474 E78.49 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 91 BXGD001398 Hyperlipoproteinemias C0020476 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 49 BXGD001399 Hyperlipoproteinemia Type III C0020479 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 28 BXGD001400 Hyperlipoproteinemia Type IV C0020480 E78.1 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 11 BXGD001401 Hyperlipoproteinemia Type V C0020481 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD001402 Hypernatremia C0020488 E87.0 phenotype C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 59 BXGD001403 Hyperopia C0020490 H52.0 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 142 BXGD001404 Hyperostosis C0020492 M89.3 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 50 BXGD001405 Hyperostosis Frontalis Interna C0020494 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T047 Disease or Syndrome 4 BXGD001406 Cortical Congenital Hyperostosis C0020497 M89.8 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD001407 Hyperostosis, Diffuse Idiopathic Skeletal C0020498 M48.1 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 9 BXGD001408 Hyperoxaluria C0020500 E72.53 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 49 BXGD001409 Primary Hyperoxaluria C0020501 E72.53 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 16 BXGD001410 Hyperparathyroidism C0020502 E21.3 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 111 BXGD001411 Hyperparathyroidism, Secondary C0020503 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 68 BXGD001412 Hyperphagia C0020505 R63.2 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0000707 Abnormality of the nervous system T033 Finding 60 BXGD001413 Hyperplasia C0020507 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 131 BXGD001414 Hyperprolactinemia C0020514 E22.1 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system DOID:0014667 disease of metabolism T047 Disease or Syndrome 48 BXGD001415 Hypersensitivity C0020517 T78.40 group C20 Immune System Diseases Pathologic Function HP:0002715 Abnormality of the immune system DOID:7 disease of anatomical entity T046 Pathologic Function 90 BXGD001416 Delayed Hypersensitivity C0020522 phenotype C20 Immune System Diseases Pathologic Function T046 Pathologic Function 7 BXGD001417 Immediate hypersensitivity C0020523 phenotype C20 Immune System Diseases Pathologic Function T046 Pathologic Function 14 BXGD001418 Disorders of Excessive Somnolence C0020524 group C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 2 BXGD001419 Hypersomnia with Periodic Respiration C0020529 disease C08;C10 Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD001420 Hypersplenism C0020532 D73.1 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0025031;HP:0002715;HP:0001626 Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 22 BXGD001421 Orbital separation excessive C0020534 Q75.2 phenotype C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 590 BXGD001422 Hypertensive disease C0020538 I10 group C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 2322 BXGD001423 Malignant Hypertension C0020540 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 23 BXGD001424 Portal Hypertension C0020541 K76.6 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0001626 Abnormality of the digestive system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 167 BXGD001425 Pulmonary Hypertension C0020542 I27.20 phenotype C08 Respiratory Tract Diseases Pathologic Function DOID:7 disease of anatomical entity T046 Pathologic Function 156 BXGD001426 Renal hypertension C0020544 disease C13;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 36 BXGD001427 Hypertension, Renovascular C0020545 I15.0 disease C13;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000119;HP:0001626 Abnormality of the genitourinary system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 78 BXGD001428 Hypertensive crisis C0020546 I16 phenotype C10;C14 Nervous System Diseases; Cardiovascular Diseases Pathologic Function HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T046 Pathologic Function 19 BXGD001429 Hyperthyroidism C0020550 E05.9 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 279 BXGD001430 Hyperthyroxinemia C0020551 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD001431 Hypertrichosis C0020555 L68.9 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 92 BXGD001432 Hypertriglyceridemia C0020557 phenotype C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 340 BXGD001433 Hypertrophy C0020564 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 18 BXGD001434 Hyperventilation C0020578 R06.4 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding HP:0002086 Abnormality of the respiratory system T033 Finding 31 BXGD001435 Hypesthesia C0020580 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 33 BXGD001436 Hyphema C0020581 H21.0 phenotype C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function HP:0001871;HP:0000478;HP:0001626 Abnormality of blood and blood-forming tissues; Abnormality of the eye; Abnormality of the cardiovascular system T046 Pathologic Function 2 BXGD001437 Hypoactive Sexual Desire Disorder C0020594 F52.0 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 7 BXGD001438 Hypoaldosteronism C0020595 E27.40 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD001439 Hypobetalipoproteinemias C0020597 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 20 BXGD001440 Hypocalcemia C0020598 E83.51 phenotype C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 94 BXGD001441 Hypocalciuria C0020599 phenotype C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T047 Disease or Syndrome 16 BXGD001442 Hypochondriasis C0020604 F45.2 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 3 BXGD001443 Hypodontia C0020608 K00.0 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T019 Congenital Abnormality 218 BXGD001444 Hypogalactia C0020610 O92.4 disease C13;C17 Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD001445 Hypoglycemia C0020615 E16.2 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:7 disease of metabolism; disease of anatomical entity T047 Disease or Syndrome 420 BXGD001446 Hypoglycemic coma C0020617 E15 disease C23;C18;C10;C19 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 19 BXGD001447 Hypogonadism C0020619 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000119;HP:0000818 Abnormality of the genitourinary system; Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 305 BXGD001448 Hypohidrosis C0020620 L74.4 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 69 BXGD001449 Hypokalemia C0020621 E87.6 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 61 BXGD001450 Hypomenorrhea C0020624 N91.5 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 20 BXGD001451 Hyponatremia C0020625 E87.1 phenotype C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 109 BXGD001452 Hypoparathyroidism C0020626 E20.9 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 92 BXGD001453 Hypopharyngeal Neoplasms C0020627 group C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD001454 Hypophosphatasia C0020630 E83.39 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 27 BXGD001455 Hypopituitarism C0020635 E23.0 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 69 BXGD001456 underdevelopment C0020636 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 22 BXGD001457 Hypoproteinemia C0020639 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 24 BXGD001458 Inherited Factor II deficiency C0020640 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD001459 Hypotension C0020649 I95.9 phenotype C14 Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 125 BXGD001460 Hypotension, Orthostatic C0020651 I95.1 phenotype C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 82 BXGD001461 Hypothermia, natural C0020672 T68 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 52 BXGD001462 Hypothyroidism C0020676 E03.9 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 613 BXGD001463 Hypotrichosis C0020678 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 69 BXGD001464 Hysteria C0020701 phenotype F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 2 BXGD001465 Type II Mucolipidosis C0020725 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 43 BXGD001466 Ichthyoses C0020757 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 194 BXGD001467 Congenital ichthyosis C0020758 Q80 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 80 BXGD001468 Profound Mental Retardation C0020796 F73 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 160 BXGD001469 Idiopathic Hypercatabolic Hypoproteinemia C0020800 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD001470 Ileal Diseases C0020875 group C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD001471 Ileitis C0020877 K52.9 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 44 BXGD001472 Illusions C0020903 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD001473 Immune Complex Diseases C0020951 group C20 Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD001474 Angioimmunoblastic Lymphadenopathy C0020981 C86.5 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 109 BXGD001475 Immunologic Deficiency Syndromes C0021051 D84.9 group C20 Immune System Diseases Disease or Syndrome HP:0002715 Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 973 BXGD001476 Immune System Diseases C0021053 D89.9 group C20 Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 451 BXGD001477 Immunoproliferative Disorders C0021070 C88.9 group C20 Immune System Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 1 BXGD001478 Immunoproliferative Small Intestinal Disease C0021071 C88.3 disease C06;C04;C20;C15 Digestive System Diseases; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 8 BXGD001479 Impetigo C0021099 L01.0 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD001480 Bullous impetigo C0021100 L01.03 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD001481 Disruptive, Impulse Control, and Conduct Disorders C0021122 F63.9 group F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 67 BXGD001482 Impulse-Ridden Personality C0021124 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD001483 Impulsive Behavior C0021125 phenotype F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 276 BXGD001484 Inadequate Personality C0021139 F60.7 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD001485 Inappropriate ADH Syndrome C0021141 E22.2 phenotype C18;C10;C19 Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD001486 Incipient Schizophrenia C0021151 F21 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 6 BXGD001487 Incontinence C0021167 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 70 BXGD001488 Bloch Sulzberger syndrome C0021171 Q82.3 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 41 BXGD001489 Increased Libido C0021177 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD001490 Indeterminate leprosy C0021192 A30.0 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 3 BXGD001491 Neonatal disorder C0021290 group C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 15 BXGD001492 Infant, Premature, Diseases C0021295 group C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 1 BXGD001493 Infant, Small for Gestational Age C0021296 phenotype Disease or Syndrome HP:0001507 Growth abnormality T047 Disease or Syndrome 4 BXGD001494 Infarction C0021308 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 15 BXGD001495 Infection of kidney C0021313 N15.9 group C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD001496 Infectious enteritis C0021342 A09 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD001497 Infectious Mononucleosis C0021345 B27.0 disease C01;C20;C15 Infections; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 58 BXGD001498 Infertility C0021359 phenotype C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T046 Pathologic Function 130 BXGD001499 Female infertility C0021361 N97 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Pathologic Function HP:0000119 Abnormality of the genitourinary system T046 Pathologic Function 37 BXGD001500 Male infertility C0021364 N46.9 phenotype C12 Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 516 BXGD001501 Mammary Ductal Carcinoma C0021367 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 16 BXGD001502 Inflammation C0021368 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 467 BXGD001503 Inflammatory Bowel Diseases C0021390 group C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1577 BXGD001504 Influenza C0021400 J11.1 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 858 BXGD001505 Infratentorial Neoplasms C0021432 group C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD001506 INJECTED EYE C0021479 phenotype C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom T184 Sign or Symptom 6 BXGD001507 Sleep Initiation and Maintenance Disorders C0021603 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 15 BXGD001508 Insulin Resistance C0021655 phenotype C18 Nutritional and Metabolic Diseases Pathologic Function HP:0001939 Abnormality of metabolism/homeostasis T046 Pathologic Function 162 BXGD001509 insulinoma C0021670 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process HP:0025031;HP:0000818;HP:0000707;HP:0002664 Abnormality of the digestive system; Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 258 BXGD001510 Intelligence C0021704 phenotype F01 Behavior and Behavior Mechanisms Mental Process T041 Mental Process 645 BXGD001511 Myoclonus, Intention C0021712 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD001512 Intermittent Claudication C0021775 I73.9 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 60 BXGD001513 Intermittent Explosive Disorder C0021776 F63.81 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 4 BXGD001514 Intervertebral Disk Displacement C0021818 disease C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 35 BXGD001515 Intestinal Atresia C0021828 Q41.1 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 20 BXGD001516 Intestinal Diseases C0021831 K63.9 group C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 209 BXGD001517 Intestinal Diseases, Parasitic C0021832 B82 group C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 19 BXGD001518 Intestinal Fistula C0021833 K63.2 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality HP:0025031 Abnormality of the digestive system T190 Anatomical Abnormality 2 BXGD001519 Intestinal Neoplasms C0021841 group C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 182 BXGD001520 Intestinal Obstruction C0021843 K56.60 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 87 BXGD001521 Intestinal Perforation C0021845 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD001522 Intestinal Polyps C0021846 phenotype C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T190 Anatomical Abnormality 48 BXGD001523 Intestinal Pseudo-Obstruction C0021847 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 32 BXGD001524 Intussusception C0021933 K56.1 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 24 BXGD001525 Iridocyclitis C0022073 H20.9 disease C11 Eye Diseases Disease or Syndrome HP:0002715;HP:0000478 Abnormality of the immune system; Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD001526 Iris Diseases C0022078 group C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD001527 Iris Neoplasms C0022079 group C04;C11 Neoplasms; Eye Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD001528 Iritis C0022081 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD001529 Irritable Bowel Syndrome C0022104 K58 disease C06 Digestive System Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 429 BXGD001530 Irritable Mood C0022107 phenotype F01 Behavior and Behavior Mechanisms Finding T033 Finding 142 BXGD001531 Ischemia C0022116 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function DOID:7 disease of anatomical entity T046 Pathologic Function 103 BXGD001532 Transient ischemia C0022118 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 25 BXGD001533 Incontinentia Pigmenti Achromians C0022283 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 67 BXGD001534 Jacksonian Seizure C0022333 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 102 BXGD001535 Creutzfeldt-Jakob disease C0022336 A81.0 disease C01;C10;F03 Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 137 BXGD001536 Late-Infantile Neuronal Ceroid Lipfuscinosis C0022340 E75.4 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 19 BXGD001537 Icterus C0022346 R17 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025031;HP:0001574 Abnormality of the digestive system; Abnormality of the integument T184 Sign or Symptom 241 BXGD001538 Jaundice, Chronic Idiopathic C0022350 E80.6 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 13 BXGD001539 Neonatal Jaundice C0022353 P59.9 phenotype C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome HP:0025031;HP:0001574 Abnormality of the digestive system; Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 33 BXGD001540 Jaundice, Obstructive C0022354 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 66 BXGD001541 Jaw Abnormalities C0022360 group C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality T019 Congenital Abnormality 9 BXGD001542 Jaw Cysts C0022361 M27.40 disease C04;C05;C07 Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Acquired Abnormality T020 Acquired Abnormality 3 BXGD001543 Jervell-Lange Nielsen Syndrome C0022387 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD001544 Arthropathy C0022408 M12.9 group C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 187 BXGD001545 Joint Instability C0022410 phenotype C05 Musculoskeletal Diseases Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD001546 Joint Tuberculosis C0022415 A18.01 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD001547 Kandinsky Syndrome C0022492 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD001548 Kaposi Varicelliform Eruption C0022504 B00.0 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 1 BXGD001549 Kartagener Syndrome C0022521 disease C16;C08;C09;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 67 BXGD001550 Kearns-Sayre syndrome C0022541 H49.81 disease C23;C18;C11;C05;C10;C14 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 29 BXGD001551 Keloid C0022548 L91.0 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality HP:0001574;HP:0003549 Abnormality of the integument; Abnormality of connective tissue T020 Acquired Abnormality 165 BXGD001552 Keratitis C0022568 H16 disease C11 Eye Diseases Disease or Syndrome HP:0002715;HP:0000478 Abnormality of the immune system; Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 156 BXGD001553 keratoacanthoma C0022572 disease C17 Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 74 BXGD001554 Keratoconjunctivitis C0022573 H16.2 disease C11 Eye Diseases Disease or Syndrome HP:0002715;HP:0000152;HP:0000478;HP:0001626 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD001555 Keratoconjunctivitis Sicca C0022575 disease C11 Eye Diseases Disease or Syndrome HP:0002715;HP:0000152;HP:0000478;HP:0001626 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 90 BXGD001556 Keratoconjunctivitis, Vernal C0022577 disease C11;C20 Eye Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 40 BXGD001557 Keratoconus C0022578 H18.60 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 269 BXGD001558 Keratoderma C0022579 disease C17 Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 24 BXGD001559 Keratoderma, Palmoplantar, Diffuse C0022584 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD001560 Keratosis C0022593 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 43 BXGD001561 Keratosis Blennorrhagica C0022594 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD001562 Keratosis Follicularis C0022595 E50.8 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 57 BXGD001563 Palmoplantar Keratosis C0022596 L85.2 disease C17;C05 Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs DOID:7 disease of anatomical entity T047 Disease or Syndrome 39 BXGD001564 Actinic keratosis C0022602 L57.0 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:14566 disease of cellular proliferation T191 Neoplastic Process 136 BXGD001565 Seborrheic keratosis C0022603 L82.1 disease C17 Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:7 disease of anatomical entity T191 Neoplastic Process 44 BXGD001566 Kernicterus C0022610 P57 disease C23;C16;C18;C20;C10;C15 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 17 BXGD001567 Ketosis C0022638 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 119 BXGD001568 Kidney Calculi C0022650 N20.0 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 190 BXGD001569 Kidney Cortex Necrosis C0022656 N17.1 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD001570 Kidney Diseases C0022658 N08 group C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1180 BXGD001571 Kidney Failure, Acute C0022660 N17 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 826 BXGD001572 Kidney Failure, Chronic C0022661 N18.9 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 827 BXGD001573 Kidney Neoplasm C0022665 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 295 BXGD001574 Acute Kidney Tubular Necrosis C0022672 N17.0 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 53 BXGD001575 Cystic kidney C0022679 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 89 BXGD001576 Polycystic Kidney Diseases C0022680 Q61.3 group C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 276 BXGD001577 Medullary sponge kidney C0022681 Q61.5 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality DOID:630 genetic disease T047;T019 Disease or Syndrome; Congenital Abnormality 9 BXGD001578 Kienbock Disease C0022682 disease C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T047 Disease or Syndrome 2 BXGD001579 Menkes Kinky Hair Syndrome C0022716 disease C16;C18;C17;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 20 BXGD001580 Klebsiella Infections C0022729 group C01 Infections Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD001581 Klinefelter Syndrome C0022735 Q98.4 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 150 BXGD001582 Klippel-Feil Syndrome C0022738 Q76.1 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7;DOID:225;DOID:0080015 disease of anatomical entity; syndrome; physical disorder T047 Disease or Syndrome 12 BXGD001583 Klippel-Trenaunay-Weber Syndrome C0022739 Q87.2 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 14 BXGD001584 Vulvar Lichen Sclerosus C0022783 N90.4 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 25 BXGD001585 Krukenberg Tumor C0022790 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 15 BXGD001586 Adult Neuronal Ceroid Lipofuscinosis C0022797 E75.4 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 16 BXGD001587 Kuru C0022802 A81.81 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD001588 Kwashiorkor C0022806 E40 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 19 BXGD001589 Kyasanur Forest Disease C0022810 A98.2 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 6 BXGD001590 Kyphosis deformity of spine C0022821 M40.20 phenotype C05 Musculoskeletal Diseases Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 305 BXGD001591 Premature Obstetric Labor C0022876 O60 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Pathologic Function T046 Pathologic Function 18 BXGD001592 Labyrinthine disorder C0022890 group C09 Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD001593 Labyrinthitis C0022893 H83.09 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD001594 Lacrimal Duct Obstruction C0022906 disease C11 Eye Diseases Anatomical Abnormality HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T190 Anatomical Abnormality 2 BXGD001595 Lactose Intolerance C0022951 E73 disease C16;C06;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 11 BXGD001596 Lambert-Eaton Myasthenic Syndrome C0022972 G70.80 disease C04;C20;C10 Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 37 BXGD001597 Langer-Giedion Syndrome C0023003 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 16 BXGD001598 Speech and language disorder C0023009 group C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 11 BXGD001599 Language Delay C0023012 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 11 BXGD001600 Language Development Disorders C0023014 group C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 18 BXGD001601 Language Disorders C0023015 F80.9 group C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 94 BXGD001602 Laryngeal Diseases C0023051 S12.8 group C08;C09 Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 159 BXGD001603 Laryngeal Edema C0023052 J38.4 phenotype C08;C09 Respiratory Tract Diseases; Otorhinolaryngologic Diseases Pathologic Function HP:0001939;HP:0002086 Abnormality of metabolism/homeostasis; Abnormality of the respiratory system T046 Pathologic Function 1 BXGD001604 Laryngeal neoplasm C0023055 disease C04;C08;C09 Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process HP:0002664;HP:0002086 Neoplasm; Abnormality of the respiratory system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 49 BXGD001605 Laryngospasm C0023066 J38.5 disease C08;C09 Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system T047 Disease or Syndrome 48 BXGD001606 Laryngitis C0023067 disease C01;C08;C09 Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 17 BXGD001607 Laryngostenosis C0023075 J38.6 disease C16;C08;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD001608 Laryngotracheitis C0023076 J04.2 disease C01;C08;C09 Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD001609 Lassa Fever C0023092 A96.2 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 22 BXGD001610 Handedness C0023114 phenotype Organism Attribute T032 Organism Attribute 9 BXGD001611 Lathyrism C0023119 disease C25 Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 1 BXGD001612 Lead Poisoning C0023176 T56.0X disease C25 Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 9 BXGD001613 Learning Disorders C0023186 F81.9 group C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 46 BXGD001614 Lecithin Acyltransferase Deficiency C0023195 E78.6 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 9 BXGD001615 Left Bundle-Branch Block C0023211 I44.7 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 25 BXGD001616 Left-Sided Heart Failure C0023212 I50.1 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 123 BXGD001617 Ventricular Outflow Obstruction, Left C0023213 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD001618 Cramps of lower extremities C0023218 phenotype C23;C05;C10;C14 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD001619 Leg Length Inequality C0023221 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding HP:0040064;HP:0001507 Abnormality of limbs; Growth abnormality T033 Finding 27 BXGD001620 Pain in lower limb C0023222 M79.669 phenotype Sign or Symptom HP:0025142;HP:0000924 Constitutional symptom; Abnormality of the skeletal system T184 Sign or Symptom 31 BXGD001621 Leg Ulcer C0023223 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 40 BXGD001622 Legg-Calve-Perthes Disease C0023234 M91.2 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 36 BXGD001623 Legionellosis C0023240 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 7 BXGD001624 Legionnaires' Disease C0023241 A48.1 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 21 BXGD001625 Leigh Disease C0023264 G31.82 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 144 BXGD001626 Fibroid Tumor C0023267 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 413 BXGD001627 leiomyosarcoma C0023269 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 213 BXGD001628 Leishmaniasis C0023281 B55.9 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 198 BXGD001629 Leishmaniasis, Cutaneous C0023283 B55.1 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 102 BXGD001630 Infection by Leishmania braziliensis C0023288 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 22 BXGD001631 Leishmaniasis, Visceral C0023290 B55.0 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 197 BXGD001632 Lens Diseases C0023308 H27.9 group C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD001633 Lens Subluxation C0023316 H27.11 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD001634 Lentigo C0023321 L81.4 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD001635 Leprosy C0023343 A30.9 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 190 BXGD001636 Leprosy, Lepromatous C0023348 A30.5 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 94 BXGD001637 Tuberculoid leprosy C0023351 A30.1 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 35 BXGD001638 Leptospirosis C0023364 A27.9 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 70 BXGD001639 Lesch-Nyhan Syndrome C0023374 E79.1 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 28 BXGD001640 Lethargy C0023380 R53.83 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 160 BXGD001641 Letterer-Siwe Disease C0023381 C96.6 disease C08;C15 Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD001642 leukemia C0023418 C95.9 disease C04 Neoplasms Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2111 BXGD001643 Chronic Lymphocytic Leukemia C0023434 C91.1 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1447 BXGD001644 Acute Basophilic Leukemia C0023437 C94.8 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD001645 Leukemia, Eosinophilic, Acute C0023439 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD001646 Acute Erythroblastic Leukemia C0023440 C94.00 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 302 BXGD001647 Leukemia, Experimental C0023441 disease C04 Neoplasms Experimental Model of Disease T050 Experimental Model of Disease 1 BXGD001648 Hairy Cell Leukemia C0023443 C91.4 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 143 BXGD001649 Lymphoid leukemia C0023448 C91 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 288 BXGD001650 Acute lymphocytic leukemia C0023449 C91.0 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1293 BXGD001651 Childhood Acute Lymphoblastic Leukemia C0023452 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1096 BXGD001652 L2 Acute Lymphoblastic Leukemia C0023453 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 53 BXGD001653 Leukemia, Mast-Cell C0023461 C94.3 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 75 BXGD001654 Acute Megakaryocytic Leukemias C0023462 C94.2 disease C04 Neoplasms Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 159 BXGD001655 Acute biphenotypic leukemia C0023464 C95.0 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 45 BXGD001656 Acute monocytic leukemia C0023465 disease C04 Neoplasms Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 633 BXGD001657 Leukemia, Monocytic, Chronic C0023466 C93.1 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 18 BXGD001658 Leukemia, Myelocytic, Acute C0023467 C92.00 disease C04 Neoplasms Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3111 BXGD001659 Myeloid Leukemia C0023470 C92.90 disease C04 Neoplasms Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 385 BXGD001660 Leukemia, Myeloid, Accelerated Phase C0023472 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 12 BXGD001661 Myeloid Leukemia, Chronic C0023473 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1172 BXGD001662 Leukemia, Myeloid, Chronic-Phase C0023474 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 72 BXGD001663 Acute myelomonocytic leukemia C0023479 C92.5 disease C04 Neoplasms Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues T191 Neoplastic Process 105 BXGD001664 Leukemia, Myelomonocytic, Chronic C0023480 C93.1 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 158 BXGD001665 Chronic Neutrophilic Leukemia C0023481 D47.1 disease C15 Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 16 BXGD001666 Leukemia, Plasma Cell C0023484 C90.1 disease C04;C20 Neoplasms; Immune System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 47 BXGD001667 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma C0023485 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 145 BXGD001668 Prolymphocytic Leukemia C0023486 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 37 BXGD001669 Acute Promyelocytic Leukemia C0023487 C92.4 disease C04 Neoplasms Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 651 BXGD001670 Leukemia, Radiation-Induced C0023488 disease C04;C26 Neoplasms; Wounds and Injuries Neoplastic Process T191 Neoplastic Process 6 BXGD001671 Leukemia, T-Cell C0023492 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 457 BXGD001672 Adult T-Cell Lymphoma/Leukemia C0023493 C91.5 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 540 BXGD001673 Leukemia, T-Cell, Chronic C0023494 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD001674 Leukemoid Reaction C0023501 D72.823 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD001675 White Blood Cell Count procedure C0023508 phenotype Laboratory Procedure T059 Laboratory Procedure 681 BXGD001676 Leukocyte Disorders C0023510 D72.9 group C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD001677 Leukocytosis C0023518 D72.829 phenotype C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 168 BXGD001678 Leukodystrophy C0023520 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 190 BXGD001679 Globoid cell leukodystrophy C0023521 E75.23 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 35 BXGD001680 Leukodystrophy, Metachromatic C0023522 E75.25 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 27 BXGD001681 Leukoencephalopathy, Progressive Multifocal C0023524 A81.2 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 240 BXGD001682 Leukomalacia, Periventricular C0023529 P91.2 disease C16;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 62 BXGD001683 Leukopenia C0023530 D72.819 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 440 BXGD001684 Leukoplakia C0023531 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 102 BXGD001685 Leukoplakia, Oral C0023532 K13.21 disease C23;C04;C07 Pathological Conditions, Signs and Symptoms; Neoplasms; Stomatognathic Diseases Neoplastic Process HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T191 Neoplastic Process 144 BXGD001686 Leydig cell hyperplasia C0023600 disease C23;C17;C12;C19 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 7 BXGD001687 Leydig Cell Tumor C0023601 disease C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 42 BXGD001688 Lichen disease C0023643 L28.0 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 33 BXGD001689 Lichen planus follicularis C0023645 L66.1 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD001690 Lichen Planus C0023646 L43.9 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 106 BXGD001691 Lichen Sclerosus et Atrophicus C0023652 L90.0 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 64 BXGD001692 Lichenification C0023653 phenotype C17 Skin and Connective Tissue Diseases Pathologic Function HP:0001574 Abnormality of the integument T046 Pathologic Function 12 BXGD001693 Lichenification and lichen simplex chronicus C0023654 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD001694 Lichenoid drug eruption C0023656 L43.2 disease C17;C20;C25 Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 4 BXGD001695 Linitis Plastica C0023743 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD001696 Lipid Metabolism, Inborn Errors C0023772 group C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 8 BXGD001697 Mucopolysaccharidosis I C0023786 E76.0 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 16 BXGD001698 Lipodystrophy C0023787 E88.1 disease C18;C17 Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome HP:0003549 Abnormality of connective tissue DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 226 BXGD001699 Whipple Disease C0023788 K90.81 disease C06;C18;C01 Digestive System Diseases; Nutritional and Metabolic Diseases; Infections Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD001700 Lipoidosis C0023794 E75.6 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 44 BXGD001701 Lipoid Proteinosis of Urbach and Wiethe C0023795 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD001702 Lipoma C0023798 D17.9 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0003549 Neoplasm; Abnormality of connective tissue DOID:14566 disease of cellular proliferation T191 Neoplastic Process 87 BXGD001703 Lipomatosis C0023801 E88.2 disease C18;C17 Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome HP:0002664;HP:0003549 Neoplasm; Abnormality of connective tissue DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD001704 Lipomatosis, Multiple Symmetrical C0023804 disease C18;C17 Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 28 BXGD001705 Lipomucopolysaccharidosis C0023806 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD001706 Hyperlipoproteinemia Type I C0023817 E78.3 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 36 BXGD001707 liposarcoma C0023827 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0003549 Neoplasm; Abnormality of connective tissue DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 200 BXGD001708 Listeriosis C0023860 A32 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 76 BXGD001709 Lithiasis C0023869 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 1 BXGD001710 Little's Disease C0023882 G80.1 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature DOID:7 disease of anatomical entity T047 Disease or Syndrome 37 BXGD001711 Liver Abscess C0023885 K75.0 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T047 Disease or Syndrome 22 BXGD001712 Liver Abscess, Amebic C0023886 A06.4 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 30 BXGD001713 Liver Cirrhosis C0023890 K74.60 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1182 BXGD001714 Liver Cirrhosis, Alcoholic C0023891 K70.3 disease C23;C06;C25 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 126 BXGD001715 Biliary cirrhosis C0023892 K74.5 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 132 BXGD001716 Liver Cirrhosis, Experimental C0023893 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease T050 Experimental Model of Disease 870 BXGD001717 Liver diseases C0023895 K70-K77 group C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1019 BXGD001718 Alcoholic Liver Diseases C0023896 K70 group C06;C25 Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 195 BXGD001719 Liver Diseases, Parasitic C0023897 group C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 9 BXGD001720 Liver neoplasms C0023903 C22.0 group C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1424 BXGD001721 Liver Neoplasms, Experimental C0023904 phenotype C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process; Experimental Model of Disease T191;T050 Neoplastic Process; Experimental Model of Disease 152 BXGD001722 Lobstein Disease C0023931 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 13 BXGD001723 Locked-In Syndrome C0023944 G83.5 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD001724 Long QT Syndrome C0023976 I45.81 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 105 BXGD001725 Longevity C0023980 phenotype Temporal Concept T079 Temporal Concept 48 BXGD001726 Lordosis C0024003 M40.5 phenotype C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 160 BXGD001727 Low Back Pain C0024031 M54.5 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025142;HP:0000924 Constitutional symptom; Abnormality of the skeletal system T184 Sign or Symptom 88 BXGD001728 Low T3 Syndrome C0024043 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD001729 Lown-Ganong-Levine Syndrome C0024054 I45.6 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7;DOID:225 disease of anatomical entity; syndrome T047 Disease or Syndrome 9 BXGD001730 Lumpy Skin Disease C0024106 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD001731 Lung Abscess C0024110 J85.2 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome HP:0002715;HP:0002086 Abnormality of the immune system; Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD001732 Lung diseases C0024115 J98.4 group C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 700 BXGD001733 Lung Diseases, Fungal C0024116 group C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD001734 Chronic Obstructive Airway Disease C0024117 J44.9 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1428 BXGD001735 Lung Neoplasms C0024121 group C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process HP:0002664;HP:0002086 Neoplasm; Abnormality of the respiratory system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1486 BXGD001736 Lupus Vulgaris C0024131 A18.4 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 526 BXGD001737 Lupus Erythematosus, Cutaneous C0024137 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 39 BXGD001738 Lupus Erythematosus, Discoid C0024138 L93.0 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 552 BXGD001739 Lupus Erythematosus, Subacute Cutaneous C0024140 L93.1 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 39 BXGD001740 Lupus Erythematosus, Systemic C0024141 M32.9 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome HP:0002715 Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1883 BXGD001741 Lupus Nephritis C0024143 disease C13;C17;C12;C20 Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 503 BXGD001742 Chilblain lupus 1 C0024145 disease C17;C26 Skin and Connective Tissue Diseases; Wounds and Injuries Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD001743 Lyme Disease C0024198 A69.2 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 178 BXGD001744 Lymphadenitis C0024205 I88.1 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 55 BXGD001745 Lymphangiectasis C0024214 I89.0 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system T047 Disease or Syndrome 11 BXGD001746 Lymphangiectasis, Intestinal C0024215 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome HP:0025031;HP:0002715;HP:0001626 Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system T047 Disease or Syndrome 6 BXGD001747 Lymphangioma C0024221 D18.1 disease C04 Neoplasms Neoplastic Process HP:0002715;HP:0002664;HP:0001626 Abnormality of the immune system; Neoplasm; Abnormality of the cardiovascular system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 22 BXGD001748 lymphangiosarcoma C0024224 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD001749 Lymphangitis C0024225 I89.1 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD001750 Lymphatic Diseases C0024228 group C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD001751 Lymphatic Metastasis C0024232 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 463 BXGD001752 Lymphedema C0024236 disease C15 Hemic and Lymphatic Diseases Pathologic Function HP:0001939 Abnormality of metabolism/homeostasis DOID:7 disease of anatomical entity T046 Pathologic Function 61 BXGD001753 Lymphocele C0024248 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD001754 Lymphocytic Choriomeningitis C0024266 A87.2 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 147 BXGD001755 Lymphocytosis C0024282 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 78 BXGD001756 Lymphogranuloma Venereum C0024286 A55 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 4 BXGD001757 Lymphohistiocytosis, Hemophagocytic C0024291 D76.1 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 117 BXGD001758 Lymphoma C0024299 C85.9 group C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process HP:0002664;HP:0001871 Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1548 BXGD001759 Lymphoma, Follicular C0024301 C82 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 477 BXGD001760 Reticulosarcoma C0024302 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 80 BXGD001761 Small Cell Lymphoma C0024303 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 8 BXGD001762 Lymphoma, Mixed-Cell C0024304 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 21 BXGD001763 Lymphoma, Non-Hodgkin C0024305 C85.9 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process HP:0002664;HP:0001871 Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 733 BXGD001764 Lymphoma, Undifferentiated C0024306 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 25 BXGD001765 Lymphomatoid Granulomatosis C0024307 C83.8 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 11 BXGD001766 Lymphopenia C0024312 D72.810 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 239 BXGD001767 Lymphoproliferative Disorders C0024314 D47.9 group C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process HP:0002664;HP:0001871 Neoplasm; Abnormality of blood and blood-forming tissues DOID:630;DOID:7;DOID:14566 genetic disease; disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 300 BXGD001768 Machado-Joseph Disease C0024408 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 135 BXGD001769 Waldenstrom Macroglobulinemia C0024419 C88.0 disease C04;C20;C15;C14 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process HP:0001939;HP:0002715;HP:0002664;HP:0025354;HP:0001871 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Neoplasm; Abnormal cellular phenotype; Abnormality of blood and blood-forming tissues DOID:0014667;DOID:630;DOID:7;DOID:14566 disease of metabolism; genetic disease; disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 162 BXGD001770 Macroglossia C0024421 K14.8 disease C07 Stomatognathic Diseases Disease or Syndrome HP:0000152;HP:0003011 Abnormality of head or neck; Abnormality of the musculature T047 Disease or Syndrome 115 BXGD001771 Macrostomia C0024433 Q18.4 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 148 BXGD001772 Macular degeneration C0024437 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 44 BXGD001773 Macular corneal dystrophy C0024439 H18.55 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD001774 Macular Edema, Cystoid C0024440 disease C11 Eye Diseases Disease or Syndrome HP:0001939;HP:0000478 Abnormality of metabolism/homeostasis; Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 49 BXGD001775 Macular Holes C0024441 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 42 BXGD001776 Mycetoma C0024449 B47 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 19 BXGD001777 Maffucci Syndrome C0024454 Q78.4 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7;DOID:225 disease of anatomical entity; syndrome T047 Disease or Syndrome 8 BXGD001778 Magnesium Deficiency C0024473 E61.2 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD001779 Majewski Syndrome C0024507 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 20 BXGD001780 Major depression, single episode C0024517 F32 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 42 BXGD001781 Malabsorption Syndrome C0024523 K90.9 group C06;C18 Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 239 BXGD001782 Malaise and fatigue C0024528 R53 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD001783 Malaria C0024530 B54 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 685 BXGD001784 Malaria, Cerebral C0024534 B50.0 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 148 BXGD001785 Malaria, Falciparum C0024535 B50.9 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 158 BXGD001786 Malaria, Vivax C0024537 B51 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 60 BXGD001787 Malignant Carcinoid Syndrome C0024586 E34.0 disease C04 Neoplasms Disease or Syndrome T047 Disease or Syndrome 25 BXGD001788 Malignant essential hypertension C0024588 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD001789 Malignant hyperpyrexia due to anesthesia C0024591 T88.3 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 60 BXGD001790 Primary Malignant Liver Neoplasm C0024620 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 60 BXGD001791 Malignant neoplasm of stomach C0024623 C16 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3806 BXGD001792 Malignant neoplasm of upper lobe, bronchus or lung C0024624 C34.1 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD001793 Malocclusion C0024636 M26.4 disease C07 Stomatognathic Diseases Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 128 BXGD001794 Animal Mammary Neoplasms C0024667 phenotype C04;C22 Neoplasms; Animal Diseases Neoplastic Process T191 Neoplastic Process 147 BXGD001795 Mammary Neoplasms, Experimental C0024668 phenotype C04 Neoplasms Neoplastic Process; Experimental Model of Disease T191;T050 Neoplastic Process; Experimental Model of Disease 218 BXGD001796 Mandibular Diseases C0024689 group C05;C07 Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD001797 Mandibular Neoplasms C0024694 group C04;C05;C07 Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD001798 Mange, Sarcoptic C0024710 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 2 BXGD001799 Manic Disorder C0024713 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 76 BXGD001800 alpha-Mannosidosis C0024748 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD001801 Mansonelliasis C0024759 B74.4 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 10 BXGD001802 Maple Syrup Urine Disease C0024776 E71.0 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 24 BXGD001803 Marburg Virus Disease C0024788 A98.3 disease C01;C22 Infections; Animal Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 4 BXGD001804 Paroxysmal nocturnal hemoglobinuria C0024790 D59.5 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 132 BXGD001805 Marek Disease C0024793 disease C01;C20;C15;C22 Infections; Immune System Diseases; Hemic and Lymphatic Diseases; Animal Diseases Neoplastic Process T191 Neoplastic Process 47 BXGD001806 Marfan Syndrome C0024796 Q87.4 disease C16;C17;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 130 BXGD001807 Marginal ulcer C0024799 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD001808 Marijuana Abuse C0024809 F12 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 156 BXGD001809 Marinesco-Sjogren syndrome C0024814 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 133 BXGD001810 Mastitis C0024894 disease C13;C17 Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 103 BXGD001811 Mastocytoma C0024897 D47.09 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 26 BXGD001812 Mastocytosis C0024899 D47.09 disease C04;C17;C20 Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 98 BXGD001813 Mastocytosis, Bullous C0024900 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD001814 Mastocytosis, Diffuse Cutaneous C0024901 D47.01 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 4 BXGD001815 Mastodynia C0024902 N64.4 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 12 BXGD001816 Mastoiditis C0024904 H70.9 disease C01;C05;C09 Infections; Musculoskeletal Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD001817 Maxillary Diseases C0024950 group C05;C07 Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD001818 Maxillary Neoplasms C0024954 group C04;C05;C07 Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD001819 Maxillary Sinusitis C0024959 J32.0 disease C01;C08;C09 Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD001820 Maximal Voluntary Ventilation C0024967 phenotype Finding T033 Finding 1 BXGD001821 Measles C0025007 B05.9 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 113 BXGD001822 Meckel Diverticulum C0025037 Q43.0 disease C23;C16;C06 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality HP:0025031 Abnormality of the digestive system DOID:0080015 physical disorder T019 Congenital Abnormality 63 BXGD001823 Meconium Aspiration Syndrome C0025048 P24.0 phenotype C16;C13;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 38 BXGD001824 Mediastinal Neoplasms C0025063 group C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD001825 Mediastinitis C0025064 J98.51 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD001826 Medulloblastoma C0025149 disease C04 Neoplasms Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 862 BXGD001827 Megacolon C0025160 K59.3 phenotype C06 Digestive System Diseases Pathologic Function HP:0025031;HP:0000707 Abnormality of the digestive system; Abnormality of the nervous system DOID:7 disease of anatomical entity T046 Pathologic Function 9 BXGD001828 Megaesophagus C0025164 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD001829 Megakaryocytic hyperplasia C0025167 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 8 BXGD001830 Meige Syndrome C0025183 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD001831 Melancholia C0025193 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 51 BXGD001832 melanoma C0025202 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:14566 disease of cellular proliferation T191 Neoplastic Process 3087 BXGD001833 Melanoma, Experimental C0025205 disease C04 Neoplasms Neoplastic Process; Experimental Model of Disease T191;T050 Neoplastic Process; Experimental Model of Disease 25 BXGD001834 Melanosis C0025209 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 26 BXGD001835 Conjunctival melanosis C0025211 disease C11;C17 Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD001836 Chloasma C0025218 L81.1 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 25 BXGD001837 Meleda Disease C0025221 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality DOID:7 disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 18 BXGD001838 Melena C0025222 K92.1 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function HP:0025031;HP:0001871;HP:0001626 Abnormality of the digestive system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T046 Pathologic Function 15 BXGD001839 Melioidosis C0025229 A24.9 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 65 BXGD001840 Melkersson-Rosenthal Syndrome C0025235 G51.2 disease C10;C07 Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD001841 Melnick-Needles Syndrome C0025237 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 23 BXGD001842 Melorheostosis C0025239 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD001843 Memory Disorders C0025261 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 62 BXGD001844 Memory, Short-Term C0025265 phenotype Mental Process T041 Mental Process 10 BXGD001845 Multiple Endocrine Neoplasia Type 1 C0025267 E31.21 disease C16;C04;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 145 BXGD001846 Multiple Endocrine Neoplasia Type 2a C0025268 E31.22 disease C16;C04;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 69 BXGD001847 Multiple Endocrine Neoplasia Type 2b C0025269 E31.23 disease C16;C04;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 13 BXGD001848 Meniere Disease C0025281 H81.0 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 69 BXGD001849 Meningeal Neoplasms C0025284 group C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD001850 Meningioma C0025286 D32.9 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 634 BXGD001851 Meningitis C0025289 G03 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707;HP:0002715 Abnormality of the nervous system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 191 BXGD001852 Aseptic Meningitis C0025290 G03.0 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 17 BXGD001853 Meningitis, Listeria C0025293 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD001854 Meningococcal meningitis C0025294 A39.0 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 17 BXGD001855 Meningitis, Pneumococcal C0025295 G00.1 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 88 BXGD001856 Viral meningitis C0025297 A87.9 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD001857 Meningocele C0025299 disease C23;C16;C05;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:0080015 physical disorder T047 Disease or Syndrome 11 BXGD001858 Meningococcal Infections C0025303 A39 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 69 BXGD001859 Meningococcemia C0025306 A39.4 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 20 BXGD001860 Meningoencephalitis C0025309 G04 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 30 BXGD001861 Meningomyelocele C0025312 Q05 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T019 Congenital Abnormality 89 BXGD001862 Menopausal syndrome C0025319 disease C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 8 BXGD001863 Premature Menopause C0025322 E28.31 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 299 BXGD001864 Menorrhagia C0025323 N92.0 phenotype C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function HP:0000119;HP:0000818;HP:0001871 Abnormality of the genitourinary system; Abnormality of the endocrine system; Abnormality of blood and blood-forming tissues T046 Pathologic Function 34 BXGD001865 Menstruation, Retrograde C0025349 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 3 BXGD001866 Mental Retardation C0025362 disease C23;C16;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 505 BXGD001867 Mental Retardation, Psychosocial C0025363 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 142 BXGD001868 Mercury Poisoning C0025427 T56.1 disease C25 Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 3 BXGD001869 Mesenchymoma C0025464 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD001870 Mesenteric Lymphadenitis C0025469 I88.0 disease C06;C15 Digestive System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD001871 Mesenteric Panniculitis C0025470 K65.4 disease C06;C17 Digestive System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD001872 Mesenteric Vascular Occlusion C0025472 disease C06;C14 Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD001873 Mesonephroma C0025490 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 2 BXGD001874 Mesothelioma C0025500 C45 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 560 BXGD001875 Metabolic Diseases C0025517 E88.9 group C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 945 BXGD001876 Inborn Errors of Metabolism C0025521 group C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality DOID:0014667;DOID:630 disease of metabolism; genetic disease T047;T019 Disease or Syndrome; Congenital Abnormality 119 BXGD001877 Metaplasia C0025568 phenotype C23 Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 52 BXGD001878 Metatarsalgia C0025587 M77.40 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom T184 Sign or Symptom 15 BXGD001879 Methemoglobinemia C0025637 D74 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD001880 Metrorrhagia C0025874 N92.1 phenotype C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function HP:0000119;HP:0000818 Abnormality of the genitourinary system; Abnormality of the endocrine system T046 Pathologic Function 17 BXGD001881 Microangiopathy, Diabetic C0025945 disease C19;C14 Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 29 BXGD001882 Microcephaly C0025958 Q02 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T019 Congenital Abnormality 1064 BXGD001883 Microglossia C0025988 Q38.3 disease C07 Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 19 BXGD001884 Micrognathism C0025990 M26.04 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 586 BXGD001885 Micromelia C0025995 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 104 BXGD001886 Microphthalmos C0026010 Q11.2 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T019 Congenital Abnormality 337 BXGD001887 Microstomia C0026034 Q18.5 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 172 BXGD001888 Middle Lobe Syndrome C0026069 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD001889 Mild Mental Retardation C0026106 F70 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 340 BXGD001890 Milk-Alkali Syndrome C0026141 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD001891 Miosis disorder C0026205 H57.03 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 20 BXGD001892 Mirror Writing C0026210 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD001893 Mitochondrial Swelling C0026244 phenotype Cell or Molecular Dysfunction HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T049 Cell or Molecular Dysfunction 1 BXGD001894 Diseases of mitral valve C0026265 group C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 21 BXGD001895 Mitral Valve Insufficiency C0026266 phenotype C14 Cardiovascular Diseases Pathologic Function HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T046 Pathologic Function 94 BXGD001896 Mitral Valve Prolapse Syndrome C0026267 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 111 BXGD001897 Mitral Valve Stenosis C0026269 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 170 BXGD001898 Mixed Connective Tissue Disease C0026272 M35.1 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 61 BXGD001899 Mixed Salivary Gland Tumor C0026277 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 185 BXGD001900 Moderate intellectual disability C0026351 F71 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 251 BXGD001901 Mohr Syndrome C0026363 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 6 BXGD001902 Molluscum Contagiosum C0026393 B08.1 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 18 BXGD001903 Monoclonal Gammopathy of Undetermined Significance C0026470 D47.2 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 227 BXGD001904 Monoclonal paraproteinemia C0026471 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:0014667;DOID:630 disease of metabolism; genetic disease T191 Neoplastic Process 1 BXGD001905 Monosomy C0026499 group C23 Pathological Conditions, Signs and Symptoms Congenital Abnormality T019 Congenital Abnormality 214 BXGD001906 Morphine Dependence C0026552 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 44 BXGD001907 Motion Sickness C0026603 T75.3 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 32 BXGD001908 Motor Skills Disorders C0026613 F82 group F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 8 BXGD001909 Dental Fluorosis, Acquired C0026618 K00.3 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 62 BXGD001910 Mouth Abnormalities C0026633 Q38.6 group C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 26 BXGD001911 Mouth Diseases C0026636 group C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 17 BXGD001912 Mouth Neoplasms C0026640 group C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process HP:0002664;HP:0000152 Neoplasm; Abnormality of head or neck T191 Neoplastic Process 140 BXGD001913 Movement Disorders C0026650 group C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 362 BXGD001914 Moyamoya Disease C0026654 I67.5 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 117 BXGD001915 Mucocele of appendix C0026684 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD001916 Mucocele of salivary gland C0026686 K11.6 disease C23;C04;C07 Pathological Conditions, Signs and Symptoms; Neoplasms; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD001917 Mucocutaneous Lymph Node Syndrome C0026691 M30.3 disease C17;C15;C14 Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 370 BXGD001918 Mucolipidoses C0026697 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 19 BXGD001919 Mucopolysaccharidoses C0026703 E76.3 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 48 BXGD001920 Mucopolysaccharidosis II C0026705 E76.1 disease C16;C18;C17;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 26 BXGD001921 Mucopolysaccharidosis III C0026706 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 17 BXGD001922 Mucopolysaccharidosis IV C0026707 E76.219 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 28 BXGD001923 Mucopolysaccharidosis V C0026708 E76.03 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD001924 Mucopolysaccharidosis VI C0026709 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 11 BXGD001925 Mucormycosis C0026718 B46.5 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 9 BXGD001926 Multiple Carboxylase Deficiency C0026755 D81.819 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD001927 Multiple Epiphyseal Dysplasia C0026760 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T019 Congenital Abnormality 40 BXGD001928 Multiple Myeloma C0026764 C90.00 disease C04;C20;C15;C14 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process HP:0002664;HP:0001871 Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1740 BXGD001929 Multiple Organ Failure C0026766 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 25 BXGD001930 Multiple Sclerosis C0026769 G35 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1800 BXGD001931 Dissociative Identity Disorder C0026773 F44.81 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 2 BXGD001932 Mumps C0026780 B26.9 disease C01;C07 Infections; Stomatognathic Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 21 BXGD001933 Muscle Cramp C0026821 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom HP:0003011 Abnormality of the musculature T184 Sign or Symptom 26 BXGD001934 Flaccid Muscle Tone C0026825 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0003011 Abnormality of the musculature T184 Sign or Symptom 16 BXGD001935 Muscle Hypertonia C0026826 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 197 BXGD001936 Muscle hypotonia C0026827 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 967 BXGD001937 Muscle Rigidity C0026837 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 320 BXGD001938 Muscle Spasticity C0026838 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T184 Sign or Symptom 580 BXGD001939 Muscular Atrophy C0026846 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function DOID:7 disease of anatomical entity T046 Pathologic Function 49 BXGD001940 Spinal Muscular Atrophy C0026847 G12.9 disease C10 Nervous System Diseases Disease or Syndrome HP:0003011 Abnormality of the musculature DOID:7 disease of anatomical entity T047 Disease or Syndrome 320 BXGD001941 Myopathy C0026848 M62.9 group C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0003011 Abnormality of the musculature DOID:7 disease of anatomical entity T047 Disease or Syndrome 634 BXGD001942 Muscular Dystrophy C0026850 G71.0 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0003011 Abnormality of the musculature DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 280 BXGD001943 Musculoskeletal Diseases C0026857 group C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 38 BXGD001944 Musculoskeletal Pain C0026858 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding T033 Finding 3 BXGD001945 Mutism C0026884 phenotype C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T047 Disease or Syndrome 47 BXGD001946 Myasthenia Gravis C0026896 G70.0 disease C04;C20;C10 Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 336 BXGD001947 Mycobacterium avium-intracellulare Infection C0026916 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 58 BXGD001948 Mycobacterium Infections C0026918 A31.9 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 183 BXGD001949 Mycobacterium Infections, Nontuberculous C0026919 A31.9 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 7 BXGD001950 Mycoplasma Infections C0026936 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 188 BXGD001951 Mycoses C0026946 B35-B49 group C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 94 BXGD001952 Mycosis Fungoides C0026948 C84.0 group C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 251 BXGD001953 Mydriasis C0026961 H57.04 phenotype C11 Eye Diseases Sign or Symptom HP:0000478 Abnormality of the eye T184 Sign or Symptom 25 BXGD001954 Myelitis C0026975 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome HP:0000707;HP:0002715 Abnormality of the nervous system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 22 BXGD001955 Myelitis, Transverse C0026976 disease C04;C01;C20;C10 Neoplasms; Infections; Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD001956 Myelodysplasia C0026985 D46.9 disease Congenital Abnormality T019 Congenital Abnormality 181 BXGD001957 Myelofibrosis C0026987 D75.81 disease C23;C04;C15 Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process HP:0001871 Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 163 BXGD001958 Myeloid hyperplasia C0026996 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 5 BXGD001959 Acute Myeloid Leukemia, M1 C0026998 C92.0 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 138 BXGD001960 Myeloid Metaplasia C0027013 disease C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD001961 Myelomonocytic leukemia C0027019 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 36 BXGD001962 Myeloproliferative disease C0027022 D47.1 group C15 Hemic and Lymphatic Diseases Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 365 BXGD001963 Myocardial Infarction C0027051 I22 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1800 BXGD001964 Myocardial Reperfusion Injury C0027055 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function T046 Pathologic Function 226 BXGD001965 Myocarditis C0027059 I51.4 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 285 BXGD001966 Myoclonus C0027066 G25.3 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 265 BXGD001967 Myoepithelioma C0027070 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 36 BXGD001968 Myofascial Pain Syndromes C0027073 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD001969 Myoglobinuria C0027080 R82.1 phenotype C05 Musculoskeletal Diseases Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system DOID:7 disease of anatomical entity T033 Finding 17 BXGD001970 Myoma C0027086 D21 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 28 BXGD001971 Myopia C0027092 H52.1 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 490 BXGD001972 Myosarcoma C0027095 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD001973 Myositis C0027121 G72.49 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0002715;HP:0003011 Abnormality of the immune system; Abnormality of the musculature DOID:7 disease of anatomical entity T047 Disease or Syndrome 254 BXGD001974 Myositis Ossificans C0027122 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 12 BXGD001975 Myotonia C0027125 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 19 BXGD001976 Myotonic Dystrophy C0027126 G71.11 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 155 BXGD001977 Myotonia Congenita C0027127 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD001978 Myxedema C0027145 E03.9 disease C17;C19 Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD001979 Myxoma C0027149 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 51 BXGD001980 Nagana C0027333 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 10 BXGD001981 Nail Diseases C0027339 L60.9 group C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD001982 Nail-Patella Syndrome C0027341 Q87.2 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 38 BXGD001983 Narcissism C0027401 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 10 BXGD001984 Narcolepsy C0027404 G47.41 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T047 Disease or Syndrome 308 BXGD001985 Opioid-Related Disorders C0027412 F11 group C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 12 BXGD001986 Nasal congestion (finding) C0027424 R09.81 phenotype C08;C09 Respiratory Tract Diseases; Otorhinolaryngologic Diseases Sign or Symptom HP:0000152 Abnormality of head or neck T184 Sign or Symptom 2 BXGD001987 Nasal obstruction present finding C0027429 phenotype C08;C09 Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 7 BXGD001988 Nasal Polyps C0027430 J33.9 disease C23;C08;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 484 BXGD001989 Nasopharyngeal Diseases C0027438 group C07;C09 Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD001990 Nasopharyngeal Neoplasms C0027439 group C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process HP:0002664;HP:0000152;HP:0002086 Neoplasm; Abnormality of head or neck; Abnormality of the respiratory system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 40 BXGD001991 Nasopharyngitis C0027441 J00 disease C01;C08;C07;C09 Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 19 BXGD001992 Natal Teeth C0027443 K00.6 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 22 BXGD001993 Nausea C0027497 R11.0 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025031 Abnormality of the digestive system T184 Sign or Symptom 161 BXGD001994 Nausea and vomiting C0027498 R11.2 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025031 Abnormality of the digestive system T184 Sign or Symptom 257 BXGD001995 Neck Neoplasms C0027533 group C04 Neoplasms Neoplastic Process T191 Neoplastic Process 132 BXGD001996 Necrosis C0027540 phenotype C23 Pathological Conditions, Signs and Symptoms Organ or Tissue Function T042 Organ or Tissue Function 60 BXGD001997 Avascular necrosis of bone C0027543 M87 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 73 BXGD001998 Necrotizing Scleritis C0027547 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD001999 Negativism C0027562 phenotype F01 Behavior and Behavior Mechanisms Individual Behavior T055 Individual Behavior 12 BXGD002000 Nelson Syndrome C0027577 E24.1 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 4 BXGD002001 Nematode infections C0027583 B77 group C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 33 BXGD002002 Neonatal Abstinence Syndrome C0027609 P96.1 disease C16;C25;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 9 BXGD002003 Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612 group C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 12 BXGD002004 Neonatal hepatitis C0027613 P59.29 disease C16;C06;C01 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Infections Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T047 Disease or Syndrome 21 BXGD002005 Neoplasm Invasiveness C0027626 phenotype C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Pathologic Function T046 Pathologic Function 193 BXGD002006 Neoplasm Metastasis C0027627 phenotype C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 6385 BXGD002007 Neoplasm Recurrence, Local C0027643 phenotype C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 39 BXGD002008 Neoplasm Seeding C0027645 phenotype C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Pathologic Function T046 Pathologic Function 1 BXGD002009 Neoplasms C0027651 D49 group C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:14566 disease of cellular proliferation T191 Neoplastic Process 10161 BXGD002010 Embryonal Neoplasm C0027654 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:14566 disease of cellular proliferation T191 Neoplastic Process 57 BXGD002011 Neoplasms, Germ Cell and Embryonal C0027658 group C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 34 BXGD002012 Neoplasms, Experimental C0027659 phenotype C04 Neoplasms Neoplastic Process; Experimental Model of Disease T191;T050 Neoplastic Process; Experimental Model of Disease 95 BXGD002013 Neoplasms, Glandular and Epithelial C0027660 group C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 7 BXGD002014 Neoplasms, Hormone-Dependent C0027661 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD002015 Multiple Endocrine Neoplasia C0027662 E31.20 disease C16;C04;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 65 BXGD002016 Neoplasms, Multiple Primary C0027663 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD002017 Neoplasms, Nerve Tissue C0027665 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD002018 Neoplasms, Radiation-Induced C0027666 phenotype C04;C26 Neoplasms; Wounds and Injuries Neoplastic Process T191 Neoplastic Process 11 BXGD002019 Neoplasms, Vascular Tissue C0027668 group C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 67 BXGD002020 Neoplastic Syndromes, Hereditary C0027672 group C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process T191 Neoplastic Process 88 BXGD002021 Pathologic Neovascularization C0027686 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 16 BXGD002022 Nephritis C0027697 N05 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119;HP:0002715 Abnormality of the genitourinary system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 296 BXGD002023 Hereditary nephritis C0027706 disease C16;C13;C17;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 9 BXGD002024 Nephritis, Interstitial C0027707 N12 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 79 BXGD002025 Nephroblastoma C0027708 disease C16;C04;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 586 BXGD002026 Nephrocalcinosis C0027709 disease C18;C13;C12 Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 118 BXGD002027 Nephrosclerosis C0027719 I12 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 41 BXGD002028 Nephrosis C0027720 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 68 BXGD002029 Lipoid nephrosis C0027721 N04 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119;HP:0002715 Abnormality of the genitourinary system; Abnormality of the immune system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 50 BXGD002030 Nephrotic Syndrome C0027726 N04 group C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 384 BXGD002031 Nerve compression syndrome C0027743 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD002032 Nerve Degeneration C0027746 phenotype C23 Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction HP:0000707 Abnormality of the nervous system T049 Cell or Molecular Dysfunction 165 BXGD002033 nervous system disorder C0027765 G98 group C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 977 BXGD002034 Nervous System Neoplasms C0027766 group C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 68 BXGD002035 Nesidioblastosis C0027773 E16.9 disease C16;C06;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 12 BXGD002036 Neural Tube Defects C0027794 group C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 304 BXGD002037 Neuralgia C0027796 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 767 BXGD002038 Neurasthenia C0027804 R53.81 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 3 BXGD002039 Neurenteric Cyst C0027806 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 29 BXGD002040 Neurilemmoma C0027809 disease C04 Neoplasms Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 193 BXGD002041 Neuritis C0027813 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 32 BXGD002042 Neuritis, Autoimmune, Experimental C0027814 disease C20;C10 Immune System Diseases; Nervous System Diseases Experimental Model of Disease T050 Experimental Model of Disease 32 BXGD002043 Neuroblastoma C0027819 disease C04 Neoplasms Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2509 BXGD002044 Neurocirculatory Asthenia C0027821 disease F03 Mental Disorders Disease or Syndrome DOID:630;DOID:7;DOID:150 genetic disease; disease of anatomical entity; disease of mental health T047 Disease or Syndrome 1 BXGD002045 Neurodermatitis C0027822 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD002046 neurofibroma C0027830 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 125 BXGD002047 Neurofibromatosis 1 C0027831 Q85.01 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 311 BXGD002048 Neurofibromatosis 2 C0027832 Q85.02 disease C16;C04;C10;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 127 BXGD002049 Neuroleptic Malignant Syndrome C0027849 G21.0 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD002050 Neurologic Manifestations C0027854 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 12 BXGD002051 Neuroma C0027858 disease C04 Neoplasms Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 15 BXGD002052 Acoustic Neuroma C0027859 disease C04;C10;C09 Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process HP:0000707;HP:0002664;HP:0000598 Abnormality of the nervous system; Neoplasm; Abnormality of the ear DOID:630;DOID:7;DOID:14566 genetic disease; disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 131 BXGD002053 Neuromuscular Diseases C0027868 G70.9 group C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 171 BXGD002054 Neuromyelitis Optica C0027873 G36.0 disease C11;C20;C10 Eye Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 171 BXGD002055 Neuronal Ceroid-Lipofuscinoses C0027877 E75.4 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 51 BXGD002056 Hereditary Motor and Sensory Neuropathies C0027888 G60.0 group C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 53 BXGD002057 Hereditary Sensory and Autonomic Neuropathies C0027889 group C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 25 BXGD002058 Neuropsychological Tests C0027902 phenotype Diagnostic Procedure T060 Diagnostic Procedure 12 BXGD002059 Neurosyphilis C0027927 A52.3 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 19 BXGD002060 Neurotic Disorders C0027932 F48.9 group F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 7 BXGD002061 Neutropenia C0027947 D70 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 389 BXGD002062 Nevus C0027960 disease C04 Neoplasms Neoplastic Process HP:0001574 Abnormality of the integument T191 Neoplastic Process 125 BXGD002063 Nevus of Ota C0027961 disease C04 Neoplasms Neoplastic Process HP:0001574 Abnormality of the integument T191 Neoplastic Process 3 BXGD002064 Melanocytic nevus C0027962 D22 disease C04 Neoplasms Neoplastic Process HP:0001574 Abnormality of the integument T191 Neoplastic Process 297 BXGD002065 Newcastle Disease C0027983 disease C01;C22 Infections; Animal Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 2 BXGD002066 Nicotine Dependence C0028043 F17.2 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 170 BXGD002067 Nicotine withdrawal C0028047 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 27 BXGD002068 Niemann-Pick Diseases C0028064 E75.249 group C16;C18;C10;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 25 BXGD002069 Nyctalopia C0028077 H53.6 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 168 BXGD002070 Night sweats C0028081 R61 phenotype Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 17 BXGD002071 Nightmares C0028084 phenotype Sign or Symptom T184 Sign or Symptom 6 BXGD002072 Nocardia Infections C0028242 A43 group C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 4 BXGD002073 Nodule C0028259 phenotype Acquired Abnormality T020 Acquired Abnormality 278 BXGD002074 Organic Brain Syndrome, Nonpsychotic C0028313 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD002075 Noonan Syndrome C0028326 Q87.19 disease C16;C17;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225;DOID:150 genetic disease; disease of anatomical entity; syndrome; disease of mental health T047 Disease or Syndrome 85 BXGD002076 Crusted scabies C0028425 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 1 BXGD002077 Nose Diseases C0028432 group C08;C09 Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD002078 Nose Neoplasms C0028433 group C04;C05;C08;C09 Neoplasms; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process HP:0002664;HP:0000152;HP:0002086 Neoplasm; Abnormality of head or neck; Abnormality of the respiratory system T191 Neoplastic Process 3 BXGD002079 Numbness C0028643 phenotype C10;F03 Nervous System Diseases; Mental Disorders Sign or Symptom T184 Sign or Symptom 12 BXGD002080 Nocturia C0028734 R35.1 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 28 BXGD002081 Nystagmus C0028738 H55.0 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 833 BXGD002082 Obesity C0028754 E66.9 disease C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001507 Growth abnormality DOID:0014667 disease of metabolism T047 Disease or Syndrome 2821 BXGD002083 Obesity, Morbid C0028756 disease C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 203 BXGD002084 Obsessive-Compulsive Disorder C0028768 F42 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 175 BXGD002085 Cerebral artery occlusion C0028790 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality DOID:7 disease of anatomical entity T020 Acquired Abnormality 9 BXGD002086 Dermatitis, Occupational C0028796 disease C17;C24 Skin and Connective Tissue Diseases; Occupational Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD002087 Occupational Diseases C0028797 group C24 Occupational Diseases Disease or Syndrome T047 Disease or Syndrome 22 BXGD002088 Ocular Headache C0028838 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 5 BXGD002089 Ocular Hypertension C0028840 H40.05 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 103 BXGD002090 Ocular Hypotension C0028841 H44.40 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 22 BXGD002091 Ocular Larva Migrans C0028848 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD002092 Ocular Motility Disorders C0028850 group C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD002093 Oculocerebrorenal Syndrome C0028860 E72.03 disease C16;C18;C13;C12;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 54 BXGD002094 Oculomotor Nerve Paralysis C0028866 H49.0 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000707;HP:0000478 Abnormality of the nervous system; Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 22 BXGD002095 Odontogenesis Imperfecta C0028878 K00.5 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 4 BXGD002096 Odontogenic Cysts C0028879 disease C04;C05;C07 Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 29 BXGD002097 Odontogenic Tumors C0028880 group C04 Neoplasms Neoplastic Process HP:0002664;HP:0000152 Neoplasm; Abnormality of head or neck T191 Neoplastic Process 62 BXGD002098 Odontoma C0028882 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0000152 Neoplasm; Abnormality of head or neck T191 Neoplastic Process 3 BXGD002099 oligodendroglioma C0028945 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 282 BXGD002100 Oligomenorrhea C0028949 N91.5 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0000119;HP:0000818 Abnormality of the genitourinary system; Abnormality of the endocrine system T046 Pathologic Function 37 BXGD002101 Oligospermia C0028960 N46.11 disease C12 Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 217 BXGD002102 Oliguria C0028961 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 24 BXGD002103 Olivopontocerebellar Atrophies C0028968 group C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 28 BXGD002104 Onchocerciasis C0029001 B73 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 19 BXGD002105 Onchocerciasis, Ocular C0029002 B73 disease C01;C11 Infections; Eye Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 4 BXGD002106 Ophthalmia, Sympathetic C0029077 H44.13 disease C11;C20 Eye Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD002107 Ophthalmoplegia C0029089 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T184 Sign or Symptom 216 BXGD002108 Opioid abuse C0029095 F11.1 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 16 BXGD002109 Opioid withdrawal C0029104 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 16 BXGD002110 Opisthorchiasis C0029106 B66.0 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 1 BXGD002111 Opportunistic Infections C0029118 group C01 Infections Disease or Syndrome HP:0002715 Abnormality of the immune system T047 Disease or Syndrome 90 BXGD002112 Oppositional Defiant Disorder C0029121 F91.3 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 27 BXGD002113 Optic Atrophy C0029124 H47.2 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 568 BXGD002114 Optic Atrophies, Hereditary C0029125 H47.22 group C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD002115 Optic Disk Drusen C0029128 H47.32 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD002116 Abnormality of the optic nerve C0029131 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 18 BXGD002117 Disorder of the optic nerve C0029132 group C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 112 BXGD002118 Optic Neuritis C0029134 H46 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0002715;HP:0000478 Abnormality of the immune system; Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 79 BXGD002119 Oral Manifestations C0029166 phenotype C23;C07 Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Sign or Symptom T184 Sign or Symptom 7 BXGD002120 Oral Submucous Fibrosis C0029172 K13.5 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 106 BXGD002121 orbit (eye disorders) C0029182 H05.9 group C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 64 BXGD002122 Orchitis C0029191 N45.2 phenotype C12;C19 Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 30 BXGD002123 Delirium, Dementia, Amnestic, Cognitive Disorders C0029227 F09 group F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 83 BXGD002124 Organic Mental Disorders, Psychotic C0029230 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD002125 Organic Mental Disorders, Substance-Induced C0029231 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 115 BXGD002126 Orgasmic Disorder C0029261 F52.3 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD002127 Psittacosis C0029291 A70 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 1 BXGD002128 Orofaciodigital Syndromes C0029294 Q87.0 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 19 BXGD002129 Oropharyngeal Neoplasms C0029295 group C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process T191 Neoplastic Process 8 BXGD002130 Oroya Fever C0029307 A44.0 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 1 BXGD002131 Orthomyxoviridae Infections C0029342 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD002132 Juvenile osteochondrosis of tibial tubercle C0029376 M92.52 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD002133 Heterotopic Ossification C0029396 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0000924 Abnormality of the skeletal system T046 Pathologic Function 8 BXGD002134 Osteitis C0029400 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 47 BXGD002135 Osteitis Deformans C0029401 M88 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 134 BXGD002136 Osteitis Fibrosa Cystica C0029405 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD002137 Degenerative polyarthritis C0029408 M15-M19 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1827 BXGD002138 Osteoarthritis of hip C0029410 M16.9 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 164 BXGD002139 Osteoarthropathy, Primary Hypertrophic C0029411 M89.4 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7;DOID:225 disease of anatomical entity; syndrome T047 Disease or Syndrome 14 BXGD002140 Osteoblastoma C0029417 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0000924 Neoplasm; Abnormality of the skeletal system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 22 BXGD002141 Osteochondritis Dissecans C0029421 M93.2 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 22 BXGD002142 Osteochondrodysplasias C0029422 Q78.9 group C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 207 BXGD002143 Cartilaginous exostosis C0029423 disease C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process HP:0002664;HP:0000924 Neoplasm; Abnormality of the skeletal system T191 Neoplastic Process 47 BXGD002144 Synovial osteochondromatosis C0029427 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD002145 Osteochondrosis C0029429 M93.9 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD002146 Osteogenesis Imperfecta C0029434 Q78.0 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 90 BXGD002147 Idiopathic Multicentric Osteolyses C0029437 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD002148 Massive Osteolyses C0029438 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 44 BXGD002149 Osteoma C0029440 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0000924 Neoplasm; Abnormality of the skeletal system T191 Neoplastic Process 6 BXGD002150 Osteoid osteoma C0029441 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0000924 Neoplasm; Abnormality of the skeletal system T191 Neoplastic Process 10 BXGD002151 Osteomalacia C0029442 disease C16;C18;C13;C05;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 31 BXGD002152 Osteomyelitis C0029443 M86 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome HP:0002715;HP:0000924 Abnormality of the immune system; Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 121 BXGD002153 Bone necrosis C0029445 M87 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T046 Pathologic Function 23 BXGD002154 Osteopenia C0029453 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 845 BXGD002155 Osteopetrosis C0029454 Q78.2 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 74 BXGD002156 Osteopoikilosis (disorder) C0029455 Q78.8 disease C17;C05 Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD002157 Osteoporosis C0029456 M81.0 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1098 BXGD002158 Osteoporosis, Postmenopausal C0029458 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 171 BXGD002159 Osteoporosis, Senile C0029459 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 73 BXGD002160 Osteosarcoma C0029463 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0000924 Neoplasm; Abnormality of the skeletal system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2283 BXGD002161 Osteosclerosis C0029464 Q78.2 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 82 BXGD002162 Other acute reactions to stress C0029488 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD002163 Other alopecia C0029489 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 39 BXGD002164 Other cataract C0029531 H26 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 32 BXGD002165 Other dermatoses C0029574 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD002166 Other eating disorders C0029587 F50.8 group F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD002167 Other disorders of lipoid metabolism C0029591 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD002168 Other emphysema C0029607 J43.8 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 20 BXGD002169 Other heart block C0029630 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function DOID:7 disease of anatomical entity T046 Pathologic Function 1 BXGD002170 Other specified forms of pleural effusion, except tuberculous C0029799 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD002171 Other specified hemorrhagic conditions C0029804 D69.8 phenotype C15 Hemic and Lymphatic Diseases Pathologic Function DOID:630;DOID:7 genetic disease; disease of anatomical entity T046 Pathologic Function 1 BXGD002172 Other specified iron deficiency anemias C0029810 disease C18;C15 Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 13 BXGD002173 Other specified peritonitis C0029823 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD002174 Other ureteric obstruction C0029866 phenotype C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality DOID:7 disease of anatomical entity T190 Anatomical Abnormality 52 BXGD002175 Ear Inflammation C0029877 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD002176 Otitis Externa C0029878 H60.90 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome HP:0000598 Abnormality of the ear DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD002177 Otitis Media C0029882 H66.90 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome HP:0002715;HP:0000598 Abnormality of the immune system; Abnormality of the ear DOID:7 disease of anatomical entity T047 Disease or Syndrome 175 BXGD002178 Otitis Media with Effusion C0029883 H65.9 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome HP:0002715;HP:0000598 Abnormality of the immune system; Abnormality of the ear DOID:7 disease of anatomical entity T047 Disease or Syndrome 110 BXGD002179 Otorhinolaryngologic Diseases C0029896 group C09 Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD002180 Otosclerosis C0029899 H80.9 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome HP:0000598 Abnormality of the ear DOID:7 disease of anatomical entity T047 Disease or Syndrome 49 BXGD002181 Ovarian Carcinoma C0029925 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 539 BXGD002182 Ovarian Cysts C0029927 N83.209 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 74 BXGD002183 Ovarian Diseases C0029928 group C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 17 BXGD002184 Overanxious disorder C0029942 F41.1 disease Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD002185 Drug Overdose C0029944 disease C25 Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 2 BXGD002186 Acrocephaly C0030044 Q75.0 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system DOID:7 disease of anatomical entity T019 Congenital Abnormality 35 BXGD002187 Ozena (disorder) C0030105 J31.0 disease C08;C09 Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD002188 Pachymeningitis C0030167 G03 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD002189 Paget's Disease, Mammary C0030185 C50 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD002190 Paget Disease Extramammary C0030186 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 79 BXGD002191 Pain C0030193 R52 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 1554 BXGD002192 Pain in limb C0030196 M79.609 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025142;HP:0000924 Constitutional symptom; Abnormality of the skeletal system T184 Sign or Symptom 16 BXGD002193 Pain, Intractable C0030200 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 6 BXGD002194 Pain, Postoperative C0030201 G89.18 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 102 BXGD002195 Myoclonus, Palatal C0030214 G25.3 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 1 BXGD002196 Palatal Neoplasms C0030215 disease C04;C05;C07 Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Neoplastic Process HP:0002664;HP:0000152 Neoplasm; Abnormality of head or neck T191 Neoplastic Process 1 BXGD002197 Pallor C0030232 R23.1 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001574 Abnormality of the integument T033 Finding 124 BXGD002198 Pustulosis of Palms and Soles C0030246 L40.3 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 74 BXGD002199 Palpitations C0030252 R00.2 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 70 BXGD002200 Pancreatic Cyst C0030283 K86.2 disease C06;C04 Digestive System Diseases; Neoplasms Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 60 BXGD002201 Pancreatic Diseases C0030286 K86.9 group C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 100 BXGD002202 Pancreatic Fistula C0030290 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 9 BXGD002203 Pancreatic Insufficiency C0030293 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 21 BXGD002204 Pancreatic Neoplasm C0030297 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 764 BXGD002205 Pancreatic Pseudocyst C0030299 K86.3 disease C06;C04 Digestive System Diseases; Neoplasms Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 11 BXGD002206 Pancreatitis C0030305 K85.9 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 502 BXGD002207 Pancytopenia C0030312 D61.81 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 253 BXGD002208 Panic Disorder C0030319 F41.0 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 175 BXGD002209 Panniculitis C0030326 M79.3 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0002715;HP:0003549 Abnormality of the immune system; Abnormality of connective tissue DOID:7 disease of anatomical entity T047 Disease or Syndrome 37 BXGD002210 Panniculitis, Lupus Erythematosus C0030327 L93.2 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD002211 Panniculitis, Nodular Nonsuppurative C0030328 M35.6 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD002212 Panuveitis C0030343 H44.11 disease C11 Eye Diseases Disease or Syndrome HP:0002715;HP:0000478 Abnormality of the immune system; Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD002213 Papilledema C0030353 H46.0 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 35 BXGD002214 Papilloma C0030354 disease C04 Neoplasms Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:14566 disease of cellular proliferation T191 Neoplastic Process 273 BXGD002215 Papillon-Lefevre Disease C0030360 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 29 BXGD002216 Parainfluenza C0030389 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 36 BXGD002217 Paracoccidioidomycosis C0030409 B41 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 50 BXGD002218 Paraganglioma C0030421 disease C04 Neoplasms Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm DOID:630;DOID:7;DOID:14566 genetic disease; disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 165 BXGD002219 Extra-Adrenal Paraganglioma C0030422 disease C04 Neoplasms Neoplastic Process DOID:630;DOID:7;DOID:14566 genetic disease; disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD002220 Paragonimiasis C0030424 B66.4 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 3 BXGD002221 Parakeratosis C0030436 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 31 BXGD002222 Parakeratosis Variegata C0030437 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD002223 Progressive bulbar palsy C0030442 G12.22 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD002224 Familial Periodic Paralysis C0030443 G72.3 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 18 BXGD002225 Paralytic Ileus C0030446 K56.0 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD002226 Paranasal Sinus Disorder C0030469 group C08;C09 Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0002715;HP:0000152;HP:0000924 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD002227 Paraneoplastic Syndromes C0030472 group C04 Neoplasms Neoplastic Process T191 Neoplastic Process 28 BXGD002228 Tropical Spastic Paraparesis C0030481 G04.1 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 88 BXGD002229 Paraplegia C0030486 G82.20 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 59 BXGD002230 Paraproteinemias C0030489 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 14 BXGD002231 Parapsoriasis C0030491 L41 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD002232 Parasitic Diseases C0030499 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 164 BXGD002233 Parasomnia C0030508 G47.5 group C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 7 BXGD002234 Parathyroid Diseases C0030517 E21.5 group C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 26 BXGD002235 Parathyroid Neoplasms C0030521 group C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0002664 Abnormality of the endocrine system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 104 BXGD002236 Paratuberculosis C0030524 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 61 BXGD002237 Paratyphoid Fever C0030528 A01.4 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 4 BXGD002238 Paresis C0030552 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 216 BXGD002239 Paresthesia C0030554 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 121 BXGD002240 Parkinson Disease C0030567 G20 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2078 BXGD002241 Parkinson Disease, Postencephalitic C0030568 G21.3 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD002242 Secondary Parkinson Disease C0030569 G21.9 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD002243 Paronychia Inflammation C0030578 L03.0 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD002244 Parotid Neoplasms C0030581 group C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD002245 Parotitis C0030583 K11.2 disease C07 Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD002246 Paroxysmal supraventricular tachycardia C0030590 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 5 BXGD002247 Paroxysmal ventricular tachycardia C0030591 disease C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 24 BXGD002248 Activated Partial Thromboplastin Time measurement C0030605 phenotype Laboratory Procedure T059 Laboratory Procedure 17 BXGD002249 Passive Cutaneous Anaphylaxis C0030625 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD002250 Gambling, Pathological C0030662 F63.0 disease F03;F01 Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 26 BXGD002251 Pediculus capitis infestation C0030757 B85.0 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 6 BXGD002252 Pelger-Huet Anomaly C0030779 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues DOID:630 genetic disease T047 Disease or Syndrome 25 BXGD002253 Pelvic Neoplasms C0030793 group C04 Neoplasms Neoplastic Process T191 Neoplastic Process 12 BXGD002254 Pelvic Pain C0030794 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 23 BXGD002255 Pemphigoid, Benign Mucous Membrane C0030804 L12.1 disease C11;C17 Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 19 BXGD002256 Bullous pemphigoid C0030805 L12.0 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 127 BXGD002257 Pemphigus C0030807 L10.9 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 67 BXGD002258 Pemphigus Vulgaris C0030809 L10.0 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 115 BXGD002259 Allergy to penicillin C0030824 phenotype C17;C20;C25 Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 6 BXGD002260 Penile Diseases C0030846 N48.9 group C12 Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD002261 Peyronie Disease C0030848 N48.6 disease C17;C12 Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 41 BXGD002262 Penile Neoplasms C0030849 group C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD002263 Peptic Ulcer C0030920 K27 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 150 BXGD002264 Peptic Ulcer Hemorrhage C0030922 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function T046 Pathologic Function 2 BXGD002265 Peptic Ulcer Perforation C0030925 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD002266 Perceptual Disorders C0030975 group C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD002267 Perianal abscess C0031019 K61.0 disease C23;C06;C01;C17 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections; Skin and Connective Tissue Diseases Disease or Syndrome HP:0025031;HP:0001574;HP:0002715 Abnormality of the digestive system; Abnormality of the integument; Abnormality of the immune system T047 Disease or Syndrome 5 BXGD002268 Chronic periaortitis C0031022 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 9 BXGD002269 Suppurative Periapical Periodontitis C0031024 disease C01;C07 Infections; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD002270 Periapical Diseases C0031028 group C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD002271 Periapical Granuloma C0031029 disease C07 Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 41 BXGD002272 Periapical Periodontitis C0031030 K04.5 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 90 BXGD002273 Polyarteritis Nodosa C0031036 M30.0 disease C17;C14 Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 70 BXGD002274 Pericardial effusion C0031039 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 98 BXGD002275 Pericarditis C0031046 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 51 BXGD002276 Pericarditis, Constrictive C0031048 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD002277 Pericarditis, Tuberculous C0031049 A18.84 disease C01;C14 Infections; Cardiovascular Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 2 BXGD002278 Pericementitis C0031051 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD002279 Familial Mediterranean Fever C0031069 M04.1 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 133 BXGD002280 Periodontal Diseases C0031090 K05.6 group C07 Stomatognathic Diseases Disease or Syndrome HP:0002715;HP:0000152 Abnormality of the immune system; Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 326 BXGD002281 Periodontal Pocket C0031094 disease C07 Stomatognathic Diseases Anatomical Abnormality T190 Anatomical Abnormality 28 BXGD002282 Periodontitis C0031099 K05.3 disease C07 Stomatognathic Diseases Disease or Syndrome HP:0002715;HP:0000152 Abnormality of the immune system; Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 682 BXGD002283 Aggressive Periodontitis C0031106 K05.2 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 184 BXGD002284 Peripheral angiopathy in diseases classified elsewhere C0031115 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD002285 Peripheral Neuropathy C0031117 group C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 351 BXGD002286 Peripheral Nervous System Neoplasms C0031118 group C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD002287 Peripheral neuralgia C0031121 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD002288 Peritoneal Diseases C0031142 K66.9 group C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD002289 Chronic peritoneal effusion (disorder) C0031144 R18.8 disease C23;C06;C17 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD002290 Peritoneal Neoplasms C0031149 group C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 10 BXGD002291 Peritonitis C0031154 K65.9 disease C06;C01 Digestive System Diseases; Infections Pathologic Function HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system DOID:7 disease of anatomical entity T046 Pathologic Function 15 BXGD002292 Peritonsillar Abscess C0031157 J36 disease C01;C08;C07;C09 Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD002293 Persistent Fetal Circulation Syndrome C0031190 P29.30 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD002294 Persistent Ostium Primum C0031192 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 3 BXGD002295 Personality Disorders C0031212 F60.9 group F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 49 BXGD002296 Petechiae C0031256 R23.3 disease C23;C17;C14 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome HP:0001574;HP:0001871;HP:0001626 Abnormality of the integument; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T047 Disease or Syndrome 11 BXGD002297 Peutz-Jeghers Syndrome C0031269 Q85.8 disease C16;C06;C04;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 71 BXGD002298 Phagocyte Bactericidal Dysfunction C0031306 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD002299 Pharyngeal Neoplasms C0031347 group C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process HP:0002664;HP:0000152;HP:0002086 Neoplasm; Abnormality of head or neck; Abnormality of the respiratory system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD002300 Pharyngitis C0031350 disease C01;C08;C07;C09 Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 30 BXGD002301 PHENCYCLIDINE/ARYLCYCLOHEXYLAMINE ABUSE C0031382 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD002302 Phencyclidine Abuse C0031391 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 7 BXGD002303 Phenylketonurias C0031485 group C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 83 BXGD002304 Pheochromocytoma C0031511 disease C04 Neoplasms Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 344 BXGD002305 Phimosis C0031538 N47.1 phenotype C12 Male Urogenital Diseases Finding DOID:7 disease of anatomical entity T033 Finding 6 BXGD002306 Phlegmon C0031557 phenotype C23;C01;C17 Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases Pathologic Function DOID:7 disease of anatomical entity T046 Pathologic Function 1 BXGD002307 Phobia, Social C0031572 F40.1 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 33 BXGD002308 Phocomelia C0031575 Q73.1 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 9 BXGD002309 Polymorphous light eruption C0031736 L56.4 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD002310 Photosensitivity Disorders C0031762 group C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD002311 Pica Disease C0031873 disease C23;F03 Pathological Conditions, Signs and Symptoms; Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 5 BXGD002312 Picornaviridae Infections C0031887 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD002313 Pierre Robin Syndrome C0031900 Q87.0 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T019 Congenital Abnormality 39 BXGD002314 Pigeon Breeder's Lung C0031903 J67.2 disease C08;C20;C24 Respiratory Tract Diseases; Immune System Diseases; Occupational Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD002315 Pigmentation C0031911 phenotype Organism Attribute T032 Organism Attribute 1 BXGD002316 Pilonidal Cyst C0031925 L05.91 phenotype C04 Neoplasms Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 1 BXGD002317 Pineal Gland Neoplasm C0031941 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 25 BXGD002318 Pituitary Adenoma C0032000 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 170 BXGD002319 Pituitary Apoplexy C0032001 disease C10;C19;C14 Nervous System Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD002320 Pituitary Diseases C0032002 E23.7 group C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 153 BXGD002321 Pituitary Neoplasms C0032019 group C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0002664 Abnormality of the endocrine system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 131 BXGD002322 Pityriasis Rosea C0032026 L42 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD002323 Pityriasis Rubra Pilaris C0032027 L44.0 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 32 BXGD002324 Placenta Accreta C0032044 O43.21 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Pathologic Function DOID:7 disease of anatomical entity T046 Pathologic Function 1 BXGD002325 Placenta Disorders C0032045 O43 group C13 Female Urogenital Diseases and Pregnancy Complications Pathologic Function DOID:7 disease of anatomical entity T046 Pathologic Function 6 BXGD002326 Placental Insufficiency C0032051 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 45 BXGD002327 Placentitis (disorder) C0032059 O41.14 phenotype C23;C16;C13;C01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD002328 Plague C0032064 A20 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 4 BXGD002329 Plasma cell mastitis C0032109 disease C13;C17 Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD002330 Plasmacytoma C0032131 C90.30 disease C04;C20 Neoplasms; Immune System Diseases Neoplastic Process HP:0002664;HP:0001871 Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 142 BXGD002331 Platelet aggregation C0032176 phenotype Cell Function T043 Cell Function 7 BXGD002332 Platelet Count measurement C0032181 phenotype Laboratory Procedure T059 Laboratory Procedure 265 BXGD002333 Platelet Storage Pool Deficiency C0032197 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 22 BXGD002334 Platybasia C0032209 Q75.8 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 18 BXGD002335 Pleural Diseases C0032226 group C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD002336 Pleural effusion disorder C0032227 J90 group C08 Respiratory Tract Diseases Disease or Syndrome HP:0001939;HP:0002086 Abnormality of metabolism/homeostasis; Abnormality of the respiratory system T047 Disease or Syndrome 227 BXGD002337 Pleural Neoplasms C0032229 group C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD002338 Pleural Rub C0032230 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0002086 Abnormality of the respiratory system T033 Finding 2 BXGD002339 Pleurisy C0032231 R09.1 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 82 BXGD002340 Pleuropneumonia C0032241 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD002341 Pneumocephalus C0032268 disease C10;C26 Nervous System Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 6 BXGD002342 Pneumococcal Infections C0032269 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 85 BXGD002343 Pneumoconiosis C0032273 J64 disease C08;C24 Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 33 BXGD002344 Pneumonia C0032285 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome HP:0002715;HP:0002086 Abnormality of the immune system; Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1032 BXGD002345 Aspiration Pneumonia C0032290 J69.0 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome HP:0002715;HP:0002086 Abnormality of the immune system; Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 32 BXGD002346 Lobar Pneumonia C0032300 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 140 BXGD002347 Mycoplasma pneumonia C0032302 J15.7 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 43 BXGD002348 Staphylococcal Pneumonia C0032308 J15.2 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD002349 Pneumonia, Viral C0032310 J12.9 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD002350 Pneumoperitoneum C0032320 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 28 BXGD002351 Pneumothorax C0032326 J93.9 phenotype C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 69 BXGD002352 Rothmund-Thomson syndrome C0032339 Q82.8 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 35 BXGD002353 Poliomyelitis C0032371 A80 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 23 BXGD002354 Polychondritis, Relapsing C0032453 M94.1 disease C17;C05 Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD002355 Polycystic Ovary Syndrome C0032460 E28.2 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:225 syndrome T047 Disease or Syndrome 988 BXGD002356 Polycythemia C0032461 D75.1 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 82 BXGD002357 Polycythemia Vera C0032463 D45 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 291 BXGD002358 Polymyalgia Rheumatica C0032533 M35.3 disease C17;C05 Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 51 BXGD002359 Polyneuritis C0032541 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 2 BXGD002360 Inflammatory polyp C0032568 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 3 BXGD002361 Polyploidy C0032578 phenotype C23 Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 4 BXGD002362 Adenomatous Polyposis Coli C0032580 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 609 BXGD002363 polyps C0032584 phenotype C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality T190 Anatomical Abnormality 390 BXGD002364 Polyradiculopathy C0032586 disease C10 Nervous System Diseases Disease or Syndrome DOID:7;DOID:225 disease of anatomical entity; syndrome T047 Disease or Syndrome 3 BXGD002365 Polyradiculoneuropathy C0032587 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD002366 Polysubstance dependence C0032606 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD002367 Polyuria C0032617 R35.8 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom HP:0000119 Abnormality of the genitourinary system T184 Sign or Symptom 73 BXGD002368 Disorders of Porphyrin Metabolism C0032708 E80.20 group C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 26 BXGD002369 Post-kala-azar dermal leishmaniasis C0032749 B55.0 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 28 BXGD002370 Postherpetic neuralgia C0032768 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 24 BXGD002371 Postoperative Complications C0032787 group C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 5 BXGD002372 Postpartum Amenorrhea C0032796 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 6 BXGD002373 Postpartum Hemorrhage C0032797 O72 phenotype C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function HP:0001871 Abnormality of blood and blood-forming tissues T046 Pathologic Function 6 BXGD002374 Postpericardiotomy Syndrome C0032805 I97.0 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD002375 Postphlebitic Syndrome C0032807 I87.0 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD002376 Potassium Deficiency C0032827 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD002377 Poxviridae Infections C0032870 group C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 10 BXGD002378 Prader-Willi Syndrome C0032897 Q87.11 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225;DOID:150 genetic disease; disease of anatomical entity; syndrome; disease of mental health T047 Disease or Syndrome 185 BXGD002379 Pre-Eclampsia C0032914 O14.90 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Pathologic Function HP:0001197 Abnormality of prenatal development or birth DOID:7 disease of anatomical entity T046 Pathologic Function 166 BXGD002380 Preexcitation Syndrome C0032915 I45.6 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7;DOID:225 disease of anatomical entity; syndrome T047 Disease or Syndrome 20 BXGD002381 Precancerous Conditions C0032927 group C04 Neoplasms Neoplastic Process T191 Neoplastic Process 471 BXGD002382 Pregnancy Complications C0032962 group C13 Female Urogenital Diseases and Pregnancy Complications Pathologic Function DOID:7 disease of anatomical entity T046 Pathologic Function 13 BXGD002383 Pregnancy Complications, Cardiovascular C0032963 disease C13;C14 Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD002384 Pregnancy Complications, Infectious C0032965 disease C13;C01 Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD002385 Pregnancy in Diabetics C0032969 O24.91 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 53 BXGD002386 Ectopic Pregnancy C0032987 O00 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Pathologic Function HP:0001197 Abnormality of prenatal development or birth DOID:7 disease of anatomical entity T046 Pathologic Function 48 BXGD002387 Pregnancy, Tubal C0032994 O00.10 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Pathologic Function T046 Pathologic Function 2 BXGD002388 Preleukemia C0033027 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 19 BXGD002389 Atrial Premature Complexes C0033036 I49.1 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 183 BXGD002390 Premature Ejaculation C0033038 F52.4 phenotype C12;F03 Male Urogenital Diseases; Mental Disorders Mental or Behavioral Dysfunction HP:0000119 Abnormality of the genitourinary system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 17 BXGD002391 Premenstrual syndrome C0033046 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 21 BXGD002392 Prenatal Exposure Delayed Effects C0033054 disease C13 Female Urogenital Diseases and Pregnancy Complications Injury or Poisoning T037 Injury or Poisoning 13 BXGD002393 Presbycusis C0033074 H91.1 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Pathologic Function HP:0000598 Abnormality of the ear T046 Pathologic Function 6 BXGD002394 Presbyopia C0033075 H52.4 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD002395 Pretibial myxedema C0033103 disease C17;C19 Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 4 BXGD002396 Priapism C0033117 N48.30 disease C12 Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 22 BXGD002397 Acanthamoeba Infection C0033129 B60.1 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 6 BXGD002398 Primary Hypersomnia C0033138 F51.11 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 7 BXGD002399 Primary Insomnia C0033139 F51.01 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 7 BXGD002400 Cardiomyopathies, Primary C0033141 group C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 108 BXGD002401 Proctitis C0033246 K62.89 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD002402 Proctocolitis C0033247 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD002403 Progeria C0033300 E34.8 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 118 BXGD002404 Prognathism C0033324 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD002405 Prolactinoma C0033375 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 187 BXGD002406 Ptosis C0033377 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 607 BXGD002407 Prostatic Diseases C0033575 N42.9 group C12 Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 72 BXGD002408 Prostatic Neoplasms C0033578 group C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process HP:0000119 Abnormality of the genitourinary system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1722 BXGD002409 Prostate nodule C0033579 disease C12 Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD002410 prostatitis C0033581 N41.9 disease C12 Male Urogenital Diseases Disease or Syndrome HP:0000119;HP:0002715 Abnormality of the genitourinary system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 86 BXGD002411 Prosthesis Loosening C0033587 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 6 BXGD002412 Protein Deficiency C0033626 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 125 BXGD002413 Protein-Energy Malnutrition C0033677 E46 phenotype C18 Nutritional and Metabolic Diseases Pathologic Function DOID:0014667 disease of metabolism T046 Pathologic Function 5 BXGD002414 Protein-Losing Enteropathies C0033680 group C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 17 BXGD002415 Proteinuria C0033687 R80 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system DOID:7 disease of anatomical entity T033 Finding 239 BXGD002416 Protozoan Infections C0033740 B50-B64 group C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 7 BXGD002417 Prune Belly Syndrome C0033770 Q79.4 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 83 BXGD002418 Prurigo C0033771 L28.2 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD002419 Pruritus C0033774 L29 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 107 BXGD002420 Pruritus Ani C0033775 L29.0 phenotype C06;C17 Digestive System Diseases; Skin and Connective Tissue Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD002421 Pseudarthrosis C0033785 phenotype C26 Wounds and Injuries Pathologic Function HP:0000924 Abnormality of the skeletal system T046 Pathologic Function 5 BXGD002422 Pseudo-Hurler Polydystrophy C0033788 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 7 BXGD002423 Pseudobulbar Palsy C0033790 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0025031;HP:0000707;HP:0001608 Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of the voice DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD002424 Pseudocoloboma C0033793 phenotype Acquired Abnormality T020 Acquired Abnormality 2 BXGD002425 Pseudogout C0033802 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD002426 Pseudohermaphroditism C0033804 Q56.3 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 16 BXGD002427 Pseudohypoaldosteronism C0033805 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 19 BXGD002428 Pseudohypoparathyroidism C0033806 E20.1 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 34 BXGD002429 Pseudomonas Infections C0033817 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 16 BXGD002430 Pseudomyxoma Peritonei C0033822 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 50 BXGD002431 Psychological pseudocyesis C0033831 phenotype F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 12 BXGD002432 Pseudopseudohypoparathyroidism C0033835 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 14 BXGD002433 Kimura Disease C0033838 disease C17;C15 Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD002434 Pseudorabies C0033839 disease C01;C10;C22 Infections; Nervous System Diseases; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 49 BXGD002435 Pseudotumor C0033844 G93.2 disease C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality T020 Acquired Abnormality 11 BXGD002436 Pseudotumor Cerebri C0033845 G93.2 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 33 BXGD002437 Pseudoxanthoma Elasticum C0033847 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 57 BXGD002438 Psoriasis C0033860 L40 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1308 BXGD002439 Tension Headache C0033893 G44.2 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 12 BXGD002440 Psychomotor Disorders C0033922 group C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 7 BXGD002441 Psychophysiologic Disorders C0033931 F45.9 group C23 Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD002442 Psychoses, Drug C0033937 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 23 BXGD002443 Psychoses, Substance-Induced C0033941 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 17 BXGD002444 Psychoses, Traumatic C0033943 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD002445 Psychosexual Disorders C0033953 group F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 6 BXGD002446 Psychosis, Brief Reactive C0033958 F23 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 14 BXGD002447 Psychotic Disorders C0033975 group F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 560 BXGD002448 Pterygium C0033999 disease C11 Eye Diseases Disease or Syndrome HP:0001574;HP:0000924 Abnormality of the integument; Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 216 BXGD002449 Delayed Puberty C0034012 E30.0 phenotype C19 Endocrine System Diseases Pathologic Function HP:0000818;HP:0001507 Abnormality of the endocrine system; Growth abnormality T046 Pathologic Function 196 BXGD002450 Precocious Puberty C0034013 E30.1 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 139 BXGD002451 Puerperal Disorders C0034040 group C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 1 BXGD002452 Pulmonary Alveolar Proteinosis C0034050 J84.01 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 51 BXGD002453 Pulmonary Edema C0034063 J81 phenotype C08 Respiratory Tract Diseases Pathologic Function HP:0001939;HP:0002086 Abnormality of metabolism/homeostasis; Abnormality of the respiratory system DOID:7 disease of anatomical entity T046 Pathologic Function 26 BXGD002454 Pulmonary Embolism C0034065 I26.99 disease C08;C14 Respiratory Tract Diseases; Cardiovascular Diseases Pathologic Function HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T046 Pathologic Function 93 BXGD002455 Pulmonary embolism with pulmonary infarction C0034066 phenotype C23;C08;C14 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD002456 Pulmonary Emphysema C0034067 J43.9 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 352 BXGD002457 Pulmonary Eosinophilia C0034068 disease C08;C15 Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 70 BXGD002458 Pulmonary Fibrosis C0034069 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 924 BXGD002459 Cor pulmonale C0034072 I27.81 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 25 BXGD002460 Pulmonary Infarction C0034074 disease C23;C08;C14 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD002461 Pulmonary Valve Insufficiency C0034088 phenotype C14 Cardiovascular Diseases Pathologic Function HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T046 Pathologic Function 22 BXGD002462 Pulmonary Valve Stenosis C0034089 disease C14 Cardiovascular Diseases Disease or Syndrome; Anatomical Abnormality DOID:7 disease of anatomical entity T047;T190 Disease or Syndrome; Anatomical Abnormality 16 BXGD002463 Pulmonary Veno-Occlusive Disease (disorder) C0034091 disease C08;C14 Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD002464 Pulpitis C0034103 K04.0 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 47 BXGD002465 Purine-Pyrimidine Metabolism, Inborn Errors C0034139 E79 group C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD002466 Purpura C0034150 D69.2 disease C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001574;HP:0001871;HP:0001626 Abnormality of the integument; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 68 BXGD002467 Henoch-Schoenlein Purpura C0034152 D69.0 disease C23;C20;C15;C14 Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 198 BXGD002468 Purpura, Thrombotic Thrombocytopenic C0034155 M31.1 disease C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 80 BXGD002469 Pyelonephritis C0034186 N16 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119;HP:0002715 Abnormality of the genitourinary system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 71 BXGD002470 Pyelonephritis, Xanthogranulomatous C0034188 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD002471 Pyemia C0034189 phenotype C23;C01 Pathological Conditions, Signs and Symptoms; Infections Pathologic Function T046 Pathologic Function 24 BXGD002472 Pyloric Stenosis C0034194 K31.1 phenotype C06 Digestive System Diseases Pathologic Function HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T046 Pathologic Function 121 BXGD002473 Pyoderma C0034212 L08.0 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD002474 Pyometra C0034215 N71 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 6 BXGD002475 Alveolar pyorrhea C0034219 K05.3 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD002476 Pyruvate Carboxylase Deficiency Disease C0034341 E74.4 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 14 BXGD002477 Pyruvate Dehydrogenase Complex Deficiency Disease C0034345 E74.4 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 18 BXGD002478 Pyruvate Metabolism, Inborn Errors C0034350 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD002479 Q Fever C0034362 A78 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 26 BXGD002480 Quadriplegia C0034372 G82.5 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 57 BXGD002481 Rabies (disorder) C0034494 A82.9 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 123 BXGD002482 Radiation Syndrome C0034535 disease C26 Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 14 BXGD002483 Radicular Cyst C0034543 K04.8 disease C04;C05;C07 Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 63 BXGD002484 Radiculitis C0034544 M54.1 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD002485 Rales C0034642 R09.89 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0002086 Abnormality of the respiratory system T033 Finding 23 BXGD002486 Raynaud Disease C0034734 I73.0 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD002487 Raynaud Phenomenon C0034735 I73.0 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 63 BXGD002488 Hyperacusis C0034880 H93.23 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 20 BXGD002489 Rectal Diseases C0034882 group C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD002490 Rectal Neoplasms C0034885 group C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 93 BXGD002491 Rectal polyp C0034887 K62.1 disease C23;C06;C04 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T191 Neoplastic Process 13 BXGD002492 Rectal Prolapse C0034888 K62.3 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 46 BXGD002493 Rectovaginal Fistula C0034895 N82.3 disease C23;C06;C13 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality HP:0025031;HP:0000119 Abnormality of the digestive system; Abnormality of the genitourinary system T190 Anatomical Abnormality 17 BXGD002494 Pure Red-Cell Aplasia C0034902 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 49 BXGD002495 Reflex Sympathetic Dystrophy C0034931 M89.0 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD002496 Reflex, Abnormal C0034933 R29.2 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 7 BXGD002497 Babinski Reflex C0034935 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 218 BXGD002498 Refractive Errors C0034951 H52.7 group C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 71 BXGD002499 Refsum Disease C0034960 G60.1 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 9 BXGD002500 Reiter Syndrome C0035012 M02.3 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD002501 Relapsing Fever C0035021 A68 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 48 BXGD002502 Tick-borne relapsing fever C0035022 A68.1 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 6 BXGD002503 Renal Artery Obstruction C0035066 N28.0 disease C13;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD002504 Renal Artery Stenosis C0035067 disease C13;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000119;HP:0001626 Abnormality of the genitourinary system; Abnormality of the cardiovascular system T047 Disease or Syndrome 37 BXGD002505 Kidney Failure C0035078 N19 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 378 BXGD002506 Renal Osteodystrophy C0035086 N25.0 disease C18;C13;C05;C12;C19 Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD002507 Renal Tubular Transport, Inborn Errors C0035091 group C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD002508 Reoviridae Infections C0035112 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 38 BXGD002509 Reperfusion Injury C0035126 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Injury or Poisoning T037 Injury or Poisoning 300 BXGD002510 Cumulative Trauma Disorders C0035127 group C26 Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 6 BXGD002511 Respiration Disorders C0035204 J00-J99 group C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 208 BXGD002512 Respiratory Distress Syndrome, Newborn C0035220 P22.9 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 177 BXGD002513 Respiratory Distress Syndrome, Adult C0035222 J80 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 434 BXGD002514 Respiratory Function Tests C0035227 phenotype Diagnostic Procedure T060 Diagnostic Procedure 67 BXGD002515 Respiratory Hypersensitivity C0035228 phenotype C08;C20 Respiratory Tract Diseases; Immune System Diseases Pathologic Function T046 Pathologic Function 23 BXGD002516 Respiratory Insufficiency C0035229 phenotype C08 Respiratory Tract Diseases Pathologic Function HP:0002086 Abnormality of the respiratory system T046 Pathologic Function 315 BXGD002517 Respiratory Paralysis C0035232 phenotype C23;C08;C10 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases Finding HP:0000707;HP:0002086;HP:0003011 Abnormality of the nervous system; Abnormality of the respiratory system; Abnormality of the musculature T033 Finding 13 BXGD002518 Respiratory Sounds C0035234 phenotype C23 Pathological Conditions, Signs and Symptoms Clinical Attribute T201 Clinical Attribute 2 BXGD002519 Respiratory Syncytial Virus Infections C0035235 group C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 244 BXGD002520 Congenital abnormality of respiratory system C0035238 Q34.9 group C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD002521 Respiratory Tract Diseases C0035242 group C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 198 BXGD002522 Respiratory Tract Infections C0035243 group C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system T047 Disease or Syndrome 187 BXGD002523 Restless Legs Syndrome C0035258 G25.81 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 126 BXGD002524 Reticuloendotheliosis, X-linked C0035288 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Neoplastic Process DOID:0050117 disease by infectious agent T191 Neoplastic Process 48 BXGD002525 Reticulohistiocytic granuloma C0035290 disease C15 Hemic and Lymphatic Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 1 BXGD002526 Abnormal retinal morphology C0035300 phenotype C11 Eye Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 13 BXGD002527 Retinal Artery Occlusion C0035302 disease C11;C14 Eye Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000152;HP:0000478;HP:0001626 Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD002528 Retinal Degeneration C0035304 phenotype C11 Eye Diseases Pathologic Function HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T046 Pathologic Function 125 BXGD002529 Retinal Detachment C0035305 H33.2 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 148 BXGD002530 Retinal Diseases C0035309 H35.9 group C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 714 BXGD002531 Retinal Drusen C0035312 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD002532 Retinal Dysplasia C0035313 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 34 BXGD002533 Retinal Hemorrhage C0035317 H35.60 phenotype C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome HP:0001871;HP:0000478;HP:0001626 Abnormality of blood and blood-forming tissues; Abnormality of the eye; Abnormality of the cardiovascular system T047 Disease or Syndrome 16 BXGD002534 Retinal Necrosis Syndrome, Acute C0035319 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD002535 Retinal Neovascularization C0035320 phenotype C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function HP:0000478;HP:0001626 Abnormality of the eye; Abnormality of the cardiovascular system T046 Pathologic Function 12 BXGD002536 Retinal Perforations C0035321 group C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD002537 Retinal Vein Occlusion C0035328 disease C11;C14 Eye Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000478;HP:0001626 Abnormality of the eye; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 76 BXGD002538 Retinitis C0035333 H30.9 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 20 BXGD002539 Retinitis Pigmentosa C0035334 H35.52 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 546 BXGD002540 Retinoblastoma C0035335 disease C04;C11 Neoplasms; Eye Diseases Neoplastic Process HP:0002664;HP:0000478 Neoplasm; Abnormality of the eye DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 853 BXGD002541 Retinopathy of Prematurity C0035344 H35.17 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 202 BXGD002542 Retrograde Degeneration C0035354 phenotype C23 Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 1 BXGD002543 Retroviridae Infections C0035369 B33.3 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 112 BXGD002544 Rett Syndrome C0035372 F84.2 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 234 BXGD002545 Reye Syndrome C0035400 G93.7 disease C06;C18;C10 Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 3 BXGD002546 Rhabdomyolysis C0035410 M62.82 phenotype C05 Musculoskeletal Diseases Pathologic Function HP:0003011 Abnormality of the musculature T046 Pathologic Function 36 BXGD002547 Rhabdomyoma C0035411 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0003011 Neoplasm; Abnormality of the musculature T191 Neoplastic Process 16 BXGD002548 Rhabdomyosarcoma C0035412 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0003011 Neoplasm; Abnormality of the musculature DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 565 BXGD002549 Rheumatism C0035435 M79.0 disease C17;C05 Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 197 BXGD002550 Rheumatic Fever C0035436 I00-I02 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 94 BXGD002551 Rheumatic Heart Disease C0035439 I09.9 disease C01;C14 Infections; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 102 BXGD002552 Acute rheumatic heart disease C0035440 I01.9 disease C01;C05;C14 Infections; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 2 BXGD002553 Rheumatoid Nodule C0035450 M06.3 disease C17;C05 Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality T020 Acquired Abnormality 26 BXGD002554 Rhinitis C0035455 disease C01;C08;C09 Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 178 BXGD002555 Rhinitis, Allergic, Perennial C0035457 J30.89 disease C08;C20;C09 Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD002556 Rhinitis, Vasomotor C0035460 J30.0 disease C08;C09 Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD002557 Rhinoscleroma C0035468 disease C01;C17;C08;C09 Infections; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 1 BXGD002558 Rhonchi C0035508 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0002086 Abnormality of the respiratory system T033 Finding 2 BXGD002559 Riboflavin Deficiency C0035528 E53.0 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667 disease of metabolism T047 Disease or Syndrome 5 BXGD002560 Rickets C0035579 E55.0 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 72 BXGD002561 Rickettsia Infections C0035585 A75-A79 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 22 BXGD002562 Rift Valley Fever C0035613 A92.4 disease C06;C01;C22 Digestive System Diseases; Infections; Animal Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 45 BXGD002563 Right aortic arch (disorder) C0035615 Q25.47 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 4 BXGD002564 Ventricular Outflow Obstruction, Right C0035619 phenotype C14 Cardiovascular Diseases Pathologic Function HP:0001626 Abnormality of the cardiovascular system T046 Pathologic Function 1 BXGD002565 Rocky Mountain Spotted Fever C0035793 A77.0 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 3 BXGD002566 Romano-Ward Syndrome C0035828 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 22 BXGD002567 Root Resorption C0035851 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 43 BXGD002568 Rosacea C0035854 L71.9 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 41 BXGD002569 Rotavirus Infections C0035869 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 84 BXGD002570 Rubella C0035920 B06 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 82 BXGD002571 Congenital Rubella Syndrome C0035921 P35.0 disease C16;C01 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD002572 Rubinstein-Taybi Syndrome C0035934 Q87.2 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 31 BXGD002573 Saldino-Noonan Syndrome C0036069 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 16 BXGD002574 Sialolithiasis C0036091 K11.5 disease C23;C07 Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD002575 Salivary Gland Diseases C0036093 K11.9 group C07 Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 5 BXGD002576 Salivary Gland Neoplasms C0036095 group C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process HP:0002664;HP:0000152 Neoplasm; Abnormality of head or neck T191 Neoplastic Process 116 BXGD002577 Salmonella infections C0036117 A02.9 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 96 BXGD002578 Salmonella Infections, Animal C0036118 group C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD002579 Salpingitis C0036130 N70.91 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD002580 Sandhoff Disease C0036161 E75.01 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 21 BXGD002581 Sarcoidosis C0036202 D86 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 413 BXGD002582 Cutaneous sarcoidosis C0036203 D86.3 disease C17;C15 Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD002583 Sarcoidosis, Pulmonary C0036205 D86.0 disease C08;C15 Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 81 BXGD002584 Sarcoma 180 C0036211 disease C04 Neoplasms Neoplastic Process; Experimental Model of Disease T191;T050 Neoplastic Process; Experimental Model of Disease 20 BXGD002585 Sarcoma, Engelbreth-Holm-Swarm C0036214 disease C04 Neoplasms Neoplastic Process; Experimental Model of Disease T191;T050 Neoplastic Process; Experimental Model of Disease 2 BXGD002586 Sarcoma, Experimental C0036216 disease C04 Neoplasms Neoplastic Process; Experimental Model of Disease T191;T050 Neoplastic Process; Experimental Model of Disease 7 BXGD002587 Kaposi Sarcoma C0036220 C46.9 disease C04;C01 Neoplasms; Infections Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 488 BXGD002588 Mast-Cell Sarcoma C0036221 C96.22 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 27 BXGD002589 Sarcoma, Yoshida C0036224 disease C04 Neoplasms Neoplastic Process; Experimental Model of Disease T191;T050 Neoplastic Process; Experimental Model of Disease 6 BXGD002590 Sarcocystosis C0036231 A07.8 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 2 BXGD002591 Burn scar C0036280 disease C23;C26 Pathological Conditions, Signs and Symptoms; Wounds and Injuries Acquired Abnormality T020 Acquired Abnormality 11 BXGD002592 Scarlet Fever C0036285 A38.9 disease C01 Infections Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD002593 Schamberg Disease C0036305 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD002594 Scheuermann's Disease C0036310 M42.0 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD002595 Schistosomiasis C0036323 B65.9 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 152 BXGD002596 Schistosomiasis japonica C0036329 B65.2 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 27 BXGD002597 Schistosomiasis mansoni C0036330 B65.1 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 27 BXGD002598 Schizoaffective Disorder C0036337 F25 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 126 BXGD002599 Schizoid Personality Disorder C0036339 F60.1 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD002600 Schizophrenia C0036341 F20.9 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 2872 BXGD002601 Schizophrenia, Catatonic C0036344 F20.2 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 8 BXGD002602 Schizophrenia, Childhood C0036346 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 33 BXGD002603 Schizophrenia, Disorganized C0036347 F20.1 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD002604 Paranoid Schizophrenia C0036349 F20.0 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 53 BXGD002605 Residual schizophrenia C0036351 F20.5 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD002606 Schizophreniform Disorders C0036358 F20.81 group F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 20 BXGD002607 Schizotypal Personality Disorder C0036363 F21 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 23 BXGD002608 Schwartz-Jampel Syndrome C0036391 G71.13 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 77 BXGD002609 Sciatica C0036396 M54.3 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0025142;HP:0000924 Constitutional symptom; Abnormality of the skeletal system T184 Sign or Symptom 24 BXGD002610 Scleredema Adultorum C0036413 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD002611 Scleritis C0036416 H15.0 disease C11 Eye Diseases Disease or Syndrome HP:0002715;HP:0000478 Abnormality of the immune system; Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD002612 Localized scleroderma C0036420 L94.0 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 51 BXGD002613 Systemic Scleroderma C0036421 M34.0 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 979 BXGD002614 Sclerosis C0036429 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 24 BXGD002615 Scoliosis, unspecified C0036439 M41.9 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 850 BXGD002616 Scotoma C0036454 H53.45 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T033 Finding 21 BXGD002617 Scrapie C0036457 disease C01;C10;C22 Infections; Nervous System Diseases; Animal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD002618 Scrub Typhus C0036472 A75.3 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 58 BXGD002619 Scurvy C0036474 E54 disease C18;C15;C14 Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 3 BXGD002620 Sea-Blue Histiocyte Syndrome C0036489 disease C16;C18;C10;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD002621 Sebaceous Gland Diseases C0036502 group C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD002622 Sebaceous Gland Neoplasms C0036503 group C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD002623 Seborrheic dermatitis C0036508 L21.9 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 39 BXGD002624 Myocardial Diseases, Secondary C0036529 group C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 101 BXGD002625 Seizures C0036572 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T184 Sign or Symptom 2152 BXGD002626 Seminoma C0036631 disease C04 Neoplasms Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 311 BXGD002627 Age-related cataract C0036646 H25 disease C11 Eye Diseases Acquired Abnormality HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T020 Acquired Abnormality 92 BXGD002628 Solar lentigo C0036651 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 15 BXGD002629 Septicaemia due to gram-negative organism, unspecified C0036685 A41.50 group C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 33 BXGD002630 Gram positive sepsis C0036686 group C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 5 BXGD002631 Streptococcal sore throat C0036689 J02.0 disease C01;C08;C07;C09 Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD002632 Septicemia C0036690 A41.9 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome HP:0002715 Abnormality of the immune system T047 Disease or Syndrome 1285 BXGD002633 Serositis C0036749 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0002715 Abnormality of the immune system T046 Pathologic Function 1 BXGD002634 Sertoli Cell Tumor C0036769 disease C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD002635 SERUM CHLORIDE ION TESTS C0036787 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD002636 Serum Sickness C0036830 T80.6 disease C17;C20;C25 Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 9 BXGD002637 Serum total protein measurement C0036836 phenotype Laboratory Procedure T059 Laboratory Procedure 4 BXGD002638 Severe intellectual disability C0036857 F72 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:630;DOID:150 genetic disease; disease of mental health T048 Mental or Behavioral Dysfunction 429 BXGD002639 Sex Chromosome Aberrations C0036868 group C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 8 BXGD002640 Disorders of Sex Development C0036875 group C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 39 BXGD002641 Sexual Arousal Disorder C0036902 F52.2 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 7 BXGD002642 Sexual Sadism C0036913 F65.52 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 2 BXGD002643 Sexually Transmitted Diseases C0036916 A64 group C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 75 BXGD002644 Sexually Transmitted Diseases, Bacterial C0036917 group C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD002645 Sezary Syndrome C0036920 C84.1 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 196 BXGD002646 Shared Paranoid Disorder C0036939 F84.3 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 27 BXGD002647 Shivering C0036973 phenotype Finding HP:0025142 Constitutional symptom T033 Finding 1 BXGD002648 Shock C0036974 R57.9 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0001626 Abnormality of the cardiovascular system T046 Pathologic Function 25 BXGD002649 Shock, Cardiogenic C0036980 R57.0 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function HP:0001626 Abnormality of the cardiovascular system T046 Pathologic Function 6 BXGD002650 Endotoxic shock C0036981 phenotype C23;C01 Pathological Conditions, Signs and Symptoms; Infections Pathologic Function T046 Pathologic Function 6 BXGD002651 Shock, Hemorrhagic C0036982 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 41 BXGD002652 Septic Shock C0036983 phenotype C23;C01 Pathological Conditions, Signs and Symptoms; Infections Pathologic Function DOID:0050117 disease by infectious agent T046 Pathologic Function 37 BXGD002653 Shock, Traumatic C0036986 T79.4 phenotype C23;C26 Pathological Conditions, Signs and Symptoms; Wounds and Injuries Pathologic Function T046 Pathologic Function 1 BXGD002654 Short Bowel Syndrome C0036992 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 21 BXGD002655 Short Rib-Polydactyly Syndrome C0036996 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 21 BXGD002656 Shoulder Pain C0037011 M25.51 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 18 BXGD002657 Shwartzman Phenomenon C0037018 disease C15;C14 Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD002658 Shy-Drager Syndrome C0037019 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD002659 Shyness C0037020 phenotype F01 Behavior and Behavior Mechanisms Social Behavior HP:0000707 Abnormality of the nervous system T054 Social Behavior 9 BXGD002660 Sialadenitis C0037023 K11.2 disease C07 Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 42 BXGD002661 Sialorrhea C0037036 K11.7 disease C07 Stomatognathic Diseases Disease or Syndrome HP:0000707;HP:0000152 Abnormality of the nervous system; Abnormality of head or neck T047 Disease or Syndrome 32 BXGD002662 Sick Sinus Syndrome C0037052 I49.5 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 51 BXGD002663 Sickle Cell Trait C0037054 D57.3 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 75 BXGD002664 Siderosis C0037061 J63.4 disease C08;C24 Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 23 BXGD002665 Signs and Symptoms, Respiratory C0037090 group C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 73 BXGD002666 Silicosis C0037116 J62.8 disease C08;C24 Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 121 BXGD002667 B Virus Infection C0037140 B00.4 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD002668 Simple cyst C0037157 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Anatomical Abnormality T190 Anatomical Abnormality 3 BXGD002669 Sinoatrial Block C0037188 I45.5 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 1 BXGD002670 Sinus Thrombosis, Intracranial C0037198 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 17 BXGD002671 Sinusitis C0037199 J32 disease C01;C08;C09 Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0002715;HP:0000152;HP:0000924 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 97 BXGD002672 Sirenomelia C0037205 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0040064 Abnormality of limbs T047 Disease or Syndrome 11 BXGD002673 Situs Inversus C0037221 Q89.3 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0025031;HP:0001626;HP:0001507 Abnormality of the digestive system; Abnormality of the cardiovascular system; Growth abnormality DOID:0080015 physical disorder T019 Congenital Abnormality 138 BXGD002674 Sjogren-Larsson Syndrome C0037231 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 20 BXGD002675 Skin Abnormalities C0037268 Q82.9 group C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T019 Congenital Abnormality 106 BXGD002676 Dermatologic disorders C0037274 group C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 617 BXGD002677 Skin Diseases, Genetic C0037277 group C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 57 BXGD002678 Skin Diseases, Infectious C0037278 L00-L08 group C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 74 BXGD002679 Skin lesion C0037284 group C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 563 BXGD002680 Skin Manifestations C0037285 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 50 BXGD002681 Skin Neoplasms C0037286 group C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 363 BXGD002682 Skin nodule C0037287 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Pathologic Function HP:0001574 Abnormality of the integument T046 Pathologic Function 8 BXGD002683 Skin Pigmentation C0037290 phenotype Organ or Tissue Function T042 Organ or Tissue Function 24 BXGD002684 Skin tag C0037293 phenotype C23;C04;C17 Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T191 Neoplastic Process 17 BXGD002685 Skin Ulcer C0037299 L98.4 phenotype C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 151 BXGD002686 Skin Wrinkling C0037301 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 12 BXGD002687 Sleep Apnea Syndromes C0037315 G47.3 disease C08;C10 Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome HP:0000707;HP:0002086 Abnormality of the nervous system; Abnormality of the respiratory system DOID:630;DOID:7;DOID:150 genetic disease; disease of anatomical entity; disease of mental health T047 Disease or Syndrome 148 BXGD002688 Sleep Deprivation C0037316 Z72.820 phenotype C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Finding T033 Finding 14 BXGD002689 Sleep disturbances C0037317 phenotype C10;F03;F01 Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 311 BXGD002690 Smallpox C0037354 B03 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 39 BXGD002691 Smoking C0037369 phenotype F01 Behavior and Behavior Mechanisms Individual Behavior DOID:150 disease of mental health T055 Individual Behavior 391 BXGD002692 Sneezing C0037383 R06.7 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0002086 Abnormality of the respiratory system T184 Sign or Symptom 21 BXGD002693 Snoring C0037384 R06.83 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0000707;HP:0002086 Abnormality of the nervous system; Abnormality of the respiratory system T184 Sign or Symptom 23 BXGD002694 Soft Tissue Neoplasms C0037579 group C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 145 BXGD002695 Somatoform Disorder C0037650 F45.9 group F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 2 BXGD002696 Somatostatinoma C0037661 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD002697 Somnambulism C0037672 F51.3 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 3 BXGD002698 Sparganosis C0037753 B70.1 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 1 BXGD002699 Spasm C0037763 M62.83 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 172 BXGD002700 Spasmophilia C0037768 phenotype C23;C18;C10 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD002701 West Syndrome C0037769 G40.82 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 149 BXGD002702 Paraparesis, Spastic C0037771 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T184 Sign or Symptom 75 BXGD002703 Spastic Paraplegia C0037772 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T047 Disease or Syndrome 144 BXGD002704 Spastic Paraplegia, Hereditary C0037773 G11.4 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 123 BXGD002705 Specific reading disorder C0037789 F81.0 phenotype C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 6 BXGD002706 Speech Disorders C0037822 group C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T047 Disease or Syndrome 183 BXGD002707 Spermatic Cord Torsion C0037856 N44.0 disease C12 Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 23 BXGD002708 Spermatocele C0037859 N50.3 disease C23;C12 Pathological Conditions, Signs and Symptoms; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD002709 Hereditary spherocytosis C0037889 D58.0 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 53 BXGD002710 Sphingolipidoses C0037899 E75.3 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 17 BXGD002711 Spina Bifida Cystica C0037917 Q05 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T019 Congenital Abnormality 21 BXGD002712 Compression of spinal cord C0037926 G95.20 disease C10;C26 Nervous System Diseases; Wounds and Injuries Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 60 BXGD002713 Spinal Cord Diseases C0037928 G95.9 group C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 84 BXGD002714 Spinal Cord Neoplasms C0037930 group C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 27 BXGD002715 Spinal Diseases C0037933 M48.9 group C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD002716 Spinal Neoplasms C0037939 group C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 14 BXGD002717 Spinal Osteophytosis C0037942 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD002718 Spinal Stenosis C0037944 M48.00 disease C05 Musculoskeletal Diseases Acquired Abnormality DOID:7 disease of anatomical entity T020 Acquired Abnormality 6 BXGD002719 Spinocerebellar Degeneration C0037952 group C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD002720 Spirochaetales Infections C0037974 A69.9 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD002721 Splenic Diseases C0037997 D73.9 group C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD002722 Splenic Neoplasms C0037999 group C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD002723 Splenomegaly C0038002 R16.1 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0025031;HP:0002715;HP:0001626 Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system T033 Finding 345 BXGD002724 Spondylitis C0038012 M46.9 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 20 BXGD002725 Ankylosing spondylitis C0038013 M45 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 710 BXGD002726 Spondyloepiphyseal Dysplasia C0038015 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 29 BXGD002727 Spondylolisthesis C0038016 M43.1 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 28 BXGD002728 Congenital spondylolisthesis C0038017 Q76.2 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 17 BXGD002729 Spondylolysis C0038018 M43.0 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD002730 Spondylosis C0038019 M47.9 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD002731 Sporotrichosis C0038034 B42 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 10 BXGD002732 Spotted Fever Group Rickettsiosis C0038041 A77.9 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 5 BXGD002733 Staphylococcal Food Poisoning C0038159 A05.0 disease C01;C25 Infections; Chemically-Induced Disorders Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 3 BXGD002734 Staphylococcal Infections C0038160 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 37 BXGD002735 Staphylococcal Scalded Skin Syndrome C0038165 L00 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 7 BXGD002736 Staphylococcal Skin Infections C0038166 group C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD002737 Starvation C0038187 T73.0 phenotype C18 Nutritional and Metabolic Diseases Finding T033 Finding 10 BXGD002738 Status Asthmaticus C0038218 phenotype C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome HP:0002715;HP:0002086 Abnormality of the immune system; Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD002739 Status Dysraphicus C0038219 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 12 BXGD002740 Status Epilepticus C0038220 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 533 BXGD002741 Steatorrhea C0038238 phenotype C06;C18 Digestive System Diseases; Nutritional and Metabolic Diseases Finding HP:0025031 Abnormality of the digestive system T033 Finding 37 BXGD002742 Stereotyped Behavior C0038271 disease F01 Behavior and Behavior Mechanisms Individual Behavior HP:0000707 Abnormality of the nervous system T055 Individual Behavior 135 BXGD002743 Stereotypic Movement Disorder C0038273 F98.4 phenotype F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 192 BXGD002744 Sterility, Postpartum C0038279 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Pathologic Function T046 Pathologic Function 28 BXGD002745 Stevens-Johnson Syndrome C0038325 L51.1 disease C17;C20;C25;C07 Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 67 BXGD002746 Stomach Diseases C0038354 group C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 70 BXGD002747 Stomach Neoplasms C0038356 group C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 820 BXGD002748 Gastric ulcer C0038358 K25 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 136 BXGD002749 Stomatitis C0038362 K12.1 disease C07 Stomatognathic Diseases Disease or Syndrome HP:0002715;HP:0000152 Abnormality of the immune system; Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 109 BXGD002750 Aphthous Stomatitis C0038363 disease C07 Stomatognathic Diseases Disease or Syndrome HP:0002715;HP:0000152 Abnormality of the immune system; Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD002751 Stomatitis, Denture C0038364 K12.1 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD002752 Strabismus C0038379 H50.9 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 716 BXGD002753 Streptococcal Infections C0038395 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 34 BXGD002754 Streptozotocin Diabetes C0038433 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease T050 Experimental Model of Disease 112 BXGD002755 Post-Traumatic Stress Disorder C0038436 F43.10 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 418 BXGD002756 Stress Disorders, Traumatic C0038441 group F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 20 BXGD002757 Stress, Psychological C0038443 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 199 BXGD002758 Stricture of artery C0038449 I77.1 phenotype C14 Cardiovascular Diseases Pathologic Function HP:0001626 Abnormality of the cardiovascular system T046 Pathologic Function 16 BXGD002759 Stridor C0038450 R06.1 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0002086 Abnormality of the respiratory system T184 Sign or Symptom 31 BXGD002760 Cerebrovascular accident C0038454 I63.9 group C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1658 BXGD002761 Stromal Dystrophies, Corneal C0038457 group C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD002762 Strongyloidiasis C0038463 B78 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 6 BXGD002763 Supernumerary structure C0038476 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 5 BXGD002764 Struma Ovarii C0038478 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD002765 Sturge-Weber Syndrome C0038505 Q85.8 disease C04;C10;C14 Neoplasms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 25 BXGD002766 Stuttering C0038506 F80.81 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 34 BXGD002767 Subacute Sclerosing Panencephalitis C0038522 A81.1 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 47 BXGD002768 Subarachnoid Hemorrhage C0038525 disease C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000707;HP:0001871;HP:0001626 Abnormality of the nervous system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T047 Disease or Syndrome 501 BXGD002769 Subchondral Cysts C0038529 disease C04;C05 Neoplasms; Musculoskeletal Diseases Acquired Abnormality T020 Acquired Abnormality 3 BXGD002770 Submandibular Gland Diseases C0038557 group C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD002771 Substance Dependence C0038580 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 156 BXGD002772 Substance Use Disorders C0038586 group C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 218 BXGD002773 Substance Withdrawal Syndrome C0038587 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 80 BXGD002774 Subungual exostoses C0038604 disease C04;C17;C05 Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD002775 Subungual hyperkeratosis C0038605 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 5 BXGD002776 Sudden infant death syndrome C0038644 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 140 BXGD002777 Suicide C0038661 phenotype F01 Behavior and Behavior Mechanisms Finding T033 Finding 2 BXGD002778 Suicide attempt C0038663 T14.91 phenotype F01 Behavior and Behavior Mechanisms Injury or Poisoning T037 Injury or Poisoning 31 BXGD002779 Superinfection C0038826 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 85 BXGD002780 Superior Mesenteric Artery Syndrome C0038828 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD002781 Progressive supranuclear palsy C0038868 G23.1 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 176 BXGD002782 Neuralgia, Supraorbital C0038870 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD002783 Supratentorial Neoplasms C0038874 group C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD002784 Surgical Wound Dehiscence C0038940 T81.31 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 1 BXGD002785 Sweat Gland Neoplasms C0038987 group C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD002786 Swine Vesicular Disease C0039010 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD002787 Syncope C0039070 R55 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0001626 Abnormality of the cardiovascular system T184 Sign or Symptom 119 BXGD002788 Syndactyly C0039075 Q70 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:7 disease of anatomical entity T019 Congenital Abnormality 127 BXGD002789 Congenital abnormal Synostosis C0039093 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 25 BXGD002790 synovial sarcoma C0039101 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 299 BXGD002791 Synovitis C0039103 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 197 BXGD002792 Synovitis and tenosynovitis C0039104 M65 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD002793 Pigmented villonodular synovitis C0039106 M12.2 disease C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 15 BXGD002794 Syphilis C0039128 A53.9 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 80 BXGD002795 Syphilis, Latent C0039133 A53.0 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 3 BXGD002796 Syringomyelia C0039144 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 35 BXGD002797 Syrinx formation C0039147 disease Anatomical Abnormality T190 Anatomical Abnormality 18 BXGD002798 Tabes Dorsalis C0039223 A52.11 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 2 BXGD002799 Tachycardia C0039231 R00.0 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 73 BXGD002800 Tachycardia, Atrioventricular Nodal Reentry C0039232 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD002801 Tachycardia, Ectopic Atrial C0039234 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 3 BXGD002802 Tachycardia, Ectopic Junctional C0039235 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 2 BXGD002803 Sinus Tachycardia C0039239 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 29 BXGD002804 Supraventricular tachycardia C0039240 I47.1 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 50 BXGD002805 Takayasu Arteritis C0039263 M31.4 disease C17;C14 Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 136 BXGD002806 Talipes cavus C0039273 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality HP:0040064 Abnormality of limbs T190 Anatomical Abnormality 213 BXGD002807 Tangier Disease C0039292 E78.6 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 31 BXGD002808 Taste Disorders C0039338 group C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD002809 Tay-Sachs Disease C0039373 E75.02 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 26 BXGD002810 Hereditary hemorrhagic telangiectasia C0039445 I78.0 disease C16;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 42 BXGD002811 Telangiectasis C0039446 disease C14 Cardiovascular Diseases Finding HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T033 Finding 43 BXGD002812 Temperament C0039474 phenotype F01 Behavior and Behavior Mechanisms Mental Process T041 Mental Process 2 BXGD002813 Giant Cell Arteritis C0039483 disease C17;C20;C10;C14 Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 260 BXGD002814 Temporomandibular Joint Disorders C0039494 M26.6 group C05;C07 Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 84 BXGD002815 Temporomandibular Joint Dysfunction Syndrome C0039496 disease C05;C07 Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 24 BXGD002816 Tendinitis C0039503 M77.9 disease C05;C26 Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD002817 Tennis Elbow C0039516 M77.1 disease C05;C26 Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD002818 Tenosynovitis C0039520 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD002819 Teratoma C0039538 disease C04 Neoplasms Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:14566 disease of cellular proliferation T191 Neoplastic Process 171 BXGD002820 Testicular Diseases C0039584 group C12;C19 Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD002821 Androgen-Insensitivity Syndrome C0039585 E34.5 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 247 BXGD002822 Testicular Neoplasms C0039590 group C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 124 BXGD002823 Tetanus C0039614 A35 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 1 BXGD002824 Tetany C0039621 R29.0 disease C23;C18;C10 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 24 BXGD002825 Tetralogy of Fallot C0039685 Q21.3 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T019 Congenital Abnormality 274 BXGD002826 Thalassemia C0039730 D56.9 group C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 136 BXGD002827 Thanatophoric Dysplasia C0039743 Q77.1 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 12 BXGD002828 Thecoma C0039747 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD002829 Thiamine Deficiency C0039841 E51.9 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667 disease of metabolism T047 Disease or Syndrome 17 BXGD002830 Thoracic Diseases C0039978 group C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD002831 Thoracic Neoplasms C0039981 group C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD002832 Thoracic Outlet Syndrome C0039984 G54.0 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD002833 Thrombasthenia C0040015 D69.1 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 48 BXGD002834 Thromboangiitis Obliterans C0040021 I73.1 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 127 BXGD002835 Thrombocythemia, Essential C0040028 D47.3 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 220 BXGD002836 Thrombocytopenia C0040034 D69.6 phenotype C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 592 BXGD002837 Thromboembolism C0040038 phenotype C14 Cardiovascular Diseases Pathologic Function HP:0001871 Abnormality of blood and blood-forming tissues T046 Pathologic Function 25 BXGD002838 Thrombophlebitis C0040046 disease C14 Cardiovascular Diseases Pathologic Function HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T046 Pathologic Function 3 BXGD002839 Thrombosis C0040053 phenotype C14 Cardiovascular Diseases Pathologic Function DOID:7 disease of anatomical entity T046 Pathologic Function 98 BXGD002840 Thymoma C0040100 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process HP:0000818;HP:0002715;HP:0002664;HP:0001626 Abnormality of the endocrine system; Abnormality of the immune system; Neoplasm; Abnormality of the cardiovascular system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 291 BXGD002841 Thymus Hyperplasia C0040115 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0000818;HP:0002715;HP:0001626 Abnormality of the endocrine system; Abnormality of the immune system; Abnormality of the cardiovascular system T047 Disease or Syndrome 30 BXGD002842 Thyroglossal Cyst C0040124 Q89.2 disease C04 Neoplasms Congenital Abnormality HP:0000818 Abnormality of the endocrine system T019 Congenital Abnormality 8 BXGD002843 Thyroid Crisis C0040127 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD002844 Thyroid Diseases C0040128 E07.9 group C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 230 BXGD002845 Thyroid Neoplasm C0040136 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0002664 Abnormality of the endocrine system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1164 BXGD002846 Thyroid Nodule C0040137 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process HP:0000818 Abnormality of the endocrine system T191 Neoplastic Process 150 BXGD002847 Thyroiditis C0040147 E06.9 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818;HP:0002715 Abnormality of the endocrine system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 104 BXGD002848 Subacute thyroiditis C0040149 E06.1 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD002849 Thyrotoxicosis C0040156 E05.9 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 37 BXGD002850 Tic disorder C0040188 F95 disease C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 33 BXGD002851 Tick-borne fever C0040199 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD002852 Tinea C0040247 B35.9 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 21 BXGD002853 Tinea Capitis C0040250 B35.0 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 13 BXGD002854 Tinea corporis (disorder) C0040252 B35.4 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 3 BXGD002855 Onychomycosis C0040261 B35.1 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome HP:0002715 Abnormality of the immune system T047 Disease or Syndrome 27 BXGD002856 Tinea Versicolor C0040262 B36.0 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 2 BXGD002857 Tinnitus C0040264 H93.19 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000598 Abnormality of the ear T047 Disease or Syndrome 103 BXGD002858 Tobacco Dependence C0040332 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 34 BXGD002859 Tongue Neoplasms C0040411 group C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process HP:0002664;HP:0000152 Neoplasm; Abnormality of head or neck DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 62 BXGD002860 Fissured tongue C0040412 K14.5 disease C07 Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 36 BXGD002861 Tonometry C0040420 phenotype Diagnostic Procedure T060 Diagnostic Procedure 206 BXGD002862 Tonsillar Neoplasms C0040422 group C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD002863 Tonsillitis C0040425 disease C01;C08;C07;C09 Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 48 BXGD002864 Tooth Abnormalities C0040427 group C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 54 BXGD002865 Tooth Crowding C0040433 phenotype C07 Stomatognathic Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 82 BXGD002866 Tooth Diseases C0040435 group C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD002867 Tooth, Supernumerary C0040457 K00.1 phenotype C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 31 BXGD002868 Unerupted tooth C0040458 phenotype C07 Stomatognathic Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 5 BXGD002869 Toothache C0040460 K08.89 phenotype C23;C07 Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Sign or Symptom T184 Sign or Symptom 4 BXGD002870 Torsades de Pointes C0040479 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 51 BXGD002871 Torticollis C0040485 M43.6 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707;HP:0000152;HP:0003011 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculature T184 Sign or Symptom 55 BXGD002872 Gilles de la Tourette syndrome C0040517 F95.2 disease C16;C10;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 177 BXGD002873 Toxoplasmosis C0040558 B58 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 112 BXGD002874 Toxoplasmosis, Animal C0040559 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD002875 Toxoplasmosis, Congenital C0040560 P37.1 disease C16;C01;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 12 BXGD002876 Ocular Toxoplasmosis C0040561 B58.0 disease C01;C11 Infections; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 35 BXGD002877 Tracheal Diseases C0040580 S12.8 group C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 155 BXGD002878 Tracheal Stenosis C0040583 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 30 BXGD002879 Tracheoesophageal Fistula C0040588 disease C23;C06;C08 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases Anatomical Abnormality HP:0025031;HP:0002086 Abnormality of the digestive system; Abnormality of the respiratory system T190 Anatomical Abnormality 80 BXGD002880 Trachoma C0040592 A71.9 disease C01;C11 Infections; Eye Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 39 BXGD002881 Transient Tic Disorder C0040702 F95.0 disease C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 2 BXGD002882 Chromosomal translocation C0040715 phenotype C23 Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 2 BXGD002883 Transposition of Great Vessels C0040761 Q20.3 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 61 BXGD002884 Trematode Infections C0040820 B83.9 group C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 12 BXGD002885 Tremor C0040822 R25.1 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 528 BXGD002886 Saturnine Tremor C0040827 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 9 BXGD002887 Trichinellosis C0040896 B75 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 14 BXGD002888 Trichomonas Infections C0040921 A59.9 group C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 14 BXGD002889 Trichotillomania C0040953 F63.3 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 9 BXGD002890 Infection by Trichuris trichiura C0040954 B79 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 17 BXGD002891 Tricuspid Valve Insufficiency C0040961 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 60 BXGD002892 Tricuspid Valve Prolapse C0040962 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD002893 Tricuspid Valve Stenosis C0040963 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 26 BXGD002894 Trigeminal Neuralgia C0040997 G50.0 disease C10;C07 Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 107 BXGD002895 Trismus C0041105 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T047 Disease or Syndrome 18 BXGD002896 Trophoblastic Neoplasms C0041182 group C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:14566 disease of cellular proliferation T191 Neoplastic Process 22 BXGD002897 Tropical pyomyositis C0041188 M60.0 disease C01;C05;C10 Infections; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD002898 Truncus Arteriosus, Persistent C0041207 Q20.0 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 76 BXGD002899 Trypanosomiasis C0041227 B57.2 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 23 BXGD002900 African Trypanosomiasis C0041228 B56.9 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 55 BXGD002901 Chagas Disease C0041234 B57.2 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 202 BXGD002902 Tuberculoma C0041295 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 8 BXGD002903 Tuberculosis C0041296 A15-A19 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1256 BXGD002904 Tuberculosis, Cutaneous C0041309 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD002905 Tuberculosis, Female Genital C0041311 disease C13;C01 Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD002906 Tuberculosis, Gastrointestinal C0041312 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 6 BXGD002907 Tuberculosis, Laryngeal C0041315 A15.5 disease C01;C08;C09 Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD002908 Lymph Node Tuberculosis C0041316 A18.2 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 33 BXGD002909 Tuberculosis, Meningeal C0041318 A17.0 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 68 BXGD002910 Tuberculosis, Miliary C0041321 A19 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 5 BXGD002911 Tuberculosis, Ocular C0041322 A18.50 disease C01;C11 Infections; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD002912 Tuberculosis, Oral C0041323 disease C01;C07 Infections; Stomatognathic Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 2 BXGD002913 Tuberculosis, Osteoarticular C0041324 A18.0 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 7 BXGD002914 Peritonitis, Tuberculous C0041325 A18.31 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 14 BXGD002915 Pleural Tuberculosis C0041326 A15.6 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 59 BXGD002916 Tuberculosis, Pulmonary C0041327 A15 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 358 BXGD002917 Tuberculosis, Spinal C0041330 A18.01 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 29 BXGD002918 Tuberous Sclerosis C0041341 Q85.1 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 289 BXGD002919 Tubo-ovarian abscess C0041343 N70 disease C23;C13;C01;C19 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Infections; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD002920 Nephritis, Tubulointerstitial C0041349 N16 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 92 BXGD002921 Tularemia C0041351 A21 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 9 BXGD002922 Tumor Lysis Syndrome C0041364 E88.3 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD002923 Turner Syndrome C0041408 Q96.9 disease C16;C13;C12;C19;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 162 BXGD002924 Turner Syndrome, Male C0041409 disease C16;C17;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 11 BXGD002925 Typhoid Fever C0041466 A01.00 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 31 BXGD002926 TYPHUS C0041471 A75.9 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 8 BXGD002927 Ulcer C0041582 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 11 BXGD002928 Uncomplicated alcohol withdrawal C0041651 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD002929 Unconscious State C0041657 R40.20 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 13 BXGD002930 Attention Deficit Disorder C0041671 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 123 BXGD002931 Undifferentiated somatoform disorder C0041672 F45.1 disease C23;F03 Pathological Conditions, Signs and Symptoms; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD002932 Unipolar Depression C0041696 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 641 BXGD002933 Adverse reaction to drug C0041755 T88.7 group C25 Chemically-Induced Disorders Pathologic Function T046 Pathologic Function 87 BXGD002934 Deficiency anemias C0041782 group C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD002935 Erythema C0041834 L53.9 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system T047 Disease or Syndrome 227 BXGD002936 Unspecified idiopathic peripheral neuropathy C0041848 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD002937 Upper Respiratory Infections C0041912 J06.9 group C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 64 BXGD002938 Urachal Cyst C0041915 Q64.4 disease C04 Neoplasms Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 1 BXGD002939 Uremia C0041948 N19 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 110 BXGD002940 Ureterolithiasis C0041952 N20.1 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD002941 Ureteral Neoplasms C0041955 group C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD002942 Ureteral obstruction C0041956 phenotype C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 359 BXGD002943 Ureterocele C0041960 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Acquired Abnormality HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T020 Acquired Abnormality 26 BXGD002944 Urethral Obstruction C0041972 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD002945 Urethral Stenosis C0041974 phenotype C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 41 BXGD002946 Urethritis C0041976 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD002947 Urinary Calculi C0042018 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Body Substance T031 Body Substance 3 BXGD002948 Increased frequency of micturition C0042023 R35.0 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 6 BXGD002949 Urinary Incontinence C0042024 R32 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function HP:0025142;HP:0000119 Constitutional symptom; Abnormality of the genitourinary system T046 Pathologic Function 151 BXGD002950 Urinary Stress Incontinence C0042025 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0025142;HP:0000119 Constitutional symptom; Abnormality of the genitourinary system T047 Disease or Syndrome 79 BXGD002951 Urinary tract infection C0042029 N39.0 group C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 219 BXGD002952 Urination Disorders C0042035 group C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD002953 Urogenital Abnormalities C0042063 group C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 42 BXGD002954 Genitourinary Neoplasms C0042065 group C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm T191 Neoplastic Process 9 BXGD002955 Urologic Diseases C0042075 N39.9 group C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD002956 Urologic Neoplasms C0042076 group C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 28 BXGD002957 Urticaria C0042109 L50 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 168 BXGD002958 Urticaria Pigmentosa C0042111 D47.01 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 10 BXGD002959 Uterine Diseases C0042131 N85.9 group C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD002960 Uterine Fibroids C0042133 D25.9 group C04 Neoplasms Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 569 BXGD002961 Uterine hemorrhage C0042134 phenotype C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function DOID:7 disease of anatomical entity T046 Pathologic Function 3 BXGD002962 Uterine Neoplasms C0042138 group C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 32 BXGD002963 Uterine Prolapse C0042140 N81.4 phenotype C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality HP:0000119;HP:0003549 Abnormality of the genitourinary system; Abnormality of connective tissue T190 Anatomical Abnormality 12 BXGD002964 Uterine Rupture C0042143 phenotype C13;C26 Female Urogenital Diseases and Pregnancy Complications; Wounds and Injuries Pathologic Function HP:0000119 Abnormality of the genitourinary system T046 Pathologic Function 4 BXGD002965 Uveitis C0042164 H20.9 disease C11 Eye Diseases Disease or Syndrome HP:0002715;HP:0000478 Abnormality of the immune system; Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 247 BXGD002966 Anterior uveitis C0042165 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 53 BXGD002967 Uveitis, Intermediate C0042166 disease C11 Eye Diseases Disease or Syndrome HP:0002715;HP:0000478 Abnormality of the immune system; Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD002968 Uveitis, Posterior C0042167 disease C11 Eye Diseases Disease or Syndrome HP:0002715;HP:0000478 Abnormality of the immune system; Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 24 BXGD002969 Uveomeningoencephalitic Syndrome C0042170 H20.82 disease C11;C20;C10 Eye Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 102 BXGD002970 Uveoparotid Fever C0042171 D86.89 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD002971 Malignant Vaginal Neoplasm C0042237 C52 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD002972 Vaginal Diseases C0042251 group C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD002973 Vaginal Neoplasms C0042258 group C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD002974 Vaginitis C0042267 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome HP:0000119;HP:0002715 Abnormality of the genitourinary system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD002975 Varicocele C0042341 I86.1 disease C12;C14 Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 99 BXGD002976 Varicose Ulcer C0042344 disease C17;C14 Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 38 BXGD002977 Varicosity C0042345 I83.90 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 188 BXGD002978 Vascular Diseases C0042373 group C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 688 BXGD002979 Vasculitis C0042384 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 294 BXGD002980 Vasculitis, Hemorrhagic C0042386 phenotype C23;C20;C15;C14 Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD002981 Vasitis C0042392 N49.1 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 1 BXGD002982 Vasovagal syncope C0042420 R55 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 16 BXGD002983 Velopharyngeal Insufficiency C0042454 disease C16;C07;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 27 BXGD002984 Venous Engorgement C0042484 phenotype C14 Cardiovascular Diseases Pathologic Function T046 Pathologic Function 13 BXGD002985 Venous Insufficiency C0042485 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 17 BXGD002986 Venous Thrombosis C0042487 I82.90 phenotype C14 Cardiovascular Diseases Pathologic Function HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T046 Pathologic Function 117 BXGD002987 Ventricular Fibrillation C0042510 I49.01 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 96 BXGD002988 Ventricular Outflow Obstruction C0042512 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD002989 Tachycardia, Ventricular C0042514 I47.2 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 104 BXGD002990 Plantar wart C0042548 B07.0 disease Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 1 BXGD002991 Vertigo C0042571 R42 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom HP:0000598 Abnormality of the ear DOID:7 disease of anatomical entity T184 Sign or Symptom 173 BXGD002992 Vesico-Ureteral Reflux C0042580 N13.70 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 187 BXGD002993 Vesicovaginal Fistula C0042582 N82.0 disease C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 5 BXGD002994 Vestibular Diseases C0042594 H81.9 group C09 Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD002995 Neuralgia, Vidian C0042656 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD002996 Violence C0042693 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 70 BXGD002997 Viral hepatitis C0042721 B19.9 group C06;C01 Digestive System Diseases; Infections Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T047 Disease or Syndrome 79 BXGD002998 Viremia C0042749 B34.9 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 56 BXGD002999 Virus Diseases C0042769 B34.9 group C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 1471 BXGD003000 Visceral Myopathy C0042781 disease C06 Digestive System Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 10 BXGD003001 Visceromegaly C0042782 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0025031 Abnormality of the digestive system T046 Pathologic Function 3 BXGD003002 Vision Disorders C0042790 group C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding T033 Finding 6 BXGD003003 Low Vision C0042798 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 157 BXGD003004 Vital capacity C0042834 phenotype Clinical Attribute T201 Clinical Attribute 430 BXGD003005 Vitamin A Deficiency C0042842 E50.9 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 51 BXGD003006 Vitamin B 12 Deficiency C0042847 E53.8 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 29 BXGD003007 Vitamin B Deficiency C0042850 E53.9 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 1 BXGD003008 Vitamin D Deficiency C0042870 E55.9 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 153 BXGD003009 Vitamin E Deficiency C0042875 E56.0 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 6 BXGD003010 Vitamin K Assay C0042879 phenotype Laboratory Procedure T059 Laboratory Procedure 3 BXGD003011 Vitamin K Deficiency C0042880 E56.1 disease C18;C15 Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667 disease of metabolism T047 Disease or Syndrome 19 BXGD003012 Vitiligo C0042900 L80 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 395 BXGD003013 Vitreous Hemorrhage C0042909 H43.10 phenotype C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function HP:0001871;HP:0000478;HP:0001626 Abnormality of blood and blood-forming tissues; Abnormality of the eye; Abnormality of the cardiovascular system T046 Pathologic Function 12 BXGD003014 Vocal Cord Paralysis C0042928 disease C23;C08;C10;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000707;HP:0001608 Abnormality of the nervous system; Abnormality of the voice T047 Disease or Syndrome 42 BXGD003015 Polyp of vocal cord C0042929 disease C23;C08;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process HP:0002086 Abnormality of the respiratory system T191 Neoplastic Process 9 BXGD003016 Voice Disorders C0042940 group C23;C08;C10;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD003017 Intestinal Volvulus C0042961 K56.2 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 42 BXGD003018 Vomiting C0042963 R11.10 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025031 Abnormality of the digestive system T184 Sign or Symptom 303 BXGD003019 von Willebrand Disease C0042974 D69.8 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 62 BXGD003020 Vulvar Neoplasms C0042995 group C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD003021 Vulvovaginitis C0042998 N76.0 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome HP:0000119;HP:0002715 Abnormality of the genitourinary system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD003022 Wallerian Degeneration C0043020 phenotype C23 Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 21 BXGD003023 Common wart C0043037 B07 disease C04;C01;C17 Neoplasms; Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 48 BXGD003024 Wasting Syndrome C0043046 R64 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 26 BXGD003025 Water Intoxication C0043049 disease C18;C25 Nutritional and Metabolic Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 5 BXGD003026 Weight Gain C0043094 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001507 Growth abnormality T033 Finding 124 BXGD003027 Weil Disease C0043102 A27.0 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 3 BXGD003028 HMN (Hereditary Motor Neuropathy) Proximal Type I C0043116 G12.0 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 34 BXGD003029 Werner Syndrome C0043119 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 130 BXGD003030 Wernicke Encephalopathy C0043121 E51.2 disease C18;C10;C25;F03 Nutritional and Metabolic Diseases; Nervous System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD003031 West Nile Fever C0043124 A92.30 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 79 BXGD003032 Wheezing C0043144 R06.2 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0002086 Abnormality of the respiratory system T184 Sign or Symptom 132 BXGD003033 Dental White Spot C0043154 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 22 BXGD003034 Pertussis C0043167 A37.0 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD003035 Whooping cough due to unspecified organism C0043168 A37 disease C23;C01;C08 Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system T047 Disease or Syndrome 8 BXGD003036 Wiskott-Aldrich Syndrome C0043194 D82.0 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 95 BXGD003037 Wolff-Parkinson-White Syndrome C0043202 I45.6 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7;DOID:225 disease of anatomical entity; syndrome T047 Disease or Syndrome 48 BXGD003038 Wolfram Syndrome C0043207 disease C16;C18;C13;C11;C12;C10;C19;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 28 BXGD003039 Wolman Disease C0043208 E75.5 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 19 BXGD003040 Juvenile Xanthogranuloma C0043324 disease C17;C15 Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 4 BXGD003041 Xanthomatosis C0043325 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 20 BXGD003042 Xeroderma C0043345 E50.8 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD003043 Xeroderma Pigmentosum C0043346 Q82.1 disease C16;C04;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality DOID:630 genetic disease T019 Congenital Abnormality 137 BXGD003044 Xerophthalmia C0043349 H04.12 disease C11 Eye Diseases Disease or Syndrome HP:0002715;HP:0000152;HP:0000478;HP:0001626 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD003045 Xerostomia C0043352 K11.7 disease C07 Stomatognathic Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 56 BXGD003046 Yellow Fever C0043395 A95 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 28 BXGD003047 Yersinia infections C0043407 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 17 BXGD003048 Zellweger Syndrome C0043459 E71.510 disease C16;C06;C18;C13;C12;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 36 BXGD003049 Zollinger-Ellison syndrome C0043515 E16.4 disease C06;C04 Digestive System Diseases; Neoplasms Disease or Syndrome HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:225 syndrome T047 Disease or Syndrome 20 BXGD003050 Zoonoses C0043528 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD003051 Zygomycosis C0043541 B46 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 9 BXGD003052 Accelerated Idioventricular Rhythm C0078888 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD003053 AIDS-Associated Nephropathy C0078911 disease C13;C01;C12;C20 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 45 BXGD003054 Albinism, Ocular C0078917 E70.31 disease C16;C18;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T019 Congenital Abnormality 37 BXGD003055 Albinism, Oculocutaneous C0078918 E70.32 disease C16;C18;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality DOID:630 genetic disease T019 Congenital Abnormality 49 BXGD003056 Albinism, Tyrosinase-Negative C0078921 disease C16;C18;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD003057 Albinism, Tyrosinase-Positive C0078922 disease C16;C18;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD003058 Albinism, Yellow-Mutant C0078923 phenotype C16;C18;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Finding T033 Finding 2 BXGD003059 Arachnoid Cysts C0078981 G93.0 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 31 BXGD003060 Arhinencephaly C0078982 Q04.1 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system DOID:630;DOID:7;DOID:225;DOID:0080015 genetic disease; disease of anatomical entity; syndrome; physical disorder T019 Congenital Abnormality 35 BXGD003061 Bradyarrhythmia (disorder) C0079035 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD003062 Cerebral Thrombosis C0079102 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD003063 Cockayne-Touraine Disease C0079136 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD003064 Hyperkeratosis, Epidermolytic C0079153 Q80.3 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality HP:0001574 Abnormality of the integument DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 20 BXGD003065 Congenital Nonbullous Ichthyosiform Erythroderma C0079154 Q80.2 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 36 BXGD003066 Fibromatosis, Aggressive C0079218 disease C04 Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7 disease of anatomical entity T191 Neoplastic Process 84 BXGD003067 Determination of Death C0079221 phenotype C23 Pathological Conditions, Signs and Symptoms Diagnostic Procedure T060 Diagnostic Procedure 2 BXGD003068 Digestive System Fistula C0079238 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD003069 Epidermolysis Bullosa Acquisita C0079293 L12.30 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 32 BXGD003070 Epidermolysis Bullosa Dystrophica C0079294 Q81.2 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 15 BXGD003071 Epidermolysis Bullosa Herpetiformis Dowling-Meara C0079295 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD003072 Epidermolysis Bullosa Progressiva C0079297 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD003073 Epidermolysis Bullosa Simplex C0079298 Q81.0 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 30 BXGD003074 Epidermolysis Bullosa Simplex Kobner C0079299 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 7 BXGD003075 Junctional Epidermolysis Bullosa C0079301 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 16 BXGD003076 Congenital torticollis C0079352 Q68.0 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Congenital Abnormality HP:0000152;HP:0003011 Abnormality of head or neck; Abnormality of the musculature T019 Congenital Abnormality 19 BXGD003077 Hallopeau-Siemens Disease C0079474 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 51 BXGD003078 Heart Valve Prolapse C0079485 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD003079 Helicobacter Infections C0079487 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 18 BXGD003080 Hermanski-Pudlak Syndrome C0079504 E70.331 disease C16;C18;C11;C17;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 70 BXGD003081 Holoprosencephaly C0079541 Q04.2 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system DOID:630;DOID:7;DOID:225;DOID:0080015 genetic disease; disease of anatomical entity; syndrome; physical disorder T019 Congenital Abnormality 109 BXGD003082 Ichthyosiform Erythroderma, Congenital C0079583 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 31 BXGD003083 Ichthyosis Vulgaris C0079584 Q80.0 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 10 BXGD003084 Ichthyosis, X-Linked C0079588 Q80.1 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 199 BXGD003085 Lentivirus Infections C0079680 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 88 BXGD003086 Herlitz Disease C0079683 Q81.1 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD003087 B-Cell Lymphomas C0079731 group C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process HP:0002664;HP:0001871 Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1408 BXGD003088 High Grade Lymphoma (neoplasm) C0079740 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 62 BXGD003089 Lymphoma, Intermediate-Grade C0079741 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 24 BXGD003090 Diffuse Large B-Cell Lymphoma C0079744 C83.3 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1043 BXGD003091 Lymphoma, Large-Cell, Follicular C0079745 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 153 BXGD003092 Immunoblastic Large-Cell Lymphoma C0079746 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 28 BXGD003093 Low Grade Lymphoma (neoplasm) C0079747 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 39 BXGD003094 Precursor cell lymphoblastic lymphoma C0079748 C83.5 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 88 BXGD003095 Diffuse Mixed-Cell Lymphoma C0079757 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 21 BXGD003096 Lymphoma, Mixed-Cell, Follicular C0079758 C82.1 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 15 BXGD003097 Lymphoma, Small Cleaved-Cell, Follicular C0079765 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 21 BXGD003098 Lymphoma, Small Noncleaved-Cell C0079770 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 32 BXGD003099 T-Cell Lymphoma C0079772 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process HP:0002664;HP:0001871 Neoplasm; Abnormality of blood and blood-forming tissues T191 Neoplastic Process 485 BXGD003100 Lymphoma, T-Cell, Cutaneous C0079773 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process HP:0002664;HP:0001871 Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 367 BXGD003101 Peripheral T-Cell Lymphoma C0079774 C84.9 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 190 BXGD003102 Milk Allergy C0079840 phenotype C20 Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD003103 Oligohydramnios C0079924 O41.0 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Pathologic Function HP:0001197 Abnormality of prenatal development or birth DOID:7 disease of anatomical entity T046 Pathologic Function 129 BXGD003104 Piebaldism C0080024 E70.39 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality HP:0001574 Abnormality of the integument DOID:630 genetic disease T019 Congenital Abnormality 33 BXGD003105 Pleural Effusion, Malignant C0080032 J91.0 disease C04;C08 Neoplasms; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 119 BXGD003106 Spina Bifida Occulta C0080174 Q76.0 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system DOID:0080015 physical disorder T019 Congenital Abnormality 76 BXGD003107 Spina Bifida C0080178 Q05.9 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T019 Congenital Abnormality 179 BXGD003108 Tachyarrhythmia C0080203 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding T033 Finding 18 BXGD003109 Tethered Cord Syndrome C0080218 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 41 BXGD003110 Tooth Loss C0080233 disease C07 Stomatognathic Diseases Acquired Abnormality T020 Acquired Abnormality 49 BXGD003111 Urinary Retention C0080274 R33.9 phenotype C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 17 BXGD003112 Disorder of the genitourinary system C0080276 N00-N99 group C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 5 BXGD003113 Left Ventricular Function C0080310 phenotype Organ or Tissue Function T042 Organ or Tissue Function 1 BXGD003114 Weber-Cockayne Syndrome C0080333 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD003115 Smear Layer C0085070 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD003116 Granuloma Annulare C0085074 L92.0 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD003117 Sweet Syndrome C0085077 L98.2 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 104 BXGD003118 Lysosomal Storage Diseases C0085078 group C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 130 BXGD003119 Fungemia C0085082 B49 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 7 BXGD003120 Ovarian Hyperstimulation Syndrome C0085083 disease C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 64 BXGD003121 Motor Neuron Disease C0085084 G12.2 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 186 BXGD003122 Lymphoma, AIDS-Related C0085090 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 37 BXGD003123 Peripheral Vascular Diseases C0085096 I73.9 group C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 150 BXGD003124 Familial benign pemphigus C0085106 Q82.8 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 36 BXGD003125 Corneal Neovascularization C0085109 H16.4 disease C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 117 BXGD003126 Severe Combined Immunodeficiency C0085110 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome HP:0002715 Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 284 BXGD003127 Foot Ulcer C0085119 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 25 BXGD003128 Bronchial Hyperreactivity C0085129 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 112 BXGD003129 Gangliosidosis GM1 C0085131 E75.19 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 14 BXGD003130 Mucopolysaccharidosis VII C0085132 E76.29 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD003131 Central Nervous System Neoplasms C0085136 group C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 180 BXGD003132 Choroid Plexus Neoplasms C0085138 group C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 19 BXGD003133 Seasonal Affective Disorder C0085159 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 57 BXGD003134 Hidradenitis C0085160 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003135 Leukemia, Feline C0085164 disease C04;C01;C22 Neoplasms; Infections; Animal Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD003136 Bacterial Vaginosis C0085166 disease C13;C01 Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 73 BXGD003137 Granular cell tumor C0085167 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 19 BXGD003138 Eosinophilia-Myalgia Syndrome C0085179 disease C05;C10;C15 Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD003139 Neoplasms, Second Primary C0085183 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 44 BXGD003140 Gestational Diabetes C0085207 O24.4 phenotype C18;C13;C19 Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome HP:0001939;HP:0001197;HP:0000818 Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth; Abnormality of the endocrine system DOID:0014667 disease of metabolism T047 Disease or Syndrome 649 BXGD003141 Ovarian Failure, Premature C0085215 E28.3 disease C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 333 BXGD003142 Cerebral Amyloid Angiopathy C0085220 I68.0 disease C18;C10;C14 Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 65 BXGD003143 Zenker Diverticulum C0085232 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD003144 Adult-Onset Still Disease C0085253 M06.1 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 76 BXGD003145 Proteus Syndrome C0085261 disease C16;C04;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:225 syndrome T191 Neoplastic Process 17 BXGD003146 Plasma Cell Granuloma, Pulmonary C0085269 disease C08 Respiratory Tract Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 2 BXGD003147 Orbital Pseudotumor C0085270 H05.11 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD003148 Self-Injurious Behavior C0085271 phenotype F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 91 BXGD003149 Erythema Infectiosum C0085273 B08.3 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 14 BXGD003150 Antiphospholipid Syndrome C0085278 D68.61 disease C20 Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 99 BXGD003151 Alagille Syndrome C0085280 Q44.7 disease C16;C06;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 38 BXGD003152 Addictive Behavior C0085281 phenotype F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 332 BXGD003153 Stiff-Person Syndrome C0085292 G25.82 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 34 BXGD003154 Hepatitis E C0085293 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 72 BXGD003155 Sudden Cardiac Death C0085298 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function HP:0001626 Abnormality of the cardiovascular system T046 Pathologic Function 133 BXGD003156 Embolism and Thrombosis C0085307 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 1 BXGD003157 Diffuse cutaneous leishmaniasis C0085311 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 22 BXGD003158 Toxoplasmosis, Cerebral C0085315 B58.2 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 23 BXGD003159 Intracranial Tuberculoma C0085388 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 1 BXGD003160 Li-Fraumeni Syndrome C0085390 disease C16;C04;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 76 BXGD003161 Ureaplasma Infections C0085395 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 12 BXGD003162 Neisseriaceae Infections C0085396 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD003163 Pasteurellaceae Infections C0085397 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD003164 Ehrlichiosis C0085399 A77.40 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 21 BXGD003165 Neurofibrillary degeneration (morphologic abnormality) C0085400 phenotype Cell or Molecular Dysfunction HP:0000707 Abnormality of the nervous system T049 Cell or Molecular Dysfunction 21 BXGD003166 POEMS Syndrome C0085404 disease C16;C20;C10;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 26 BXGD003167 Microsporidiosis C0085407 B60.8 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 4 BXGD003168 Polyendocrinopathies, Autoimmune C0085409 E31.0 group C20;C19 Immune System Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 166 BXGD003169 Angiodysplasia C0085411 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD003170 Encephalitozoonosis C0085412 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 3 BXGD003171 Polycystic Kidney, Autosomal Dominant C0085413 Q61.2 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 280 BXGD003172 Epilepsy, Complex Partial C0085417 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD003173 Gram-Negative Bacterial Infections C0085423 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 24 BXGD003174 Gram-Positive Bacterial Infections C0085426 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 17 BXGD003175 Angiomatosis, Bacillary C0085434 disease C01;C17;C14 Infections; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 2 BXGD003176 Arthritis, Reactive C0085435 M02.3 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 63 BXGD003177 Meningitis, Cryptococcal C0085436 B45.1 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 31 BXGD003178 Meningitis, Bacterial C0085437 G00.9 group C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 81 BXGD003179 Meningitis, Fungal C0085438 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003180 Epilepsy, Frontal Lobe C0085541 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD003181 Epilepsia Partialis Continua C0085543 G40.1 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 15 BXGD003182 Phenylketonuria, Maternal C0085547 disease C16;C18;C13;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 6 BXGD003183 Autosomal Recessive Polycystic Kidney Disease C0085548 Q61.1 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 69 BXGD003184 Buruli Ulcer C0085568 A31.1 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 13 BXGD003185 Metabolic acidosis, NAG, acidifying salts C0085569 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 2 BXGD003186 Hypokalemic alkalosis C0085570 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 10 BXGD003187 Palindromic rheumatism C0085574 M12.3 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 14 BXGD003188 Iron-Refractory Iron Deficiency Anemia C0085576 disease C18;C15 Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 51 BXGD003189 Normocytic anemia C0085577 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD003190 Thalassemia Minor C0085578 D56.3 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD003191 Essential Hypertension C0085580 I10 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 445 BXGD003192 Restrictive lung disease C0085581 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system T047 Disease or Syndrome 13 BXGD003193 Retrobulbar Neuritis C0085582 H46.1 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0002715;HP:0000478 Abnormality of the immune system; Abnormality of the eye T047 Disease or Syndrome 18 BXGD003194 Choreoathetosis C0085583 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 94 BXGD003195 Encephalopathies C0085584 G93.40 group C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 457 BXGD003196 Chills C0085593 R68.83 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 34 BXGD003197 Fever with chills C0085594 R50.9 phenotype C23;C01 Pathological Conditions, Signs and Symptoms; Infections Sign or Symptom T184 Sign or Symptom 2 BXGD003198 Body odor C0085595 phenotype Finding HP:0025142 Constitutional symptom T033 Finding 2 BXGD003199 Polydipsia C0085602 R63.1 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 61 BXGD003200 Liver Failure C0085605 K72.9 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 293 BXGD003201 Urgency of micturition C0085606 R39.15 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom HP:0000119 Abnormality of the genitourinary system T184 Sign or Symptom 40 BXGD003202 Sinus bradycardia C0085610 R00.1 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function HP:0001626 Abnormality of the cardiovascular system T046 Pathologic Function 22 BXGD003203 Atrial arrhythmia C0085611 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function HP:0001626 Abnormality of the cardiovascular system T046 Pathologic Function 3 BXGD003204 Ventricular arrhythmia C0085612 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 176 BXGD003205 First degree atrioventricular block C0085614 I44.0 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 26 BXGD003206 Right bundle branch block C0085615 I45.0 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 39 BXGD003207 Orthopnea C0085619 R06.01 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding HP:0002086 Abnormality of the respiratory system T033 Finding 13 BXGD003208 Flaccid paralysis C0085620 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 4 BXGD003209 Monoplegia C0085622 G83.3 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD003210 Akinesia C0085623 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 43 BXGD003211 Burning sensation C0085624 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 30 BXGD003212 Hypoalgesia C0085625 phenotype C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Sign or Symptom T184 Sign or Symptom 23 BXGD003213 Stupor C0085628 R40.1 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD003214 Agitation C0085631 phenotype C10;F03;F01 Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 109 BXGD003215 Apathy C0085632 phenotype F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 83 BXGD003216 Mood swings C0085633 R45.86 disease C10;F03;F01 Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 171 BXGD003217 Photopsia C0085635 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 35 BXGD003218 Photophobia C0085636 H53.14 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom HP:0000707;HP:0000478 Abnormality of the nervous system; Abnormality of the eye T184 Sign or Symptom 227 BXGD003219 Oculogyric crisis C0085637 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 9 BXGD003220 Livedo Reticularis C0085642 disease C23;C17;C14 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD003221 Synovial Cyst C0085648 M71.3 disease C04 Neoplasms Disease or Syndrome T047 Disease or Syndrome 87 BXGD003222 Peripheral edema C0085649 phenotype C23;C18;C14 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Cardiovascular Diseases Pathologic Function HP:0001939 Abnormality of metabolism/homeostasis T046 Pathologic Function 3 BXGD003223 Purpura Fulminans C0085650 D65 disease C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD003224 Pyoderma Gangrenosum C0085652 L88 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 47 BXGD003225 Pyogenic granuloma C0085653 K13.4 disease C23 Pathological Conditions, Signs and Symptoms Neoplastic Process T191 Neoplastic Process 13 BXGD003226 Polymyositis C0085655 M33.2 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 183 BXGD003227 Erythema marginatum C0085659 L53.2 disease C23;C16;C01;C17 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD003228 Aseptic necrosis C0085660 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T046 Pathologic Function 41 BXGD003229 Onycholysis C0085661 L60.1 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 15 BXGD003230 Macrocytosis C0085662 disease Disease or Syndrome T047 Disease or Syndrome 13 BXGD003231 Plasmacytosis C0085663 D72.822 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Disease or Syndrome T047 Disease or Syndrome 15 BXGD003232 Secondary carcinoma C0085668 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD003233 Acute leukemia C0085669 C95.00 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 639 BXGD003234 Alcoholic Neuropathy C0085677 G62.1 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD003235 Hyperchloremia C0085679 E87.8 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 12 BXGD003236 Hypochloremia (disorder) C0085680 E87.8 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 7 BXGD003237 Hyperphosphatemia (disorder) C0085681 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667 disease of metabolism T047 Disease or Syndrome 65 BXGD003238 Hypophosphatemia C0085682 phenotype C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667 disease of metabolism T047 Disease or Syndrome 69 BXGD003239 Foot Drop C0085684 disease C10 Nervous System Diseases Disease or Syndrome HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T047 Disease or Syndrome 3 BXGD003240 Hemorrhagic cystitis C0085692 disease C23;C13;C01;C12;C15 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD003241 Acute appendicitis NOS (disorder) C0085693 K35 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 43 BXGD003242 Chronic cholecystitis C0085694 K81.1 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD003243 Chronic gastritis C0085695 K29.5 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 114 BXGD003244 Chronic prostatitis C0085696 N41.1 disease C12 Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD003245 Chronic pyelonephritis C0085697 N11.9 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003246 Chondromalacia C0085700 M94.2 disease C17;C05 Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD003247 Monocytosis C0085702 disease C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 61 BXGD003248 Mendelson Syndrome C0085740 J95.4 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD003249 Adenosis of Breast C0085750 disease C17 Skin and Connective Tissue Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 26 BXGD003250 Aganglionosis, Colonic C0085758 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality HP:0025031;HP:0000707 Abnormality of the digestive system; Abnormality of the nervous system DOID:7 disease of anatomical entity T019 Congenital Abnormality 36 BXGD003251 Alcohol abuse C0085762 F10.1 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 156 BXGD003252 Hamman-Rich syndrome C0085786 J84.114 disease C23;C01;C08 Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 55 BXGD003253 Aneurysm, Mycotic C0085808 disease C01;C14 Infections; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD003254 Polyglandular Type I Autoimmune Syndrome C0085859 disease C20;C19 Immune System Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 64 BXGD003255 Autoimmune Syndrome Type II, Polyglandular C0085860 E31.0 disease C20;C19 Immune System Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 14 BXGD003256 Brachial Neuralgia C0085920 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD003257 soft neurological signs C0085923 phenotype Sign or Symptom T184 Sign or Symptom 15 BXGD003258 Bullous Dermatitis C0085932 L10-L14 group C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD003259 Infections, Bunyavirus C0085933 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD003260 Child Development Deviations C0085996 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 29 BXGD003261 Child Development Disorders, Specific C0085997 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 30 BXGD003262 Codependency C0086025 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 20 BXGD003263 Decayed, Missing, and Filled Teeth C0086103 disease Acquired Abnormality T020 Acquired Abnormality 6 BXGD003264 Depressive Symptoms C0086132 phenotype F01 Behavior and Behavior Mechanisms Sign or Symptom T184 Sign or Symptom 421 BXGD003265 Depressive Syndrome C0086133 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 45 BXGD003266 Dissociation C0086168 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD003267 Intravenous Drug Abuse C0086181 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD003268 Drug Withdrawal Symptoms C0086189 phenotype C25;F03 Chemically-Induced Disorders; Mental Disorders Sign or Symptom T184 Sign or Symptom 58 BXGD003269 Eczema, Infantile C0086196 disease C16;C17;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 36 BXGD003270 Emotional Stress C0086209 phenotype F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 25 BXGD003271 Enterobiasis C0086227 B80 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 2 BXGD003272 Epilepsy, Atonic C0086236 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD003273 Epilepsy, Cryptogenic C0086237 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 88 BXGD003274 Secondary generalized epilepsy C0086238 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD003275 Epilepsy, Tonic C0086241 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD003276 Gonadotropin-Resistant Ovary Syndrome C0086367 E28.39 disease C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD003277 Hearing Loss, Extreme C0086395 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom T184 Sign or Symptom 20 BXGD003278 Experimental Hepatoma C0086404 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process; Experimental Model of Disease T191;T050 Neoplastic Process; Experimental Model of Disease 117 BXGD003279 Hereditary Sensory Radicular Neuropathy C0086405 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD003280 Hurler-Scheie Syndrome C0086431 E76.02 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD003281 Hyalinosis, Segmental Glomerular C0086432 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 28 BXGD003282 Joint laxity C0086437 phenotype C05 Musculoskeletal Diseases Pathologic Function HP:0000924 Abnormality of the skeletal system T046 Pathologic Function 224 BXGD003283 Hypogammaglobulinemia C0086438 D80.1 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype DOID:7 disease of anatomical entity T047 Disease or Syndrome 76 BXGD003284 Hypokinesia C0086439 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 47 BXGD003285 Idiopathic Membranous Glomerulonephritis C0086445 disease C13;C12;C20 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 79 BXGD003286 Ileal Pouches C0086447 disease Acquired Abnormality T020 Acquired Abnormality 13 BXGD003287 Ileoanal Pouches C0086448 disease Acquired Abnormality T020 Acquired Abnormality 2 BXGD003288 Industrial Dermatosis C0086457 disease C17;C24 Skin and Connective Tissue Diseases; Occupational Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD003289 J-Pouch C0086492 disease Acquired Abnormality T020 Acquired Abnormality 1 BXGD003290 Keratoma C0086501 disease C17 Skin and Connective Tissue Diseases Acquired Abnormality T020 Acquired Abnormality 5 BXGD003291 Leiomyoma, Epithelioid C0086533 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD003292 Leishmaniasis, New World C0086540 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD003293 Urban cutaneous leishmaniasis C0086541 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD003294 Cataract C0086543 H26.9 disease C11 Eye Diseases Acquired Abnormality HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T020 Acquired Abnormality 878 BXGD003295 Liver Dysfunction C0086565 phenotype C06 Digestive System Diseases Finding HP:0025031 Abnormality of the digestive system T033 Finding 73 BXGD003296 Marasmus C0086588 E41 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 3 BXGD003297 Minamata Disease C0086626 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 2 BXGD003298 Mucopolysaccharidosis Type IIIA C0086647 E76.22 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 25 BXGD003299 MPS III B C0086648 E76.22 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 13 BXGD003300 MPS III C C0086649 E76.22 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 6 BXGD003301 MPS III D C0086650 E76.22 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD003302 Mucopolysaccharidosis, MPS-IV-A C0086651 E76.210 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 19 BXGD003303 Mucopolysaccharidosis type IVB C0086652 E76.211 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD003304 Myelocele C0086664 Q05 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T019 Congenital Abnormality 5 BXGD003305 Myocardial Preinfarction Syndrome C0086666 I20.0 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD003306 Benign Neoplasm C0086692 D36.9 group C04 Neoplasms Neoplastic Process T191 Neoplastic Process 371 BXGD003307 Neoplasms, Therapy-Associated C0086696 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD003308 Osteoarthrosis Deformans C0086743 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 96 BXGD003309 Pancreatic Cholera C0086768 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 9 BXGD003310 Panic Attacks C0086769 F41.0 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 59 BXGD003311 Pfaundler-Hurler Syndrome C0086795 E76.01 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 36 BXGD003312 Plantar Ulcer C0086815 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD003313 Pseudopelade C0086873 L66.0 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 23 BXGD003314 Rheumatoid Purpura C0086922 phenotype C23;C20;C15;C14 Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD003315 Rous Sarcoma C0086942 disease C04;C01;C22 Neoplasms; Infections; Animal Diseases Neoplastic Process; Experimental Model of Disease T191;T050 Neoplastic Process; Experimental Model of Disease 60 BXGD003316 Hemorrhagic Septicemia C0086973 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD003317 Sicca Syndrome C0086981 M35.00 disease C11;C17;C05;C20;C07 Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 132 BXGD003318 Ataxia, Spinocerebellar C0087012 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 156 BXGD003319 Juvenile-Onset Still Disease C0087031 M08.2 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 171 BXGD003320 Thrombus C0087086 phenotype C14 Cardiovascular Diseases Pathologic Function T046 Pathologic Function 46 BXGD003321 Withdrawal Symptoms C0087169 phenotype C25;F03 Chemically-Induced Disorders; Mental Disorders Sign or Symptom T184 Sign or Symptom 126 BXGD003322 Encephalopathy, Toxic C0149504 G92 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 29 BXGD003323 Acute bronchitis C0149514 J20.9 disease C23;C01;C08 Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD003324 Chronic sinusitis C0149516 J32.9 disease C01;C08;C09 Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0002715;HP:0000152;HP:0000924 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the skeletal system T047 Disease or Syndrome 205 BXGD003325 Chronic tonsillitis C0149517 J35.01 disease C01;C08;C07;C09 Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD003326 Chronic Persistent Hepatitis C0149519 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 33 BXGD003327 Acute Cholecystitis C0149520 K81.0 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 21 BXGD003328 Pancreatitis, Chronic C0149521 K86.1 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T047 Disease or Syndrome 379 BXGD003329 Acute cystitis C0149523 N30.0 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD003330 Congenital heart block C0149530 Q24.6 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality DOID:7 disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 20 BXGD003331 Acute mastitis C0149613 disease C13;C17 Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD003332 Adnexal mass C0149614 disease C13 Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality T190 Anatomical Abnormality 5 BXGD003333 Neurogenic Urinary Bladder, Atonic C0149622 phenotype C23;C13;C12;C10 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD003334 Bicuspid aortic valve C0149630 Q23.1 disease C14 Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T019 Congenital Abnormality 154 BXGD003335 Abnormality of the bladder C0149632 phenotype C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 9 BXGD003336 Lip Carcinoma C0149637 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD003337 Cecum Carcinoma C0149640 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD003338 Cervical lymphadenitis C0149642 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD003339 Cervical myelopathy C0149645 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 12 BXGD003340 Cholesterol Embolism C0149649 I75 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD003341 Chronic mastitis C0149650 disease C04;C13;C17 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD003342 Clubbing C0149651 phenotype Sign or Symptom HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T184 Sign or Symptom 32 BXGD003343 Conduct Disorder C0149654 F91 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 34 BXGD003344 Deformity of toe C0149662 disease C05 Musculoskeletal Diseases Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD003345 Disorder of carbohydrate metabolism C0149670 E74.9 group C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD003346 Epstein-Barr Virus Infections C0149678 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 384 BXGD003347 Food intolerance (disorder) C0149696 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 8 BXGD003348 Gingivostomatitis C0149704 disease C06;C01;C07 Digestive System Diseases; Infections; Stomatognathic Diseases Disease or Syndrome HP:0002715;HP:0000152 Abnormality of the immune system; Abnormality of head or neck T047 Disease or Syndrome 1 BXGD003349 Left Ventricular Hypertrophy C0149721 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 403 BXGD003350 Hutchinson's Melanotic Freckle C0149722 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD003351 Lower respiratory tract infection C0149725 group C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome HP:0002715;HP:0002086 Abnormality of the immune system; Abnormality of the respiratory system T047 Disease or Syndrome 63 BXGD003352 Abnormality of the lymph nodes C0149727 phenotype Finding HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system T033 Finding 3 BXGD003353 neurological pain C0149738 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 2 BXGD003354 nipple discharge C0149741 N64.52 phenotype Sign or Symptom T184 Sign or Symptom 7 BXGD003355 Oral lesion C0149744 phenotype C06;C07 Digestive System Diseases; Stomatognathic Diseases Finding HP:0002664;HP:0000152 Neoplasm; Abnormality of head or neck T033 Finding 5 BXGD003356 Oral Ulcer C0149745 disease C07 Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 104 BXGD003357 Orthostasis C0149746 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 5 BXGD003358 Fasciitis, Plantar C0149756 M72.2 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD003359 Rectal abscess C0149770 K61.1 phenotype C23;C06;C01 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Pathologic Function HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T046 Pathologic Function 9 BXGD003360 Abnormal salivary gland morphology C0149772 phenotype C07 Stomatognathic Diseases Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 5 BXGD003361 Abscess of skin AND/OR subcutaneous tissue C0149777 phenotype C23;C01;C17 Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases Pathologic Function HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T046 Pathologic Function 2 BXGD003362 Soft Tissue Infection C0149778 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 38 BXGD003363 Somatization C0149779 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 21 BXGD003364 Spontaneous pneumothorax C0149781 J93.83 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system T047 Disease or Syndrome 30 BXGD003365 Squamous cell carcinoma of lung C0149782 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process HP:0002664;HP:0002086 Neoplasm; Abnormality of the respiratory system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 670 BXGD003366 Amaurosis Fugax C0149793 G45.3 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom HP:0000478 Abnormality of the eye T184 Sign or Symptom 49 BXGD003367 Sepsis due to urinary tract infection C0149801 disease C23;C13;C01;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD003368 ACUTE ALCOHOL WITHDRAWAL C0149821 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD003369 Hypertrophy of adenoids C0149825 J35.2 disease C07;C09 Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0002715;HP:0000152;HP:0001626 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD003370 Gastric adenoma C0149826 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 26 BXGD003371 Senile Tremor C0149840 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 9 BXGD003372 Benign recurrent intrahepatic cholestasis C0149841 disease C16;C06;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD003373 Cerebellar hemorrhage C0149854 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function HP:0000707;HP:0001871;HP:0001626 Abnormality of the nervous system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T046 Pathologic Function 2 BXGD003374 De Quervain Disease C0149870 M65.4 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD003375 Deep Vein Thrombosis C0149871 I82.40 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 230 BXGD003376 Primary dysmenorrhea C0149875 N94.4 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 13 BXGD003377 Hypoglycemic encephalopathy C0149877 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 1 BXGD003378 Epididymo-orchitis C0149881 N45.3 disease C12;C19 Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003379 Seizure, Febrile, Simple C0149886 R56.00 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 13 BXGD003380 Slipped Capital Femoral Epiphyses C0149887 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T047 Disease or Syndrome 15 BXGD003381 Secondary glaucoma C0149893 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 21 BXGD003382 Primary gout C0149896 M10.0 disease C23;C16;C18;C05 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 40 BXGD003383 Cholestatic hepatitis C0149904 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD003384 Intermittent joint effusion C0149910 M12.4 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 2 BXGD003385 Humoral hypercalcemia of malignancy (disorder) C0149911 disease C04;C18 Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 26 BXGD003386 Lichen Simplex Chronicus C0149922 L28.0 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD003387 Small cell carcinoma of lung C0149925 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process HP:0002664;HP:0002086 Neoplasm; Abnormality of the respiratory system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 972 BXGD003388 Migraine Disorders C0149931 G43.9 group C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 512 BXGD003389 Acute interstitial nephritis C0149937 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD003390 Obstructive nephropathy C0149939 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 95 BXGD003391 Sciatic Neuropathy C0149940 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 115 BXGD003392 Ovarian Fibromata C0149951 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm T191 Neoplastic Process 6 BXGD003393 Torsion of ovary C0149952 disease C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Anatomical Abnormality T190 Anatomical Abnormality 4 BXGD003394 Annular pancreas C0149955 Q45.1 disease C06 Digestive System Diseases Congenital Abnormality HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T019 Congenital Abnormality 19 BXGD003395 Complex partial seizures C0149958 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 140 BXGD003396 Acute pelvic inflammatory disease C0149959 group C13;C01 Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD003397 Adenocarcinoma of rectum C0149978 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 103 BXGD003398 Lumbar spondylosis C0149983 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD003399 Syphilis, secondary C0149985 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 7 BXGD003400 Urge Incontinence C0150045 N39.41 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding T033 Finding 5 BXGD003401 Chronic pain C0150055 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 207 BXGD003402 Social Communication Disorder C0150080 F80.82 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 40 BXGD003403 muscle pain or weakness C0150841 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD003404 Sclerodactyly C0150988 L94.3 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 8 BXGD003405 Pitting of nails C0150993 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 8 BXGD003406 Periorbital edema C0151205 phenotype C23;C18;C11;C17;C20;C14 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function HP:0001939;HP:0000152 Abnormality of metabolism/homeostasis; Abnormality of head or neck T046 Pathologic Function 22 BXGD003407 Conduction system abnormalities C0151236 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD003408 Atrial myxoma C0151241 disease C04;C14 Neoplasms; Cardiovascular Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD003409 Genital ulcers C0151281 disease Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 15 BXGD003410 Chronic Headache C0151293 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD003411 Mononeuritis Multiplex C0151295 G58.7 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD003412 Cranial nerve palsies C0151311 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 81 BXGD003413 Sensory neuropathy C0151313 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 116 BXGD003414 Neck stiffness C0151315 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T184 Sign or Symptom 5 BXGD003415 Active tuberculosis C0151332 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 116 BXGD003416 Rheumatoid factor positive (finding) C0151379 phenotype Laboratory or Test Result HP:0002715 Abnormality of the immune system T034 Laboratory or Test Result 7 BXGD003417 Vasculitis, Leukocytoclastic, Cutaneous C0151436 M31.0 disease C20;C14 Immune System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD003418 Primary Raynaud Phenomenon C0151445 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD003419 Primary Sjogren's syndrome C0151449 disease C11;C17;C05;C20;C07 Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 312 BXGD003420 Secondary Sjogren's syndrome C0151450 disease C11;C17;C05;C20;C07 Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD003421 Abscess of breast C0151463 disease C23;C01;C17;C08 Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD003422 Renal abscess C0151465 disease C23;C13;C01;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Acquired Abnormality T020 Acquired Abnormality 2 BXGD003423 Addisonian crisis C0151467 E27.2 disease C23;C19 Pathological Conditions, Signs and Symptoms; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD003424 Thyroid Gland Follicular Adenoma C0151468 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0002664 Abnormality of the endocrine system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 202 BXGD003425 Hypochloremic alkalosis C0151476 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD003426 Anti-nuclear factor positive C0151480 phenotype C17 Skin and Connective Tissue Diseases Laboratory or Test Result HP:0002715 Abnormality of the immune system T034 Laboratory or Test Result 35 BXGD003427 Arterial malformation C0151489 phenotype C16;C13 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 3 BXGD003428 Congenital musculoskeletal anomalies C0151491 Q65-Q79 group C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 14 BXGD003429 Atrophic condition of skin C0151514 L90 group C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 111 BXGD003430 Thyroid Hypoplasia C0151516 disease C16;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 14 BXGD003431 Complete atrioventricular block C0151517 I44.2 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 403 BXGD003432 Premature Birth C0151526 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Pathologic Function HP:0001197 Abnormality of prenatal development or birth T046 Pathologic Function 192 BXGD003433 Prolonged bleeding time C0151529 R79.1 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 39 BXGD003434 Stenosis of bronchus C0151536 J98.09 disease C08 Respiratory Tract Diseases Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD003435 Blood urea increased C0151539 phenotype C23;C18;C13;C12 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 12 BXGD003436 Gastrointestinal carcinoma C0151544 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T191 Neoplastic Process 26 BXGD003437 Oral Cavity Carcinoma C0151546 disease C06;C04;C07 Digestive System Diseases; Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 167 BXGD003438 Central nervous system depression (disorder) C0151559 disease C10;F01 Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 6 BXGD003439 Prolonged whole-blood clotting time C0151563 R79.1 phenotype C15 Hemic and Lymphatic Diseases Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 4 BXGD003440 Cogwheel Rigidity C0151564 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 24 BXGD003441 Hemorrhagic colitis C0151565 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD003442 Reflex, Corneal, Decreased C0151572 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 14 BXGD003443 Abnormality of the cerebrospinal fluid C0151583 R83 phenotype C10 Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD003444 Hemorrhagic diarrhea C0151594 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 16 BXGD003445 Anasarca C0151603 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0001939 Abnormality of metabolism/homeostasis T046 Pathologic Function 41 BXGD003446 Edema of the tongue C0151610 phenotype C23;C06;C17;C20;C10;C07;C14 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Stomatognathic Diseases; Cardiovascular Diseases Pathologic Function HP:0001939;HP:0000152 Abnormality of metabolism/homeostasis; Abnormality of head or neck T046 Pathologic Function 1 BXGD003447 Electroencephalogram abnormal C0151611 R94.01 phenotype C10 Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 227 BXGD003448 Hypertensive Encephalopathy C0151620 I67.4 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD003449 Necrolysis epidermal C0151626 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD003450 ESR raised C0151632 R70.0 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 36 BXGD003451 Premature ventricular contractions C0151636 I49.3 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 56 BXGD003452 Decreased fertility in females C0151639 phenotype C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 23 BXGD003453 Decreased fertility in males C0151640 phenotype C12 Male Urogenital Diseases Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 30 BXGD003454 Renal fibrosis C0151650 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 570 BXGD003455 Fibrosis of mesentery C0151653 phenotype C23;C06;C17 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD003456 Gastrointestinal perforation C0151664 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD003457 Increased antibody level in blood C0151669 phenotype Finding HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T033 Finding 27 BXGD003458 Neutrophilia (finding) C0151683 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 6 BXGD003459 Growth retardation C0151686 phenotype C18;F03 Nutritional and Metabolic Diseases; Mental Disorders Pathologic Function HP:0001507 Growth abnormality T046 Pathologic Function 1 BXGD003460 Decreased HDL cholesterol concentration C0151691 phenotype C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 12 BXGD003461 Intracranial Hemorrhage C0151699 group C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function HP:0000707;HP:0001871;HP:0001626 Abnormality of the nervous system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T046 Pathologic Function 40 BXGD003462 Pulmonary hemorrhage C0151701 R04.89 phenotype C23;C08;C15 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Pathologic Function HP:0001871;HP:0002086;HP:0001626 Abnormality of blood and blood-forming tissues; Abnormality of the respiratory system; Abnormality of the cardiovascular system T046 Pathologic Function 5 BXGD003463 Hypermagnesemia C0151714 E83.41 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 10 BXGD003464 Hypocholesterolemia C0151718 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 113 BXGD003465 Testicular hypogonadism C0151721 E29.1 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000119;HP:0000818 Abnormality of the genitourinary system; Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 50 BXGD003466 Hypomagnesemia C0151723 E83.42 phenotype C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 58 BXGD003467 Hepatic infarction C0151731 K76.3 disease C06;C14 Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003468 Intracranial Hypertension C0151740 disease C10 Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T033 Finding 72 BXGD003469 Myocardial Ischemia C0151744 I20-I25 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 756 BXGD003470 Abnormal renal function C0151746 phenotype C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function HP:0000119 Abnormality of the genitourinary system T046 Pathologic Function 12 BXGD003471 Renal tubular disorder C0151747 N25.9 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 64 BXGD003472 Bone marrow depression C0151773 D61.9 disease C05;C15 Musculoskeletal Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD003473 Cutaneous Melanoma C0151779 C43.9 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 507 BXGD003474 Disease of mucous membrane C0151785 group C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 30 BXGD003475 Muscle Weakness C0151786 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom HP:0003011 Abnormality of the musculature T184 Sign or Symptom 536 BXGD003476 Eosinophilic myocarditis C0151788 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD003477 Hepatic necrosis C0151798 phenotype C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 44 BXGD003478 Subcutaneous nodule C0151811 phenotype C04;C17;C05 Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Pathologic Function HP:0001574 Abnormality of the integument T046 Pathologic Function 80 BXGD003479 Coronary Occlusion C0151814 I22 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 28 BXGD003480 Opisthotonus C0151818 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T184 Sign or Symptom 32 BXGD003481 Bone pain C0151825 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom HP:0025142;HP:0000924 Constitutional symptom; Abnormality of the skeletal system T184 Sign or Symptom 139 BXGD003482 Retrosternal pain C0151826 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD003483 Eye pain C0151827 H57.10 phenotype C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom HP:0025142;HP:0000478 Constitutional symptom; Abnormality of the eye T184 Sign or Symptom 10 BXGD003484 Injection site pain C0151828 phenotype C23;C17;C25 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Chemically-Induced Disorders Sign or Symptom T184 Sign or Symptom 3 BXGD003485 Periosteal Disorder C0151846 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 80 BXGD003486 Alkaline phosphatase raised C0151849 phenotype C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Finding T033 Finding 55 BXGD003487 Abnormal platelets C0151854 phenotype C15 Hemic and Lymphatic Diseases Cell or Molecular Dysfunction HP:0001871 Abnormality of blood and blood-forming tissues T049 Cell or Molecular Dysfunction 11 BXGD003488 Pleocytosis C0151857 disease C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 31 BXGD003489 Polyserositis C0151859 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD003490 Acquired porencephaly C0151860 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 34 BXGD003491 Porphyruria C0151861 disease C23;C18;C17 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T047 Disease or Syndrome 2 BXGD003492 Disorder of pregnancy C0151864 group C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD003493 Prothrombin time increased C0151872 phenotype C15 Hemic and Lymphatic Diseases Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 30 BXGD003494 Fungal infection of lung C0151874 group C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD003495 Prolonged QT interval C0151878 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 38 BXGD003496 Shortened QT interval C0151879 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 13 BXGD003497 Hyporeflexia C0151888 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 312 BXGD003498 Hyperreflexia C0151889 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 539 BXGD003499 Retinal depigmentation C0151891 phenotype C23;C11;C17 Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 19 BXGD003500 Serum iron raised C0151900 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 10 BXGD003501 Aspartate Aminotransferase Increased C0151904 phenotype C06 Digestive System Diseases Finding HP:0025031 Abnormality of the digestive system T033 Finding 4 BXGD003502 Dry skin C0151908 phenotype C17 Skin and Connective Tissue Diseases Sign or Symptom HP:0001574 Abnormality of the integument T184 Sign or Symptom 159 BXGD003503 Generalized Spasms C0151911 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 2 BXGD003504 Hypogeusia C0151934 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707;HP:0000152 Abnormality of the nervous system; Abnormality of head or neck T033 Finding 6 BXGD003505 Disorder of tendon C0151936 group C17;C05 Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 79 BXGD003506 Hypocalcemic tetany C0151940 disease C23;C18;C05;C10 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0001939;HP:0000707 Abnormality of metabolism/homeostasis; Abnormality of the nervous system T047 Disease or Syndrome 4 BXGD003507 Arterial thrombosis C0151942 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function HP:0001871 Abnormality of blood and blood-forming tissues T046 Pathologic Function 33 BXGD003508 Thrombosis of cerebral veins C0151945 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 35 BXGD003509 Pulmonary artery thrombosis C0151947 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD003510 Deep thrombophlebitis C0151950 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD003511 Ulcer of esophagus C0151970 K22.10 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD003512 Primary ulcer of intestine C0151971 K63.3 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD003513 Renal vasculitis C0152002 disease C13;C17;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD003514 Vulvovaginal disease C0152008 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 1 BXGD003515 White blood cell abnormality C0152009 phenotype C15 Hemic and Lymphatic Diseases Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 8 BXGD003516 Adenocarcinoma of lung (disorder) C0152013 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0002086 Neoplasm; Abnormality of the respiratory system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2438 BXGD003517 Atrophy of pancreas C0152014 K86.89 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD003518 Esophageal carcinoma C0152018 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1287 BXGD003519 Gastroparesis C0152020 K31.84 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome HP:0025031;HP:0003011 Abnormality of the digestive system; Abnormality of the musculature DOID:7 disease of anatomical entity T047 Disease or Syndrome 95 BXGD003520 Congenital heart disease C0152021 Q24.9 group C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T019 Congenital Abnormality 267 BXGD003521 Polyneuropathy C0152025 G62.9 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 156 BXGD003522 Retinal Vasculitis C0152026 H35.06 disease C11;C14 Eye Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000478;HP:0001626 Abnormality of the eye; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD003523 Sensory Disorders C0152027 H02.59 group C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD003524 Joint swelling C0152031 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001939;HP:0000924 Abnormality of metabolism/homeostasis; Abnormality of the skeletal system T033 Finding 33 BXGD003525 Lobomycosis C0152066 B48.0 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 16 BXGD003526 Echinococcus granulosus infection C0152068 B67.4 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 6 BXGD003527 Echinococcus multilocularis infection C0152069 B67.6 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 37 BXGD003528 Ovale malaria C0152072 B53.0 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 1 BXGD003529 Taenia saginata infection C0152073 B68.1 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 1 BXGD003530 Pustular psoriasis C0152081 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD003531 Crystal Arthropathies C0152087 M11.9 group C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD003532 Traumatic spondylopathy C0152088 M48.3 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD003533 Post-laminectomy syndrome C0152089 disease C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD003534 Osteochondropathy C0152091 M93.9 group C17;C05 Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003535 Juvenile dermatitis herpetiformis C0152092 L12.2 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003536 Hypermobility syndrome C0152093 M35.7 disease C17;C05 Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD003537 Patau syndrome C0152095 Q91.7 disease C16;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 15 BXGD003538 Complete trisomy 18 syndrome C0152096 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 47 BXGD003539 Disease of diaphragm C0152097 J98.6 group C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003540 Hypoplastic Left Heart Syndrome C0152101 Q23.4 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 52 BXGD003541 Hypertensive heart disease C0152105 I11.9 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 32 BXGD003542 Juvenile Spinal Muscular Atrophy C0152109 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD003543 Rheumatic Chorea C0152113 I02 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD003544 Lingual-Facial-Buccal Dyskinesia C0152115 G24.4 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 26 BXGD003545 Spasmodic torticollis C0152116 G24.3 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707;HP:0000152;HP:0003011 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculature T184 Sign or Symptom 2 BXGD003546 Drug withdrawal syndrome C0152128 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD003547 Hypertensive Retinopathy C0152132 H35.03 disease C11;C14 Eye Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000478;HP:0001626 Abnormality of the eye; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 24 BXGD003548 Low Tension Glaucoma C0152136 H40.12 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 103 BXGD003549 Glaucomatocyclitic crisis C0152138 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD003550 Cyclical vomiting syndrome (disorder) C0152164 G43.A disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 28 BXGD003551 Renal Colic C0152169 N23 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 5 BXGD003552 Idiopathic pulmonary hypertension C0152171 I27.0 disease C08;C14 Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 161 BXGD003553 Angina decubitus C0152172 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD003554 Explosive personality disorder C0152183 F60.3 disease F03;F01 Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD003555 Refractive amblyopia C0152190 H53.02 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003556 Scotoma, Central C0152191 H53.41 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 43 BXGD003557 Achromatopsia C0152200 H53.51 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 26 BXGD003558 Alternating esotropia C0152205 H50.05 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD003559 Alternating Exotropia C0152207 H50.15 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003560 Exophoria C0152217 H50.52 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 3 BXGD003561 Paralytic strabismus C0152221 H49 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD003562 Lagophthalmos C0152226 H02.2 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD003563 Excessive tearing C0152227 H04.20 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 26 BXGD003564 Cholinergic urticaria C0152230 L50.5 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD003565 Congenital ankyloblepharon C0152233 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality T019 Congenital Abnormality 18 BXGD003566 Iniencephaly C0152234 Q00.2 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 28 BXGD003567 Congenital genu recurvatum C0152235 Q68.2 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 26 BXGD003568 Talipes valgus C0152236 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 2 BXGD003569 Talipes Calcaneovalgus C0152237 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality HP:0040064 Abnormality of limbs T190 Anatomical Abnormality 9 BXGD003570 Uterus bilocularis C0152240 Q51.28 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system DOID:630 genetic disease T019 Congenital Abnormality 6 BXGD003571 Bone Cysts, Aneurysmal C0152244 M85.50 disease C04;C05 Neoplasms; Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 79 BXGD003572 Anterior synechiae C0152252 H21.51 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 7 BXGD003573 Posterior synechiae C0152253 H21.54 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 5 BXGD003574 Pinguecula C0152255 H11.15 disease C11 Eye Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003575 Disuse osteoporosis C0152256 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD003576 Cataract secondary to ocular disorder C0152259 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD003577 Familial erythrocytosis C0152264 D75.0 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 17 BXGD003578 Mixed Cellularity Hodgkin Lymphoma C0152266 C81.2 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 19 BXGD003579 Hodgkin lymphoma, lymphocyte depletion C0152267 C81.3 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD003580 Nodular Sclerosis Classical Hodgkin Lymphoma C0152268 C81.1 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 66 BXGD003581 Granulocytic Sarcoma C0152276 C92.3 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 28 BXGD003582 Pneumonia due to respiratory syncytial virus C0152413 J12.1 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD003583 Ankyloglossia C0152415 Q38.1 disease C07 Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T019 Congenital Abnormality 19 BXGD003584 Congenital stenosis of aortic valve C0152417 Q23.0 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 5 BXGD003585 Interrupted aortic arch C0152419 Q25.21 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T019 Congenital Abnormality 13 BXGD003586 Macrotia C0152421 Q17.1 disease Congenital Abnormality HP:0000598 Abnormality of the ear T019 Congenital Abnormality 188 BXGD003587 Congenital small ears C0152423 Q17.2 disease C16;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality HP:0000598 Abnormality of the ear T019 Congenital Abnormality 137 BXGD003588 Common ventricle C0152424 Q20.4 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T019 Congenital Abnormality 22 BXGD003589 Craniorachischisis C0152426 Q00.1 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 38 BXGD003590 Polydactyly C0152427 Q69.9 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:0080015 physical disorder T019 Congenital Abnormality 188 BXGD003591 Hymen, Imperforate C0152436 Q52.3 disease C23 Pathological Conditions, Signs and Symptoms Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 3 BXGD003592 Sprengel deformity C0152438 Q74.0 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0000924 Abnormality of the skeletal system DOID:630;DOID:7;DOID:0080015 genetic disease; disease of anatomical entity; physical disorder T019 Congenital Abnormality 29 BXGD003593 Retinoschisis C0152439 H33.10 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD003594 Madelung Deformity C0152441 Q74.0 disease C23;C16;C05 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:630;DOID:7;DOID:0080015 genetic disease; disease of anatomical entity; physical disorder T019 Congenital Abnormality 8 BXGD003595 Urethral diverticulum C0152443 N36.1 phenotype C23;C06;C13;C12 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003596 Hydrorhachis C0152444 Q06.4 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD003597 Chronic glomerulonephritis C0152451 N03 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 41 BXGD003598 Keratomalacia C0152455 H18.44 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD003599 Kayser-Fleischer ring C0152457 H18.04 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 2 BXGD003600 Linear atrophy C0152459 L90.6 disease C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality HP:0001574 Abnormality of the integument T020 Acquired Abnormality 149 BXGD003601 Salmonella osteomyelitis C0152491 A02.24 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome HP:0002715;HP:0000924 Abnormality of the immune system; Abnormality of the skeletal system T047 Disease or Syndrome 1 BXGD003602 Food poisoning caused by Vibrio parahaemolyticus C0152497 A05.3 disease C01;C25 Infections; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD003603 Bacterial enteritis C0152516 A04.9 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD003604 Viral gastroenteritis C0152517 A08.4 group C23;C06;C01 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 15 BXGD003605 Primary tuberculosis C0152545 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD003606 Tuberculosis of esophagus C0152902 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 1 BXGD003607 Acute miliary tuberculosis C0152915 A19.2 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 8 BXGD003608 Plague, Septicemic C0152936 A20.7 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 3 BXGD003609 Streptococcal sepsis C0152964 A40 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD003610 Staphylococcal sepsis C0152965 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD003611 Pneumococcal sepsis C0152966 A40.3 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD003612 Non-arthropod borne lymphocytic choriomeningitis C0153014 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 133 BXGD003613 Measles with complication C0153053 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD003614 Encephalomyelitis, Eastern Equine C0153065 A83.2 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 1 BXGD003615 Mumps meningitis C0153092 B26.1 disease C01;C10;C07 Infections; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD003616 Systemic candidiasis C0153252 B37.7 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 73 BXGD003617 Primary pulmonary coccidioidomycosis C0153257 disease C23;C01;C08 Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD003618 Histoplasma capsulatum Infection C0153261 B39.4 group C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 1 BXGD003619 Toxoplasmosis chorioretinitis C0153308 B58.01 disease C01;C11 Infections; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD003620 Cancer of Lip C0153340 C00.9 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD003621 Malignant neoplasm of tongue C0153349 C02.9 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 155 BXGD003622 Malignant neoplasm of floor of mouth C0153368 C04.9 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD003623 Malignant neoplasm of anterior portion of floor of mouth C0153369 C04.0 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD003624 Malignant neoplasm of cheek mucosa C0153373 C06.0 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD003625 Malignant neoplasm of other specified parts of mouth C0153380 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 9 BXGD003626 Malignant neoplasm of mouth C0153381 C06.9 group C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 756 BXGD003627 Malignant neoplasm of oropharynx C0153382 C10.9 disease C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 83 BXGD003628 malignant neoplasm of lateral wall of oropharynx C0153389 C10.2 disease C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD003629 Malignant neoplasm of posterior wall of oropharynx C0153390 C10.3 disease C04;C08;C07;C09 Neoplasms; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD003630 Malignant neoplasm of nasopharynx C0153392 C11.9 disease C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 136 BXGD003631 Hypopharyngeal Cancer C0153398 C13 disease C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 50 BXGD003632 Malignant neoplasm of pharynx C0153405 C14.0 disease C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process T191 Neoplastic Process 37 BXGD003633 Malignant neoplasm of other sites within the lip and oral cavity C0153407 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 9 BXGD003634 Malignant neoplasm of upper third of esophagus C0153413 C15.3 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD003635 Malignant neoplasm of middle third of esophagus C0153414 C15.4 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD003636 Malignant neoplasm of lower third of esophagus C0153415 C15.5 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD003637 Malignant neoplasm of other specified part of esophagus C0153416 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD003638 Malignant neoplasm of body of stomach C0153421 C16.2 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD003639 Malignant tumor of lesser curve of stomach C0153422 C16.5 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD003640 Malignant tumor of greater curve of stomach C0153423 C16.6 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD003641 Malignant tumor of small intestine C0153425 C17 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD003642 Malignant neoplasm of duodenum C0153426 C17.0 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD003643 Malignant neoplasm of sigmoid colon C0153436 C18.7 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD003644 Malignant neoplasm of cecum C0153437 C18.0 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD003645 Malignant neoplasm of ascending colon C0153439 C18.2 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD003646 Malignant neoplasm of anus C0153446 C21.0 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 34 BXGD003647 Malignant neoplasm of gallbladder C0153452 C23 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 425 BXGD003648 Malignant tumor of extrahepatic bile duct C0153453 C24.0 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 14 BXGD003649 malignant neoplasm of head of pancreas C0153458 C25.0 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD003650 Malignant neoplasm of body of pancreas C0153459 C25.1 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD003651 Malignant neoplasm of tail of pancreas C0153460 C25.2 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD003652 Malignant neoplasm of other specified sites of pancreas C0153463 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD003653 Malignant tumor of peritoneum C0153467 C48.2 disease C06;C04;C17 Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 23 BXGD003654 Malignant neoplasm of spleen C0153470 C26.1 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD003655 Malignant neoplasm of middle lobe, bronchus or lung C0153491 C34.2 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD003656 Malignant neoplasm of lower lobe, bronchus or lung C0153492 C34.3 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD003657 Malignant neoplasm of other parts of bronchus or lung C0153493 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD003658 Malignant neoplasm of heart C0153500 C38.0 disease C04;C08;C14 Neoplasms; Respiratory Tract Diseases; Cardiovascular Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD003659 Malignant tumor of mediastinum C0153504 C38.3 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD003660 Malignant neoplasm of connective and other soft tissue, site unspecified C0153519 C49 group C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD003661 Malignant melanoma of skin of upper limb C0153535 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 32 BXGD003662 Malignant melanoma of skin of lower limb C0153536 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 32 BXGD003663 Kaposi's sarcoma of skin C0153560 C46.0 disease C04;C01 Neoplasms; Infections Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD003664 Kaposi's sarcoma of palate C0153562 C46.2 disease C04;C01 Neoplasms; Infections Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD003665 Uterine Cancer C0153567 C55 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 54 BXGD003666 Malignant Placental Neoplasm C0153572 C58 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD003667 Malignant Uterine Corpus Neoplasm C0153574 C54.9 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 26 BXGD003668 Malignant neoplasm of fallopian tube C0153579 C57.0 group C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD003669 Malignant neoplasm of testis C0153594 C62.9 disease C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 253 BXGD003670 Malignant neoplasm of penis C0153601 C60.9 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 39 BXGD003671 Malignant neoplasm of ureteric orifice C0153614 C67.6 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD003672 Malignant tumor of renal pelvis C0153618 C65 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD003673 Malignant neoplasm of ureter C0153619 C66 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD003674 Malignant neoplasm of brain C0153633 C71 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 294 BXGD003675 Malignant tumor of parathyroid gland C0153653 C75.0 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD003676 Malignant neoplasm of endocrine gland C0153658 C75.9 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD003677 Malignant neoplasm of thorax C0153661 C76.1 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD003678 Malignant neoplasm of abdomen C0153662 C76.2 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD003679 Secondary malignant neoplasm of lung C0153676 C78.0 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 1370 BXGD003680 Secondary malignant neoplasm of mediastinum C0153677 C78.1 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD003681 Secondary malignant neoplasm of pleura C0153678 C78.2 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD003682 Secondary malignant neoplasm of kidney C0153685 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 8 BXGD003683 Secondary malignant neoplasm of skin C0153687 C79.2 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 37 BXGD003684 Secondary malignant neoplasm of bone C0153690 C79.51 disease C23;C04;C05 Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases Neoplastic Process T191 Neoplastic Process 647 BXGD003685 Secondary malignant neoplasm of adrenal gland C0153691 C79.7 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD003686 Acute myeloid leukemia in remission C0153886 C92.01 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD003687 Chronic myeloid leukemia in remission C0153888 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD003688 Benign neoplasm of esophagus C0153942 D13.0 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD003689 Benign neoplasm of stomach C0153943 D13.1 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 17 BXGD003690 Benign neoplasm of testis C0154007 D29.2 disease C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD003691 Benign neoplasm of prostate C0154009 D29.1 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD003692 Benign neoplasm of bladder C0154017 D30.3 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 15 BXGD003693 Benign neoplasm of thyroid gland C0154038 D34 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 10 BXGD003694 Benign neoplasm of adrenal gland C0154040 D35.0 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD003695 Hemangioma of retina C0154051 disease C04;C11;C14 Neoplasms; Eye Diseases; Cardiovascular Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD003696 Carcinoma in situ of esophagus C0154059 D00.1 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD003697 Carcinoma in situ of stomach C0154060 D00.2 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 19 BXGD003698 Carcinoma in situ of anus C0154064 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD003699 Stage 0 Breast Carcinoma C0154084 D05 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 33 BXGD003700 Carcinoma in situ of prostate C0154088 D07.5 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD003701 Carcinoma in situ of penis C0154089 D07.4 disease C04;C17;C12 Neoplasms; Skin and Connective Tissue Diseases; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD003702 Carcinoma in situ of bladder C0154091 D09.0 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 16 BXGD003703 Thyrotoxicosis with toxic single thyroid nodule C0154141 E05.1 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 3 BXGD003704 Toxic multinodular goiter C0154143 E05.2 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD003705 Postoperative hypothyroidism C0154157 E89.0 disease C23;C19 Pathological Conditions, Signs and Symptoms; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003706 Other specified disorders of adrenal gland C0154207 E27.8 disease C19 Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD003707 Disorder of endocrine ovary C0154208 E28.9 group C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 22 BXGD003708 Hyperestrogenism C0154209 E28.0 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD003709 Urea Cycle Disorders, Inborn C0154246 E72.20 group C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 14 BXGD003710 Lipid Metabolism Disorders C0154251 group C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 95 BXGD003711 Polyclonal hypergammaglobulinemia C0154254 D89.0 phenotype C23;C20;C15 Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD003712 Iron deficiency anemia secondary to chronic blood loss C0154286 D50.0 disease C18;C15 Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD003713 Acute posthaemorrhagic anaemia C0154298 D62 disease C18;C15 Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD003714 Acquired thrombocytopenia C0154301 D69.5 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD003715 Banti's syndrome C0154307 disease C23;C06;C15 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD003716 Other specified senile psychotic conditions C0154319 disease C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 6 BXGD003717 Recurrent major depressive episodes C0154409 F33 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 36 BXGD003718 Atypical depressive disorder C0154437 F32.89 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 7 BXGD003719 Amphetamine or related acting sympathomimetic abuse C0154536 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 3 BXGD003720 Specific disorders of sleep of non-organic origin C0154564 group C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 3 BXGD003721 Non-organic sleep disorder C0154565 phenotype C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD003722 Rumination Disorders C0154575 group F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 33 BXGD003723 Hyperkinetic conduct disorder of childhood C0154628 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD003724 Eosinophilic meningitis C0154652 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD003725 Toxic Encephalitis C0154659 G92 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 29 BXGD003726 Degenerative brain disorder C0154671 group C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD003727 Symptomatic torsion dystonia C0154674 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003728 Fragments of torsion dystonia C0154675 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003729 Organic writer's cramp C0154676 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD003730 Anterior Horn Cell Disease C0154681 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD003731 Lateral Sclerosis C0154682 G12.23 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 19 BXGD003732 Hemiplegia, Flaccid C0154693 G81.0 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD003733 Hemiplegia, Spastic C0154694 G81.1 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T047 Disease or Syndrome 4 BXGD003734 Diplegic Infantile Cerebral Palsy C0154695 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003735 Cerebral Palsy, Quadriplegic, Infantile C0154697 disease C10 Nervous System Diseases Disease or Syndrome; Congenital Abnormality DOID:7 disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 1 BXGD003736 Monoplegic Infantile Cerebral Palsy C0154698 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003737 Migraine with Aura C0154723 G43.109 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 87 BXGD003738 Multiple cranial nerve palsy C0154733 G52.7 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD003739 Other lesions of median nerve C0154742 G56.10 phenotype C10 Nervous System Diseases Pathologic Function DOID:7 disease of anatomical entity T046 Pathologic Function 8 BXGD003740 Lesion of Sciatic Nerve C0154748 G57.00 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD003741 Hereditary and idiopathic neuropathy, unspecified C0154754 G60.9 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD003742 Myopia, Degenerative C0154778 H44.2 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 39 BXGD003743 Serous retinal detachment C0154822 H33.2 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD003744 Retinal defect C0154823 phenotype C11 Eye Diseases Anatomical Abnormality DOID:7 disease of anatomical entity T190 Anatomical Abnormality 13 BXGD003745 Traction detachment of retina C0154828 H33.40 disease C11 Eye Diseases Pathologic Function HP:0000478 Abnormality of the eye T046 Pathologic Function 4 BXGD003746 Proliferative diabetic retinopathy C0154830 disease C23;C11;C19;C14 Pathological Conditions, Signs and Symptoms; Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 180 BXGD003747 Exudative retinopathy C0154832 H35.07 disease C11;C14 Eye Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 23 BXGD003748 Retinal telangiectasia C0154835 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001574;HP:0000478;HP:0001626 Abnormality of the integument; Abnormality of the eye; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 20 BXGD003749 Central retinal vein occlusion C0154841 H34.81 disease C11;C10;C14 Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 38 BXGD003750 Cystoid macular retinal degeneration C0154850 H35.35 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD003751 Retinal lattice degeneration C0154856 H35.41 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD003752 Hereditary retinal dystrophy C0154860 H35.5 group C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 42 BXGD003753 Neuroretinitis C0154874 H30.9 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD003754 Rubeosis iridis C0154916 H21.1 disease Disease or Syndrome HP:0000478;HP:0001626 Abnormality of the eye; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD003755 Pigmentary iris degeneration C0154920 phenotype C11;C17 Eye Diseases; Skin and Connective Tissue Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 37 BXGD003756 Adhesions of iris C0154933 H21.50 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD003757 Peripheral anterior synechiae C0154934 H21.52 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD003758 Pupillary abnormality C0154936 H21.56 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 18 BXGD003759 Acute angle-closure glaucoma C0154946 H40.21 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD003760 Anatomical narrow angle glaucoma C0154947 H40.22 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD003761 Presenile cataract C0154971 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 8 BXGD003762 Sudden visual loss C0155002 H53.139 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD003763 Blindness, Transient C0155003 H53.12 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function T046 Pathologic Function 3 BXGD003764 Color Blindness, Red C0155015 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD003765 Color Blindness, Red-Green C0155016 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 24 BXGD003766 Color Blindness, Blue C0155017 H53.55 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 25 BXGD003767 Color Blindness, Acquired C0155018 H53.52 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD003768 Mooren's ulcer C0155072 H16.05 disease C01;C11 Infections; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD003769 Corneal pannus C0155094 H16.42 disease C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 66 BXGD003770 Peripheral opacity of cornea C0155100 H17.82 phenotype C11 Eye Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD003771 Bullous keratopathy C0155111 H18.1 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD003772 Corneal degeneration C0155118 H18.4 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD003773 Recurrent erosion of cornea C0155119 H18.83 disease C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD003774 Corneal Dystrophy, Band-Shaped C0155120 H18.42 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD003775 Familial Amyloid Polyneuropathy, Type V C0155127 H18.54 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 8 BXGD003776 Acute conjunctivitis C0155141 H10.3 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD003777 Recurrent pterygium C0155158 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD003778 Conjunctival scar C0155164 H11.249 disease C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Acquired Abnormality T020 Acquired Abnormality 14 BXGD003779 Cicatricial ectropion C0155196 disease C11 Eye Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD003780 Eyelid Xanthoma C0155210 H02.6 disease C18;C11 Nutritional and Metabolic Diseases; Eye Diseases Disease or Syndrome HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T047 Disease or Syndrome 19 BXGD003781 Dacryoadenitis C0155223 H04.0 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD003782 Orbital cyst C0155285 H05.81 disease C23;C04;C11 Pathological Conditions, Signs and Symptoms; Neoplasms; Eye Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD003783 Coloboma of optic disc C0155299 Q14.2 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 30 BXGD003784 Pseudopapilledema C0155300 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD003785 Optic Neuropathy, Ischemic C0155305 H47.01 disease C11;C10;C14 Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD003786 Blindness, Cortical C0155320 H47.61 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD003787 Total ophthalmoplegia C0155338 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD003788 Staphyloma posticum C0155360 H15.83 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD003789 Vitreous degeneration C0155366 H43.81 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD003790 Nystagmus associated with disorder of the vestibular system C0155379 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000707;HP:0000478 Abnormality of the nervous system; Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003791 Dissociated Nystagmus C0155380 H55.04 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003792 Exostosis of external ear canal C0155411 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0002664;HP:0000924;HP:0000598 Neoplasm; Abnormality of the skeletal system; Abnormality of the ear T047 Disease or Syndrome 1 BXGD003793 Patulous eustachian tube C0155434 H69.0 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003794 Tympanosclerosis involving other combination of structures C0155477 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003795 Middle Ear Cholesteatoma C0155490 H71 disease C17;C09 Skin and Connective Tissue Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 29 BXGD003796 Benign Paroxysmal Positional Vertigo C0155502 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD003797 Serous labyrinthitis C0155504 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003798 Cochlear otosclerosis C0155526 H80.2 disease C09 Otorhinolaryngologic Diseases Acquired Abnormality T020 Acquired Abnormality 1 BXGD003799 Paracousis C0155536 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom T184 Sign or Symptom 3 BXGD003800 Neural hearing loss C0155550 H90.5 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD003801 Hearing Loss, Mixed Conductive-Sensorineural C0155552 H90.8 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000598 Abnormality of the ear T047 Disease or Syndrome 23 BXGD003802 Rheumatic mitral regurgitation C0155563 I05.1 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003803 Rheumatic aortic stenosis C0155567 I06.0 disease C01;C14 Infections; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD003804 Hypertensive heart and renal disease C0155601 I13 disease C13;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD003805 Secondary hypertension C0155616 I15.9 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 22 BXGD003806 Acute myocardial infarction C0155626 I21.9 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 766 BXGD003807 Old myocardial infarction C0155668 I25.2 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD003808 Pulmonary Arteriovenous Fistulas C0155675 I28.0 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 5 BXGD003809 Pulmonary artery aneurysm C0155676 I28.1 phenotype C14 Cardiovascular Diseases Pathologic Function HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system T046 Pathologic Function 4 BXGD003810 Acute pericarditis C0155679 I30.9 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD003811 Acute myocarditis C0155686 I40.9 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 33 BXGD003812 Cardiomyopathy in other diseases classified elsewhere C0155699 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003813 Trifascicular block C0155707 I45.3 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 23 BXGD003814 Other specified conduction disorders C0155708 I45.89 phenotype C14 Cardiovascular Diseases Pathologic Function DOID:630;DOID:7 genetic disease; disease of anatomical entity T046 Pathologic Function 2 BXGD003815 Atherosclerosis of aorta C0155733 I70.0 phenotype C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 37 BXGD003816 Aneurysm of splenic artery C0155747 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003817 Rupture of artery C0155760 I77.2 disease Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 5 BXGD003818 Hyperplasia of renal artery C0155761 I77.3 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD003819 Disease of capillaries C0155765 I78.9 group C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 61 BXGD003820 Portal Vein Thrombosis C0155773 I81 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 59 BXGD003821 Varicose veins of lower extremity C0155778 I83.9 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD003822 Bleeding esophageal varices C0155789 I85.01 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD003823 Acute maxillary sinusitis C0155804 J01.0 disease C01;C08;C09 Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003824 Acute bronchitis and bronchiolitis C0155820 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD003825 Chronic nasopharyngitis C0155826 J31.1 disease C01;C08;C07;C09 Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD003826 Pneumonia due to Pseudomonas C0155860 J15.1 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD003827 Streptococcal pneumonia C0155862 J13 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 100 BXGD003828 Inhalational anthrax C0155866 A22.1 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 2 BXGD003829 Pneumonia and influenza C0155870 J11.00 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD003830 Allergic asthma C0155877 J45 disease C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 371 BXGD003831 Intrinsic asthma C0155880 J45 disease C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 29 BXGD003832 Chronic obstructive asthma (with obstructive pulmonary disease) C0155883 J44 disease C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD003833 Tooth development and eruption disorder C0155922 K00 disease F03;C07 Mental Disorders; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD003834 Tooth Ankylosis C0155930 K03.5 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003835 Arthralgia of temporomandibular joint C0155943 M26.62 disease C23;C05;C10;C07 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD003836 Atrophy of tongue papillae C0155964 K14.4 disease C23;C07 Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD003837 Alcoholic gastritis C0156076 K29.2 disease C06;C25;F03 Digestive System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003838 Crohn's disease of large bowel C0156147 K50.1 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 96 BXGD003839 Gastrointestinal tract vascular insufficiency C0156149 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 68 BXGD003840 Functional diarrhea C0156173 K59.1 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD003841 Peritoneal adhesion C0156181 disease C06;C17 Digestive System Diseases; Skin and Connective Tissue Diseases Acquired Abnormality T020 Acquired Abnormality 32 BXGD003842 Acute glomerulonephritis C0156221 N00 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD003843 Unilateral small kidney C0156245 N27.0 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD003844 Calculus of kidney and ureter C0156257 N20.2 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD003845 Hypertrophy of kidney C0156259 N28.81 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 31 BXGD003846 Irradiation cystitis C0156270 N30.4 disease C13;C12;C26 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Wounds and Injuries Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD003847 Bladder Diverticulum C0156273 N32.3 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Acquired Abnormality HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T020 Acquired Abnormality 18 BXGD003848 Atrophy of prostate C0156296 disease C23;C12 Pathological Conditions, Signs and Symptoms; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD003849 Atrophy of testis C0156312 N50.0 disease C12;C19 Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 29 BXGD003850 Fibrosclerosis of breast C0156318 N60.3 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 1 BXGD003851 Endometriosis of ovary C0156344 N80.1 disease C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 70 BXGD003852 Prolapse of female genital organs C0156349 group C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 6 BXGD003853 Uterine Polyp C0156369 N84.0 disease C23;C04;C13 Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 41 BXGD003854 Asherman Syndrome C0156372 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 7 BXGD003855 Polyp of vagina C0156390 N84.2 disease C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 2 BXGD003856 Hypertrophy of clitoris C0156394 N90.89 disease C16;C13 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 63 BXGD003857 Irregular Menstruation C0156404 N92.6 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0000818 Abnormality of the endocrine system T033 Finding 9 BXGD003858 Postmenopausal atrophic vaginitis C0156409 N95.2 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD003859 Thyroid dysfunction, postpartum C0156841 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD003860 Anaemia, postpartum C0156847 O90.81 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD003861 Chronic skin ulcer C0157738 L98.4 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD003862 Urticaria due to cold and heat C0157742 L50.2 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Injury or Poisoning DOID:630;DOID:7 genetic disease; disease of anatomical entity T037 Injury or Poisoning 2 BXGD003863 Vibratory urticaria C0157743 L50.4 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD003864 Arthropathy associated with infection C0157749 M00-M02 disease C23;C01;C05 Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD003865 Infective arthritis of shoulder region C0157843 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003866 Unspecified infective arthritis involving upper arm C0157844 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003867 Unspecified infective arthritis involving forearm C0157845 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003868 Unspecified infective arthritis involving hand C0157846 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003869 Unspecified infective arthritis, pelvic region and thigh C0157847 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003870 Unspecified infective arthritis involving lower leg C0157848 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003871 Unspecified infective arthritis, ankle and foot C0157849 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003872 Pauciarticular juvenile rheumatoid arthritis C0157917 M08.4 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD003873 Osteoarthrosis, localized, not specified whether primary or secondary C0157946 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 28 BXGD003874 Monoarthritis C0158026 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD003875 Contracture of joint of hand C0158113 M24.54 disease C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064;HP:0000924;HP:0003549;HP:0003011 Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T190 Anatomical Abnormality 55 BXGD003876 Cervical spondylosis with myelopathy C0158242 disease C05;C10;C26 Musculoskeletal Diseases; Nervous System Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 3 BXGD003877 Intervertebral disc disorder C0158252 group C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 188 BXGD003878 Intervertebral Disc Degeneration C0158266 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 342 BXGD003879 Spinal stenosis of lumbar region C0158288 M48.061 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 34 BXGD003880 Adhesive Capsulitis C0158300 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD003881 Trigger Finger Disorder C0158328 M65.3 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 2 BXGD003882 Infectious Myositis C0158353 M60.00 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD003883 Fibromatosis, Plantar C0158360 M72.2 disease C04;C17;C05 Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003884 Acute osteomyelitis C0158371 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD003885 Idiopathic osteoporosis C0158447 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD003886 Acquired hallux valgus C0158458 M20.10 disease C05 Musculoskeletal Diseases Acquired Abnormality T020 Acquired Abnormality 14 BXGD003887 Acquired cubitus valgus C0158465 M21.02 disease Acquired Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T020 Acquired Abnormality 35 BXGD003888 Acquired genu recurvatum C0158486 phenotype C05 Musculoskeletal Diseases Acquired Abnormality T020 Acquired Abnormality 23 BXGD003889 Acquired clubfoot C0158489 M21.54 disease C16;C13;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality T020 Acquired Abnormality 3 BXGD003890 Embryonal nuclear cataract (disorder) C0158551 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality T019 Congenital Abnormality 16 BXGD003891 Congenital vitreous anomaly C0158564 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD003892 Vascular anomaly C0158570 phenotype C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality T190 Anatomical Abnormality 47 BXGD003893 Congenital subaortic stenosis C0158621 Q24.4 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD003894 Congenital anomaly of coronary artery C0158623 group C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 3 BXGD003895 Congenital anomaly of aortic arch C0158629 disease C08;C14 Respiratory Tract Diseases; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 5 BXGD003896 Congenital anomaly of cerebrovascular system C0158638 group C16;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD003897 Cleft palate with cleft lip C0158646 Q35-Q37 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 119 BXGD003898 Tongue absent C0158663 Q38.3 disease C07 Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 3 BXGD003899 Polycystic liver disease C0158683 disease C23;C06;C04 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 38 BXGD003900 Congenital malformation of genital organs C0158687 Q50-Q56 group C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality T019 Congenital Abnormality 8 BXGD003901 Bilateral congenital dislocation of hip C0158713 Q65.1 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 2 BXGD003902 Congenital pectus carinatum C0158731 Q67.7 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 138 BXGD003903 Hand polydactyly C0158733 Q69.0 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 75 BXGD003904 Polydactyly of toes C0158734 Q69.2 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 61 BXGD003905 Radioulnar Synostosis C0158761 Q74.0 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:630;DOID:7;DOID:0080015 genetic disease; disease of anatomical entity; physical disorder T019 Congenital Abnormality 67 BXGD003906 Macrodactylia of fingers C0158763 Q74.0 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:630;DOID:7;DOID:0080015 genetic disease; disease of anatomical entity; physical disorder T019 Congenital Abnormality 1 BXGD003907 Macrodactyly of toe C0158768 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 1 BXGD003908 Cervical rib C0158779 Q76.5 disease Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 11 BXGD003909 Accessory skeletal muscle C0158784 Q79.8 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:0080015 physical disorder T019 Congenital Abnormality 1 BXGD003910 Fetal Malnutrition C0158850 disease C18;C13 Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 5 BXGD003911 Transitory tachypnea of newborn C0158940 P22.1 disease C23;C16;C08 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD003912 Infections specific to perinatal period C0158944 P35-P39 group C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 9 BXGD003913 Congenital cytomegalovirus infection C0158945 P35.1 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 29 BXGD003914 Neonatal diabetes mellitus C0158981 P70.2 disease C16;C18;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 42 BXGD003915 Neonatal thyrotoxicosis C0158983 P72.1 disease C16;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD003916 Neonatal hypoglycemia C0158986 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 55 BXGD003917 Congenital anemia C0158995 P61.4 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD003918 Anemia of prematurity C0158996 P61.2 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD003919 Convulsions in the newborn C0159020 P90 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD003920 Abnormal bowel sounds C0159060 R19.15 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 5 BXGD003921 Injury of liver C0160390 S36.11 disease C06;C26 Digestive System Diseases; Wounds and Injuries Injury or Poisoning T037 Injury or Poisoning 36 BXGD003922 Atrophic scar C0162154 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0001574;HP:0003549 Abnormality of the integument; Abnormality of connective tissue T046 Pathologic Function 23 BXGD003923 Congenital stenosis of pulmonary valve C0162164 Q22.1 disease C16;C13;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD003924 Ketonuria C0162275 R82.4 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T047 Disease or Syndrome 26 BXGD003925 Choroidal detachment C0162279 H31.40 disease C11 Eye Diseases Acquired Abnormality T020 Acquired Abnormality 3 BXGD003926 Corneal deposit C0162281 H18.00 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD003927 Nephrogenic Diabetes Insipidus C0162283 N25.1 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 60 BXGD003928 Edema of eyelid C0162285 H02.84 phenotype C13;C11;C17;C12;C20;C14 Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function HP:0001939;HP:0000152 Abnormality of metabolism/homeostasis; Abnormality of head or neck T046 Pathologic Function 22 BXGD003929 Retinal ischemia C0162291 H35.82 disease C11 Eye Diseases Pathologic Function DOID:7 disease of anatomical entity T046 Pathologic Function 7 BXGD003930 External Ophthalmoplegia C0162292 H49.88 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 41 BXGD003931 Polyarthralgia C0162296 disease C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD003932 Respiratory arrest C0162297 R09.2 phenotype C23;C08;C10;C14 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Pathologic Function HP:0002086 Abnormality of the respiratory system T046 Pathologic Function 12 BXGD003933 Joint stiffness C0162298 phenotype C05 Musculoskeletal Diseases Sign or Symptom HP:0000924 Abnormality of the skeletal system T184 Sign or Symptom 163 BXGD003934 Adrenoleukodystrophy C0162309 E71.52 disease C16;C18;C10;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 294 BXGD003935 Androgenetic Alopecia C0162311 L64.9 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 112 BXGD003936 Iron deficiency anemia C0162316 D50.9 disease C18;C15 Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 83 BXGD003937 Polyarthritis C0162323 M05-M14 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 65 BXGD003938 Contact hypersensitivity C0162351 phenotype C17 Skin and Connective Tissue Diseases Pathologic Function T046 Pathologic Function 71 BXGD003939 Christ-Siemens-Touraine syndrome C0162359 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 45 BXGD003940 Hidrotic Ectodermal Dysplasia C0162361 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 8 BXGD003941 Granuloma, Giant Cell Reparative C0162375 M27.1 disease C23;C05;C07 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 11 BXGD003942 Malnutrition C0162429 E40-E46 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:0014667 disease of metabolism T047 Disease or Syndrome 417 BXGD003943 Parapsoriasis en Plaques C0162442 L41.4 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD003944 Poison Ivy Dermatitis C0162451 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD003945 Neutrophilic Eccrine Hidradenitis C0162504 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD003946 Caroli Disease C0162510 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome; Congenital Abnormality DOID:7 disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 8 BXGD003947 AIDS-Related Opportunistic Infections C0162526 group C01;C20 Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD003948 Colitis, Ischemic C0162529 K55.9 disease C06;C14 Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD003949 Porphyria, Erythropoietic C0162530 E80.0 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 20 BXGD003950 Hereditary Coproporphyria C0162531 E80.29 disease C16;C06;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 13 BXGD003951 Variegate Porphyria C0162532 disease C16;C06;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 21 BXGD003952 Porphyrias, Hepatic C0162533 group C16;C06;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 7 BXGD003953 Prion Diseases C0162534 A81.9 group C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 175 BXGD003954 Immunoglobulin A deficiency (disorder) C0162538 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 72 BXGD003955 IgG Deficiency disorder C0162539 D80.3 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD003956 Liver Failure, Acute C0162557 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 282 BXGD003957 Acute intermittent porphyria C0162565 disease C16;C06;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 103 BXGD003958 Porphyria Cutanea Tarda C0162566 E80.1 disease C16;C06;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 30 BXGD003959 Erythropoietic Protoporphyria C0162568 E80.0 disease C16;C06;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 24 BXGD003960 Hepatoerythropoietic Porphyria C0162569 disease C16;C06;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD003961 Anisakiasis C0162576 B81.0 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 3 BXGD003962 Skin Diseases, Bacterial C0162627 group C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome HP:0003549 Abnormality of connective tissue T047 Disease or Syndrome 1 BXGD003963 Skin Diseases, Viral C0162628 group C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD003964 Angelman Syndrome C0162635 Q93.51 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 94 BXGD003965 Strongylida Infections C0162637 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD003966 Root Caries C0162644 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD003967 Mitochondrial Encephalomyopathies C0162666 disease C18;C05;C10 Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 53 BXGD003968 Megaconial Myopathies C0162668 disease C18;C05;C10 Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD003969 Pleoconial Myopathies C0162669 disease C18;C05;C10 Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD003970 Mitochondrial Myopathies C0162670 group C18;C05;C10 Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0003011 Abnormality of the musculature DOID:7 disease of anatomical entity T047 Disease or Syndrome 121 BXGD003971 MELAS Syndrome C0162671 E88.41 disease C16;C18;C05;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 80 BXGD003972 MERRF Syndrome C0162672 E88.42 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 51 BXGD003973 Chronic progressive external ophthalmoplegia C0162674 H49.4 disease C23;C18;C11;C05;C10 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 50 BXGD003974 Neurofibromatoses C0162678 Q85.00 group C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process HP:0001574;HP:0000707;HP:0002664 Abnormality of the integument; Abnormality of the nervous system; Neoplasm DOID:630 genetic disease T191 Neoplastic Process 135 BXGD003975 Leukemic Infiltration C0162679 phenotype C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 7 BXGD003976 Tick-Borne Infections C0162699 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD003977 Tick-Borne Diseases C0162700 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD003978 Polysomnography C0162701 phenotype Diagnostic Procedure T060 Diagnostic Procedure 119 BXGD003979 HELLP Syndrome C0162739 O14.2 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 77 BXGD003980 Right Ventricular Hypertrophy C0162770 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 160 BXGD003981 Kallmann Syndrome C0162809 E23.0 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 86 BXGD003982 Cicatrix, Hypertrophic C0162810 L91.0 disease C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality T020 Acquired Abnormality 185 BXGD003983 Skin Diseases, Eczematous C0162817 group C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD003984 Skin Diseases, Vascular C0162819 group C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD003985 Dermatitis, Allergic Contact C0162820 L23.9 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 151 BXGD003986 Dermatitis, Irritant C0162823 L24.9 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 29 BXGD003987 Dermatitis, Phototoxic C0162830 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 89 BXGD003988 Hyperpigmentation C0162834 phenotype C17 Skin and Connective Tissue Diseases Pathologic Function HP:0001574 Abnormality of the integument T046 Pathologic Function 73 BXGD003989 Hypopigmentation disorder C0162835 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 126 BXGD003990 Hidradenitis Suppurativa C0162836 L73.2 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 82 BXGD003991 Porokeratosis C0162839 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 11 BXGD003992 Lichenoid Eruptions C0162848 group C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD003993 Pityriasis Lichenoides et Varioliformis Acuta C0162852 L41.0 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD003994 Pityriasis Lichenoides C0162853 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD003995 Aneurysm, Ruptured C0162869 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD003996 Aortic Aneurysm, Abdominal C0162871 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 586 BXGD003997 Aortic Aneurysm, Thoracic C0162872 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 41 BXGD003998 Citrullinemia C0175683 E72.23 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 7 BXGD003999 Dubowitz syndrome C0175691 Q87.19 disease C23;C16;C17;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:7;DOID:225;DOID:150 genetic disease; disease of anatomical entity; syndrome; disease of mental health T047 Disease or Syndrome 12 BXGD004000 Johanson-Blizzard syndrome C0175692 disease C23;C16;C06;C17;C10;C19;F03;C09;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 7 BXGD004001 Russell-Silver syndrome C0175693 Q87.19 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225;DOID:150 genetic disease; disease of anatomical entity; syndrome; disease of mental health T047 Disease or Syndrome 104 BXGD004002 Smith-Lemli-Opitz Syndrome C0175694 E78.72 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 30 BXGD004003 Sotos' syndrome C0175695 Q87.3 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 25 BXGD004004 Van der Woude syndrome C0175697 Q38.0 disease C23;C16;C04;C05;C07 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 113 BXGD004005 Saethre-Chotzen Syndrome C0175699 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 30 BXGD004006 Multiple synostosis syndrome C0175700 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD004007 Aarskog syndrome C0175701 Q87.19 disease C16;C05;C19;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225;DOID:150 genetic disease; disease of anatomical entity; syndrome; disease of mental health T047 Disease or Syndrome 42 BXGD004008 Williams Syndrome C0175702 Q93.82 disease C16;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 104 BXGD004009 Thrombocytopenia-Absent Radius Syndrome C0175703 Q87.2 disease C16;C05;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 12 BXGD004010 LEOPARD Syndrome C0175704 disease C16;C17;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 47 BXGD004011 Asplenia Syndrome C0175707 disease C16;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome HP:0001507 Growth abnormality DOID:630;DOID:0080015 genetic disease; physical disorder T047 Disease or Syndrome 13 BXGD004012 Chronic rheumatic heart disease C0175708 I05-I09 disease C01;C14 Infections; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD004013 Centronuclear myopathy C0175709 G71.228 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 40 BXGD004014 Aicardi's syndrome C0175713 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 7 BXGD004015 Agenesis of corpus callosum C0175754 Q04.0 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 615 BXGD004016 Congenital absent nipple C0175755 Q83.2 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 7 BXGD004017 Larsen syndrome C0175778 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 6 BXGD004018 Cold Hemagglutinin Disease C0175816 D59.12 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD004019 Bone Mineral Density Test C0177804 phenotype Diagnostic Procedure T060 Diagnostic Procedure 54 BXGD004020 Intestinal infectious disease (disorder) C0178238 A00-A09 group C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 34 BXGD004021 Inflammatory disease of the central nervous system C0178264 G00-G09 group C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 36 BXGD004022 Disorder of pulmonary circulation C0178272 I28.9 group C08;C14 Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD004023 Skin and subcutaneous tissue disorders C0178298 L00-L99 group C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD004024 Hypoplastic anemia C0178416 D61.9 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD004025 Anhedonia C0178417 R45.84 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 93 BXGD004026 Fibroadenoma of breast C0178421 D24 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0002664;HP:0000769 Neoplasm; Abnormality of the breast DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD004027 Cramp in foot C0178422 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD004028 Oligohydramnios sequence C0178426 Q60.6 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD004029 Autoimmune thyroid disease C0178468 disease C20;C19 Immune System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 107 BXGD004030 Cerebral Hypoxia-Ischemia C0178540 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD004031 Gammopathy C0178650 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD004032 Glomerulosclerosis (disorder) C0178664 disease C13;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 221 BXGD004033 Hypertrophic osteoarthropathy C0178703 disease C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD004034 Orofacial Pain C0178782 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 40 BXGD004035 Reactive Hyperemia C0178824 phenotype C14 Cardiovascular Diseases Pathologic Function T046 Pathologic Function 13 BXGD004036 reproductive system disorder C0178829 group C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 3 BXGD004037 Tumor Progression C0178874 phenotype C23 Pathological Conditions, Signs and Symptoms Neoplastic Process T191 Neoplastic Process 3865 BXGD004038 Urinary tract obstruction C0178879 N13.9 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 27 BXGD004039 Acute onset pain C0184567 R52 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 53 BXGD004040 Neutrophil count (procedure) C0200633 phenotype Laboratory Procedure T059 Laboratory Procedure 145 BXGD004041 Lymphocyte Count measurement C0200635 phenotype Laboratory Procedure T059 Laboratory Procedure 338 BXGD004042 Monocyte count procedure C0200637 phenotype Laboratory Procedure T059 Laboratory Procedure 139 BXGD004043 Eosinophil count procedure C0200638 phenotype Laboratory Procedure T059 Laboratory Procedure 610 BXGD004044 Blood basophil count (lab test) C0200641 phenotype Laboratory Procedure T059 Laboratory Procedure 272 BXGD004045 Platelet mean volume determination (procedure) C0200665 phenotype Laboratory Procedure T059 Laboratory Procedure 223 BXGD004046 Fetal hemoglobin determination C0200695 phenotype Laboratory Procedure T059 Laboratory Procedure 40 BXGD004047 Antibody measurement (procedure) C0201278 group Laboratory Procedure T059 Laboratory Procedure 5 BXGD004048 Thyroglobulin antibody measurement C0201512 phenotype Laboratory Procedure T059 Laboratory Procedure 10 BXGD004049 Antiphospholipid antibodies measurement C0201534 phenotype Laboratory Procedure T059 Laboratory Procedure 6 BXGD004050 Prostate specific antigen measurement C0201544 phenotype Laboratory Procedure T059 Laboratory Procedure 25 BXGD004051 C-reactive protein measurement C0201657 phenotype Laboratory Procedure T059 Laboratory Procedure 135 BXGD004052 Alanine aminotransferase measurement C0201836 phenotype Laboratory Procedure T059 Laboratory Procedure 41 BXGD004053 Alkaline phosphatase measurement C0201850 phenotype Laboratory Procedure T059 Laboratory Procedure 42 BXGD004054 Amino acids measurement C0201874 group Laboratory Procedure T059 Laboratory Procedure 53 BXGD004055 Arylsulfatase B measurement C0201896 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD004056 Aspartate aminotransferase measurement C0201899 phenotype Laboratory Procedure T059 Laboratory Procedure 57 BXGD004057 Beta-2-microglobulin measurement C0201910 phenotype Laboratory Procedure T059 Laboratory Procedure 6 BXGD004058 Calcium measurement C0201925 phenotype Laboratory Procedure T059 Laboratory Procedure 23 BXGD004059 Cholesterol measurement test C0201950 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD004060 Chloride measurement C0201952 phenotype Laboratory Procedure T059 Laboratory Procedure 16 BXGD004061 Cortisol Measurement C0201968 phenotype Laboratory Procedure T059 Laboratory Procedure 12 BXGD004062 Creatine kinase measurement C0201973 phenotype Laboratory Procedure T059 Laboratory Procedure 29 BXGD004063 Creatinine measurement, serum (procedure) C0201976 phenotype Laboratory Procedure T059 Laboratory Procedure 124 BXGD004064 Dehydroepiandrosterone sulfate measurement (procedure) C0201983 phenotype Laboratory Procedure T059 Laboratory Procedure 18 BXGD004065 Follicle stimulating hormone measurement C0202022 phenotype Laboratory Procedure T059 Laboratory Procedure 9 BXGD004066 Gamma glutamyl transferase measurement C0202035 phenotype Laboratory Procedure T059 Laboratory Procedure 5 BXGD004067 Homovanillic acid measurement C0202071 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD004068 17 Hydroxyprogesterone measurement C0202075 phenotype Laboratory Procedure T059 Laboratory Procedure 7 BXGD004069 Immunoglobulin A measurement C0202083 phenotype Laboratory Procedure T059 Laboratory Procedure 4 BXGD004070 Insulin measurement C0202098 phenotype Laboratory Procedure T059 Laboratory Procedure 15 BXGD004071 Insulin C-peptide measurement C0202100 phenotype Laboratory Procedure T059 Laboratory Procedure 3 BXGD004072 Transferrin measurement C0202105 phenotype Laboratory Procedure T059 Laboratory Procedure 6 BXGD004073 Lactic acid measurement C0202115 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD004074 Low density lipoprotein cholesterol measurement C0202117 phenotype Laboratory Procedure T059 Laboratory Procedure 483 BXGD004075 Luteinizing hormone measurement C0202123 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD004076 Parathyroid hormone measurement C0202159 phenotype Laboratory Procedure T059 Laboratory Procedure 10 BXGD004077 Phosphatidylinositol measurement C0202171 phenotype Laboratory Procedure T059 Laboratory Procedure 4 BXGD004078 blood phenylalanine measurement by Guthrie microbiologic assay C0202174 phenotype Laboratory Procedure T059 Laboratory Procedure 4 BXGD004079 Phospholipid measurement C0202177 phenotype Laboratory Procedure T059 Laboratory Procedure 58 BXGD004080 Phosphorus measurement C0202178 phenotype Laboratory Procedure T059 Laboratory Procedure 11 BXGD004081 Potassium measurement C0202194 phenotype Laboratory Procedure T059 Laboratory Procedure 16 BXGD004082 Protein measurement C0202202 group Laboratory Procedure T059 Laboratory Procedure 75 BXGD004083 Sex hormone binding globulin measurement C0202218 phenotype Laboratory Procedure T059 Laboratory Procedure 11 BXGD004084 Thyroid stimulating hormone measurement C0202230 phenotype Laboratory Procedure T059 Laboratory Procedure 42 BXGD004085 Thyroxine measurement C0202231 phenotype Laboratory Procedure T059 Laboratory Procedure 24 BXGD004086 Triglycerides measurement C0202236 phenotype Laboratory Procedure T059 Laboratory Procedure 563 BXGD004087 Uric acid measurement (procedure) C0202239 phenotype Laboratory Procedure T059 Laboratory Procedure 264 BXGD004088 Vitamin B6 measurement C0202251 phenotype Laboratory Procedure T059 Laboratory Procedure 5 BXGD004089 VITAMIN B12 MEASUREMENT C0202252 phenotype Laboratory Procedure T059 Laboratory Procedure 13 BXGD004090 Platinum measurement C0202455 phenotype Laboratory Procedure T059 Laboratory Procedure 6 BXGD004091 Scab C0205204 disease Acquired Abnormality T020 Acquired Abnormality 24 BXGD004092 Microinvasive tumor C0205622 disease Neoplastic Process T191 Neoplastic Process 13 BXGD004093 Adenocarcinoma, Basal Cell C0205641 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 123 BXGD004094 Adenocarcinoma, Oxyphilic C0205642 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 135 BXGD004095 Carcinoma, Cribriform C0205643 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 117 BXGD004096 Carcinoma, Granular Cell C0205644 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 116 BXGD004097 Adenocarcinoma, Tubular C0205645 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 133 BXGD004098 Adenoma, Basal Cell C0205646 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 49 BXGD004099 Follicular adenoma C0205647 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 183 BXGD004100 Adenoma, Microcystic C0205648 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 45 BXGD004101 Adenoma, Monomorphic C0205649 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 36 BXGD004102 Papillary adenoma C0205650 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 39 BXGD004103 Adenoma, Trabecular C0205651 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 37 BXGD004104 Infections, Arenavirus C0205671 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 12 BXGD004105 Waist-Hip Ratio C0205682 phenotype Organism Attribute T032 Organism Attribute 565 BXGD004106 Carcinoid, Goblet Cell C0205695 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 34 BXGD004107 Anaplastic carcinoma C0205696 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 232 BXGD004108 Carcinoma, Spindle-Cell C0205697 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 218 BXGD004109 Undifferentiated carcinoma C0205698 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 283 BXGD004110 Carcinomatosis C0205699 C80.0 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 186 BXGD004111 Asymmetric Septal Hypertrophy C0205700 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 31 BXGD004112 Alpers Syndrome (disorder) C0205710 G31.81 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 28 BXGD004113 Pelizaeus-Merzbacher Disease C0205711 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 30 BXGD004114 Roussy-Levy Syndrome (disorder) C0205713 G60.0 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 26 BXGD004115 Diabetes, Autoimmune C0205734 disease C18;C20;C19 Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 172 BXGD004116 Familial Atypical Multiple Mole-Melanoma C0205747 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 10 BXGD004117 Dysplastic Nevus C0205748 D22 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process HP:0001574 Abnormality of the integument T191 Neoplastic Process 104 BXGD004118 Myxofibroma C0205766 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 7 BXGD004119 Subependymal Giant Cell Astrocytoma C0205768 disease C04 Neoplasms Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 44 BXGD004120 Myxopapillary ependymoma C0205769 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD004121 Choroid Plexus Papilloma C0205770 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0001574;HP:0000707;HP:0002664 Abnormality of the integument; Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 64 BXGD004122 Histiocytoid hemangioma C0205788 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0001626 Neoplasm; Abnormality of the cardiovascular system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 18 BXGD004123 Hemangioma, Intramuscular C0205789 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD004124 Leiomyosarcoma, Epithelioid C0205815 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD004125 Leiomyosarcoma, Myxoid C0205816 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 14 BXGD004126 Hibernoma C0205822 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 10 BXGD004127 Pleomorphic Lipoma C0205823 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 13 BXGD004128 Liposarcoma, Dedifferentiated C0205824 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 95 BXGD004129 Liposarcoma, Pleomorphic C0205825 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 33 BXGD004130 Medullomyoblastoma C0205833 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 43 BXGD004131 Meningiomas, Multiple C0205834 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 17 BXGD004132 Germ cell tumor C0205851 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 278 BXGD004133 Neoplasms, Embryonal and Mixed C0205852 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 15 BXGD004134 Glandular Neoplasms C0205854 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD004135 General Paralysis C0205858 A52.17 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 12 BXGD004136 Papilloma, Squamous Cell C0205874 disease C04 Neoplasms Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:14566 disease of cellular proliferation T191 Neoplastic Process 16 BXGD004137 Papillomatosis C0205875 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 18 BXGD004138 Infections, Parvovirus C0205882 B34.3 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 12 BXGD004139 pineoblastoma C0205898 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 18 BXGD004140 Anal Fistula C0205929 K60.3 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Acquired Abnormality HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T020 Acquired Abnormality 3 BXGD004141 Sarcoma, Epithelioid C0205944 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 66 BXGD004142 Sarcoma, Spindle Cell C0205945 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 46 BXGD004143 Thymic Carcinoma C0205969 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 82 BXGD004144 HIV Encephalopathy C0206019 disease C01;C20;C10;F03 Infections; Immune System Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 45 BXGD004145 Fatal Familial Insomnia C0206042 A81.83 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 25 BXGD004146 Infections, Calicivirus C0206044 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD004147 Pneumonia, Interstitial C0206061 J84.9 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 66 BXGD004148 Lung Diseases, Interstitial C0206062 J84.9 group C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 319 BXGD004149 Radiation Pneumonitis C0206063 J70.0 disease C08;C26 Respiratory Tract Diseases; Wounds and Injuries Injury or Poisoning T037 Injury or Poisoning 4 BXGD004150 Microvascular Angina C0206064 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 39 BXGD004151 Focal Epithelial Hyperplasia C0206067 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 3 BXGD004152 Hyperandrogenism C0206081 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 108 BXGD004153 Kleine-Levin Syndrome C0206085 G47.13 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 5 BXGD004154 Neuroectodermal Tumors C0206093 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 56 BXGD004155 Neuroectodermal Tumor, Melanotic C0206094 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD004156 Periodontal Attachment Loss C0206114 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD004157 WAGR Syndrome C0206115 disease C16;C04;C13;C11;C12;C10;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 13 BXGD004158 CREST Syndrome C0206138 M34.1 disease C06;C18;C17;C14 Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7;DOID:225 disease of anatomical entity; syndrome T047 Disease or Syndrome 59 BXGD004159 Lichen Planus, Oral C0206139 disease C17;C07 Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 257 BXGD004160 Idiopathic Hypereosinophilic Syndrome C0206141 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 43 BXGD004161 Eosinophilic leukemia C0206142 disease C15 Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 18 BXGD004162 Loeffler's Endocarditis C0206143 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD004163 Stunned Myocardium C0206145 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD004164 Myocardial Stunning C0206146 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD004165 Myopathies, Nemaline C0206157 G71.21 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 47 BXGD004166 Reticulocytosis C0206160 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 40 BXGD004167 Reticulocyte count (procedure) C0206161 phenotype Laboratory Procedure T059 Laboratory Procedure 234 BXGD004168 Diabetic Foot C0206172 disease C17;C19;C14 Skin and Connective Tissue Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 39 BXGD004169 Cytomegalovirus Retinitis C0206178 disease C01;C11 Infections; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD004170 Ki-1+ Anaplastic Large Cell Lymphoma C0206180 C84.6 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process HP:0002664;HP:0001871 Neoplasm; Abnormality of blood and blood-forming tissues T191 Neoplastic Process 300 BXGD004171 Lymphomatoid Papulosis C0206182 C86.6 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 34 BXGD004172 Leukoplakia, Hairy C0206186 K13.3 disease C23;C04;C01;C07 Pathological Conditions, Signs and Symptoms; Neoplasms; Infections; Stomatognathic Diseases Neoplastic Process HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T191 Neoplastic Process 6 BXGD004173 Amyloid Neuropathies, Familial C0206245 E85.1 group C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD004174 Amyloid Neuropathies C0206247 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD004175 Canavan Disease C0206307 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 12 BXGD004176 Exfoliation Syndrome C0206368 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 94 BXGD004177 Splenosis C0206369 disease C15;C26 Hemic and Lymphatic Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 3 BXGD004178 Tympanic Membrane Perforation C0206504 H72 disease C09;C26 Otorhinolaryngologic Diseases; Wounds and Injuries Injury or Poisoning T037 Injury or Poisoning 4 BXGD004179 Tuberculosis, Drug-Resistant C0206525 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 37 BXGD004180 Tuberculosis, Multidrug-Resistant C0206526 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 67 BXGD004181 Endolymphatic Hydrops C0206586 H81.0 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD004182 Circovirus Infections C0206602 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD004183 Arterivirus Infections C0206604 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD004184 Flavivirus Infections C0206608 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 30 BXGD004185 Pneumovirus Infections C0206615 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD004186 Cardiovirus Infections C0206617 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 10 BXGD004187 Lymphangioma, Cystic C0206620 disease C04 Neoplasms Neoplastic Process HP:0000152 Abnormality of head or neck DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 43 BXGD004188 Adenomyoma C0206622 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 6 BXGD004189 Adenosquamous carcinoma C0206623 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 101 BXGD004190 Hepatoblastoma C0206624 C22.2 disease C04 Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 452 BXGD004191 Malignant Mixed Tumor C0206625 phenotype C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 3 BXGD004192 Mixed Tumor, Mullerian C0206627 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 14 BXGD004193 Mesoblastic Nephroma C0206628 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 17 BXGD004194 Pulmonary Blastoma C0206629 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD004195 Endometrial Stromal Sarcoma C0206630 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 75 BXGD004196 Lipomatous neoplasm C0206631 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0003549 Neoplasm; Abnormality of connective tissue DOID:14566 disease of cellular proliferation T191 Neoplastic Process 14 BXGD004197 Angiolipoma C0206632 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 3 BXGD004198 Angiomyolipoma C0206633 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 53 BXGD004199 Liposarcoma, Myxoid C0206634 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0003549 Neoplasm; Abnormality of connective tissue DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 79 BXGD004200 Myelolipoma C0206635 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 16 BXGD004201 Chondromatosis C0206636 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD004202 Mesenchymal Chondrosarcoma C0206637 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 19 BXGD004203 Giant Cell Tumor of Bone C0206638 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0000924 Neoplasm; Abnormality of the skeletal system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 113 BXGD004204 Neoplasms, Bone Tissue C0206639 group C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD004205 Ossifying Fibroma C0206640 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 19 BXGD004206 Osteochondromatosis C0206641 disease C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:630;DOID:7 genetic disease; disease of anatomical entity T191 Neoplastic Process 10 BXGD004207 Parosteal Osteosarcoma C0206642 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD004208 Neoplasms, Fibrous Tissue C0206643 group C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD004209 Histiocytoma, Benign Fibrous C0206644 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 23 BXGD004210 Desmoplastic fibroma C0206645 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 10 BXGD004211 Fibromatosis, Abdominal C0206646 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD004212 Dermatofibrosarcoma C0206647 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 33 BXGD004213 Myofibromatosis C0206648 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 19 BXGD004214 Fibroadenoma C0206650 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 151 BXGD004215 Clear Cell Sarcoma of Soft Tissue C0206651 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 51 BXGD004216 Angiomyoma C0206653 disease C04 Neoplasms Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 12 BXGD004217 Leiomyomatosis C0206654 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 21 BXGD004218 Alveolar rhabdomyosarcoma C0206655 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0003011 Neoplasm; Abnormality of the musculature DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 115 BXGD004219 Embryonal Rhabdomyosarcoma C0206656 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0003011 Neoplasm; Abnormality of the musculature DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 121 BXGD004220 Alveolar Soft Part Sarcoma C0206657 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 61 BXGD004221 Smooth Muscle Tumor C0206658 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 36 BXGD004222 Embryonal Carcinoma C0206659 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 165 BXGD004223 Germinoma C0206660 disease C04 Neoplasms Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:14566 disease of cellular proliferation T191 Neoplastic Process 38 BXGD004224 Gonadoblastoma C0206661 disease C16;C04;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:14566 disease of cellular proliferation T191 Neoplastic Process 34 BXGD004225 Neuroectodermal Tumor, Primitive C0206663 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 184 BXGD004226 Teratocarcinoma C0206664 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 141 BXGD004227 Trophoblastic Tumor, Placental Site C0206666 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 18 BXGD004228 Adrenal Cortical Adenoma C0206667 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0002664 Abnormality of the endocrine system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 156 BXGD004229 Hepatocellular Adenoma C0206669 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T191 Neoplastic Process 114 BXGD004230 Hidrocystoma C0206672 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD004231 Syringoma C0206673 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD004232 Adenoma, Villous C0206674 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 20 BXGD004233 Adenomatoid Tumor C0206675 D19.9 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 14 BXGD004234 Adenomatous Polyps C0206677 D28 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 120 BXGD004235 Mesothelioma, Cystic C0206680 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD004236 Adenocarcinoma, Clear Cell C0206681 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 117 BXGD004237 Follicular thyroid carcinoma C0206682 disease C04 Neoplasms Neoplastic Process HP:0000818;HP:0002664 Abnormality of the endocrine system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 293 BXGD004238 Papillary and follicular adenocarcinoma C0206683 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD004239 Sebaceous Adenocarcinoma C0206684 disease C04 Neoplasms Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 41 BXGD004240 Acinar Cell Carcinoma C0206685 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 65 BXGD004241 Adrenocortical carcinoma C0206686 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0002664 Abnormality of the endocrine system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 281 BXGD004242 Carcinoma, Endometrioid C0206687 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 223 BXGD004243 Carcinoma, Lobular C0206692 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 66 BXGD004244 Medullary carcinoma C0206693 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 81 BXGD004245 Mucoepidermoid Carcinoma C0206694 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 153 BXGD004246 Carcinoma, Neuroendocrine C0206695 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 182 BXGD004247 Carcinoma, Signet Ring Cell C0206696 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 70 BXGD004248 Cholangiocarcinoma C0206698 C22.1 disease C04 Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 877 BXGD004249 Cystadenocarcinoma, Mucinous C0206699 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 13 BXGD004250 Cystadenocarcinoma, Papillary C0206700 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 5 BXGD004251 Cystadenocarcinoma, Serous C0206701 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 110 BXGD004252 Klatskin Tumor C0206702 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 50 BXGD004253 Carcinoma, Giant Cell C0206703 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 21 BXGD004254 Carcinoma, Large Cell C0206704 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 90 BXGD004255 Verrucous carcinoma C0206706 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 49 BXGD004256 Cervical Intraepithelial Neoplasia C0206708 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 398 BXGD004257 Cystadenoma, Serous C0206709 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 18 BXGD004258 Basal Cell Neoplasm C0206710 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 58 BXGD004259 Pilomatrixoma C0206711 disease C04 Neoplasms Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 24 BXGD004260 Papilloma, Intraductal C0206713 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD004261 Neoplasms, Neuroepithelial C0206715 group C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 46 BXGD004262 Ganglioglioma C0206716 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 91 BXGD004263 Olfactory Neuroblastoma C0206717 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 38 BXGD004264 Ganglioneuroblastoma C0206718 disease C04 Neoplasms Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 57 BXGD004265 Central Neurocytoma C0206719 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 16 BXGD004266 Squamous Cell Neoplasms C0206720 group C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 22 BXGD004267 Inverted Papilloma C0206721 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 51 BXGD004268 Sertoli-Leydig Cell Tumor C0206723 disease C04;C13;C12;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD004269 Sex Cord-Stromal Tumor C0206724 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 28 BXGD004270 Subependymal Glioma C0206725 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD004271 gliosarcoma C0206726 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 80 BXGD004272 Nerve Sheath Tumors C0206727 group C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 31 BXGD004273 Plexiform Neurofibroma C0206728 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0001574;HP:0000707;HP:0002664 Abnormality of the integument; Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 46 BXGD004274 Neurofibrosarcoma C0206729 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 20 BXGD004275 Neurothekeoma C0206730 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD004276 Angiofibroma C0206731 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm T191 Neoplastic Process 45 BXGD004277 Epithelioid hemangioendothelioma C0206732 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 36 BXGD004278 Strawberry nevus of skin C0206733 Q82.5 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0001626 Neoplasm; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T191 Neoplastic Process 112 BXGD004279 Hemangioblastoma C0206734 disease C04 Neoplasms Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 79 BXGD004280 Melanoma, Amelanotic C0206735 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 19 BXGD004281 Nevus, Blue C0206736 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 17 BXGD004282 Nevus, Intradermal C0206737 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD004283 Epithelioid and spindle cell nevus C0206739 disease C04 Neoplasms Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 21 BXGD004284 Calcifying Odontogenic Cyst C0206740 disease C04;C05;C07 Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality T190 Anatomical Abnormality 15 BXGD004285 Rhabdoid Tumor C0206743 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 103 BXGD004286 T-Lymphocytopenia, Idiopathic CD4-Positive C0206744 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD004287 Coronavirus Infections C0206750 B34.2 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 33 BXGD004288 Alphavirus Infections C0206752 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 19 BXGD004289 Neuroendocrine Tumors C0206754 D3A.8 group C04 Neoplasms Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 491 BXGD004290 Limb Deformities, Congenital C0206762 Q74.9 group C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 59 BXGD004291 Nevi and Melanomas C0206769 group C04 Neoplasms Neoplastic Process T191 Neoplastic Process 30 BXGD004292 Adult Hodgkin Lymphoma C0220597 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 399 BXGD004293 Childhood Brain Neoplasm C0220603 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 44 BXGD004294 Adult Non-Hodgkin Lymphoma C0220605 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 370 BXGD004295 Childhood Rhabdomyosarcoma C0220611 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 517 BXGD004296 Childhood Non-Hodgkin Lymphoma C0220612 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 371 BXGD004297 Adult Soft Tissue Sarcoma C0220613 disease Neoplastic Process T191 Neoplastic Process 162 BXGD004298 Adult Acute Myeloblastic Leukemia C0220615 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 160 BXGD004299 Gastrointestinal Carcinoid Tumor C0220620 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 323 BXGD004300 Childhood Acute Myeloid Leukemia C0220621 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 215 BXGD004301 Adult Brain Neoplasm C0220624 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 15 BXGD004302 Adult Liver Carcinoma C0220630 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 1377 BXGD004303 Uveal melanoma C0220633 disease C04;C11 Neoplasms; Eye Diseases Neoplastic Process HP:0002664;HP:0000478 Neoplasm; Abnormality of the eye DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 376 BXGD004304 Malignant neoplasm of salivary gland C0220636 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process HP:0002664;HP:0000152 Neoplasm; Abnormality of head or neck DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 91 BXGD004305 Lip and Oral Cavity Carcinoma C0220641 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 734 BXGD004306 Childhood Hodgkin Lymphoma C0220644 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 399 BXGD004307 Childhood Soft Tissue Sarcoma C0220645 disease Neoplastic Process T191 Neoplastic Process 166 BXGD004308 Carcinoma of unknown primary C0220647 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD004309 Renal Pelvis and Ureter Urothelial Carcinoma C0220648 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD004310 Metastatic malignant neoplasm to brain C0220650 C79.31 disease C23;C04;C10 Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 392 BXGD004311 Meningeal Carcinomatosis C0220654 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 14 BXGD004312 Malignant ascites C0220656 R18.0 disease C23;C06;C04 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 86 BXGD004313 Pfeiffer Syndrome C0220658 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 8 BXGD004314 Acrodysostosis C0220659 disease C23;C16;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 31 BXGD004315 BRACHYDACTYLY, TYPE D C0220664 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 8 BXGD004316 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA C0220666 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD004317 Congenital contractural arachnodactyly C0220668 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 559 BXGD004318 Familial benign neonatal epilepsy C0220669 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 19 BXGD004319 Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified C0220679 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD004320 Achondrogenesis type 2 C0220685 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 3 BXGD004321 KBG syndrome C0220687 disease C23;C16;C05;C10;F03;C07;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 3 BXGD004322 Microcephaly autosomal dominant C0220693 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD004323 Neurofibromatosis, type 4, of Riccardi C0220695 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome HP:0001574;HP:0000707;HP:0002664 Abnormality of the integument; Abnormality of the nervous system; Neoplasm DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD004324 POLYDACTYLY, POSTAXIAL C0220697 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:0080015 physical disorder T047 Disease or Syndrome 61 BXGD004325 RETINITIS PIGMENTOSA 1 C0220701 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 32 BXGD004326 SCHIZOPHRENIA 1 (disorder) C0220702 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:630;DOID:150 genetic disease; disease of mental health T048 Mental or Behavioral Dysfunction 5 BXGD004327 Shprintzen syndrome C0220704 Q93.81 disease C16;C05;C19;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 46 BXGD004328 VATER Association C0220708 Q87.2 disease C16;C06;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 12 BXGD004329 Medium-chain acyl-coenzyme A dehydrogenase deficiency C0220710 E71.311 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630;DOID:225 disease of metabolism; genetic disease; syndrome T047 Disease or Syndrome 15 BXGD004330 Long chain acyl-CoA dehydrogenase deficiency C0220711 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD004331 Cerebrooculofacioskeletal Syndrome 1 C0220722 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 7 BXGD004332 CONSTRICTING BANDS, CONGENITAL C0220724 Q79.8 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality DOID:0080015 physical disorder T019 Congenital Abnormality 16 BXGD004333 Diastrophic dysplasia C0220726 Q77.5 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 56 BXGD004334 Childhood hypophosphatasia (disorder) C0220743 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality DOID:630 genetic disease T047;T019 Disease or Syndrome; Congenital Abnormality 1 BXGD004335 Multiple gastrointestinal atresias (disorder) C0220744 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality DOID:630 genetic disease T019 Congenital Abnormality 5 BXGD004336 Cartilage-hair hypoplasia C0220748 disease C16;C06;C05;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome; Congenital Abnormality DOID:630 genetic disease T047;T019 Disease or Syndrome; Congenital Abnormality 49 BXGD004337 Biotinidase Deficiency C0220754 D81.810 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 6 BXGD004338 Niemann-Pick Disease, Type C C0220756 E75.242 disease C16;C18;C10;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 201 BXGD004339 Dizygotic twins (disorder) C0220761 phenotype Finding T033 Finding 1 BXGD004340 Weaver-Like Syndrome C0220765 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 3 BXGD004341 Congenital hypoplasia of adrenal gland C0220766 disease C16;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality HP:0000818 Abnormality of the endocrine system T019 Congenital Abnormality 45 BXGD004342 Craniofrontonasal dysplasia C0220767 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 8 BXGD004343 FG syndrome C0220769 disease C23;C16;C06;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 19 BXGD004344 RUSSELL-SILVER SYNDROME, X-LINKED C0220775 disease C23;C16;C17;C05 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 4 BXGD004345 Endotracheal aspiration C0220787 phenotype Pathologic Function T046 Pathologic Function 13 BXGD004346 Congenital defects C0220810 group Congenital Abnormality T019 Congenital Abnormality 126 BXGD004347 Lightheadedness C0220870 R42 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD004348 Metabolic acidosis C0220981 E87.2 phenotype C18 Nutritional and Metabolic Diseases Pathologic Function HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667 disease of metabolism T046 Pathologic Function 85 BXGD004349 Ketoacidosis C0220982 phenotype C18 Nutritional and Metabolic Diseases Pathologic Function HP:0001939 Abnormality of metabolism/homeostasis T046 Pathologic Function 1 BXGD004350 Metabolic alkalosis C0220983 E87.3 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 27 BXGD004351 Hereditary orotic aciduria C0220987 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD004352 Xanthinuria C0220988 E79.8 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD004353 Acquired partial lipodystrophy C0220989 disease C18;C17 Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD004354 Rotor Syndrome C0220991 E80.6 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD004355 Histidinemia C0220992 E70.41 phenotype C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD004356 Cystathioninuria C0220993 E72.19 phenotype C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD004357 Hyperammonemia C0220994 E72.20 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 102 BXGD004358 Infantile scurvy C0220996 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD004359 Hypothalamic hypothyroidism C0220998 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T047 Disease or Syndrome 5 BXGD004360 Hyperparathyroidism, Primary C0221002 E21.0 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 115 BXGD004361 Mauriac's syndrome C0221005 disease C23;C16;C06;C18;C05;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD004362 Malignant Atrophic Papulosis C0221011 disease C17;C14 Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD004363 Mastocytosis, Systemic C0221013 D47.02 disease C04;C20 Neoplasms; Immune System Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 94 BXGD004364 Reactive systemic amyloidosis C0221014 disease C18;C17 Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 41 BXGD004365 Red blood cell disorder C0221016 group C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD004366 Hereditary sideroblastic anemia C0221018 D64.0 disease C18;C15 Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD004367 Sickle cell-beta-thalassemia C0221019 D57.4 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD004368 Microangiopathic hemolytic anemia C0221021 D59.4 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 31 BXGD004369 Cyclic neutropenia C0221023 D70.4 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 52 BXGD004370 Kasabach-Merritt syndrome C0221025 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD004371 X-linked agammaglobulinemia C0221026 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 68 BXGD004372 Neonatal thrombocytopenia (disorder) C0221028 disease C15;C14 Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD004373 Hyperviscosity syndrome C0221030 disease C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD004374 Familial generalized lipodystrophy C0221032 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome HP:0003549 Abnormality of connective tissue T047 Disease or Syndrome 49 BXGD004375 Trisomy X syndrome C0221033 Q97.0 disease C23;C16;C13;C12;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD004376 Acrodermatitis enteropathica C0221036 E83.2 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 8 BXGD004377 Liddle Syndrome C0221043 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 19 BXGD004378 High output heart failure C0221045 I50.83 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD004379 Bradycardia-tachycardia syndrome C0221047 I49.5 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD004380 Chronic berylliosis C0221052 disease C23;C01;C08;C24;C26 Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Occupational Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 26 BXGD004381 Welander Distal Myopathy C0221054 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD004382 Paramyotonia Congenita (disorder) C0221055 G71.19 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 17 BXGD004383 Adult type dermatomyositis C0221056 M33.1 disease C17;C05;C10 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 218 BXGD004384 Mobius Syndrome C0221060 Q87.0 disease C16;C10;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 28 BXGD004385 Behr syndrome C0221061 disease C23;C11;C10;F03;C09;F01 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 2 BXGD004386 Subacute Combined Degeneration C0221065 G32.0 disease C23;C18;C10 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD004387 Anterior Spinal Artery Syndrome C0221069 G83.82 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7;DOID:225 disease of anatomical entity; syndrome T047 Disease or Syndrome 1 BXGD004388 Depression, Postpartum C0221074 F53.0 disease C13;F03 Female Urogenital Diseases and Pregnancy Complications; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 54 BXGD004389 Hangover from any Alcohol or Other Drugs substance C0221100 phenotype Sign or Symptom T184 Sign or Symptom 14 BXGD004390 Alkalemia C0221106 disease Disease or Syndrome T047 Disease or Syndrome 38 BXGD004391 Swallowing painful C0221150 phenotype C23;C06;C09 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Otorhinolaryngologic Diseases Sign or Symptom HP:0025031 Abnormality of the digestive system T184 Sign or Symptom 2 BXGD004392 Obstipation C0221152 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD004393 Paroxysmal hypertension C0221154 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD004394 Systolic hypertension C0221155 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD004395 Motor Disorders C0221163 group F03 Mental Disorders Disease or Syndrome T047 Disease or Syndrome 25 BXGD004396 Diplegia C0221165 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD004397 Paraparesis C0221166 G82.2 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T184 Sign or Symptom 31 BXGD004398 Podagra C0221168 M10 disease C16;C18;C05;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Mental Disorders Disease or Syndrome HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD004399 Hemiballismus C0221169 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 9 BXGD004400 Muscular stiffness C0221170 phenotype C10 Nervous System Diseases Sign or Symptom HP:0003011 Abnormality of the musculature T184 Sign or Symptom 92 BXGD004401 Chordee C0221182 disease C12 Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T019 Congenital Abnormality 11 BXGD004402 Bitemporal Hemianopia C0221184 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 9 BXGD004403 Abnormal palmar creases C0221199 Q82.8 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 5 BXGD004404 Urticaria due to cold C0221207 disease C17;C20;C26 Skin and Connective Tissue Diseases; Immune System Diseases; Wounds and Injuries Disease or Syndrome HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system T047 Disease or Syndrome 4 BXGD004405 Pelvic kidney C0221209 disease Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 15 BXGD004406 Congenital malrotation of intestine C0221210 disease C23;C16;C06 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality HP:0025031 Abnormality of the digestive system T019 Congenital Abnormality 77 BXGD004407 Vascular ring C0221214 Q25.45 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 8 BXGD004408 Neck webbing C0221217 Q18.3 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 78 BXGD004409 Fordyce's disease C0221218 disease C16;C06;C17;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Skin and Connective Tissue Diseases; Respiratory Tract Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 1 BXGD004410 Ectopic pancreas C0221219 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 4 BXGD004411 Centriacinar Emphysema C0221227 J43.2 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD004412 Comedone C0221228 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 53 BXGD004413 Welts C0221232 phenotype C23;C17;C20 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases Sign or Symptom T184 Sign or Symptom 53 BXGD004414 Angular cheilitis C0221237 K13.0 disease C23;C01;C17;C07 Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD004415 Mesangial proliferative glomerulonephritis C0221238 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 37 BXGD004416 Rapidly progressive glomerulonephritis C0221239 N01 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 19 BXGD004417 Necrolytic Migratory Erythema C0221243 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system T047 Disease or Syndrome 2 BXGD004418 Seborrheic dermatitis of scalp C0221244 L21.0 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD004419 Fissure in skin C0221245 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 3 BXGD004420 Tophus C0221248 disease C16;C18;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality T020 Acquired Abnormality 14 BXGD004421 Eruptive xanthoma C0221252 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 4 BXGD004422 Xanthoma tendinosum C0221253 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001574;HP:0000924 Abnormality of the integument; Abnormality of the skeletal system T047 Disease or Syndrome 15 BXGD004423 Trichiasis C0221259 disease C11 Eye Diseases Disease or Syndrome HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T047 Disease or Syndrome 12 BXGD004424 Dystrophia unguium C0221260 L60.3 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 81 BXGD004425 Koilonychia C0221261 phenotype C17 Skin and Connective Tissue Diseases Sign or Symptom HP:0001574 Abnormality of the integument T184 Sign or Symptom 14 BXGD004426 Poliosis C0221262 L67.1 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 5 BXGD004427 Cafe-au-Lait Spots C0221263 L81.3 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 74 BXGD004428 Colloid goiter C0221268 E04.0 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD004429 Pseudolymphoma C0221269 disease C15 Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 58 BXGD004430 Acanthosis C0221270 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001574 Abnormality of the integument T033 Finding 37 BXGD004431 Elastosis perforans serpiginosa C0221271 L87.2 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 66 BXGD004432 Juvenile polyp C0221273 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 16 BXGD004433 Relative erythrocytosis C0221276 D75.1 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD004434 Atypical lymphocyte C0221277 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 13 BXGD004435 Anisocytosis C0221278 R71.8 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 16 BXGD004436 Poikilocytosis C0221281 R71.8 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 14 BXGD004437 Combined Hepatocellular Carcinoma and Cholangiocarcinoma C0221287 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 11 BXGD004438 Synovioma, benign C0221289 disease C04 Neoplasms Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 2 BXGD004439 Chondromyxoid fibroma C0221290 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 12 BXGD004440 Basophilic leukemia C0221292 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 32 BXGD004441 Hypouricemia C0221333 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 14 BXGD004442 Acrocyanosis C0221347 I73.89 phenotype C23;C17;C08;C14 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome HP:0001574;HP:0002086 Abnormality of the integument; Abnormality of the respiratory system T047 Disease or Syndrome 25 BXGD004443 Hereditary lymphedema and yellow nails C0221348 L60.5 disease C23;C16;C17 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:225 disease of anatomical entity; syndrome T047 Disease or Syndrome 4 BXGD004444 Syndactyly of fingers C0221352 Q70.1 disease C16;C13;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 171 BXGD004445 Horseshoe Kidney C0221353 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 51 BXGD004446 Frontal bossing C0221354 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 321 BXGD004447 Macrocephaly C0221355 Q75.3 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 367 BXGD004448 Brachycephaly C0221356 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 186 BXGD004449 Brachydactyly C0221357 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 325 BXGD004450 Long narrow head C0221358 Q67.2 disease Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 154 BXGD004451 Bifid nose C0221363 disease C08;C09 Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 9 BXGD004452 Double ureter C0221365 Q62.5 disease Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 34 BXGD004453 Acquired Camptodactyly C0221369 disease Acquired Abnormality T020 Acquired Abnormality 120 BXGD004454 Claw hand C0221373 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 63 BXGD004455 Hydrosalpinx (disease) C0221376 N70.1 disease C13;C01 Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD004456 Melanosis coli C0221391 disease C23;C06;C17 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 22 BXGD004457 Atrophic Vaginitis C0221392 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD004458 Pituitary cachexia C0221405 E23.0 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 8 BXGD004459 Pituitary-dependent Cushing's disease C0221406 E24.0 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 115 BXGD004460 Anemia, hereditary spherocytic hemolytic C0221409 disease C23;C16;C15 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD004461 Melanoderma (disorder) C0221436 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 2 BXGD004462 Vitamin D-dependent rickets C0221468 E55.0 disease C16;C18;C13;C05;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD004463 Blindness, Hysterical C0221473 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD004464 Recurrent depression C0221480 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 19 BXGD004465 Effects of heat C0221500 phenotype Disease or Syndrome T047 Disease or Syndrome 13 BXGD004466 Lesion of brain C0221505 group Disease or Syndrome T047 Disease or Syndrome 188 BXGD004467 Proximal muscle weakness C0221629 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 112 BXGD004468 Intestinal carcinoma C0221715 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 7 BXGD004469 Bronchial Obstruction C0221725 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD004470 Pain in esophagus (finding) C0221727 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD004471 Depression suicidal C0221745 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD004472 alpha 1-Antitrypsin Deficiency C0221757 E88.01 disease C23;C16;C06;C08 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 73 BXGD004473 Brachial Plexus Neuritis C0221759 G54.5 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD004474 brain cyst C0221760 disease Disease or Syndrome T047 Disease or Syndrome 18 BXGD004475 Chronic cystitis C0221763 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD004476 Chronic psychosis C0221764 disease C23;F03 Pathological Conditions, Signs and Symptoms; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD004477 Chronic schizophrenia C0221765 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 48 BXGD004478 Diastasis recti C0221766 disease C05;C26 Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome HP:0025031;HP:0003011 Abnormality of the digestive system; Abnormality of the musculature T047 Disease or Syndrome 22 BXGD004479 Hyperamylasemia C0221773 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 14 BXGD004480 Lumbar disc disease C0221775 disease C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 49 BXGD004481 Oral pain C0221776 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 11 BXGD004482 Nontoxic goiter C0221777 E04.9 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD004483 Pain in wrist C0221785 M25.53 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 1 BXGD004484 Retinal fold (finding) C0229197 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 5 BXGD004485 Fatigability C0231230 phenotype Sign or Symptom T184 Sign or Symptom 29 BXGD004486 Early complication C0231243 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD004487 Failure to gain weight C0231246 R62.51 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001507 Growth abnormality T033 Finding 1 BXGD004488 Increased body mass index C0231254 phenotype Finding HP:0001507 Growth abnormality T033 Finding 4 BXGD004489 Decreased body mass index C0231255 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001507 Growth abnormality T033 Finding 3 BXGD004490 Intolerant of heat C0231274 phenotype Pathologic Function HP:0001939 Abnormality of metabolism/homeostasis T046 Pathologic Function 19 BXGD004491 Jet Lag Syndrome C0231311 G47.25 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 17 BXGD004492 Premature aging syndrome C0231341 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 136 BXGD004493 Hyperextension C0231451 phenotype Sign or Symptom T184 Sign or Symptom 4 BXGD004494 Abnormal posture C0231471 R29.3 phenotype C10 Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 13 BXGD004495 Gegenhalten C0231519 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding T033 Finding 5 BXGD004496 Myalgia C0231528 M79.1 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom HP:0025142 Constitutional symptom DOID:7 disease of anatomical entity T184 Sign or Symptom 226 BXGD004497 Tenalgia C0231529 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD004498 Muscle fibrillation C0231531 phenotype C10 Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 8 BXGD004499 Osteoid formation disorder C0231554 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD004500 Abnormal bone formation C0231557 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Acquired Abnormality T020 Acquired Abnormality 12 BXGD004501 Joint function disorder C0231586 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD004502 Beevor's sign C0231616 phenotype Sign or Symptom HP:0003011 Abnormality of the musculature T184 Sign or Symptom 5 BXGD004503 Catch - Finding of sensory dimension of pain C0231617 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 8 BXGD004504 Corkscrewing C0231618 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD004505 Wrist-Drop C0231666 M21.339 phenotype C10 Nervous System Diseases Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 2 BXGD004506 Ulnar deviation of the wrist C0231678 phenotype Sign or Symptom HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T184 Sign or Symptom 14 BXGD004507 Ulnar deviation of the fingers C0231679 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 31 BXGD004508 Gait, Unsteady C0231686 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 143 BXGD004509 Spastic gait C0231687 R26.1 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 62 BXGD004510 Gait, Shuffling C0231688 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 28 BXGD004511 Gait, Athetotic C0231689 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 4 BXGD004512 Titubation C0231690 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 5 BXGD004513 Charcot Gait C0231693 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 4 BXGD004514 Gait, Festinating C0231694 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 4 BXGD004515 Cerebellar ataxic gait C0231695 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 4 BXGD004516 Gait, Hemiplegic C0231696 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 4 BXGD004517 Gait, Scissors C0231698 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 12 BXGD004518 Circling gait C0231706 phenotype Sign or Symptom T184 Sign or Symptom 9 BXGD004519 Waddling gait C0231712 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 113 BXGD004520 Knee pain C0231749 M25.56 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 38 BXGD004521 Heel toe gait C0231779 phenotype Sign or Symptom T184 Sign or Symptom 7 BXGD004522 Toeing-in C0231791 phenotype Sign or Symptom HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T184 Sign or Symptom 6 BXGD004523 respiratory abnormalities C0231796 phenotype C08 Respiratory Tract Diseases Sign or Symptom T184 Sign or Symptom 7 BXGD004524 Dyspnea on exertion C0231807 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom HP:0002086 Abnormality of the respiratory system T184 Sign or Symptom 102 BXGD004525 Meningitic respiration C0231813 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD004526 Airway constriction C0231818 phenotype Sign or Symptom T184 Sign or Symptom 8 BXGD004527 Tachypnea C0231835 R06.82 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding HP:0002086 Abnormality of the respiratory system T033 Finding 82 BXGD004528 Nocturnal cough C0231912 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD004529 Nose symptoms C0231918 phenotype Sign or Symptom T184 Sign or Symptom 19 BXGD004530 Pulmonary function C0231921 phenotype Organ or Tissue Function T042 Organ or Tissue Function 41 BXGD004531 Ventilatory defect C0231926 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD004532 Induced apnea C0232066 disease C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD004533 Cardiac shunt C0232180 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 1 BXGD004534 Vagal autonomic bradycardia C0232190 R00.1 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD004535 Reflex bradycardia C0232191 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD004536 Fibrillation C0232197 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 118 BXGD004537 Ventricular escape rhythm C0232216 phenotype Pathologic Function HP:0001626 Abnormality of the cardiovascular system T046 Pathologic Function 7 BXGD004538 Chest pain on exertion C0232288 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD004539 P pulmonale by EKG (finding) C0232308 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 1 BXGD004540 No-Reflow Phenomenon C0232347 phenotype C23 Pathological Conditions, Signs and Symptoms Finding T033 Finding 3 BXGD004541 Florid red complexion (finding) C0232370 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 3 BXGD004542 Decrease in appetite C0232462 phenotype C06;C10;F03 Digestive System Diseases; Nervous System Diseases; Mental Disorders Sign or Symptom HP:0025031 Abnormality of the digestive system T184 Sign or Symptom 62 BXGD004543 Feeding difficulties C0232466 R63.3 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 473 BXGD004544 Increased peristalsis C0232474 R19.2 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 1 BXGD004545 Decreased peristalsis C0232475 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 6 BXGD004546 Abdominal discomfort C0232487 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Sign or Symptom HP:0025031;HP:0025142 Abnormality of the digestive system; Constitutional symptom T184 Sign or Symptom 3 BXGD004547 Abdominal colic C0232488 R10.83 phenotype C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding HP:0025031;HP:0025142 Abnormality of the digestive system; Constitutional symptom T033 Finding 2 BXGD004548 Chronic abdominal pain C0232491 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 9 BXGD004549 Upper abdominal pain C0232492 R10.10 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD004550 Epigastric pain C0232493 R10.13 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 17 BXGD004551 Lower abdominal pain C0232495 R10.30 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD004552 Abdominal tenderness C0232498 R10.819 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 2 BXGD004553 Premature tooth loss C0232513 phenotype C07 Stomatognathic Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 25 BXGD004554 Self-induced vomiting C0232600 disease C23 Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD004555 Retching C0232602 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD004556 Nasal regurgitation C0232608 phenotype Sign or Symptom HP:0025031 Abnormality of the digestive system T184 Sign or Symptom 14 BXGD004557 Hyperactive bowel sounds C0232694 R19.12 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 1 BXGD004558 Rectal sensation C0232717 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD004559 Pale feces (finding) C0232720 phenotype C06 Digestive System Diseases Finding T033 Finding 5 BXGD004560 Rectal tenesmus C0232726 phenotype C06;C10 Digestive System Diseases; Nervous System Diseases Sign or Symptom HP:0025031 Abnormality of the digestive system T184 Sign or Symptom 3 BXGD004561 Decreased liver function C0232744 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 59 BXGD004562 Asterixis C0232766 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 7 BXGD004563 Abnormal gallbladder function C0232769 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 3 BXGD004564 Impairment of urinary concentration C0232831 phenotype C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 5 BXGD004565 Bladder pain C0232849 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 23 BXGD004566 Functional proteinuria C0232865 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD004567 Febrile proteinuria C0232874 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD004568 Primary physiologic amenorrhea C0232939 N91.0 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0000119;HP:0000818 Abnormality of the genitourinary system; Abnormality of the endocrine system T047 Disease or Syndrome 129 BXGD004569 Secondary physiologic amenorrhea C0232940 N91.1 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0000119;HP:0000818 Abnormality of the genitourinary system; Abnormality of the endocrine system T047 Disease or Syndrome 58 BXGD004570 Intermenstrual heavy bleeding C0232943 N92.1 phenotype C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Sign or Symptom HP:0000119;HP:0000818 Abnormality of the genitourinary system; Abnormality of the endocrine system T184 Sign or Symptom 10 BXGD004571 Complete spermatogenic arrest C0232982 phenotype C12 Male Urogenital Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD004572 Cullen's sign C0233200 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD004573 Frank Breech Presentation C0233286 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 1 BXGD004574 Psychological symptom C0233397 phenotype Sign or Symptom T184 Sign or Symptom 33 BXGD004575 Psychiatric symptom C0233401 phenotype Sign or Symptom T184 Sign or Symptom 95 BXGD004576 Disorientation C0233407 R41.0 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom T184 Sign or Symptom 12 BXGD004577 Poor concentration C0233417 phenotype F01 Behavior and Behavior Mechanisms Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD004578 Emotional impulsivity C0233461 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD004579 Labile affect C0233472 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD004580 Euthymic mood C0233475 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD004581 Dysphoric mood C0233477 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 22 BXGD004582 Free-floating anxiety C0233483 phenotype F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD004583 Feeling despair C0233488 phenotype F01 Behavior and Behavior Mechanisms Sign or Symptom T184 Sign or Symptom 21 BXGD004584 Abnormal behavior C0233514 phenotype F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 910 BXGD004585 Inappropriate behavior C0233522 phenotype F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 14 BXGD004586 Antisocial behavior C0233523 phenotype C10;F03;F01 Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 51 BXGD004587 Falsification C0233524 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD004588 Offensive aggression C0233526 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD004589 Maladaptive behavior associated with physical illness C0233532 phenotype F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 26 BXGD004590 Bradykinesia C0233565 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 133 BXGD004591 Mannerism C0233576 phenotype F01 Behavior and Behavior Mechanisms Sign or Symptom T184 Sign or Symptom 2 BXGD004592 Twirling C0233591 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD004593 Tail-biting C0233594 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD004594 Bar-biting C0233599 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD004595 Catatonic Rigidity C0233608 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 5 BXGD004596 Negativism in catatonia C0233610 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD004597 Waxy flexibility C0233612 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 15 BXGD004598 Ritual compulsion C0233622 phenotype F03;F01 Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 8 BXGD004599 Incoherent thinking C0233643 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD004600 Grandiose delusions C0233681 phenotype F03;F01 Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD004601 Obsessions C0233697 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 8 BXGD004602 Fear of heights C0233701 F40.241 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD004603 Algophobia C0233702 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD004604 Cancerophobia C0233705 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 17 BXGD004605 Speech impairment C0233715 R47.9 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD004606 Aprosodia C0233726 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 3 BXGD004607 Perceptual disturbance C0233746 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD004608 Hysterical amnesia C0233750 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 17 BXGD004609 Derealization C0233754 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD004610 Hallucinations, Auditory C0233762 R44.0 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 14 BXGD004611 Hallucinations, Visual C0233763 R44.1 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 39 BXGD004612 Hallucinations, Tactile C0233767 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom T184 Sign or Symptom 2 BXGD004613 Micropsia C0233769 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 6 BXGD004614 Macropsia C0233771 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding T033 Finding 6 BXGD004615 Hallucinations, Hypnagogic C0233773 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 4 BXGD004616 Hallucinosis C0233777 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD004617 Synesthesia C0233778 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD004618 Memory impairment C0233794 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 763 BXGD004619 Temporary Amnesia C0233796 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 17 BXGD004620 Clumsiness C0233844 phenotype C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 48 BXGD004621 Personality Traits C0233849 group F01 Behavior and Behavior Mechanisms Finding T033 Finding 24 BXGD004622 Neuromuscular inhibition C0234119 disease Disease or Syndrome T047 Disease or Syndrome 72 BXGD004623 Pyramidal sign C0234132 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 155 BXGD004624 Extrapyramidal sign C0234133 phenotype Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 116 BXGD004625 Dysgraphia C0234144 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 43 BXGD004626 Absent reflex C0234146 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 201 BXGD004627 Cerebellar Dysmetria C0234162 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 127 BXGD004628 Hyperexplexia C0234166 phenotype C10 Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system DOID:630;DOID:7 genetic disease; disease of anatomical entity T184 Sign or Symptom 13 BXGD004629 Sucking reflex C0234174 phenotype Organism Function HP:0000707 Abnormality of the nervous system T040 Organism Function 1 BXGD004630 Palmar reflex C0234175 phenotype Organism Function HP:0000707 Abnormality of the nervous system T040 Organism Function 1 BXGD004631 Gowers sign C0234182 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 54 BXGD004632 Sensory denervation disorder C0234213 phenotype Sign or Symptom T184 Sign or Symptom 29 BXGD004633 Acroparesthesia C0234221 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 3 BXGD004634 Deep pain C0234229 phenotype C23;F03 Pathological Conditions, Signs and Symptoms; Mental Disorders Sign or Symptom T184 Sign or Symptom 1 BXGD004635 Pain, Burning C0234230 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 56 BXGD004636 Sore to touch C0234233 phenotype C23;F03 Pathological Conditions, Signs and Symptoms; Mental Disorders Sign or Symptom T184 Sign or Symptom 56 BXGD004637 Ache C0234238 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 50 BXGD004638 Indifference to pain C0234241 phenotype C23;F03 Pathological Conditions, Signs and Symptoms; Mental Disorders Sign or Symptom T184 Sign or Symptom 2 BXGD004639 Central pain C0234243 phenotype C23;F03 Pathological Conditions, Signs and Symptoms; Mental Disorders Sign or Symptom T184 Sign or Symptom 3 BXGD004640 Tissue Pain C0234244 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD004641 Visceral Pain C0234245 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 58 BXGD004642 Neuralgia, Atypical C0234247 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD004643 Neuralgia, Stump C0234249 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD004644 Pain, Referred C0234250 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 4 BXGD004645 Inflammatory pain C0234251 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 266 BXGD004646 Mechanical pain C0234252 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 30 BXGD004647 Rest pain C0234253 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 25 BXGD004648 Radiating pain C0234254 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 51 BXGD004649 Sensitive to smells C0234259 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD004650 Adiadochokinesis C0234357 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 4 BXGD004651 Synkinesis C0234362 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 13 BXGD004652 Ataxic C0234366 phenotype Sign or Symptom T184 Sign or Symptom 15 BXGD004653 Persistent Tremor C0234370 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 9 BXGD004654 Continuous Tremor C0234371 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 9 BXGD004655 Intermittent Tremor C0234372 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 9 BXGD004656 Fine Tremor C0234373 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 9 BXGD004657 Coarse Tremor C0234374 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 9 BXGD004658 Massive Tremor C0234375 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 9 BXGD004659 Action Tremor C0234376 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 95 BXGD004660 Passive Tremor C0234377 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 9 BXGD004661 Static Tremor C0234378 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 62 BXGD004662 Resting Tremor C0234379 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 57 BXGD004663 Darkness Tremor C0234381 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 9 BXGD004664 Visual Cortex Disorder C0234398 H47.6 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD004665 Physiologic disinhibition C0234410 phenotype Organ or Tissue Function T042 Organ or Tissue Function 23 BXGD004666 Disturbance of consciousness C0234428 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 35 BXGD004667 Syncope, Tussive C0234435 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD004668 Dream disorder C0234458 phenotype C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD004669 aphasic C0234461 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD004670 Aphasia, Ageusic C0234462 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD004671 Aphasia, Global C0234469 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD004672 Aphasia, Functional C0234472 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD004673 Aphasia, Graphomotor C0234474 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD004674 Aphasia, Intellectual C0234476 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD004675 Aphasia, Semantic C0234482 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD004676 Aphasia, Syntactical C0234484 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD004677 Visual Agnosia C0234502 R48.3 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T184 Sign or Symptom 8 BXGD004678 Anosognosia C0234507 R41.89 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 5 BXGD004679 Finger Agnosia C0234509 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding HP:0000707 Abnormality of the nervous system T033 Finding 7 BXGD004680 Prosopagnosia C0234512 R48.3 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 2 BXGD004681 Speech dysfunction C0234516 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD004682 Anarthria speech disorder C0234517 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 11 BXGD004683 Slurred speech C0234518 R47.81 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 39 BXGD004684 Ideational Apraxia C0234526 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD004685 Apraxia, Motor C0234527 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Pathologic Function T046 Pathologic Function 2 BXGD004686 Dressing Apraxia C0234529 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD004687 Generalized seizures C0234533 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 210 BXGD004688 Clonic Seizures C0234535 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 122 BXGD004689 Todd Paralysis C0234544 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 10 BXGD004690 Abnormal color vision C0234629 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 5 BXGD004691 Reduced visual acuity C0234632 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 147 BXGD004692 Abnormal saccadic eye movement C0234649 disease Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 17 BXGD004693 Ocular flutter C0234650 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 2 BXGD004694 Pain around eye C0234656 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD004695 Lid lag C0234664 H02.53 phenotype Sign or Symptom HP:0000152 Abnormality of head or neck T184 Sign or Symptom 3 BXGD004696 Reflex, Gag, Absent C0234784 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 5 BXGD004697 Facial grimacing C0234853 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 10 BXGD004698 Weak cry C0234860 phenotype Finding HP:0001608 Abnormality of the voice T033 Finding 42 BXGD004699 Dermatitis acneiform C0234894 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD004700 Annular Erythema C0234906 disease C23;C16;C17 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD004701 Acute urticaria C0234935 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD004702 Muscle degeneration C0234958 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 70 BXGD004703 Panarteritis C0234959 disease C17;C14 Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD004704 Astasia C0234966 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 1 BXGD004705 Convulsive disorder C0234972 R56.9 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD004706 Simple Partial Seizures C0234974 phenotype C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 4 BXGD004707 Dysdiadochokinesis C0234979 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 49 BXGD004708 Mental deterioration C0234985 phenotype F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 508 BXGD004709 Gait, Rigid C0234996 R26.1 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 4 BXGD004710 Gait, Broadened C0235000 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 4 BXGD004711 Hypervigilance C0235013 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD004712 Bulging fontanelle C0235014 phenotype C10 Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD004713 Peripheral motor neuropathy C0235025 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 64 BXGD004714 Neurologic Symptoms C0235031 group C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 233 BXGD004715 Neurotoxicity Syndromes C0235032 group C10;C25 Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning DOID:7 disease of anatomical entity T037 Injury or Poisoning 34 BXGD004716 Paresthesia, Distal C0235044 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD004717 Skeletal muscle paralysis C0235055 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD004718 Respiratory Depression C0235063 phenotype C08 Respiratory Tract Diseases Pathologic Function HP:0002086 Abnormality of the respiratory system T046 Pathologic Function 24 BXGD004719 Tremor, Perioral C0235078 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 9 BXGD004720 Tremor, Limb C0235081 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 20 BXGD004721 Tremor, Muscle C0235082 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 9 BXGD004722 Nerve Tremors C0235083 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 9 BXGD004723 Visual field constriction C0235095 H53.48 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 57 BXGD004724 Euphoric mood C0235146 phenotype F01 Behavior and Behavior Mechanisms Mental Process HP:0000707 Abnormality of the nervous system T041 Mental Process 1 BXGD004725 Feeling Cold C0235150 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD004726 Restless sleep C0235160 phenotype F03 Mental Disorders Sign or Symptom T184 Sign or Symptom 2 BXGD004727 Difficulty sleeping C0235162 phenotype F03 Mental Disorders Sign or Symptom T184 Sign or Symptom 40 BXGD004728 Mania acute C0235165 phenotype F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD004729 Unable to concentrate C0235198 phenotype F03 Mental Disorders Finding T033 Finding 1 BXGD004730 Irrational thoughts C0235204 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD004731 Diastolic hypertension C0235222 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 21 BXGD004732 Ciliary Body Spasm C0235229 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 2 BXGD004733 Syncope, Effort C0235242 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD004734 Hyperemesis C0235250 phenotype C23;C06;C10 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 3 BXGD004735 Subcapsular cataract C0235259 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Acquired Abnormality HP:0000478 Abnormality of the eye T020 Acquired Abnormality 17 BXGD004736 Keratopathy C0235270 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD004737 Retinal damage C0235272 phenotype C23;C11;C10;C26 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 32 BXGD004738 Dysosmia C0235287 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD004739 Right upper quadrant pain C0235299 R10.11 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Sign or Symptom T184 Sign or Symptom 6 BXGD004740 Small bowel obstruction C0235329 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD004741 Ulcer on tongue C0235351 disease C06;C07 Digestive System Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD004742 Hypoplasia of teeth C0235357 disease C06;C07 Digestive System Diseases; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 14 BXGD004743 Granulomatous hepatitis C0235369 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD004744 Wasting C0235394 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD004745 Hyperuricemic nephropathy C0235419 disease C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD004746 Ketonemia C0235430 phenotype C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 4 BXGD004747 Ankle edema (finding) C0235439 phenotype C18;C14 Nutritional and Metabolic Diseases; Cardiovascular Diseases Pathologic Function HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T046 Pathologic Function 4 BXGD004748 Steroid withdrawal syndrome C0235453 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD004749 Anginal attack C0235462 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD004750 Wide QRS complex C0235475 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 3 BXGD004751 Paroxysmal atrial fibrillation C0235480 I48.0 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 226 BXGD004752 Disorder of vein C0235522 I87.9 group C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD004753 Heart Failure, Right-Sided C0235527 I50.81 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 154 BXGD004754 Intravascular hemolysis C0235574 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 36 BXGD004755 Hemolytic reaction C0235575 phenotype Disease or Syndrome T047 Disease or Syndrome 4 BXGD004756 Lymphadenosis C0235587 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD004757 Fibrosing adenosis C0235590 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD004758 Cervical lymphadenopathy C0235592 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system T047 Disease or Syndrome 11 BXGD004759 Hodgkin's-like C0235598 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD004760 Qualitative platelet deficiency C0235604 D69.1 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD004761 Proliferative glomerulonephritis C0235618 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD004762 Malignant neoplasm of female breast C0235653 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 71 BXGD004763 Reduced fetal movement C0235659 O36.8190 phenotype C16;C13 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 169 BXGD004764 Galactorrhea not associated with childbirth C0235660 N64.3 disease C23;C13;C17 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD004765 Chest discomfort C0235710 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 2 BXGD004766 Port-Wine Stain C0235752 Q82.5 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T019 Congenital Abnormality 46 BXGD004767 Congenital hemangioma C0235753 disease C16;C04;C13;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD004768 Bladder papilloma C0235754 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD004769 Gallbladder Carcinoma C0235782 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 498 BXGD004770 Vitritis C0235812 disease C23;C01;C11;C10 Pathological Conditions, Signs and Symptoms; Infections; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 5 BXGD004771 Neonatal leukaemia C0235813 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD004772 Neonatal encephalopathy C0235820 P91.81 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 26 BXGD004773 Renal Cell Dysplasia C0235831 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 81 BXGD004774 Congenital hernia C0235832 disease C16;C13 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality T019 Congenital Abnormality 1 BXGD004775 Congenital diaphragmatic hernia C0235833 Q79.0 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0003549;HP:0003011 Abnormality of connective tissue; Abnormality of the musculature DOID:7 disease of anatomical entity T019 Congenital Abnormality 239 BXGD004776 Decidual endometritis C0235842 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 6 BXGD004777 Tremor, Neonatal C0235843 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 9 BXGD004778 Decreased lacrimation C0235857 phenotype C23;C18;C11;C10 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 6 BXGD004779 Delayed delivery C0235863 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 1 BXGD004780 Congenital hypertrichosis lanuginosa C0235864 disease C17 Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 6 BXGD004781 Disease Exacerbation C0235874 phenotype C23 Pathological Conditions, Signs and Symptoms Finding T033 Finding 166 BXGD004782 Depression aggravated C0235876 phenotype F03;F01 Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom T184 Sign or Symptom 1 BXGD004783 Sclerosing peritonitis C0235887 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD004784 Arthritis aggravated C0235889 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD004785 Pulmonary Infiltrate C0235896 R91.8 phenotype C08 Respiratory Tract Diseases Finding HP:0002086 Abnormality of the respiratory system T033 Finding 43 BXGD004786 Impaired psychomotor development C0235909 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD004787 Colagenosis C0235910 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD004788 Abnormality of the skull C0235942 phenotype C16;C13;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 4 BXGD004789 Cerebral atrophy C0235946 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 454 BXGD004790 Zinc deficiency C0235950 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 90 BXGD004791 Clostridium difficile diarrhea C0235952 disease C23;C06;C01 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD004792 Absence attacks C0235956 phenotype C10 Nervous System Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD004793 Renal dysgenesis C0235964 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD004794 Disorder of ejaculation C0235969 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD004795 Elevated alpha-fetoprotein C0235971 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 14 BXGD004796 Pancreatic carcinoma C0235974 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2689 BXGD004797 Stricture of bile duct C0235982 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD004798 Normochromic anemia C0235983 phenotype C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 9 BXGD004799 Growth hormone excess C0235986 phenotype C05;C10;C19 Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Finding HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T033 Finding 20 BXGD004800 Serum iron low (finding) C0235988 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 3 BXGD004801 Renal interstitial fibrosis C0235989 disease C13;C17;C12 Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 138 BXGD004802 Small for gestational age (disorder) C0235991 phenotype C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding HP:0001507 Growth abnormality T033 Finding 181 BXGD004803 Jaw pain C0236000 R68.84 phenotype C23;C05;C07 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Stomatognathic Diseases Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 6 BXGD004804 Aura C0236018 phenotype C10 Nervous System Diseases Finding T033 Finding 83 BXGD004805 Edema of pharynx C0236024 J39.2 phenotype C23;C18;C17;C20;C07;C09;C14 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Pathologic Function HP:0001939;HP:0000152 Abnormality of metabolism/homeostasis; Abnormality of head or neck T046 Pathologic Function 2 BXGD004806 Muscle hypertrophy C0236033 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Organ or Tissue Function DOID:7 disease of anatomical entity T042 Organ or Tissue Function 2 BXGD004807 Polyposis, Gastric C0236048 disease C06;C04 Digestive System Diseases; Neoplasms Disease or Syndrome HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T047 Disease or Syndrome 12 BXGD004808 Mucosal ulcer C0236053 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD004809 Cerebellar infarction C0236073 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD004810 Menopausal symptom C0236075 phenotype Sign or Symptom T184 Sign or Symptom 17 BXGD004811 Disorder of male reproductive system C0236099 group Disease or Syndrome T047 Disease or Syndrome 1 BXGD004812 SLE-like symptoms C0236116 phenotype C17 Skin and Connective Tissue Diseases Sign or Symptom T184 Sign or Symptom 3 BXGD004813 Increased IgE level C0236175 phenotype Finding HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T033 Finding 4 BXGD004814 ESTRONE MEASUREMENT C0236379 phenotype Laboratory Procedure T059 Laboratory Procedure 5 BXGD004815 Pick Disease of the Brain C0236642 G31.01 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 213 BXGD004816 Dementia associated with alcoholism C0236656 disease C10;C25;F03 Nervous System Diseases; Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD004817 Alcohol withdrawal syndrome C0236663 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 67 BXGD004818 Alcohol-Related Disorders C0236664 F10 group C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 54 BXGD004819 Amphetamine withdrawal C0236665 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD004820 Cocaine delirium C0236688 disease C23;C10;C25;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD004821 Cocaine-induced mood disorder C0236701 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD004822 Amphetamine-Related Disorders C0236733 F15 group C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 78 BXGD004823 Caffeine related disorders C0236734 F15 group Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 360 BXGD004824 Cannabis-Related Disorder C0236735 F12 group C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 10 BXGD004825 Cocaine-Related Disorders C0236736 F14 group C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 121 BXGD004826 Phencyclidine-Related Disorders C0236742 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 7 BXGD004827 Depressed bipolar I disorder C0236773 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 37 BXGD004828 Mixed bipolar I disorder C0236780 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 7 BXGD004829 Bipolar II disorder C0236788 F31.81 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 21 BXGD004830 Asperger Syndrome C0236792 F84.5 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 17 BXGD004831 Panic disorder without agoraphobia C0236794 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD004832 Dissociative Amnesia C0236795 F44.0 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 17 BXGD004833 Panic disorder with agoraphobia C0236800 F40.01 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 8 BXGD004834 Phobia, Specific C0236801 F40.2 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 4 BXGD004835 Amphetamine Addiction C0236804 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 81 BXGD004836 Amphetamine Abuse C0236807 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 75 BXGD004837 Chronobiology Disorders C0236811 group C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD004838 Stress Disorders, Traumatic, Acute C0236816 F43.0 group F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD004839 Selective Mutism C0236818 F94.0 phenotype C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD004840 Age-related cognitive decline C0236848 R41.81 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 24 BXGD004841 Attention Deficit and Disruptive Behavior Disorders C0236964 phenotype F03 Mental Disorders Pathologic Function T046 Pathologic Function 2 BXGD004842 Substance-Related Disorders C0236969 group C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 128 BXGD004843 Alcohol-Induced Disorders C0236970 group C25 Chemically-Induced Disorders Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 50 BXGD004844 Dermoid cyst of ovary C0237020 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD004845 Alcohol or Other Drugs use C0237123 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 108 BXGD004846 Dyschezia C0237326 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025031 Abnormality of the digestive system T184 Sign or Symptom 7 BXGD004847 Immunologic hypersensitivity C0237653 phenotype Pathologic Function HP:0002715 Abnormality of the immune system T046 Pathologic Function 16 BXGD004848 Acute Psychotic Episode C0237811 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD004849 Peeling of skin C0237849 R23.4 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 21 BXGD004850 Physiological Sexual Disorders C0237873 phenotype C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function T046 Pathologic Function 4 BXGD004851 emotional trauma C0237932 disease F01;C26 Behavior and Behavior Mechanisms; Wounds and Injuries Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD004852 Gastrointestinal ulcer C0237938 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD004853 pediatric AIDS C0237967 disease C01;C20 Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD004854 Adenocarcinoma of appendix C0238003 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD004855 Invasive aspergillosis C0238013 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 59 BXGD004856 Autonomic Dysreflexia C0238015 G90.4 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD004857 Carcinoma of extrahepatic bile duct C0238019 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 35 BXGD004858 Biliary adenoma C0238020 disease C06 Digestive System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD004859 Ependymoma of brain C0238029 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD004860 Breast Phyllodes Tumor C0238031 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD004861 Carcinoma of Male Breast C0238033 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 87 BXGD004862 Intraductal papilloma of breast C0238034 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD004863 Carotid-Cavernous Sinus Fistula C0238045 disease C23;C16;C10;C14;C26 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 2 BXGD004864 Adult form of celiac disease C0238049 disease C06;C18 Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD004865 Cerebral Angiitis C0238051 disease C20;C10;C14 Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system T047 Disease or Syndrome 8 BXGD004866 Xanthomatosis, Cerebrotendinous C0238052 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 40 BXGD004867 Chorea, Senile C0238056 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD004868 Chronic intestinal pseudo-obstruction C0238062 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD004869 Secondary Biliary Cholangitis C0238065 K74.4 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 42 BXGD004870 Colitis, Collagenous C0238067 K52.831 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 21 BXGD004871 Chronic pulmonary heart disease C0238074 I27.9 disease C08;C14 Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD004872 Stenosis of duodenum C0238093 K31.5 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T190 Anatomical Abnormality 29 BXGD004873 Embolism, Paradoxical C0238096 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD004874 Cytomegalovirus encephalitis C0238097 B25.8 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD004875 Chronic endometritis C0238104 disease C13;C01 Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome T047 Disease or Syndrome 14 BXGD004876 Clostridium difficile colitis C0238106 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD004877 Lennox-Gastaut syndrome C0238111 G40.81 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 25 BXGD004878 Radiation esophagitis C0238113 disease C06;C26 Digestive System Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 10 BXGD004879 Leiomyoma of esophagus C0238114 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD004880 Boerhaave syndrome C0238115 disease C06;C08;C26 Digestive System Diseases; Respiratory Tract Diseases; Wounds and Injuries Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 2 BXGD004881 Acquired Factor XIII Deficiency C0238120 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD004882 Fallopian Tube Carcinoma C0238122 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 18 BXGD004883 Necrotizing fasciitis C0238124 M72.6 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 24 BXGD004884 Bronchopleural Fistula C0238132 J86.0 disease C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD004885 Gallbladder adenoma C0238137 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD004886 Benign hematuria C0238157 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD004887 Secondary hemochromatosis C0238158 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD004888 Hemoglobin E disease C0238159 D58.2 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD004889 Juvenile myxedema C0238185 disease C17;C19 Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD004890 Inclusion Body Myositis (disorder) C0238190 G72.41 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 87 BXGD004891 Small intestine carcinoma C0238196 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 17 BXGD004892 Leiomyoma of small intestine C0238197 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD004893 Gastrointestinal Stromal Tumors C0238198 C49.A group C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 538 BXGD004894 Ectopic kidney C0238207 Q63.2 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 41 BXGD004895 Malrotation of kidney C0238210 Q63.2 disease Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 8 BXGD004896 Polyp of larynx C0238232 disease C23;C08;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD004897 Light chain disease C0238239 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD004898 Hemangioma of liver C0238246 disease C06;C04;C14 Digestive System Diseases; Neoplasms; Cardiovascular Diseases Neoplastic Process HP:0025031;HP:0002664;HP:0001626 Abnormality of the digestive system; Neoplasm; Abnormality of the cardiovascular system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD004899 Metastatic Carcinoma in the Lung C0238254 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD004900 Lymphangitis carcinomatosa C0238258 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 7 BXGD004901 Lymphedema praecox C0238261 I89.0 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD004902 Middle Cerebral Artery Syndrome C0238281 G46.0 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 35 BXGD004903 Acute mountain sickness C0238284 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 21 BXGD004904 Mucolipidosis Type IV C0238286 E75.11 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 22 BXGD004905 Muscular Dystrophy, Facioscapulohumeral C0238288 G71.02 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 143 BXGD004906 Osteomyelosclerosis C0238293 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD004907 MYOCARDITIS, ACTIVE C0238294 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD004908 Stenosis of nasolacrimal duct C0238300 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 7 BXGD004909 Cancer of Nasopharynx C0238301 disease C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 145 BXGD004910 Chronic interstitial nephritis C0238304 N11.9 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD004911 Sickle cell nephropathy C0238305 disease C23;C16;C13;C12;C15 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD004912 Ischemic peripheral neuropathy C0238309 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD004913 Ovarian Germ Cell Tumor C0238324 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD004914 Hereditary pancreatitis C0238339 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 158 BXGD004915 Squamous cell carcinoma of penis C0238348 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 40 BXGD004916 Hyperkalemic periodic paralysis C0238357 G72.3 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD004917 Hypokalemic periodic paralysis C0238358 G72.3 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 19 BXGD004918 PITUITARY ADENOMA, NON-SECRETING C0238374 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD004919 Desquamative interstitial pneumonia C0238378 J84.117 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD004920 PRIMARY LACTIC ACIDOSIS C0238391 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD004921 Female Pseudohermaphroditism C0238394 Q56.2 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 10 BXGD004922 Male Pseudohermaphroditism C0238395 Q56.1 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 50 BXGD004923 Pulmonary artery stenosis C0238397 disease C14 Cardiovascular Diseases Anatomical Abnormality HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system T190 Anatomical Abnormality 36 BXGD004924 Pycnodysostosis C0238402 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD004925 Hematoma of rectus sheath C0238408 phenotype C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality T020 Acquired Abnormality 1 BXGD004926 SCLERODERMA, PULMONARY C0238415 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD004927 Fournier Gangrene C0238419 N49.3 disease C01;C12 Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD004928 Selenium deficiency C0238421 disease Disease or Syndrome T047 Disease or Syndrome 44 BXGD004929 Hemoglobin SS disease with crisis C0238425 D57.0 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD004930 Ependymoma of spinal cord C0238432 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD004931 Epidural Abscess, Spinal C0238434 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD004932 Subglottic stenosis C0238441 disease C23;C16;C08;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Anatomical Abnormality HP:0002086 Abnormality of the respiratory system T190 Anatomical Abnormality 17 BXGD004933 Testicular embryonal carcinoma C0238448 disease C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD004934 Teratoma of testis C0238451 disease C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD004935 Thrombosis of renal vein C0238457 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD004936 Anaplastic thyroid carcinoma C0238461 disease C04 Neoplasms Neoplastic Process HP:0000818;HP:0002664 Abnormality of the endocrine system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 392 BXGD004937 Medullary carcinoma of thyroid C0238462 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0002664 Abnormality of the endocrine system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 330 BXGD004938 Papillary thyroid carcinoma C0238463 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0002664 Abnormality of the endocrine system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1348 BXGD004939 TOXOPLASMOSIS, CHRONIC C0238472 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 6 BXGD004940 Transient erythroblastopenia of childhood C0238478 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 23 BXGD004941 Congenital posterior urethral valves C0238506 Q64.2 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 26 BXGD004942 Vaginal clear cell adenocarcinoma C0238517 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm T191 Neoplastic Process 1 BXGD004943 Left lower quadrant pain C0238551 R10.32 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD004944 Abdominal wall defect C0238577 group Congenital Abnormality HP:0025031 Abnormality of the digestive system DOID:0080015 physical disorder T019 Congenital Abnormality 8 BXGD004945 Acrogeria C0238590 disease C23;C16;C18;C17 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD004946 Adactyly C0238591 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 2 BXGD004947 Aminoaciduria C0238621 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T047 Disease or Syndrome 68 BXGD004948 Anal pain C0238637 phenotype C23;C06;C10 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nervous System Diseases Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 1 BXGD004949 Anemia, severe C0238644 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 65 BXGD004950 ankle arthritis C0238650 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD004951 Ankle clonus C0238651 phenotype Finding HP:0000707;HP:0040064;HP:0000924 Abnormality of the nervous system; Abnormality of limbs; Abnormality of the skeletal system T033 Finding 32 BXGD004952 Aortic root dilatation C0238669 disease C14 Cardiovascular Diseases Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 15 BXGD004953 Peripheral arthritis C0238694 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 22 BXGD004954 Impairment of attention C0238707 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD004955 Upper back pain C0238741 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD004956 bone destruction C0238790 disease Disease or Syndrome T047 Disease or Syndrome 234 BXGD004957 Bone marrow megaloblastic (finding) C0238801 phenotype Laboratory or Test Result HP:0001871 Abnormality of blood and blood-forming tissues T034 Laboratory or Test Result 4 BXGD004958 brain hemangioma C0238814 disease C04;C10 Neoplasms; Nervous System Diseases Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 1 BXGD004959 Acute lower respiratory tract infection C0238990 J22 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD004960 Difficulty chewing C0239043 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 14 BXGD004961 Difficulty walking up stairs C0239067 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0003011 Abnormality of the musculature T033 Finding 51 BXGD004962 Conjunctival telangiectasis C0239105 disease Disease or Syndrome HP:0001574;HP:0000152;HP:0000478;HP:0001626 Abnormality of the integument; Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system T047 Disease or Syndrome 20 BXGD004963 Lenticonus C0239119 disease Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 6 BXGD004964 Productive Cough C0239134 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding HP:0002086 Abnormality of the respiratory system T033 Finding 17 BXGD004965 Coxa valga C0239137 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 68 BXGD004966 Hip joint varus deformity - observation C0239138 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 49 BXGD004967 High pitched cry C0239154 phenotype F01 Behavior and Behavior Mechanisms Finding HP:0001608 Abnormality of the voice T033 Finding 5 BXGD004968 Dactylitis C0239161 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD004969 Late tooth eruption C0239174 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 139 BXGD004970 Intermittent diarrhea C0239181 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025031 Abnormality of the digestive system T184 Sign or Symptom 17 BXGD004971 Watery diarrhoea C0239182 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 5 BXGD004972 Oedema auricular C0239211 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 24 BXGD004973 Early satiety C0239233 R68.81 phenotype F03 Mental Disorders Sign or Symptom T184 Sign or Symptom 2 BXGD004974 Low set ears C0239234 Q17.4 disease Congenital Abnormality HP:0000598 Abnormality of the ear T019 Congenital Abnormality 489 BXGD004975 Elbow stiff C0239272 phenotype Sign or Symptom HP:0000924 Abnormality of the skeletal system T184 Sign or Symptom 3 BXGD004976 Candidiasis of the esophagus C0239295 B37.81 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 12 BXGD004977 Extensor Rigidity C0239325 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 5 BXGD004978 Deformity of limb C0239337 group Anatomical Abnormality T190 Anatomical Abnormality 37 BXGD004979 Edema of lower extremity C0239340 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001939;HP:0040064 Abnormality of metabolism/homeostasis; Abnormality of limbs T033 Finding 2 BXGD004980 Arm Pain C0239377 M79.603 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025142;HP:0000924 Constitutional symptom; Abnormality of the skeletal system T184 Sign or Symptom 10 BXGD004981 Short extremities C0239399 phenotype Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 38 BXGD004982 Round face C0239479 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 88 BXGD004983 Facial erythema C0239488 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system T033 Finding 6 BXGD004984 Fasciculation, Tongue C0239548 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707;HP:0000152 Abnormality of the nervous system; Abnormality of head or neck T033 Finding 21 BXGD004985 Fat intolerance C0239549 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 2 BXGD004986 Low grade fever C0239574 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 5 BXGD004987 Short finger C0239594 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 37 BXGD004988 Swelling of finger C0239598 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 5 BXGD004989 High forehead C0239676 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 211 BXGD004990 Gonadal hypoplasia C0239761 disease Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 3 BXGD004991 Color Blindness, Green C0239777 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD004992 Inguinal pain C0239783 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 8 BXGD004993 Blonde hair C0239801 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 13 BXGD004994 Red hair C0239803 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 9 BXGD004995 White hair C0239804 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 18 BXGD004996 Hand clenching C0239815 phenotype Finding HP:0040064 Abnormality of limbs T033 Finding 26 BXGD004997 Hand eczema C0239816 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD004998 Hand muscle atrophy C0239830 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 10 BXGD004999 Hand muscle weakness C0239831 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 14 BXGD005000 Hand pain C0239833 phenotype Sign or Symptom T184 Sign or Symptom 4 BXGD005001 Tremor of hands C0239842 phenotype Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 31 BXGD005002 Hand-wringing C0239846 phenotype Finding T033 Finding 1 BXGD005003 Harlequin Fetus C0239849 Q80.4 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 73 BXGD005004 Head tremor C0239882 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 21 BXGD005005 Headache recurrent C0239888 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 2 BXGD005006 HEART DISPLACEMENT C0239894 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD005007 Hematocrit increased C0239935 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 7 BXGD005008 Microscopic hematuria C0239937 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 15 BXGD005009 Persistence of hemoglobin F C0239941 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 9 BXGD005010 Fibrosis, Liver C0239946 K74.00 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 1179 BXGD005011 Hypoalbuminemia C0239981 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 107 BXGD005012 Recurrent infections C0239998 phenotype C23;C01;C05 Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases Finding HP:0002715 Abnormality of the immune system T033 Finding 127 BXGD005013 Intercostal muscle weakness C0240017 phenotype C23;C05;C08;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases Finding HP:0002086;HP:0000924;HP:0003011 Abnormality of the respiratory system; Abnormality of the skeletal system; Abnormality of the musculature T033 Finding 2 BXGD005014 Ventricular hemorrhage C0240059 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function HP:0000707;HP:0001871;HP:0001626 Abnormality of the nervous system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T046 Pathologic Function 2 BXGD005015 Coloboma of iris C0240063 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 153 BXGD005016 Iron deficiency C0240066 E61.1 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 179 BXGD005017 Abnormal joint morphology C0240083 phenotype C05 Musculoskeletal Diseases Finding HP:0000924 Abnormality of the skeletal system T033 Finding 6 BXGD005018 Joint tenderness C0240094 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom T184 Sign or Symptom 19 BXGD005019 Arthritis of knee C0240111 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005020 Hyperactive patellar reflex C0240116 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 14 BXGD005021 Knee stiff C0240129 phenotype Sign or Symptom HP:0000924 Abnormality of the skeletal system T184 Sign or Symptom 5 BXGD005022 Squamous Papilloma of the Larynx C0240164 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 18 BXGD005023 Leukonychia C0240182 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 9 BXGD005024 Lip swelling C0240211 phenotype C23;C17;C20;C14 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Sign or Symptom HP:0000152 Abnormality of head or neck T184 Sign or Symptom 1 BXGD005025 Liver mass C0240225 phenotype Disease or Syndrome T047 Disease or Syndrome 36 BXGD005026 Fractures of the long bones C0240231 phenotype C26 Wounds and Injuries Finding HP:0000924 Abnormality of the skeletal system T033 Finding 6 BXGD005027 Lymphatic obstruction C0240278 phenotype C15 Hemic and Lymphatic Diseases Pathologic Function HP:0001939 Abnormality of metabolism/homeostasis T046 Pathologic Function 2 BXGD005028 Masseter Muscle Spasm C0240302 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 1 BXGD005029 Hyperplasia of midface C0240309 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 4 BXGD005030 Hypoplasia of the maxilla C0240310 M26.02 disease Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 113 BXGD005031 Microdontia (disorder) C0240340 K00.2 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 109 BXGD005032 Micrographia C0240341 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 14 BXGD005033 Open mouth (finding) C0240379 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 96 BXGD005034 Muscle hematoma C0240412 disease C23 Pathological Conditions, Signs and Symptoms Injury or Poisoning HP:0003011 Abnormality of the musculature T037 Injury or Poisoning 6 BXGD005035 Hypoplasia of muscle C0240414 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 6 BXGD005036 Muscle tenderness C0240419 phenotype C05 Musculoskeletal Diseases Sign or Symptom T184 Sign or Symptom 4 BXGD005037 Progressive muscle weakness C0240421 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 44 BXGD005038 Pachyonychia C0240444 Q84.5 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 2 BXGD005039 Neck muscle weakness C0240479 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 49 BXGD005040 Nipple pain C0240515 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD005041 Convex nasal ridge C0240538 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 69 BXGD005042 Bulbous nose C0240543 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 123 BXGD005043 Pain of nose C0240564 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 2 BXGD005044 Short upturned nose C0240583 phenotype Finding T033 Finding 1 BXGD005045 Rotary Nystagmus C0240595 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 9 BXGD005046 opioid use C0240602 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 39 BXGD005047 Byzanthine arch palate C0240635 Q38.5 disease C16;C05;C10;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 497 BXGD005048 Partial thromboplastin time increased (finding) C0240671 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 18 BXGD005049 Pelvic girdle muscle atrophy C0240679 disease Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 4 BXGD005050 Small penis C0240701 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 11 BXGD005051 Peroneal muscle weakness C0240733 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 3 BXGD005052 Personality Change C0240735 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 43 BXGD005053 Acquired pectus carinatum C0240765 disease C05 Musculoskeletal Diseases Acquired Abnormality T020 Acquired Abnormality 6 BXGD005054 Increased circulating renin level C0240783 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 10 BXGD005055 Primary cerebral lymphoma C0240803 disease C04;C20;C10;C15 Neoplasms; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD005056 Prodrome C0240805 phenotype Sign or Symptom T184 Sign or Symptom 10 BXGD005057 Prostatic Infection C0240811 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD005058 Prostatic pain C0240812 disease C23;C12 Pathological Conditions, Signs and Symptoms; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005059 Fundus coloboma C0240896 Q14.8 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 57 BXGD005060 Retinal exudates C0240897 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 5 BXGD005061 Rheumatoid Vasculitis C0240903 disease C17;C05;C20;C14 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD005062 Vertical Talus C0240912 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 69 BXGD005063 Romberg's sign positive C0240914 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 15 BXGD005064 Salt craving C0240928 phenotype F03 Mental Disorders Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 3 BXGD005065 Scalp pain C0240940 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0000152 Abnormality of head or neck T184 Sign or Symptom 1 BXGD005066 Dysarthria, Scanning C0240952 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD005067 Winged scapula C0240953 phenotype Finding HP:0040064;HP:0000924;HP:0003011 Abnormality of limbs; Abnormality of the skeletal system; Abnormality of the musculature T033 Finding 73 BXGD005068 sciatic nerve pain C0240958 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 5 BXGD005069 Ataxia, Sensory C0240991 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 35 BXGD005070 Increased serum androstenedione C0240995 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 1 BXGD005071 Decreased serum ceruloplasmin C0240997 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 12 BXGD005072 Creatine phosphokinase serum increased C0241005 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T033 Finding 228 BXGD005073 Low serum estradiol levels C0241011 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 33 BXGD005074 Decreased serum ferritin C0241012 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 3 BXGD005075 Increased serum ferritin C0241013 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 23 BXGD005076 Shoulder stiff C0241042 phenotype Sign or Symptom HP:0000924 Abnormality of the skeletal system T184 Sign or Symptom 4 BXGD005077 Cyst of skin C0241060 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 1 BXGD005078 Hyperextensible skin C0241074 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 50 BXGD005079 Pain of skin C0241136 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD005080 Petechiae of skin C0241144 phenotype C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Sign or Symptom T184 Sign or Symptom 54 BXGD005081 Cutaneous plaque C0241148 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 19 BXGD005082 pustule C0241157 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T033 Finding 18 BXGD005083 Thick skin C0241165 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 40 BXGD005084 Fragile skin C0241181 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 26 BXGD005085 Smooth muscle antibodies positive C0241185 phenotype Laboratory or Test Result HP:0002715 Abnormality of the immune system T034 Laboratory or Test Result 4 BXGD005086 Speech Delay C0241210 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 58 BXGD005087 Spinal cord lesion C0241224 phenotype C10 Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 7 BXGD005088 Difficulty standing C0241237 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0003011 Abnormality of the musculature T184 Sign or Symptom 21 BXGD005089 Tall stature C0241240 phenotype Finding HP:0001507 Growth abnormality T033 Finding 79 BXGD005090 Subcutaneous Abscess C0241266 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD005091 Absence of subcutaneous fat C0241267 phenotype Finding HP:0003549 Abnormality of connective tissue T033 Finding 11 BXGD005092 Small testicle C0241355 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 129 BXGD005093 Thumb absent C0241391 phenotype Finding T033 Finding 21 BXGD005094 Spatulate thumbs C0241395 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD005095 Triphalangeal thumb C0241397 Q74.0 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:630;DOID:7;DOID:0080015 genetic disease; disease of anatomical entity; physical disorder T019 Congenital Abnormality 56 BXGD005096 Atrophy of tongue C0241423 K14.8 disease C23;C07 Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 10 BXGD005097 Tongue biting C0241424 phenotype C07 Stomatognathic Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD005098 Tongue nodules C0241438 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 11 BXGD005099 Protrusion of tongue C0241442 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 27 BXGD005100 Retraction of tympanic membrane C0241518 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD005101 Ulnar deviation of hand C0241521 phenotype C05 Musculoskeletal Diseases Finding HP:0040064 Abnormality of limbs T033 Finding 12 BXGD005102 Elevated urinary catecholamines C0241577 R82.5 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 8 BXGD005103 Atrophy of vagina C0241616 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 1 BXGD005104 Abnormal heart valve morphology C0241654 phenotype C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 42 BXGD005105 Abnormality of the vasculature C0241657 group C16;C08;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 4 BXGD005106 Abnormal venous morphology C0241665 phenotype Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 2 BXGD005107 Peripheral visual field loss C0241688 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 19 BXGD005108 Voice Fatigue C0241700 phenotype C23;C08;C10;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Finding HP:0001608 Abnormality of the voice T033 Finding 20 BXGD005109 High pitched voice C0241703 phenotype Finding HP:0001608 Abnormality of the voice T033 Finding 35 BXGD005110 Delayed ability to walk C0241726 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 77 BXGD005111 Wrist swelling C0241760 phenotype Pathologic Function HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T046 Pathologic Function 2 BXGD005112 Reflex, Deep Tendon, Absent C0241772 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD005113 Organic aciduria C0241775 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 12 BXGD005114 Congenital pulmonary arteriovenous malformation C0241790 Q25.72 disease C08 Respiratory Tract Diseases Congenital Abnormality T019 Congenital Abnormality 4 BXGD005115 Global brain atrophy C0241816 phenotype Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 41 BXGD005116 Cerebral salt-wasting syndrome C0241831 disease C18;C10;C19 Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005117 Cerebrovascular Insufficiency C0241832 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005118 acute aortic dissection C0241868 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 63 BXGD005119 Obstructive emphysema C0241876 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005120 Endometriosis of pelvis C0241880 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 20 BXGD005121 Tick fever C0241893 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD005122 Hematuria, Benign Familial C0241908 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 11 BXGD005123 Autoimmune Chronic Hepatitis C0241910 disease C06;C20 Digestive System Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 213 BXGD005124 Halothane Hepatitis C0241913 disease C06;C25 Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 3 BXGD005125 heroin withdrawal C0241919 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD005126 X-linked hypogammaglobulinemia C0241932 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD005127 Intestinal infarction C0241950 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD005128 Angiomyolipoma of kidney C0241961 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 36 BXGD005129 Bulla of lung C0241982 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD005130 Honeycomb lung C0241984 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system T047 Disease or Syndrome 14 BXGD005131 Malignant melanoma of vulva C0241989 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD005132 Myelofibrosis due to another disorder C0242006 D75.81 disease Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 23 BXGD005133 Sciatic Neuritis C0242013 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005134 Pulmonary congestion C0242073 disease C08;C14 Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD005135 Ruptured cerebral aneurysm C0242084 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD005136 Thrombotic stroke C0242129 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD005137 Acute urinary tract infection C0242147 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005138 Pelvic Inflammatory Disease C0242172 N73.9 group C13;C01 Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 74 BXGD005139 Jaundice, Hemolytic C0242183 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 3 BXGD005140 Hypoxia C0242184 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 59 BXGD005141 Biliary calculi C0242216 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance T031 Body Substance 48 BXGD005142 Calcium Pyrophosphate Dihydrate Deposition C0242217 phenotype C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD005143 Color blindness C0242225 H53.5 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 33 BXGD005144 Coronary Stenosis C0242231 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 111 BXGD005145 Isaacs syndrome C0242287 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7;DOID:225 disease of anatomical entity; syndrome T047 Disease or Syndrome 13 BXGD005146 McCune-Albright Syndrome C0242292 Q78.1 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 45 BXGD005147 furuncle C0242301 L02.92 disease C01;C17;C22 Infections; Skin and Connective Tissue Diseases; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005148 BLV Infections C0242337 group C01;C20 Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005149 HTLV Infections C0242338 group C01;C20 Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD005150 Dyslipidemias C0242339 group C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 471 BXGD005151 Sexual Infantilism C0242341 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005152 Sheehan Syndrome C0242342 E23.0 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 16 BXGD005153 Panhypopituitarism C0242343 E23.0 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 73 BXGD005154 Erectile dysfunction C0242350 F52.21 disease C12;F03 Male Urogenital Diseases; Mental Disorders Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:150 disease of mental health T047 Disease or Syndrome 256 BXGD005155 Disk, Herniated C0242362 disease C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Acquired Abnormality T020 Acquired Abnormality 31 BXGD005156 Islet Cell Tumor C0242363 D13.7 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 108 BXGD005157 Malignant neoplasm of lung C0242379 C34.90 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process HP:0002664;HP:0002086 Neoplasm; Abnormality of the respiratory system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4173 BXGD005158 Libman-Sacks Disease C0242380 M32.11 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 59 BXGD005159 Lyme Arthritis C0242381 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 57 BXGD005160 Age related macular degeneration C0242383 H35.30 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 685 BXGD005161 Mandibulofacial Dysostosis C0242387 Q75.4 disease C16;C11;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system DOID:630 genetic disease T047 Disease or Syndrome 42 BXGD005162 Myofibroblastoma C0242404 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD005163 Parkinsonian Disorders C0242422 group C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 373 BXGD005164 Ramsay Hunt Paralysis Syndrome C0242423 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 28 BXGD005165 Chylopericardium C0242426 I31.3 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 4 BXGD005166 Sore Throat C0242429 R07.0 phenotype C01;C08;C07;C09 Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Sign or Symptom DOID:7 disease of anatomical entity T184 Sign or Symptom 18 BXGD005167 Prostatism C0242453 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 2 BXGD005168 Simple Pulmonary Eosinophilia C0242459 J82.89 disease C08;C15 Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD005169 Purpura, Nonthrombocytopenic C0242461 phenotype C23;C20;C15;C14 Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005170 Acute Lung Injury C0242488 disease C08 Respiratory Tract Diseases Injury or Poisoning T037 Injury or Poisoning 93 BXGD005171 Enthesopathy C0242490 M77.9 disease C05;C26 Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD005172 Intestinal schistosomiasis C0242497 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 8 BXGD005173 Drug usage C0242510 phenotype C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 170 BXGD005174 Chronic thyroiditis C0242520 E06.5 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD005175 Gonadal Dysgenesis, 45,X C0242526 disease C16;C13;C12;C19;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 23 BXGD005176 Azotemia C0242528 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 9 BXGD005177 Opsoclonus C0242567 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 5 BXGD005178 Bare Lymphocyte Syndrome C0242583 D81.6 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 24 BXGD005179 Autoimmune thrombocytopenia C0242584 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 115 BXGD005180 Residual Cancer C0242594 phenotype C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 11 BXGD005181 Neoplasm, Residual C0242596 phenotype C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 329 BXGD005182 Leukocyte-Adhesion Deficiency Syndrome C0242597 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD005183 Isochromosomes C0242621 phenotype C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality T020 Acquired Abnormality 75 BXGD005184 Mucosa-Associated Lymphoid Tissue Lymphoma C0242647 C88.4 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 264 BXGD005185 Protein S Deficiency C0242666 D68.59 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 19 BXGD005186 Placenta, Retained C0242669 O72.0 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 3 BXGD005187 Persistent Vegetative State C0242670 R40.3 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD005188 Hypodynamia C0242684 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Organism Function T040 Organism Function 3 BXGD005189 Ventricular Dysfunction, Left C0242698 phenotype C14 Cardiovascular Diseases Pathologic Function T046 Pathologic Function 88 BXGD005190 Bone Demineralization, Pathologic C0242699 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005191 Hyperoxia C0242706 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 50 BXGD005192 Right Ventricular Dysfunction C0242707 phenotype C14 Cardiovascular Diseases Pathologic Function T046 Pathologic Function 3 BXGD005193 Parasitemia C0242723 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 140 BXGD005194 Bronchiolitis Obliterans Organizing Pneumonia C0242770 J84.116 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD005195 Malignant neoplasm of male breast C0242787 disease C04;C17;C19 Neoplasms; Skin and Connective Tissue Diseases; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 75 BXGD005196 Breast Neoplasms, Male C0242788 group C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 14 BXGD005197 Proliferative vitreoretinopathy C0242852 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 142 BXGD005198 Congenital atresia of pulmonary valve C0242855 Q22.0 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 11 BXGD005199 Ventricular Septal Rupture C0242875 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005200 Filoviridae Infections C0242917 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 13 BXGD005201 Systemic Inflammatory Response Syndrome C0242966 R65.10 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 185 BXGD005202 Ventricular Dysfunction C0242973 phenotype C14 Cardiovascular Diseases Pathologic Function T046 Pathologic Function 11 BXGD005203 Multiple Chemical Sensitivity C0242992 phenotype C20;C21 Immune System Diseases; Disorders of Environmental Origin Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 5 BXGD005204 Nephropathia Epidemica C0242993 A98.5 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 9 BXGD005205 Hantavirus Infections C0242994 A98.5 group C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 108 BXGD005206 Impotence, Vasculogenic C0243000 disease C12 Male Urogenital Diseases Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 3 BXGD005207 Abdominal Abscess C0243001 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD005208 Tricuspid Atresia C0243002 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T019 Congenital Abnormality 18 BXGD005209 Viral Encephalitis C0243010 A86 group C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 35 BXGD005210 Sepsis C0243026 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 1453 BXGD005211 Carcinoma, Lewis Lung C0243038 disease C04 Neoplasms Neoplastic Process; Experimental Model of Disease T191;T050 Neoplastic Process; Experimental Model of Disease 188 BXGD005212 Cardiovascular Abnormalities C0243050 group C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 99 BXGD005213 Atresia C0243066 disease Congenital Abnormality T019 Congenital Abnormality 44 BXGD005214 Autosomal recessive SCID C0259743 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005215 dysproteinemia C0259744 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005216 Autonomic neuropathy C0259749 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 29 BXGD005217 Epithelial inclusion cyst C0259770 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Anatomical Abnormality T190 Anatomical Abnormality 14 BXGD005218 Fibrous Dysplasia C0259779 M27.8 disease Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 53 BXGD005219 Compound nevus of skin C0259781 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD005220 Telangiectatic osteosarcoma C0259782 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD005221 mixed gliomas C0259783 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 76 BXGD005222 Malignant Meningioma C0259785 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 49 BXGD005223 Rhabdoid meningioma C0259786 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD005224 Punctate keratitis C0259799 H16.14 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD005225 Drop Attack C0259813 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 4 BXGD005226 Xerosis C0259817 disease C06;C10 Digestive System Diseases; Nervous System Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 4 BXGD005227 Multiple tumors C0260037 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 143 BXGD005228 Hearing problem C0260662 group C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding T033 Finding 3 BXGD005229 Growth abnormality C0262361 phenotype Finding HP:0001507 Growth abnormality T033 Finding 49 BXGD005230 Stricture of anus C0262374 phenotype C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Finding HP:0025031 Abnormality of the digestive system T033 Finding 28 BXGD005231 anxiety generalized C0262376 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 11 BXGD005232 Asymptomatic bacteriuria C0262380 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 23 BXGD005233 Autonomic nervous system imbalance C0262385 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD005234 Borderline hypertension C0262395 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005235 Carcinoma of ampulla of Vater C0262401 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 37 BXGD005236 Cerebellar degeneration C0262404 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 60 BXGD005237 Cerebral dysfunction C0262405 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 45 BXGD005238 Acute on chronic pancreatitis C0262417 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD005239 Chronic urinary tract infection C0262421 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005240 CNS DEGENERATION C0262424 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005241 Collagen-vascular disease C0262428 M30-M36 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD005242 Compression fracture of vertebral column C0262431 phenotype C18;C05;C26 Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries Pathologic Function HP:0000924 Abnormality of the skeletal system T046 Pathologic Function 25 BXGD005243 Cardiac valvular dysplasia, X-linked C0262436 disease C16;C04;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD005244 Abnormality of the dentition C0262444 phenotype C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 140 BXGD005245 Embolic stroke C0262469 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD005246 Congenital abnormality of Eustachian tube C0262475 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality HP:0000598 Abnormality of the ear T019 Congenital Abnormality 4 BXGD005247 Eye problem C0262477 phenotype Finding T033 Finding 1 BXGD005248 Wrinkled face C0262478 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 5 BXGD005249 Global Amnesia C0262497 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 17 BXGD005250 herpetic neuralgia C0262509 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD005251 White Coat Hypertension C0262534 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD005252 maternal hypothyroidism C0262548 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005253 Anteroseptal Myocardial Infarction C0262565 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD005254 Subendocardial myocardial infarction C0262568 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005255 Nerve paralysis C0262576 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005256 Carcinoma, Small Cell C0262584 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 185 BXGD005257 ONYCHOPATHY C0262585 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD005258 Osteopenia/osteoporosis C0262586 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD005259 Parathyroid Adenoma C0262587 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0002664 Abnormality of the endocrine system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 133 BXGD005260 Pelvic adhesions C0262591 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 2 BXGD005261 Abnormality of the sacroiliac joint C0262621 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 4 BXGD005262 Reduced concentration span C0262630 phenotype F01 Behavior and Behavior Mechanisms Finding HP:0000707 Abnormality of the nervous system T033 Finding 77 BXGD005263 Abnormality of the thymus C0262650 disease Anatomical Abnormality HP:0000818;HP:0002715;HP:0001626 Abnormality of the endocrine system; Abnormality of the immune system; Abnormality of the cardiovascular system T190 Anatomical Abnormality 5 BXGD005264 Recurrent urinary tract infection C0262655 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome HP:0000119;HP:0002715 Abnormality of the genitourinary system; Abnormality of the immune system T047 Disease or Syndrome 237 BXGD005265 Vagina Carcinoma C0262659 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 11 BXGD005266 VASCULAR EMBOLISM C0262660 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005267 Abnormal vocal cord morphology C0262665 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 1 BXGD005268 Extraocular Muscle Paresis C0262918 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005269 Myxoma of the Endocardium C0262929 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 28 BXGD005270 extragonadal germ cell tumor C0262963 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 2 BXGD005271 Acute dermatitis C0262972 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005272 Subacute dermatitis C0262974 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005273 Chronic dermatitis C0262975 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD005274 Achromia of skin C0262977 phenotype C17 Skin and Connective Tissue Diseases Sign or Symptom T184 Sign or Symptom 7 BXGD005275 Interface dermatitis C0262981 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD005276 Spongiotic dermatitis C0262984 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD005277 Psoriasiform eczema C0262985 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T047 Disease or Syndrome 62 BXGD005278 Vasculitis of the skin C0262988 L95.9 disease C17;C14 Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system T047 Disease or Syndrome 21 BXGD005279 Perifolliculitis C0263006 L01.02 disease Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T047 Disease or Syndrome 2 BXGD005280 Sclerosis of the skin C0263009 disease Disease or Syndrome T047 Disease or Syndrome 22 BXGD005281 Pyogenic granuloma of skin C0263218 L98.0 disease C23;C04;C01;C17 Pathological Conditions, Signs and Symptoms; Neoplasms; Infections; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 10 BXGD005282 Acute eczema C0263221 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005283 Chronic eczema C0263222 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005284 Flexural atopic dermatitis C0263224 L20.82 disease C16;C17;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005285 Pemphigus Foliaceus C0263313 L10.2 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 51 BXGD005286 Pemphigus and fogo selvagem C0263314 L10.3 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 26 BXGD005287 Pemphigus vegetans C0263316 L10.1 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005288 Grover's disease C0263325 L11.1 disease C23;C16;C17 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005289 Contact urticaria C0263333 L50.6 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005290 Chronic urticaria C0263338 L50.8 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 39 BXGD005291 Prurigo nodularis C0263353 L28.1 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD005292 Psoriasis vulgaris C0263361 L40.0 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 255 BXGD005293 Kobner phenomenon C0263367 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD005294 Gianotti-Crosti Syndrome C0263372 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005295 Lichen striatus C0263374 L44.2 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD005296 Keratosis pilaris C0263383 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Acquired Abnormality T020 Acquired Abnormality 30 BXGD005297 Confluent and Reticulate Papillomatosis C0263385 L83 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD005298 Cutis marmorata C0263401 disease C16;C04;C17;C14;C26 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system T047 Disease or Syndrome 80 BXGD005299 Telangiectasia macularis eruptiva perstans C0263402 D47.01 disease C04;C17;C14 Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD005300 Linear Scleroderma C0263409 L94.1 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD005301 Cutis verticis gyrata C0263417 disease Disease or Syndrome HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T047 Disease or Syndrome 4 BXGD005302 Reactive perforating collagenosis C0263419 L87.1 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD005303 Hyperkeratosis lenticularis perstans C0263420 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 18 BXGD005304 Burnett Schwartz Berberian syndrome C0263428 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0000152;HP:0003549 Abnormality of the integument; Abnormality of head or neck; Abnormality of connective tissue T047 Disease or Syndrome 5 BXGD005305 Atrophoderma vermiculatum C0263429 L66.4 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005306 Acne Conglobata C0263442 L70.1 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005307 Acne fulminans C0263445 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005308 Perioral Dermatitis C0263449 L71.0 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 1 BXGD005309 Chloracne C0263454 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 38 BXGD005310 Bromhidrosis C0263472 L75.0 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0025142 Constitutional symptom T047 Disease or Syndrome 2 BXGD005311 Female pattern alopecia (disorder) C0263477 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD005312 Ophiasis C0263478 L63.2 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005313 Clastothrix C0263485 L67.0 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 8 BXGD005314 Brittle hair C0263490 L67.8 disease Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 45 BXGD005315 Pili Torti C0263491 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 12 BXGD005316 Premature canities C0263498 L67.1 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 33 BXGD005317 Alopecia totalis C0263504 L63.0 disease C23;C17;C19 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 13 BXGD005318 Alopecia universalis C0263505 L63.1 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 19 BXGD005319 Perifolliculitis capitis abscedens C0263506 L66.3 disease C23;C16;C01;C17 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005320 Micronychia (disorder) C0263523 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 60 BXGD005321 Longitudinal split nail C0263530 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 8 BXGD005322 Hypertrophy of nail C0263536 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 2 BXGD005323 Onychogryposis C0263537 L60.2 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 17 BXGD005324 Clubbing of nail C0263538 R68.3 phenotype C17 Skin and Connective Tissue Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD005325 Pyramidal disease C0263548 disease C17;C05;F03;C26 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Mental Disorders; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 2 BXGD005326 Chronic ulcer of lower extremity C0263560 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005327 Pigmented hairy epidermal nevus C0263579 disease C16;C04;C17;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD005328 Ichthyosis hystrix C0263580 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005329 Idiopathic guttate hypomelanosis C0263583 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005330 Early radiation dermatitis C0263606 L58.0 disease C17;C26 Skin and Connective Tissue Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 3 BXGD005331 Solar urticaria C0263610 L56.3 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system T047 Disease or Syndrome 1 BXGD005332 Subcutaneous calcification C0263625 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0000924 Abnormality of the integument; Abnormality of the skeletal system T047 Disease or Syndrome 4 BXGD005333 Calcinosis universalis C0263627 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 2 BXGD005334 Tumoral calcinosis C0263628 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 45 BXGD005335 Hypertrophic disorder of skin, unspecified C0263630 L91 group C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 62 BXGD005336 Abnormal granulation tissue C0263634 phenotype C17 Skin and Connective Tissue Diseases Sign or Symptom T184 Sign or Symptom 6 BXGD005337 Epithelial hyperplasia of skin C0263641 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 79 BXGD005338 Disorder of skeletal system C0263661 group C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 25 BXGD005339 Disseminated eosinophilic collagen disease C0263662 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD005340 Generalized morphea C0263664 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005341 Dermatomyositis, Childhood Type C0263666 M33.0 disease C17;C05;C10 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 62 BXGD005342 Chronic arthropathy C0263675 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005343 Acute arthritis C0263678 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD005344 Chronic arthritis C0263680 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 30 BXGD005345 Hemophilic arthropathy C0263725 M36.2 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 22 BXGD005346 Osteoarthritis of the hand C0263746 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 61 BXGD005347 Coxitis C0263776 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005348 Chronic osteoarthritis C0263778 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005349 Interphalangeal osteoarthritis C0263779 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005350 Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome C0263859 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 15 BXGD005351 Narrowing of intervertebral disc space C0263870 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding HP:0000924 Abnormality of the skeletal system T033 Finding 4 BXGD005352 Degeneration of lumbar intervertebral disc C0263874 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 50 BXGD005353 Back disorder C0263888 group C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005354 Rotator cuff syndrome C0263912 M75.1 disease C26 Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 54 BXGD005355 Proliferative synovitis C0263949 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005356 Disorder of soft tissue C0263978 M79.9 group C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD005357 Polymyositis Ossificans C0263984 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD005358 Exertional rhabdomyolysis (disorder) C0263992 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005359 Knuckle pads C0264000 M72.1 disease C17;C05 Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005360 Eosinophilic Fasciitis C0264005 disease C05;C15 Musculoskeletal Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0003549 Abnormality of the immune system; Abnormality of connective tissue T047 Disease or Syndrome 5 BXGD005361 Osteodystrophy C0264009 Q78.9 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality DOID:7 disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 7 BXGD005362 Hepatic osteodystrophy C0264010 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD005363 Juvenile osteoporosis C0264080 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD005364 Osteoarthropathy of fingers familial C0264081 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005365 Calcaneal apophysitis C0264097 M92.8 disease C17;C05 Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005366 Atrophy, Disuse C0264122 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD005367 Acquired flat foot C0264133 M21.4 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality HP:0040064 Abnormality of limbs T020 Acquired Abnormality 4 BXGD005368 Spade-like hand C0264142 disease C05 Musculoskeletal Diseases Congenital Abnormality HP:0040064 Abnormality of limbs T019 Congenital Abnormality 24 BXGD005369 Camptocormia C0264162 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Acquired Abnormality HP:0000924 Abnormality of the skeletal system T020 Acquired Abnormality 8 BXGD005370 Saddle nose C0264169 phenotype C08;C09 Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 10 BXGD005371 Barrel chest C0264172 phenotype C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding HP:0000924 Abnormality of the skeletal system T033 Finding 18 BXGD005372 Degenerative spondylolisthesis C0264184 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD005373 Pelvic obliquity C0264192 phenotype C05 Musculoskeletal Diseases Acquired Abnormality T020 Acquired Abnormality 3 BXGD005374 Acute respiratory disease C0264219 group C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD005375 Chronic disease of respiratory system C0264220 J98.9 group C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD005376 Acute upper respiratory infection C0264222 J06.9 disease C23;C01;C08 Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005377 Hypertrophic rhinitis C0264270 disease C01;C08;C09 Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005378 Purulent rhinitis C0264272 phenotype C23;C01;C08;C09 Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Sign or Symptom HP:0000152 Abnormality of head or neck T184 Sign or Symptom 3 BXGD005379 Laryngomalacia C0264303 disease C16;C17;C05;C08;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality HP:0002086 Abnormality of the respiratory system T019 Congenital Abnormality 67 BXGD005380 Laryngeal Obstruction C0264306 phenotype C08;C09 Respiratory Tract Diseases; Otorhinolaryngologic Diseases Pathologic Function HP:0002086 Abnormality of the respiratory system T046 Pathologic Function 2 BXGD005381 Calcification of trachea C0264324 disease C18;C08 Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome HP:0002086;HP:0000924 Abnormality of the respiratory system; Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD005382 Bronchomalacia C0264353 disease C16;C17;C05;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system T047 Disease or Syndrome 10 BXGD005383 Childhood bronchiectasis C0264356 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005384 Organized pneumonia C0264383 J84.89 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD005385 Panacinar Emphysema C0264393 J43.1 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD005386 Paraseptal emphysema C0264394 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005387 Childhood asthma C0264408 J45.90 disease C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 303 BXGD005388 Late onset asthma C0264413 J45.90 disease C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD005389 Asthma, Occupational C0264423 disease C08;C20;C24 Respiratory Tract Diseases; Immune System Diseases; Occupational Diseases Disease or Syndrome T047 Disease or Syndrome 42 BXGD005390 Mixed dust pneumoconiosis C0264436 disease C08;C24 Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005391 Sequoiosis C0264478 J67.8 disease C23;C01;C08;C20 Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD005392 Bakers' asthma C0264480 disease C23;C01;C08;C20;C24 Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Occupational Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD005393 Chronic nonspecific lung disease C0264487 disease C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005394 Acute respiratory failure C0264490 J96.0 disease C23;C18;C08 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 78 BXGD005395 Chronic respiratory failure C0264492 J96.1 disease C18;C08 Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD005396 Lymphoid interstitial pneumonia C0264511 J84.2 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system T047 Disease or Syndrome 17 BXGD005397 Pneumonia, Necrotizing C0264515 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005398 Adhesion of pleura C0264542 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005399 Adhesion of lung C0264544 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD005400 Thickening of pleura C0264545 J92 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system T047 Disease or Syndrome 25 BXGD005401 Pleural effusion associated with pulmonary infection C0264550 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD005402 Pleurisy with effusion C0264551 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005403 Apraxia of Phonation C0264611 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 30 BXGD005404 Psychogenic voice disorder C0264622 F44.4 disease C23;C08;C10;F03;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005405 Low-renin essential hypertension C0264638 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005406 High-renin essential hypertension C0264639 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005407 Endocrine hypertension C0264641 disease C19;C14 Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005408 Hypertensive heart failure C0264652 I11.0 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD005409 Renal sclerosis with hypertension C0264657 disease C13;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 29 BXGD005410 Coronary artery atheroma C0264683 I25.1 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD005411 Coronary arteritis C0264684 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD005412 Acute coronary insufficiency C0264693 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD005413 Chronic myocardial ischemia C0264694 I25.9 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 29 BXGD005414 Subendocardial ischemia C0264695 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005415 Acute Inferior Myocardial Infarction C0264700 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005416 Acute heart failure C0264714 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 89 BXGD005417 Chronic heart failure C0264716 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 223 BXGD005418 Acute congestive heart failure C0264719 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005419 Chronic congestive heart failure C0264722 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD005420 Acute left-sided heart failure C0264725 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005421 Cardiac dilatation C0264732 I51.7 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005422 Ventricular dilatation (disorder) C0264733 I51.7 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD005423 Atrial dilatation C0264734 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD005424 Rheumatic disease of heart valve C0264757 disease C01;C17;C05;C14 Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD005425 Rheumatic disease of mitral valve C0264765 I05 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD005426 Rheumatic mitral stenosis C0264766 I05.0 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD005427 Mitral and aortic incompetence C0264774 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD005428 Familial cardiomyopathy C0264789 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD005429 Dilated cardiomyopathy secondary to viral myocarditis C0264797 B33.24 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005430 Dilated cardiomyopathy secondary to metabolic disorder C0264802 disease C18;C14 Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD005431 Giant cell myocarditis C0264856 I40.1 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD005432 Conduction disorder of the heart C0264886 I45.9 group C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 41 BXGD005433 Nodal rhythm disorder C0264893 I49.8 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 12 BXGD005434 Second degree atrioventricular block C0264906 I44.1 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 5 BXGD005435 Left anterior fascicular block C0264912 I44.4 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 4 BXGD005436 Left posterior fascicular block C0264913 I44.5 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 3 BXGD005437 Secondary pulmonary hypertension C0264936 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD005438 Systemic Vasculitis C0264939 phenotype C14 Cardiovascular Diseases Finding T033 Finding 1 BXGD005439 Burn shock C0264949 phenotype C23;C26 Pathological Conditions, Signs and Symptoms; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 2 BXGD005440 Arteriovascular degeneration C0264954 I70 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD005441 Idiopathic arterial calcification of infancy C0264955 disease C18;C14 Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD005442 Atheroma C0264956 I70 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function DOID:7 disease of anatomical entity T046 Pathologic Function 5 BXGD005443 Periarteritis C0264988 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005444 Occlusion of artery (disorder) C0264995 phenotype Pathologic Function HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T046 Pathologic Function 3 BXGD005445 Ulcer of artery C0265000 I77.2 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005446 Dilatation of aorta C0265004 I71.9 phenotype C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 39 BXGD005447 Aortocaval fistula C0265008 disease C14 Cardiovascular Diseases Anatomical Abnormality T190 Anatomical Abnormality 6 BXGD005448 Ruptured thoracic aortic aneurysm C0265010 I71.1 disease C08;C14;C26 Respiratory Tract Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD005449 Ruptured abdominal aortic aneurysm C0265012 I71.3 disease C14;C26 Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD005450 Capillary hyperpermeability C0265025 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD005451 Capillary thrombosis C0265026 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005452 Basilar artery occlusion C0265098 I65.1 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Anatomical Abnormality DOID:7 disease of anatomical entity T190 Anatomical Abnormality 4 BXGD005453 Basilar artery thrombosis C0265099 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005454 Carotid artery occlusion C0265101 phenotype C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 74 BXGD005455 Cerebral Vasospasm C0265110 G45.9 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 48 BXGD005456 Progressing stroke C0265113 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005457 Chronic cerebral ischemia C0265116 I67.82 disease C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD005458 Disorder of pericardium C0265122 I31.9 disease C23;C08;C14 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005459 Chronic acquired lymphedema C0265191 I89.0 disease C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD005460 De Sanctis-Cacchione syndrome C0265201 disease C23;C16;C04;C18;C17;C05;C10;C19;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD005461 Seckel syndrome C0265202 Q87.19 disease C23;C16;C05;C10;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225;DOID:150 genetic disease; disease of anatomical entity; syndrome; disease of mental health T047 Disease or Syndrome 56 BXGD005462 Robinow Syndrome C0265205 Q87.19 disease C16;C13;C05;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225;DOID:150 genetic disease; disease of anatomical entity; syndrome; disease of mental health T047 Disease or Syndrome 20 BXGD005463 Weaver syndrome C0265210 Q87.3 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 8 BXGD005464 Distal arthrogryposis syndrome C0265213 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0000924;HP:0003549;HP:0003011 Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature DOID:7 disease of anatomical entity T047 Disease or Syndrome 22 BXGD005465 Meckel-Gruber syndrome C0265215 Q61.9 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 26 BXGD005466 X-linked hydrocephalus syndrome C0265216 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 20 BXGD005467 Neu-Laxova syndrome C0265218 disease C23;C16;C13;C17;C05;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 10 BXGD005468 Miller Dieker syndrome C0265219 Q93.88 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 182 BXGD005469 Pallister-Hall syndrome C0265220 disease C16;C04;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 10 BXGD005470 Walker-Warburg congenital muscular dystrophy C0265221 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 21 BXGD005471 Cohen syndrome C0265223 disease C23;C16;C18;C11;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Congenital Abnormality T019 Congenital Abnormality 10 BXGD005472 Freeman-Sheldon syndrome C0265224 Q87.0 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 26 BXGD005473 Schinzel-Giedion syndrome C0265227 disease C23;C16;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 5 BXGD005474 Cryptophthalmos syndrome C0265233 Q87.0 disease C16;C13;C11;C05;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 8 BXGD005475 Branchio-Oto-Renal Syndrome C0265234 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 14 BXGD005476 Marshall syndrome C0265235 disease C23;C16;C11;C05;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 2 BXGD005477 Wildervanck's syndrome C0265239 disease C16;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005478 Goldenhar Syndrome C0265240 Q87.0 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 21 BXGD005479 Nager syndrome C0265245 disease C16;C11;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD005480 Townes syndrome C0265246 disease C23;C16;C06;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 4 BXGD005481 Ruvalcaba Syndrome C0265248 disease C23;C16;C17;C05;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005482 Oto-Palato-digital syndrome type 1 C0265251 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005483 Coffin-Lowry syndrome C0265252 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 23 BXGD005484 Stickler syndrome (disorder) C0265253 disease C23;C16;C11;C05 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD005485 Trichorhinophalangeal syndrome C0265255 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD005486 Genee-Wiedemann syndrome C0265257 disease C16;C11;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD005487 Popliteal pterygium syndrome C0265259 disease C16;C13;C11;C05;C12;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 20 BXGD005488 Chondrodysplasia, Grebe type C0265260 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD005489 Multiple pterygium syndrome C0265261 disease C23;C16;C17 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality DOID:630;DOID:225 genetic disease; syndrome T019 Congenital Abnormality 9 BXGD005490 Holt-Oram syndrome C0265264 Q87.2 disease C16;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 28 BXGD005491 Aase syndrome C0265265 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005492 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects C0265267 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD005493 Adams Oliver syndrome C0265268 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 9 BXGD005494 Lacrimoauriculodentodigital syndrome C0265269 disease C23;C16;C11;C05;C10;C07;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD005495 Jeune thoracic dystrophy C0265275 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 29 BXGD005496 Kniest dysplasia C0265279 disease C16;C17;C05;C08;C19;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Endocrine System Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD005497 Spondylometaphyseal dysplasia, Kozlowski type C0265280 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD005498 Metatropic dwarfism C0265281 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 1 BXGD005499 Atelosteogenesis, type 1 C0265283 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 4 BXGD005500 Dyggve-Melchior-Clausen syndrome C0265286 disease C23;C16;C05;C10;C19;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 8 BXGD005501 Acromicric Dysplasia C0265287 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 21 BXGD005502 Metaphyseal chondrodysplasia Schmid type C0265289 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD005503 Metaphyseal chondrodysplasia C0265290 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 20 BXGD005504 Schwartz-Lelek syndrome C0265292 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD005505 Frontometaphyseal dysplasia C0265293 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 4 BXGD005506 Pyle metaphyseal dysplasia C0265294 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T047 Disease or Syndrome 25 BXGD005507 Jansen type metaphyseal chondrodysplasia C0265295 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD005508 Sclerosteosis C0265301 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD005509 Greig cephalopolysyndactyly syndrome C0265306 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:630;DOID:7;DOID:150 genetic disease; disease of anatomical entity; disease of mental health T019 Congenital Abnormality 14 BXGD005510 Baller-Gerold syndrome C0265308 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD005511 Leri-Weill dyschondrosteosis C0265309 disease C23;C16;C05 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD005512 Weill-Marchesani syndrome C0265313 disease C16;C11;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD005513 Neurocutaneous Syndromes C0265316 Q85.9 disease C16;C17;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 28 BXGD005514 Fibrous skin tumor of tuberous sclerosis C0265319 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process HP:0001574;HP:0002664;HP:0000152 Abnormality of the integument; Neoplasm; Abnormality of head or neck T191 Neoplastic Process 20 BXGD005515 Peutz-Jeghers polyps of small bowel C0265323 disease C16;C06;C04;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 1 BXGD005516 Turcot syndrome (disorder) C0265325 disease C16;C06;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 77 BXGD005517 Bannayan-Riley-Ruvalcaba Syndrome C0265326 E71.440 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD005518 Organoid Nevus Phakomatosis C0265329 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 7 BXGD005519 Tricho-dento-osseous syndrome (disorder) C0265333 disease C16;C17;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD005520 Pachyonychia Congenita C0265334 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 18 BXGD005521 Senter syndrome C0265336 disease C23;C16;C11;C17;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 4 BXGD005522 Coffin-Siris syndrome C0265338 disease C23;C16;C05;C10;F03;C07;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:225;DOID:150 genetic disease; syndrome; disease of mental health T047 Disease or Syndrome 56 BXGD005523 Borjeson-Forssman-Lehmann syndrome C0265339 disease C23;C16;C18;C10;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 9 BXGD005524 Rieger syndrome C0265341 Q13.81 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:630 genetic disease T047 Disease or Syndrome 23 BXGD005525 Cerebrocostomandibular Syndrome C0265342 disease C23;C16;C05;C10;F03;C07;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD005526 Jarcho-Levin syndrome C0265343 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD005527 Donohue Syndrome C0265344 disease C16;C18;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 15 BXGD005528 Lymphedema distichiasis syndrome C0265345 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 9 BXGD005529 CHARGE Syndrome C0265354 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 49 BXGD005530 Polysplenia Syndrome C0265357 disease C16;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality DOID:630;DOID:0080015 genetic disease; physical disorder T019 Congenital Abnormality 7 BXGD005531 Urethral obstruction sequence C0265363 disease C23;C16;C13;C12;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD005532 Fetal hydantoin syndrome C0265372 Q86.1 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 11 BXGD005533 Warfarin syndrome C0265374 Q86.2 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 4 BXGD005534 Chromosome 9, partial trisomy 9p C0265428 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 4 BXGD005535 Pallister-Killian syndrome C0265449 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 12 BXGD005536 Ring Chromosome 20 Syndrome C0265482 disease C23 Pathological Conditions, Signs and Symptoms Congenital Abnormality T019 Congenital Abnormality 3 BXGD005537 Trisomy 22 C0265490 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 5 BXGD005538 Cat eye syndrome C0265493 disease C23;C16;C11 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 32 BXGD005539 Tetrasomy X C0265496 disease C23;C16;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 2 BXGD005540 Congenital anomaly of skeletal bone C0265509 group C16;C13;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 8 BXGD005541 Dermatofibrosis lenticularis disseminata C0265514 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD005542 Plagiocephaly C0265529 Q67.3 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 74 BXGD005543 Scaphycephaly C0265534 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 43 BXGD005544 Trigonocephaly C0265535 Q75.0 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system DOID:7 disease of anatomical entity T019 Congenital Abnormality 52 BXGD005545 Cranioschisis C0265541 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 12 BXGD005546 Congenital macrodactylia C0265552 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 10 BXGD005547 Polysyndactyly C0265553 Q70.4 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 12 BXGD005548 Ectrodactyly C0265554 Q71.60 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 36 BXGD005549 Acheiropodia C0265559 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 2 BXGD005550 Congenital dislocation of radial head C0265563 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 27 BXGD005551 Longitudinal deficiency of radius C0265581 Q71.4 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD005552 Brachymetacarpia C0265593 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD005553 Congenital absence of hand C0265594 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 18 BXGD005554 Accessory carpal bones C0265609 Q74.0 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:630;DOID:7;DOID:0080015 genetic disease; disease of anatomical entity; physical disorder T019 Congenital Abnormality 2 BXGD005555 Clinodactyly of fingers C0265610 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 160 BXGD005556 Congenital absence of tibia C0265633 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 7 BXGD005557 Talipes Equinovalgus C0265642 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064 Abnormality of limbs T019 Congenital Abnormality 6 BXGD005558 Talipes Calcaneovarus C0265646 Q66.1 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064 Abnormality of limbs T019 Congenital Abnormality 2 BXGD005559 Tarsal Coalition C0265654 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 22 BXGD005560 Congenital hallux valgus C0265656 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 14 BXGD005561 Syndactyly of the toes C0265660 Q70.3 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 129 BXGD005562 Congenital dislocation of knee C0265669 Q68.2 disease C16;C05;C26 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 1 BXGD005563 Congenital kyphosis C0265673 Q76.41 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 54 BXGD005564 Congenital hemivertebra C0265677 Q76.49 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 49 BXGD005565 Supernumerary vertebra C0265681 Q76.49 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 2 BXGD005566 Congenital fusion of ribs C0265695 Q76.6 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 37 BXGD005567 Congenital hernia of foramen of Morgagni C0265699 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0003549;HP:0003011 Abnormality of connective tissue; Abnormality of the musculature T019 Congenital Abnormality 19 BXGD005568 Congenital hernia of foramen of Bochdalek C0265700 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0003549;HP:0003011 Abnormality of connective tissue; Abnormality of the musculature T019 Congenital Abnormality 21 BXGD005569 Congenital eventration of diaphragm C0265701 disease C16;C06;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD005570 Gastroschisis C0265706 Q79.3 disease C23;C16;C05 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:0080015 physical disorder T047 Disease or Syndrome 31 BXGD005571 Congenital anomaly of nose C0265736 Q30 disease C16;C08;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 6 BXGD005572 Arrhinia C0265740 Q30.1 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 2 BXGD005573 Congenital atresia of trachea C0265766 Q32.1 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality HP:0002086 Abnormality of the respiratory system T019 Congenital Abnormality 4 BXGD005574 Congenital absence of lung C0265780 Q33.3 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality T019 Congenital Abnormality 11 BXGD005575 Congenital hypoplasia of lung C0265783 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality HP:0002086 Abnormality of the respiratory system T019 Congenital Abnormality 175 BXGD005576 Congenital emphysema C0265797 disease C08 Respiratory Tract Diseases Congenital Abnormality T019 Congenital Abnormality 40 BXGD005577 Acyanotic congenital heart disease C0265807 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 7 BXGD005578 Cyanotic congenital heart disease C0265808 disease C16;C17;C08;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD005579 Congenital absence of pulmonic valve C0265831 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 1 BXGD005580 Congenital insufficiency of pulmonary valve C0265833 Q22.2 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD005581 Congenital atresia of aortic valve C0265843 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 1 BXGD005582 Uhl anomaly C0265857 Q24.8 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 4 BXGD005583 Congenital hypoplasia of aortic arch C0265881 disease C14 Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 4 BXGD005584 Kommerell's diverticulum C0265885 disease C08 Respiratory Tract Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 2 BXGD005585 Overriding aorta C0265886 disease C08;C14 Respiratory Tract Diseases; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 17 BXGD005586 Congenital atresia of pulmonary artery C0265908 Q25.5 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system T019 Congenital Abnormality 19 BXGD005587 Congenital hypoplasia of pulmonary artery C0265910 Q25.79 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system T019 Congenital Abnormality 4 BXGD005588 Venous malformation C0265950 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T019 Congenital Abnormality 38 BXGD005589 Erythrokeratodermia variabilis C0265961 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 13 BXGD005590 Ichthyosis linearis circumflexa C0265962 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality DOID:630 genetic disease T047;T019 Disease or Syndrome; Congenital Abnormality 64 BXGD005591 Mutilating keratoderma C0265964 disease C23;C16;C17;C05;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality DOID:630 genetic disease T019 Congenital Abnormality 9 BXGD005592 Dyskeratosis Congenita C0265965 disease C16;C17;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 58 BXGD005593 Porokeratosis, Disseminated Superficial Actinic C0265970 L56.5 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD005594 Acrokeratosis Verruciformis of Hopf C0265971 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 1 BXGD005595 Collagen nevus of skin C0265978 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD005596 Fibrous Hamartoma of Infancy C0265979 disease C16;C04;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0002664 Neoplasm T191 Neoplastic Process 3 BXGD005597 Mongolian Spot C0265985 disease C04 Neoplasms Neoplastic Process HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T191 Neoplastic Process 5 BXGD005598 Nevus comedonicus C0265987 disease C16;C04;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 31 BXGD005599 alopecia congenita C0265992 Q84.0 disease C23;C16;C17 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD005600 ANONYCHIA C0265998 Q84.3 disease C23 Pathological Conditions, Signs and Symptoms Congenital Abnormality HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T019 Congenital Abnormality 30 BXGD005601 Subungual fibroma C0266003 disease C16;C04;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm T191 Neoplastic Process 3 BXGD005602 Knuckle pads, leuconychia and sensorineural deafness C0266004 disease C23;C16;C17;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality DOID:630 genetic disease T019 Congenital Abnormality 1 BXGD005603 Pili torti-deafness syndrome C0266006 disease C23;C18;C17;C10;C09 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 14 BXGD005604 Congenital absence of breast C0266009 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0000769 Abnormality of the breast T019 Congenital Abnormality 15 BXGD005605 Accessory nipple C0266011 Q83.3 disease C17 Skin and Connective Tissue Diseases Congenital Abnormality HP:0000769 Abnormality of the breast T019 Congenital Abnormality 38 BXGD005606 Congenital hypoplasia of breast C0266013 N64.82 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0000769 Abnormality of the breast T019 Congenital Abnormality 38 BXGD005607 Congenital digestive system anomalies C0266015 Q45.9 group C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality HP:0025031 Abnormality of the digestive system T019 Congenital Abnormality 2 BXGD005608 Ectopic tooth C0266025 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 2 BXGD005609 Supernumerary mesiodens tooth C0266030 K00.1 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 5 BXGD005610 Macrodontia C0266036 K00.2 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 12 BXGD005611 Peg-shaped teeth C0266037 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 17 BXGD005612 Taurodontism C0266039 K00.2 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 40 BXGD005613 Failure of exfoliation of primary tooth C0266050 phenotype Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 12 BXGD005614 Precocious exfoliation of primary tooth C0266052 phenotype C07 Stomatognathic Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 20 BXGD005615 Premature tooth eruption C0266054 K00.6 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 12 BXGD005616 Posterior crossbite C0266059 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD005617 Anterior open bite C0266060 M26.220 disease C07 Stomatognathic Diseases Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 13 BXGD005618 Open Bite C0266061 phenotype C07 Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 38 BXGD005619 Posterior open bite C0266062 M26.221 phenotype C07 Stomatognathic Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD005620 Bifid tongue C0266111 Q38.3 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 24 BXGD005621 Congenital absence of uvula C0266121 Q38.5 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 4 BXGD005622 Cleft uvula C0266122 Q35.7 disease C16;C05;C08;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck DOID:225;DOID:0080015 syndrome; physical disorder T019 Congenital Abnormality 3 BXGD005623 Ectopic gastric tissue C0266153 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 4 BXGD005624 Pyloric Atresia C0266159 disease C06 Digestive System Diseases Congenital Abnormality T019 Congenital Abnormality 7 BXGD005625 Congenital duplication of intestine C0266166 Q43.4 disease Congenital Abnormality HP:0025031 Abnormality of the digestive system T019 Congenital Abnormality 2 BXGD005626 Duodenal atresia C0266174 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T019 Congenital Abnormality 39 BXGD005627 Congenital duodenal obstruction due to malrotation of intestine C0266184 disease C23;C16;C06 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality T019 Congenital Abnormality 5 BXGD005628 Congenital atresia of colon C0266190 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality HP:0025031 Abnormality of the digestive system T019 Congenital Abnormality 2 BXGD005629 Malrotation of colon C0266196 Q43.3 disease C23;C16;C06 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality HP:0025031 Abnormality of the digestive system T019 Congenital Abnormality 4 BXGD005630 Microcolon C0266200 Q43.8 disease C06 Digestive System Diseases Congenital Abnormality HP:0025031 Abnormality of the digestive system T019 Congenital Abnormality 11 BXGD005631 Congenital anomaly of rectum C0266210 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality HP:0025031 Abnormality of the digestive system T019 Congenital Abnormality 4 BXGD005632 Anorectal atresia C0266215 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality T019 Congenital Abnormality 4 BXGD005633 Ectopic anus C0266231 Q43.5 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality HP:0025031 Abnormality of the digestive system T019 Congenital Abnormality 20 BXGD005634 Congenital hypoplasia of bile duct C0266242 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD005635 Gallbladder anomaly congenital C0266249 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality HP:0025031 Abnormality of the digestive system T019 Congenital Abnormality 8 BXGD005636 Congenital absence of liver C0266258 Q44.7 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T019 Congenital Abnormality 25 BXGD005637 Congenital absence of pancreas C0266266 Q45.0 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD005638 Congenital hypoplasia of pancreas C0266267 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0025031 Abnormality of the digestive system T019 Congenital Abnormality 20 BXGD005639 Pancreas divisum C0266270 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0025031 Abnormality of the digestive system T019 Congenital Abnormality 4 BXGD005640 Congenital absence of adrenal gland C0266273 disease C16;C20;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Endocrine System Diseases Congenital Abnormality HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T019 Congenital Abnormality 2 BXGD005641 Ectopic adrenal gland C0266275 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0000818 Abnormality of the endocrine system T019 Congenital Abnormality 3 BXGD005642 Ectopic thyroid tissue (disorder) C0266283 phenotype Disease or Syndrome T047 Disease or Syndrome 8 BXGD005643 Congenital anomaly of the kidney C0266292 Q63.9 group C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 63 BXGD005644 Unilateral agenesis of kidney C0266294 Q60.0 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 69 BXGD005645 Congenital hypoplasia of kidney C0266295 Q60.5 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T019 Congenital Abnormality 96 BXGD005646 Accessory kidney C0266298 Q63.0 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 20 BXGD005647 Double kidney (disorder) C0266304 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 6 BXGD005648 Fused Kidney C0266305 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 1 BXGD005649 congenital lobulation of kidney C0266309 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 1 BXGD005650 Allanson Pantzar McLeod syndrome C0266313 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 8 BXGD005651 Congenital hydronephrosis C0266316 Q62.0 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality T019 Congenital Abnormality 15 BXGD005652 Megacalycosis C0266317 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD005653 Congenital dilatation of ureter C0266324 Q62.2 disease Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 3 BXGD005654 Congenital anomaly of the bladder C0266335 group C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD005655 Streak gonad C0266360 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality T019 Congenital Abnormality 9 BXGD005656 True Hermaphroditism (disorder) C0266361 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T019 Congenital Abnormality 27 BXGD005657 Ambiguous Genitalia C0266362 Q56.4 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 109 BXGD005658 Congenital absence of ovary C0266368 Q50.0 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 5 BXGD005659 Streak ovary C0266371 Q50.32 disease Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 21 BXGD005660 Uterine Anomalies C0266383 group C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 35 BXGD005661 Bicornuate uterus C0266387 Q51.3 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 44 BXGD005662 Congenital duplication of uterus C0266393 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 9 BXGD005663 Infantile uterus C0266399 Q51.811 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 43 BXGD005664 Septate vagina C0266411 Q52.10 disease C16;C13 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 6 BXGD005665 Testicular regression syndrome C0266427 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 37 BXGD005666 Polyorchism C0266430 Q55.21 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 1 BXGD005667 Leydig cell agenesis C0266432 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality T019 Congenital Abnormality 6 BXGD005668 Congenital hypoplasia of penis C0266435 Q55.62 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 237 BXGD005669 Congenital absence of vas deferens C0266444 disease Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 10 BXGD005670 Congenital anomaly of brain C0266449 Q04.9 group C16;C13;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 103 BXGD005671 Exencephaly C0266453 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 47 BXGD005672 Meningoencephalocele C0266456 Q01 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707;HP:0000152;HP:0000924 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 7 BXGD005673 Congenital absence of part of brain C0266461 Q04.3 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality DOID:630;DOID:7;DOID:225;DOID:150;DOID:0080015 genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder T019 Congenital Abnormality 2 BXGD005674 Congenital hypoplasia of part of brain C0266462 Q04.3 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality DOID:630;DOID:7;DOID:225;DOID:150;DOID:0080015 genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder T019 Congenital Abnormality 2 BXGD005675 Lissencephaly C0266463 Q04.3 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system DOID:630;DOID:7;DOID:225;DOID:150;DOID:0080015 genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder T019 Congenital Abnormality 71 BXGD005676 Polymicrogyria C0266464 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 199 BXGD005677 Congenital pontocerebellar hypoplasia C0266468 disease C10 Nervous System Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 32 BXGD005678 Cerebellar Hypoplasia C0266470 disease C16;C10;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 226 BXGD005679 Congenital stenosis of aqueduct of Sylvius C0266476 Q03.0 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 6 BXGD005680 Pachygyria C0266483 Q04.3 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system DOID:630;DOID:7;DOID:225;DOID:150;DOID:0080015 genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder T019 Congenital Abnormality 129 BXGD005681 Schizencephaly C0266484 Q04.6 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T019 Congenital Abnormality 10 BXGD005682 Etat Marbre C0266487 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 23 BXGD005683 Neuronal heterotopia C0266491 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 67 BXGD005684 Rachischisis C0266508 Q05 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T019 Congenital Abnormality 15 BXGD005685 Marcus Gunn phenomenon C0266521 Q07.8 disease C23;C16;C11;C05;C10;C07;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD005686 Irido-corneal dysgenesis C0266525 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 22 BXGD005687 Norrie disease C0266526 disease C23;C16;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality DOID:630 genetic disease T019 Congenital Abnormality 55 BXGD005688 Congenital lamellar cataract C0266537 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 18 BXGD005689 Congenital total cataract C0266539 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 16 BXGD005690 Microphakia C0266541 Q12.8 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 6 BXGD005691 Microcornea C0266544 Q13.4 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T019 Congenital Abnormality 129 BXGD005692 Axenfeld anomaly (disorder) C0266548 Q15.0 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 7 BXGD005693 Congenital coloboma of iris C0266551 Q13.0 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 148 BXGD005694 Persistent primary vitreous C0266559 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 2 BXGD005695 Persistent Hyperplastic Primary Vitreous C0266568 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T019 Congenital Abnormality 33 BXGD005696 Congenital ptosis C0266573 Q10.0 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T019 Congenital Abnormality 10 BXGD005697 Ablepharon C0266574 Q10.3 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 20 BXGD005698 Congenital ear anomaly NOS (disorder) C0266589 Q17.9 group C16;C13;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases Congenital Abnormality HP:0000598 Abnormality of the ear T019 Congenital Abnormality 137 BXGD005699 Preauricular dimple C0266610 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T019 Congenital Abnormality 40 BXGD005700 Congenital anomaly of face C0266617 group C16;C13;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 114 BXGD005701 Potter's facies C0266619 disease Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 9 BXGD005702 Congenital anomaly of neck C0266623 group C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 26 BXGD005703 Accessory spleen C0266631 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Congenital Abnormality HP:0025031;HP:0002715;HP:0001626 Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system T019 Congenital Abnormality 41 BXGD005704 Ectopic spleen C0266632 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0025031;HP:0002715;HP:0001626 Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system T019 Congenital Abnormality 1 BXGD005705 Situs ambiguus C0266642 disease C16;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality HP:0001507 Growth abnormality T019 Congenital Abnormality 55 BXGD005706 Abnormal fetus C0266652 phenotype C16;C13 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 2 BXGD005707 Cyclocephaly C0266667 Q87.0 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:630;DOID:7;DOID:225;DOID:0080015 genetic disease; disease of anatomical entity; syndrome; physical disorder T019 Congenital Abnormality 35 BXGD005708 Twin placenta C0266752 disease Anatomical Abnormality T190 Anatomical Abnormality 2 BXGD005709 Chorioallantoic placenta C0266757 disease Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD005710 Abnormal amniotic fluid C0266781 phenotype Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 8 BXGD005711 Abnormal yolk sac C0266782 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD005712 Abnormal umbilical cord C0266785 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality HP:0001197 Abnormality of prenatal development or birth T190 Anatomical Abnormality 1 BXGD005713 Short cord C0266786 phenotype Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 4 BXGD005714 Velamentous insertion of umbilical cord (disorder) C0266789 O43.12 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome HP:0001197 Abnormality of prenatal development or birth T047 Disease or Syndrome 2 BXGD005715 Compression of umbilical cord C0266798 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 5 BXGD005716 Acute gastrointestinal hemorrhage C0266807 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005717 Cow milk allergy C0266815 phenotype C06;C20 Digestive System Diseases; Immune System Diseases Disease or Syndrome HP:0002715 Abnormality of the immune system T047 Disease or Syndrome 38 BXGD005718 Visceral Myopathy, Familial C0266833 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005719 Infantile Colic C0266836 R10.83 phenotype C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Sign or Symptom T184 Sign or Symptom 3 BXGD005720 Hyperplastic gingivitis C0266913 K05.1 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD005721 Rapidly progressive periodontitis C0266928 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005722 Chronic Periodontitis C0266929 K05.30 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 287 BXGD005723 Derangement of temporomandibular joint C0266941 disease C05;C07 Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T047 Disease or Syndrome 1 BXGD005724 Torus palatinus C0266981 M27.0 phenotype C05;C07 Musculoskeletal Diseases; Stomatognathic Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD005725 Vesicular Stomatitis C0266999 K12.1 disease C01;C07;C22 Infections; Stomatognathic Diseases; Animal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 112 BXGD005726 Erythroplakia of mouth C0267008 disease Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 5 BXGD005727 Actinic cheilitis C0267026 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:14566 disease of cellular proliferation T047 Disease or Syndrome 64 BXGD005728 Glossoptosis C0267048 K14.8 disease C07 Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 25 BXGD005729 Erosive esophagitis C0267055 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD005730 Oropharyngeal Dysphagia C0267071 R13.12 disease C06;C09 Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0025031;HP:0000707;HP:0000152 Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of head or neck T047 Disease or Syndrome 43 BXGD005731 Leukoplakia of esophagus C0267095 disease C23;C06;C04 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T191 Neoplastic Process 1 BXGD005732 Gastric dysplasia C0267111 disease C06;C04 Digestive System Diseases; Neoplasms Disease or Syndrome T047 Disease or Syndrome 25 BXGD005733 Reflux gastritis C0267158 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005734 Superficial gastritis C0267159 disease C06;C07 Digestive System Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD005735 Gastroparesis with diabetes mellitus C0267176 disease C23;C06;C10;C19 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 21 BXGD005736 Intestinal metaplasia of gastric mucosa C0267187 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 35 BXGD005737 Gastric Antral Vascular Ectasia C0267211 disease C06;C14 Digestive System Diseases; Cardiovascular Diseases Acquired Abnormality DOID:7 disease of anatomical entity T020 Acquired Abnormality 7 BXGD005738 Duodenal perforation C0267356 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005739 Angiodysplasia of colon C0267370 K55.2 disease C06;C14 Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD005740 Primary intestinal lymphangiectasia C0267372 disease C16;C06;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005741 Intestinal hemorrhage NOS C0267373 K92.2 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function HP:0025031;HP:0001871;HP:0001626 Abnormality of the digestive system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T046 Pathologic Function 8 BXGD005742 Chronic colitis C0267375 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T047 Disease or Syndrome 57 BXGD005743 Crohn's disease of the ileum C0267380 K50.0 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 55 BXGD005744 Ischemic enteritis C0267395 K55.9 phenotype C23;C06;C14 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD005745 Acute ischemic colitis C0267398 phenotype C23;C06;C14 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005746 Mesenteric infarction C0267406 disease C06;C17 Digestive System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005747 Mesenteric Venous Thrombosis C0267412 phenotype C06;C14 Digestive System Diseases; Cardiovascular Diseases Pathologic Function HP:0001871 Abnormality of blood and blood-forming tissues T046 Pathologic Function 3 BXGD005748 Noninfectious colitis C0267430 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005749 Acute gastroenteritis C0267446 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 36 BXGD005750 Eosinophilic colitis C0267448 K52.82 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005751 Necrotic enteritis C0267454 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD005752 Villous atrophy of intestine C0267456 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 19 BXGD005753 Stenosis of intestine C0267465 K56.69 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD005754 Ulceration of colon C0267491 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 2 BXGD005755 Chronic idiopathic constipation C0267509 K59.04 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD005756 Typhlitis C0267537 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD005757 Typhlocolitis C0267541 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD005758 Ileocolic intussusception C0267548 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005759 Osmotic diarrhea C0267556 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005760 Secretory diarrhea C0267557 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 19 BXGD005761 Perianal fistula C0267561 disease C23;C06;C17 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Skin and Connective Tissue Diseases Anatomical Abnormality T190 Anatomical Abnormality 7 BXGD005762 Descending perineum syndrome C0267602 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005763 Childhood celiac disease C0267642 disease C06;C18 Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD005764 Congenital chloride diarrhea C0267662 disease C23;C16;C18 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD005765 Congenital secretory diarrhea, sodium type (disorder) C0267663 disease C23;C16;C18 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 18 BXGD005766 Bilateral inguinal hernia C0267672 K40.20 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 2 BXGD005767 Incisional hernia C0267716 K43.2 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0025031;HP:0003549 Abnormality of the digestive system; Abnormality of connective tissue T046 Pathologic Function 1 BXGD005768 Paraesophageal hernia C0267725 K44 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD005769 Acute peritonitis C0267750 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 10 BXGD005770 Abscess of peritoneum C0267756 K65.1 phenotype C23;C06;C01 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T047 Disease or Syndrome 9 BXGD005771 Retractile Mesenteritis C0267770 K65.4 disease C06;C17 Digestive System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005772 Retroperitoneal mass C0267771 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD005773 Adhesion of intestine C0267778 K66.0 disease C06 Digestive System Diseases Acquired Abnormality T020 Acquired Abnormality 6 BXGD005774 Leiomyomatosis peritonealis disseminata C0267785 disease C06;C04;C13 Digestive System Diseases; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 2 BXGD005775 Hepatobiliary disease C0267792 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD005776 Subacute hepatic necrosis C0267795 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005777 Acute hepatitis C0267797 B17.9 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T047 Disease or Syndrome 62 BXGD005778 Lupus hepatitis C0267807 disease C06;C17;C20 Digestive System Diseases; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005779 Cirrhosis, Cryptogenic C0267809 K74.69 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD005780 Micronodular cirrhosis C0267812 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 18 BXGD005781 Bile duct proliferation C0267818 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 30 BXGD005782 Acute toxic hepatitis C0267827 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005783 Liver Abscess, Pyogenic C0267830 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD005784 Liver cyst C0267834 disease C23;C06;C04 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 26 BXGD005785 Hepatic amyloidosis C0267839 disease C06;C18 Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome HP:0025031;HP:0001939 Abnormality of the digestive system; Abnormality of metabolism/homeostasis T047 Disease or Syndrome 4 BXGD005786 Acute cholecystitis without calculus C0267842 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005787 Mirizzi Syndrome C0267878 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD005788 Acute cholangitis C0267917 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD005789 Chronic cholangitis C0267918 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD005790 Primary cholangitis C0267919 K83.09 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005791 Suppurative cholangitis C0267924 K83.09 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD005792 Acute recurrent pancreatitis C0267937 K85 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD005793 Pancreatitis, Acute Necrotizing C0267941 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 62 BXGD005794 Fibrosis of pancreas C0267952 K86.89 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 72 BXGD005795 Necrosis of pancreas C0267953 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD005796 Exocrine pancreatic insufficiency C0267963 K86.81 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 82 BXGD005797 Pancreatic acinar atrophy C0267964 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005798 Storage disease C0267971 group C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 28 BXGD005799 Hyperproteinemia C0267988 disease C23;C18;C15 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 3 BXGD005800 Adult-onset obesity C0267990 disease C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD005801 Hyperosmolality C0268009 disease C23;C18;C13;C12;C10 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD005802 Chronic hypokalemia C0268016 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005803 Hyperkalemia, diminished renal excretion C0268024 phenotype C06;C18;C13;C12 Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T046 Pathologic Function 6 BXGD005804 Ketoacidosis due to acute alcohol intoxication C0268039 disease C18;C25;F03 Nutritional and Metabolic Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD005805 Neonatal hemochromatosis C0268059 P78.84 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 13 BXGD005806 Juvenile hemochromatosis C0268060 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 18 BXGD005807 Hepatic hemosiderosis C0268066 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005808 Hypocupremia C0268070 E61.0 disease Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 23 BXGD005809 Hypercupremia C0268072 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD005810 Indian childhood cirrhosis C0268074 disease C23;C06;C08 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 67 BXGD005811 Hypophosphaturia C0268077 phenotype C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T047 Disease or Syndrome 2 BXGD005812 Hyperphosphaturia C0268079 phenotype C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T047 Disease or Syndrome 25 BXGD005813 Hypercalcemia, Idiopathic, of Infancy C0268080 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005814 Keshan disease C0268095 E59 disease C01;C14 Infections; Cardiovascular Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 17 BXGD005815 Disorder of purine metabolism C0268104 group C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD005816 Chronic gouty arthritis C0268108 M1A disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005817 Chronic tophaceous gout C0268109 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005818 Familial juvenile gout C0268113 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005819 Gout, HPRT-Related C0268117 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD005820 Xanthinuria, Type I C0268118 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD005821 Combined molybdoflavoprotein enzyme deficiency C0268119 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 13 BXGD005822 Adenine phosphoribosyltransferase deficiency C0268120 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD005823 APRT deficiency, Japanese type C0268121 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005824 Muscle AMP deaminase deficiency C0268123 E79.2 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005825 Adenosine deaminase deficiency C0268124 D81.30 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 17 BXGD005826 Purine-nucleoside phosphorylase deficiency C0268125 D81.5 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD005827 Adenylosuccinate lyase deficiency (disorder) C0268126 disease C16;C18;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD005828 Orotic aciduria C0268128 phenotype C16;C18;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 6 BXGD005829 Hereditary orotic aciduria, type 1 C0268130 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD005830 DNA Repair-Deficiency C0268134 phenotype C18 Nutritional and Metabolic Diseases Pathologic Function T046 Pathologic Function 2 BXGD005831 Xeroderma pigmentosum, group A C0268135 disease C16;C04;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 48 BXGD005832 Xeroderma pigmentosum, group B C0268136 disease C16;C04;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 13 BXGD005833 Xeroderma Pigmentosum, Complementation Group D C0268138 disease C16;C04;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 70 BXGD005834 Xeroderma pigmentosum, group F C0268140 disease C16;C04;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality DOID:630 genetic disease T019 Congenital Abnormality 8 BXGD005835 Xeroderma pigmentosum, group G C0268141 disease C16;C04;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 20 BXGD005836 Glucose-6-phosphate transport defect C0268146 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 9 BXGD005837 Glycogen storage disease, type IX C0268147 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD005838 Classical galactosemia C0268151 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 32 BXGD005839 Classical galactosemia, homozygous Duarte-type C0268152 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005840 Deficiency of galactokinase C0268155 E74.29 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 6 BXGD005841 Galactosuria C0268157 phenotype Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T047 Disease or Syndrome 4 BXGD005842 Deficiency of fructokinase C0268160 E74.11 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005843 Pentosuria C0268162 E74.89 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD005844 Primary hyperoxaluria, type I C0268164 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 27 BXGD005845 Primary hyperoxaluria type 2 C0268165 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD005846 Lactase Deficiency, Congenital C0268179 E73.0 phenotype C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Pathologic Function T046 Pathologic Function 1 BXGD005847 Lactose Intolerance, Adult Type C0268181 disease C16;C06;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 7 BXGD005848 Congenital glucose-galactose malabsorption C0268186 E74.39 disease C16;C06;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 19 BXGD005849 alpha, alpha-Trehalase deficiency C0268187 disease C23;C16;C18 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005850 NADH cytochrome B5 reductase deficiency C0268193 D74.0 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 7 BXGD005851 Phosphoenolpyruvate carboxykinase deficiency C0268194 E74.4 disease C16;C06;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD005852 Familial lipoprotein deficiency C0268197 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005853 Familial apolipoprotein C-II deficiency C0268199 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD005854 Maroteaux-Lamy syndrome, mild form C0268218 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005855 Fucosidosis Type I C0268221 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005856 Fucosidosis Type II C0268222 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005857 Aspartylglucosaminuria C0268225 E77.1 phenotype C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 9 BXGD005858 Type I Mucolipidosis C0268226 E77.1 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 10 BXGD005859 Neuraminidase 1 deficiency C0268228 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD005860 GALACTOSIALIDOSIS C0268233 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 12 BXGD005861 Cytochrome-c Oxidase Deficiency C0268237 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality DOID:0014667;DOID:630 disease of metabolism; genetic disease T047;T019 Disease or Syndrome; Congenital Abnormality 65 BXGD005862 Triglyceride storage disease with ichthyosis C0268238 disease C16;C18;C17;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 41 BXGD005863 Pancreatic triacylglycerol lipase deficiency C0268240 disease C16;C06;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005864 Niemann-Pick Disease, Type A C0268242 E75.240 disease C16;C18;C10;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 7 BXGD005865 Niemann-Pick Disease, Type B C0268243 E75.241 disease C16;C18;C10;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 9 BXGD005866 Niemann-Pick Disease, Type D C0268247 E75.243 disease C16;C18;C10;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD005867 Niemann-Pick Disease, Type E C0268248 disease C16;C18;C10;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD005868 Gaucher Disease, Type 2 (disorder) C0268250 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 6 BXGD005869 Gaucher Disease, Type 3 (disorder) C0268251 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 18 BXGD005870 Late-Onset Globoid Cell Leukodystrophy C0268252 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005871 Farber Lipogranulomatosis C0268255 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 7 BXGD005872 Metachromatic Leukodystrophy due to Saposin B Deficiency C0268262 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD005873 Multiple Sulfatase Deficiency Disease C0268263 E75.26 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 11 BXGD005874 Gangliosidosis, Generalized GM1, Type 1 (disorder) C0268271 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD005875 Gangliosidosis, Generalized GM1, Type 2 C0268272 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD005876 Gangliosidosis, Generalized GM1, Type 3 C0268273 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD005877 Gangliosidoses, GM2 C0268274 E75.0 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 18 BXGD005878 Tay-Sachs Disease, AB Variant C0268275 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD005879 Juvenile GM 2 gangliosidosis C0268276 E75.09 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005880 Infantile GM 2 gangliosidosis C0268278 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005881 Lipofuscinosis C0268279 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005882 Infantile neuronal ceroid lipofuscinosis C0268281 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 22 BXGD005883 Adrenal hyperplasia, congenital, type 5 C0268285 disease C16;C18;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 7 BXGD005884 Deficiency of steroid 21-monooxygenase C0268287 disease C16;C18;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality T019 Congenital Abnormality 54 BXGD005885 Mild steroid 21-hydroxylase deficiency C0268288 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005886 Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency C0268292 disease C16;C18;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 11 BXGD005887 Corticosterone Methyl Oxidase Type I Deficiency C0268293 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005888 17-Hydroxysteroid Dehydrogenase Deficiency C0268296 disease C16;C18;C13;C17;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD005889 Pseudovaginal Perineoscrotal Hypospadias C0268297 disease C16;C18;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD005890 Reifenstein Syndrome C0268301 E34.52 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD005891 Unconjugated hyperbilirubinemia C0268306 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 23 BXGD005892 Conjugated hyperbilirubinemia C0268307 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 32 BXGD005893 Inherited disorder of bilirubin metabolism C0268309 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005894 Progressive intrahepatic cholestasis (disorder) C0268312 disease C23;C16;C06;C18;C17 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 31 BXGD005895 Cholestasis-edema syndrome, Norwegian type C0268314 disease C06;C15 Digestive System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 14 BXGD005896 Cholestasis of pregnancy C0268318 disease C06;C13 Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 100 BXGD005897 Familial porphyria cutanea tarda C0268323 disease C16;C06;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD005898 Porphobilinogen synthase deficiency C0268328 disease C16;C06;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 6 BXGD005899 Ehlers-Danlos syndrome type 1 C0268335 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD005900 Ehlers-Danlos syndrome type 2 C0268336 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005901 Ehlers-Danlos syndrome, type 3 (disorder) C0268337 Q79.62 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD005902 Ehlers-Danlos Syndrome, Type IV C0268338 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD005903 Ehlers-Danlos syndrome type 5 C0268341 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005904 Ehlers-Danlos syndrome type 6 C0268342 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD005905 Ehlers-Danlos syndrome 6B C0268344 disease C16;C11;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD005906 EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE C0268345 disease C16;C18;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005907 Ehlers-Danlos Syndrome, Type VIII C0268347 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005908 Cutis Laxa, Autosomal Dominant C0268350 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD005909 Cutis laxa, x-linked C0268353 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality DOID:0014667;DOID:630 disease of metabolism; genetic disease T019 Congenital Abnormality 22 BXGD005910 De Barsy syndrome C0268354 disease C23;C16;C11;C17;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD005911 Osteogenesis imperfecta with blue sclerae AND normal teeth C0268356 disease C16;C06;C11;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005912 Osteogenesis imperfecta, type 1A C0268357 disease C16;C17;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD005913 Osteogenesis imperfecta, dominant perinatal lethal C0268358 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 8 BXGD005914 Osteogenesis imperfecta, recessive perinatal lethal C0268360 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality DOID:7 disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 2 BXGD005915 Osteogenesis imperfecta type III (disorder) C0268362 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 18 BXGD005916 Osteogenesis imperfecta type IV (disorder) C0268363 disease Disease or Syndrome; Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 12 BXGD005917 Marfanoid hypermobility syndrome C0268365 disease C16;C17;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005918 Adult junctional epidermolysis bullosa (disorder) C0268374 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD005919 Autosomal dominant epidermolysis bullosa simplex C0268375 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005920 Pseudocholinesterase deficiency C0268379 disease C23;C16;C18;C08 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005921 Systemic amyloidosis C0268380 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 21 BXGD005922 Primary amyloidosis C0268381 disease C04;C18;C20 Neoplasms; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 59 BXGD005923 Amyloid nephropathy C0268382 disease C23;C18;C13;C12 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T047 Disease or Syndrome 20 BXGD005924 Familial amyloid polyneuropathy, type VI C0268383 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005925 Familial Amyloid Neuropathy, Portuguese Type C0268384 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD005926 Familial Amyloid Polyneuropathy, Jewish Type C0268385 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005927 Amyloid Polyneuropathy, Swiss Type C0268386 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005928 Amyloidosis, familial visceral C0268389 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 8 BXGD005929 Muckle-Wells Syndrome C0268390 M04.2 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 34 BXGD005930 Localized amyloidosis C0268392 E85.4 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD005931 Familial Cerebral Amyloid Angiopathy C0268393 disease C16;C18;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 18 BXGD005932 Amyloidosis, Primary Cutaneous C0268397 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:7 disease of metabolism; disease of anatomical entity T047 Disease or Syndrome 9 BXGD005933 Familial lichen amyloidosis C0268398 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:7 disease of metabolism; disease of anatomical entity T047 Disease or Syndrome 230 BXGD005934 Hemodialysis-associated amyloidosis C0268405 E85.3 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005935 Age-related amyloidosis C0268406 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD005936 Senile cardiac amyloidosis C0268407 disease C18;C14 Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome HP:0001939;HP:0001626 Abnormality of metabolism/homeostasis; Abnormality of the cardiovascular system T047 Disease or Syndrome 33 BXGD005937 Infantile hypophosphatasia C0268412 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system DOID:630 genetic disease T047 Disease or Syndrome 12 BXGD005938 Adult hypophosphatasia (disorder) C0268413 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 9 BXGD005939 Hyperphosphatasemia with bone disease C0268414 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD005940 Pancreatic trypsinogen deficiency C0268417 disease C16;C06;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005941 Deficiency of glycerol kinase C0268418 disease Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD005942 Acatalasia C0268419 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD005943 Alstrom Syndrome C0268425 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 12 BXGD005944 Hyperkalemic distal renal tubular acidosis C0268434 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005945 Renal Tubular Acidosis, Type II C0268435 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD005946 Pseudohypoaldosteronism, Type I C0268436 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 19 BXGD005947 Acquired Nephrogenic Diabetes Insipidus C0268443 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005948 Normokalemic Periodic Paralysis C0268445 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD005949 Thyrotoxic periodic paralysis C0268446 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD005950 Primary hypomagnesemia (disorder) C0268448 disease C23;C16;C18;C13;C12 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD005951 Gitelman Syndrome C0268450 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 26 BXGD005952 Aminoacidemia C0268457 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005953 Disorder of phenylalanine metabolism C0268461 group C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005954 Transient hyperphenylalaninemia C0268464 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 6 BXGD005955 Phenylketonuria II C0268465 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD005956 Hyperphenylalaninemia, BH4-Deficient, B C0268467 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD005957 Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency C0268468 disease C23;C16;C18;C10;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 10 BXGD005958 Hydroxykynureninuria C0268474 phenotype C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005959 Tyrosinemias C0268483 E70.21 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 17 BXGD005960 Hereditary hypertyrosinemia C0268486 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005961 Tyrosine Transaminase Deficiency Disease C0268487 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD005962 Tyrosinemia, Type I C0268490 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 18 BXGD005963 Oculocutaneous albinism type 1 C0268494 disease C16;C18;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 4 BXGD005964 Oculocutaneous albinism type 2 C0268495 E70.321 disease C16;C18;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 11 BXGD005965 Brown oculocutaneous albinism C0268497 disease C16;C18;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality DOID:630 genetic disease T019 Congenital Abnormality 2 BXGD005966 Yellow mutant oculocutaneous albinism C0268500 disease C16;C18;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD005967 Autosomal recessive ocular albinism C0268503 E70.311 disease C16;C18;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD005968 Ocular albinism, type II C0268505 disease C16;C18;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD005969 Glutamate-cysteine ligase deficiency C0268523 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005970 gamma-Glutamyltransferase deficiency C0268524 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD005971 5-oxoprolinase deficiency C0268525 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 2 BXGD005972 Hyperprolinemia C0268528 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD005973 Proline dehydrogenase deficiency C0268529 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD005974 Deficiency of prolidase C0268532 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 2 BXGD005975 Prolinuria C0268534 disease Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T047 Disease or Syndrome 6 BXGD005976 HHH syndrome C0268540 E72.4 disease C23;C16;C18;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 8 BXGD005977 Ornithine carbamoyltransferase deficiency C0268542 E72.4 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 17 BXGD005978 Hyperammonemia, type III C0268543 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005979 Argininosuccinic Aciduria C0268547 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 9 BXGD005980 Hyperargininemia C0268548 E72.21 phenotype C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 11 BXGD005981 Hyperlysinemias C0268553 E72.3 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD005982 Hyperlysinemia, Periodic C0268555 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD005983 Saccharopinuria C0268556 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD005984 Hyperglycinemia C0268559 phenotype C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 14 BXGD005985 Hyperglycinemia, Transient Neonatal C0268560 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD005986 Hyperglycinemia, Nonketotic, Type I C0268561 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005987 Hyperglycinemia, Nonketotic, Type II C0268562 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD005988 Sarcosinemia C0268563 E72.59 phenotype C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 4 BXGD005989 Classic Maple Syrup Urine Disease C0268568 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD005990 Intermittent Maple Syrup Urine Disease C0268569 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD005991 Valinemia C0268573 E71.19 phenotype C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 1 BXGD005992 Hyperleucine-Isoleucinemia C0268574 E71.19 phenotype C23;C16;C18;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD005993 Isovaleryl-CoA dehydrogenase deficiency C0268575 E71.110 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 22 BXGD005994 Hyperleucinemia C0268576 phenotype Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD005995 Propionic acidemia C0268579 E71.121 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 17 BXGD005996 Holocarboxylase Synthetase Deficiency C0268581 D81.818 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD005997 Methylmalonic acidemia C0268583 E71.120 phenotype C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 44 BXGD005998 Glutaric aciduria C0268594 E72.3 phenotype Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 8 BXGD005999 Glutaric aciduria, type 1 C0268595 E72.3 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD006000 Multiple Acyl Coenzyme A Dehydrogenase Deficiency C0268596 E71.313 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 39 BXGD006001 3-methylcrotonyl CoA carboxylase 1 deficiency C0268600 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD006002 HMG CoA lyase deficiency C0268601 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD006003 Acetyl-CoA: carboxylase deficiency C0268603 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006004 Inherited disorder of folate metabolism C0268605 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006005 Deficiency of dihydrofolate reductase C0268608 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD006006 Glutamate formiminotransferase deficiency C0268609 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006007 Arakawa syndrome 2 C0268611 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006008 Disorder of sulfur-bearing amino acid metabolism C0268613 E72.1 phenotype C23;C16;C18 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD006009 5,10-Methylenetetrahydrofolate reductase deficiency C0268615 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD006010 Gamma-cystathionase deficiency C0268616 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD006011 Cystathioninemia C0268618 disease Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 4 BXGD006012 Hepatic methionine adenosyltransferase deficiency C0268621 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD006013 Tyrosinemia, Type III C0268623 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD006014 Sulfite oxidase deficiency C0268624 E72.19 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD006015 Juvenile nephropathic cystinosis (disorder) C0268626 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality DOID:0014667;DOID:630 disease of metabolism; genetic disease T047;T019 Disease or Syndrome; Congenital Abnormality 2 BXGD006016 Hyper-beta-alaninemia C0268630 phenotype C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 33 BXGD006017 succinic semialdehyde dehydrogenase deficiency C0268631 E72.81 disease C16;C18;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 7 BXGD006018 Disorder of fatty acid metabolism C0268634 E71.3 group C23;C16;C18 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 6 BXGD006019 Amino acid transport disorder C0268641 E72.0 group C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 3 BXGD006020 Histidinuria renal tubular defect C0268642 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T047 Disease or Syndrome 2 BXGD006021 Cystinuria type 1 C0268643 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD006022 Cystinuria, type 3 C0268645 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006023 Isolated cystinuria C0268646 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD006024 Lysinuric Protein Intolerance C0268647 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 21 BXGD006025 Iminoglycinuria C0268654 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD006026 Biotin deficiency C0268680 E53.8 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 4 BXGD006027 Vitamin D-dependent rickets, type 1 C0268689 disease C16;C18;C13;C05;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD006028 Uremic encephalopathy C0268707 disease C18;C13;C12;C10 Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD006029 Renal glomerular disease C0268731 N05 group C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 221 BXGD006030 Nephritic syndrome C0268732 N05 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD006031 Acute nephropathy C0268734 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006032 Membranoproliferative Glomerulonephritis, Type I C0268742 disease C13;C12;C20 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD006033 Membranoproliferative Glomerulonephritis, Type II C0268743 disease C13;C12;C20 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 10 BXGD006034 Diffuse mesangial sclerosis (disorder) C0268747 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 22 BXGD006035 Fibrillary glomerulonephritis C0268749 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006036 Necrotizing glomerulonephritis C0268750 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD006037 SLE glomerulonephritis syndrome, WHO class IV C0268757 disease C13;C17;C12;C20 Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006038 Myeloma kidney C0268784 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD006039 Renal vascular disorder C0268790 group C13;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 22 BXGD006040 Arteriolar nephrosclerosis C0268796 disease C13;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006041 Simple renal cyst C0268800 disease C23;C16;C04;C13;C12 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 100 BXGD006042 Hydroureteronephrosis C0268804 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006043 Hunner's ulcer C0268825 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006044 Cystitis glandularis C0268837 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD006045 Overactive Detrusor C0268849 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD006046 Hypertrophy of bladder C0268855 N32.89 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD006047 Prostatic Obstruction C0268889 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006048 Atrophy of seminal vesicle C0268902 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD006049 Increased size of penis C0269011 phenotype C12 Male Urogenital Diseases Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 12 BXGD006050 Fibrosis of corpus cavernosum C0269014 disease C12 Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006051 Chronic cervicitis C0269062 disease C13;C01 Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD006052 Vulvar Vestibulitis C0269084 N94.810 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 11 BXGD006053 Endometrioma C0269102 disease C13 Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 279 BXGD006054 Endosalpingiosis C0269106 disease C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD006055 Urethrovaginal fistula C0269133 N82.1 disease C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 6 BXGD006056 Germinal inclusion cyst of ovary C0269155 disease C23;C04;C13;C19 Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Anatomical Abnormality T190 Anatomical Abnormality 3 BXGD006057 Hydrometrocolpos C0269209 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 7 BXGD006058 Inversion of nipple (disorder) C0269269 disease C17 Skin and Connective Tissue Diseases Anatomical Abnormality HP:0000769 Abnormality of the breast T190 Anatomical Abnormality 27 BXGD006059 Antepartum hemorrhage C0269608 O46.9 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Pathologic Function HP:0001871;HP:0001626 Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T046 Pathologic Function 1 BXGD006060 Hematoma of cord C0269855 phenotype C23 Pathological Conditions, Signs and Symptoms Injury or Poisoning HP:0001197 Abnormality of prenatal development or birth T037 Injury or Poisoning 2 BXGD006061 Postpartum cardiomyopathy C0269972 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD006062 Galactorrhea associated with childbirth C0269995 O92.6 disease C13;C17 Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD006063 Antepartum hemorrhage affecting fetus or newborn C0270027 phenotype Finding T033 Finding 1 BXGD006064 Perinatal disorder C0270075 P96.9 group C23;C16;C13 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 1 BXGD006065 TORCH syndrome C0270173 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 2 BXGD006066 Perinatal Subarachnoid Hemorrhage C0270192 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function T046 Pathologic Function 8 BXGD006067 Hemolytic disease of fetus OR newborn due to ABO immunization C0270202 P55.1 disease C16;C13;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006068 Lucey-Driscoll syndrome (disorder) C0270210 disease C23;C16;C18 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD006069 Perinatal jaundice due to inspissated bile syndrome C0270217 P59.1 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 1 BXGD006070 Syndrome of infant of diabetic mother C0270221 P70.1 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD006071 Tetany, Neonatal C0270224 P71.3 disease C23;C18;C10 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006072 Meconium peritonitis C0270250 P78.0 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD006073 Hydrops of placenta C0270254 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome HP:0001197 Abnormality of prenatal development or birth T047 Disease or Syndrome 3 BXGD006074 Bedwetting C0270327 N39.44 disease C13;C12;F03;F01 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000119 Abnormality of the genitourinary system T048 Mental or Behavioral Dysfunction 23 BXGD006075 Severe major depression with psychotic features C0270458 disease F03;F01 Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 12 BXGD006076 Schizoaffective disorder, bipolar type C0270496 F25.0 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 17 BXGD006077 Coprophilia (disorder) C0270500 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 12 BXGD006078 Rebound Insomnia C0270541 phenotype C10;F03 Nervous System Diseases; Mental Disorders Sign or Symptom T184 Sign or Symptom 4 BXGD006079 Generalized Anxiety Disorder C0270549 F41.1 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 103 BXGD006080 Generalized social phobia C0270587 F40.11 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD006081 Leukoencephalopathy C0270612 group C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 189 BXGD006082 Lateral Sinus Thrombosis C0270639 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD006083 Posterior fossa compression syndrome C0270680 G93.5 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD006084 Cerebral calcification C0270685 phenotype C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Finding HP:0000707;HP:0000924 Abnormality of the nervous system; Abnormality of the skeletal system T033 Finding 103 BXGD006085 Neonatal maladjustment syndrome C0270699 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD006086 Kluver-Bucy Syndrome C0270707 disease C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 10 BXGD006087 Rud Syndrome C0270709 disease C23;C16;C17;C10;C19;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD006088 Bing-Neel syndrome C0270710 disease C04;C20;C10;C15;C14 Neoplasms; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD006089 Degenerative Diseases, Central Nervous System C0270715 group C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 43 BXGD006090 Arrested hydrocephalus C0270718 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD006091 Hydrocephalus Ex-Vacuo C0270720 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD006092 Infantile Neuroaxonal Dystrophy C0270724 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 17 BXGD006093 Alexander Disease C0270726 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 27 BXGD006094 MPTP Poisoning C0270730 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 1 BXGD006095 Striatonigral Degeneration C0270733 G23.2 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD006096 Essential Tremor C0270736 G25.0 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 122 BXGD006097 Athetoid cerebral palsy C0270742 G80.3 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 8 BXGD006098 Marie Cerebellar Ataxia C0270749 G11.9 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD006099 Familial Motor Neuron Disease C0270763 G12.24 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD006100 Motor Neuron Disease, Lower C0270764 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 23 BXGD006101 Myelopathic Muscular Atrophy C0270765 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD006102 Myelomalacia C0270774 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD006103 Degenerative myelopathy C0270780 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD006104 Binswanger Disease C0270786 I67.3 disease C10;F03;C14 Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD006105 Quadriparesis C0270790 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 42 BXGD006106 Monoparesis C0270795 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD006107 Spastic Diplegia Cerebral Palsy C0270804 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006108 Monoplegic Cerebral Palsy C0270807 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006109 Spastic syndrome C0270814 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD006110 epilepsy and migraine C0270816 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD006111 Gelastic Epilepsy C0270820 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 7 BXGD006112 Petit mal status C0270823 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 78 BXGD006113 Visual seizure C0270824 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 209 BXGD006114 Complex partial seizure with impairment of consciousness C0270834 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 41 BXGD006115 Tonic Seizures C0270844 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 108 BXGD006116 Epileptic drop attack C0270846 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 143 BXGD006117 Idiopathic generalized epilepsy C0270850 G40.3 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 94 BXGD006118 Benign neonatal epilepsy C0270851 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD006119 Juvenile Myoclonic Epilepsy C0270853 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 74 BXGD006120 Symptomatic Generalized Epilepsy C0270854 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD006121 Early myoclonic encephalopathy C0270855 G40.4 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD006122 Epilepsy, Reflex C0270857 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD006123 Abdominal Migraine C0270858 G43.D disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD006124 Basilar-Type Migraine C0270860 G43.1 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD006125 Hemiplegic migraine C0270862 G43.4 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD006126 Facial Myokymia C0270871 G51.4 phenotype C10;C07 Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome HP:0000707;HP:0000152;HP:0003011 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculature T047 Disease or Syndrome 5 BXGD006127 Idiopathic peripheral neuropathy C0270910 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006128 Charcot-Marie-Tooth Disease, Type Ia (disorder) C0270911 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 42 BXGD006129 Charcot-Marie-Tooth Disease, Type Ib C0270912 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 12 BXGD006130 Charcot-Marie-Tooth disease, Type 1C C0270913 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD006131 Hereditary Motor and Sensory-Neuropathy Type II C0270914 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 48 BXGD006132 Supranuclear paralysis C0270920 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006133 Axonal neuropathy C0270921 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 59 BXGD006134 Peripheral demyelinating neuropathy C0270922 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 95 BXGD006135 Inflammatory neuropathy C0270933 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD006136 Myasthenic crisis C0270942 G70.01 disease C04;C20;C10 Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006137 Neurogenic Muscular Atrophy C0270948 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function HP:0003011 Abnormality of the musculature T046 Pathologic Function 15 BXGD006138 Ocular muscular dystrophy C0270951 G71.09 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD006139 Muscular Dystrophy, Oculopharyngeal C0270952 G71.09 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 33 BXGD006140 Myotonia Levior C0270959 G71.12 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD006141 Congenital myopathy (disorder) C0270960 G71.20 group C05;C10 Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 63 BXGD006142 Multi-core congenital myopathy C0270962 G71.29 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 16 BXGD006143 Limb-girdle muscular dystrophy type 2H C0270968 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality DOID:7 disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 6 BXGD006144 Zebra body myopathy C0270969 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD006145 Reducing-body myopathy C0270970 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD006146 Floppy infant syndrome C0270971 P94.2 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 31 BXGD006147 Cornelia De Lange Syndrome C0270972 Q87.19 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225;DOID:150 genetic disease; disease of anatomical entity; syndrome; disease of mental health T047 Disease or Syndrome 48 BXGD006148 Infantile encephalopathy AND lactic acidosis C0270975 disease C18;C05;C10 Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006149 Metabolic myopathy C0270984 group C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD006150 Alcohol myopathy C0270985 G72.1 disease C05;C10;C25;F03 Musculoskeletal Diseases; Nervous System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 6 BXGD006151 Secondary myopathy C0270992 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD006152 Phthisis bulbi C0271007 H44.529 disease C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD006153 Macular retinal edema C0271051 disease C11 Eye Diseases Disease or Syndrome HP:0001939;HP:0000478 Abnormality of metabolism/homeostasis; Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 36 BXGD006154 Rhegmatogenous retinal detachment C0271055 H33.0 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 47 BXGD006155 Retinal microaneurysm with diabetes mellitus C0271064 disease C11;C19;C14 Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD006156 Choroidal retinal neovascularization C0271066 phenotype C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD006157 Eales disease C0271073 H35.06 disease C23;C11;C14 Pathological Conditions, Signs and Symptoms; Eye Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD006158 Nonexudative age-related macular degeneration C0271083 H35.31 disease C11 Eye Diseases Acquired Abnormality T020 Acquired Abnormality 3 BXGD006159 Exudative age-related macular degeneration C0271084 H35.32 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 158 BXGD006160 Retinoschisis, Juvenile, X-Linked C0271091 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 10 BXGD006161 Progressive cone dystrophy (without rod involvement) C0271092 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD006162 Stargardt's disease C0271093 H35.53 phenotype Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 45 BXGD006163 Usher Syndrome C0271097 disease C23;C16;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 68 BXGD006164 Ectopic pupil C0271135 H21.56 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD006165 Secondary Open Angle Glaucoma C0271148 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD006166 Cortical cataract C0271160 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 69 BXGD006167 Atopic cataract C0271174 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006168 Irvine-Gass Syndrome C0271178 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006169 Severe myopia C0271183 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 184 BXGD006170 Metamorphopsia C0271185 H53.15 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom HP:0000478 Abnormality of the eye T184 Sign or Symptom 18 BXGD006171 Scotoma, Centrocecal C0271196 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 12 BXGD006172 Scotoma, Paracentral C0271197 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 2 BXGD006173 Scotoma, Arcuate C0271198 H53.43 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD006174 Central blindness C0271214 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD006175 Blindness, Legal C0271215 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 10 BXGD006176 Impairment level: total impairment of both eyes (disorder) C0271217 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006177 Blindness of one eye (disorder) C0271240 H54.4 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD006178 Oculovestibuloauditory syndrome C0271270 H16.32 disease C11;C10;C14 Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 87 BXGD006179 Xerotic keratitis C0271271 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006180 Epithelial basement membrane dystrophy C0271285 disease C11;C10;C14 Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 1 BXGD006181 Schnyder crystalline corneal dystrophy C0271287 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD006182 Corneal guttata C0271288 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 6 BXGD006183 Corneal anesthesia C0271291 phenotype C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006184 Madarosis of eyelid C0271321 phenotype C23;C11;C17;C19 Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD006185 Orbital lymphoma C0271333 disease C04;C11;C05;C20;C15 Neoplasms; Eye Diseases; Musculoskeletal Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD006186 Glaucomatous atrophy of optic disc C0271342 H47.23 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD006187 Compression of optic nerve C0271344 H47.09 phenotype C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000707;HP:0000478 Abnormality of the nervous system; Abnormality of the eye T047 Disease or Syndrome 8 BXGD006188 Fourth cranial nerve paresis C0271375 H49.1 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707;HP:0000478 Abnormality of the nervous system; Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD006189 Convergence Insufficiency C0271379 H51.11 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 4 BXGD006190 Periodic Alternating Nystagmus C0271382 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006191 Symptomatic Nystagmus C0271383 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006192 Spontaneous Ocular Nystagmus C0271384 H55.03 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD006193 Horizontal Nystagmus C0271385 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 48 BXGD006194 Vertical Nystagmus C0271386 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 9 BXGD006195 Rebound Nystagmus C0271387 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006196 Pendular Nystagmus C0271388 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 25 BXGD006197 Jerk Nystagmus C0271389 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006198 Nystagmus, End-Position C0271390 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 26 BXGD006199 Scleral abscess C0271402 H15.09 phenotype C23;C01;C11 Pathological Conditions, Signs and Symptoms; Infections; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006200 Synchysis scintillans C0271407 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD006201 Disorder of middle ear C0271428 group C09 Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD006202 Acute otitis media C0271429 H66.9 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome HP:0002715;HP:0000598 Abnormality of the immune system; Abnormality of the ear DOID:7 disease of anatomical entity T047 Disease or Syndrome 24 BXGD006203 Chronic otitis media C0271441 H66.9 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome HP:0002715;HP:0000598 Abnormality of the immune system; Abnormality of the ear DOID:7 disease of anatomical entity T047 Disease or Syndrome 163 BXGD006204 Exudative otitis media C0271449 H65.9 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD006205 Serous otitis media C0271453 H65.9 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD006206 Chronic purulent otitis media C0271454 H66.3 disease C01;C09 Infections; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD006207 Low frequency deafness C0271514 H91.9 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000598 Abnormality of the ear DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD006208 Cryptogenic sexual precocity C0271527 phenotype C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD006209 Isosexual precocious puberty C0271528 phenotype C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 5 BXGD006210 Pineal gland dysfunction C0271531 E34.8 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD006211 Idiopathic hyperprolactinemia C0271552 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 1 BXGD006212 Lymphocytic hypopituitarism C0271560 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD006213 Somatotropin deficiency C0271561 disease C16;C05;C10;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 154 BXGD006214 Laron Syndrome C0271568 E34.3 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 20 BXGD006215 Isolated gonadotropin deficiency C0271577 E23.0 disease C16;C18;C10;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 8 BXGD006216 Female hypogonadism syndrome C0271578 disease C13;C10;C19 Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome HP:0000119;HP:0000818 Abnormality of the genitourinary system; Abnormality of the endocrine system T047 Disease or Syndrome 25 BXGD006217 Isolated lutropin deficiency (disorder) C0271582 E23.0 disease C19 Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD006218 ACTH Deficiency, Isolated C0271583 disease C16;C18;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD006219 Residual ovary syndrome C0271614 N99.83 disease C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006220 Precocious female puberty C0271616 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 1 BXGD006221 Delayed female puberty C0271618 phenotype C19 Endocrine System Diseases Pathologic Function T046 Pathologic Function 1 BXGD006222 Hypogonadotropic hypogonadism C0271623 E23.0 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000119;HP:0000818 Abnormality of the genitourinary system; Abnormality of the endocrine system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 178 BXGD006223 Disorder of endocrine pancreas C0271633 group C23;C06;C19 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD006224 Type 2 diabetes mellitus in obese C0271638 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD006225 Malnutrition related diabetes mellitus C0271641 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006226 Fibrocalculous pancreatic diabetes C0271642 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD006227 Impaired glucose tolerance C0271650 R73.03 phenotype C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 596 BXGD006228 Gestational diabetes mellitus, class A>1< C0271662 disease C18;C13;C19 Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006229 Symmetric Diabetic Proximal Motor Neuropathy C0271673 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD006230 Asymmetric Diabetic Proximal Motor Neuropathy C0271674 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD006231 Diabetic Mononeuropathy C0271678 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD006232 Diabetic Polyneuropathies C0271680 group C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 42 BXGD006233 Mixed sensory-motor polyneuropathy C0271682 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD006234 Polyneuropathy, Motor C0271683 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 32 BXGD006235 Diabetic Amyotrophy C0271685 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD006236 Diabetic Autonomic Neuropathy C0271686 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD006237 Insulin Receptor, Defect in C0271689 disease C16;C18;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD006238 Acquired generalized lipodystrophy C0271693 disease C18;C17;C19 Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD006239 Familial partial lipodystrophy C0271694 disease C18;C17 Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 28 BXGD006240 Rabson-Mendenhall Syndrome C0271695 disease C16;C18;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 4 BXGD006241 Iatrogenic hyperinsulinism C0271702 phenotype C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006242 Factitious hypoglycemia C0271703 disease C18;F03 Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD006243 Hyperplasia of pancreatic islet beta cell C0271706 E16.1 disease C23;C16;C06;C18 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD006244 Fasting Hypoglycemia C0271708 phenotype C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 39 BXGD006245 Reactive hypoglycemia C0271710 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 23 BXGD006246 Hypoglycemia of childhood C0271712 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006247 Ketotic hypoglycemia C0271713 phenotype C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 15 BXGD006248 Hypoglycemia, leucine-induced C0271714 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006249 Glucagon resistance C0271719 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD006250 Iatrogenic Cushing's disease C0271725 disease C23;C19 Pathological Conditions, Signs and Symptoms; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD006251 Secondary hyperaldosteronism C0271728 E26.1 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 4 BXGD006252 Addison's disease due to autoimmunity C0271737 E27.1 disease C20;C19 Immune System Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 44 BXGD006253 Hypocortisolism secondary to another disorder C0271738 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD006254 Glucocorticoid deficiency with achalasia C0271742 disease C06;C19 Digestive System Diseases; Endocrine System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 17 BXGD006255 Abnormality of cortisol-binding globulin C0271749 E27.8 disease C19 Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD006256 Adrenal calcification C0271750 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818;HP:0000924 Abnormality of the endocrine system; Abnormality of the skeletal system T047 Disease or Syndrome 3 BXGD006257 Non-toxic multinodular goiter C0271761 E04.2 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD006258 Hypothyroidism, Congenital, Nongoitrous, 4 C0271789 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 2 BXGD006259 Subclinical hypothyroidism C0271790 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 40 BXGD006260 Severe hypothyroidism C0271791 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD006261 Transient hypothyroidism C0271795 disease C23;C19 Pathological Conditions, Signs and Symptoms; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD006262 Central hypothyroidism C0271801 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 35 BXGD006263 Silent thyroiditis C0271814 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD006264 Postpartum Thyroiditis C0271815 O90.5 disease C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD006265 Focal thyroiditis C0271816 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006266 Iodide transport defect C0271826 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD006267 Pendred's syndrome C0271829 E07.1 disease C23;C10;C19;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 35 BXGD006268 X-linked reduction of thyroxine-binding globulin C0271836 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD006269 Parathyroid hyperplasia C0271844 E21.0 disease C23;C18;C19 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 37 BXGD006270 Familial hyperparathyroidism C0271846 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD006271 Hyperparathyroidism due to vitamin D deficiency C0271848 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006272 Tertiary hyperparathyroidism C0271858 E21.2 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 5 BXGD006273 Idiopathic parathyroidism C0271862 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD006274 Autoimmune hypoparathyroidism C0271865 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 3 BXGD006275 Pseudohypoparathyroidism type I B C0271869 disease C16;C18;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006276 Hypothalamic obesity C0271885 disease C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD006277 Microcytic hypochromic anemia (disorder) C0271901 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 25 BXGD006278 Acquired methemoglobinemia C0271905 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006279 Acquired aplastic anemia C0271907 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 64 BXGD006280 Anemia of pregnancy C0271930 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006281 Congenital dyserythropoietic anemia, type I C0271933 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 8 BXGD006282 Congenital dyserythropoietic anemia, type III C0271934 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD006283 Thalassemia Intermedia C0271979 D56.1 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 53 BXGD006284 beta^0^ Thalassemia C0271980 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 34 BXGD006285 Delta-Beta Thalassemia C0271985 D56.2 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD006286 delta beta^0^ Thalassemia C0271986 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD006287 ^A^gamma delta beta^0^ thalassemia C0271987 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD006288 delta-Thalassemia C0271990 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD006289 delta^0^ Thalassemia C0271991 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD006290 Hereditary persistence of fetal hemoglobin thalassemia C0271994 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 35 BXGD006291 HPFH deletion type C0271995 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD006292 alpha^0^ Thalassemia C0272002 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 21 BXGD006293 alpha^+^ Thalassemia, deletion type C0272003 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006294 Hemoglobin Bart's hydrops syndrome C0272005 D56.0 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD006295 Secondary acquired sideroblastic anemia C0272024 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD006296 Pyridoxine-responsive sideroblastic anemia C0272027 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 24 BXGD006297 stomatocytic anemia C0272048 D58.8 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD006298 Xerocytosis C0272051 disease C23;C16;C13;C20;C15 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD006299 Glycogen Storage Disease XII C0272066 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006300 Hemoglobin D disease C0272080 D58.2 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD006301 Hemoglobin D trait C0272081 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006302 Hemoglobin E trait C0272082 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD006303 Congenital Methemoglobinemia C0272087 D74.0 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD006304 Anemia due to infection C0272105 disease C23;C01;C15 Pathological Conditions, Signs and Symptoms; Infections; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD006305 Warm autoimmune hemolytic anemia C0272118 D59.11 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD006306 Evans syndrome C0272126 D69.41 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD006307 Drug-induced hemolytic anemia C0272132 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006308 Erythroblastosis C0272138 disease Disease or Syndrome T047 Disease or Syndrome 89 BXGD006309 Erythrocytosis due to low atmospheric pressure C0272139 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 25 BXGD006310 Erythrocytosis due to tissue hypoxemia C0272144 D75.1 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD006311 Reticular dysgenesis C0272167 disease C16;C18;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD006312 Shwachman syndrome C0272170 disease Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 49 BXGD006313 Myelokathexis C0272173 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 11 BXGD006314 Immune neutropenia C0272175 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD006315 Alloimmune neonatal neutropenia C0272176 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD006316 Drug-induced neutropenia C0272178 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 41 BXGD006317 Qualitative abnormality of granulocyte C0272183 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 22 BXGD006318 Congenital leukocyte adherence deficiency C0272187 disease Disease or Syndrome T047 Disease or Syndrome 14 BXGD006319 eosinophilic syndrome C0272191 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006320 Familial eosinophilia C0272192 D72.19 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD006321 Eosinopenia C0272195 D72.818 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006322 Familial Hemophagocytic Lymphocytosis C0272199 D76.1 phenotype C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 35 BXGD006323 Indolent Systemic Mastocytosis C0272203 D47.02 disease C04;C20 Neoplasms; Immune System Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 6 BXGD006324 T lymphocyte disorder C0272209 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD006325 Persistent lymphocytosis C0272214 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD006326 Chronic granulomatous disease, type II C0272220 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006327 Hyperimmunoglobulin M syndrome C0272236 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 12 BXGD006328 Transient hypogammaglobulinemia of infancy C0272238 D80.7 disease C20 Immune System Diseases Disease or Syndrome HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD006329 Complement abnormality C0272241 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD006330 Complement deficiency disease C0272242 D80-D89 group C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715 Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 42 BXGD006331 Polyclonal gammopathy C0272249 D89.0 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD006332 Solitary Osseous Plasmacytoma C0272256 disease C04;C05;C20;C15;C14 Neoplasms; Musculoskeletal Diseases; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD006333 Systemic fibrinogenolysis C0272272 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006334 Familial hemorrhagic diathesis C0272274 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006335 Congenital thrombocytopenia C0272278 D69.42 disease C23;C16;C20;C15 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 19 BXGD006336 Heparin-induced thrombocytopenia C0272285 D75.82 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 44 BXGD006337 Thrombocytopenia due to platelet alloimmunization C0272286 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 111 BXGD006338 Chronic idiopathic thrombocytopenic purpura C0272293 disease C23;C20;C15 Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD006339 Thrombocytopenia due to sequestration C0272296 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD006340 Gray Platelet Syndrome C0272302 D69.1 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 38 BXGD006341 Coagulation factor deficiency syndrome C0272315 group C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD006342 Hereditary factor II deficiency disease C0272317 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD006343 Severe hereditary factor VIII deficiency disease C0272322 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 37 BXGD006344 Moderate hereditary factor VIII deficiency disease C0272323 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD006345 Mild hereditary factor VIII deficiency disease C0272324 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD006346 Factor 8 deficiency, acquired C0272325 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD006347 Hereditary factor X deficiency disease C0272327 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006348 Acquired factor X deficiency disease C0272328 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006349 Hereditary factor XII deficiency disease C0272334 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD006350 Prekallikrein deficiency C0272339 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD006351 High molecular weight kininogen deficiency C0272340 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001939;HP:0001871 Abnormality of metabolism/homeostasis; Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 4 BXGD006352 Familial multiple factor deficiency syndrome, type I C0272342 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD006353 Familial multiple factor deficiency syndrome, type II C0272343 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD006354 Dysfibrinogenemia, Congenital C0272350 D68.2 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD006355 von Willebrand disease, type IIC C0272355 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006356 von Willebrand disease, type IID C0272356 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006357 Acquired von Willebrand's disease C0272362 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD006358 ANTICOAGULANT DISORDERS C0272363 group C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006359 Antithrombin III Deficiency C0272375 D68.59 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 27 BXGD006360 Suppurative tonsillitis C0272383 disease C01;C08;C07;C09 Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006361 Hypertrophy of tonsils C0272386 J35.1 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system T047 Disease or Syndrome 15 BXGD006362 Hyperplasia of tonsils C0272387 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 3 BXGD006363 Disorder of lymph node C0272394 group C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD006364 Dermatopathic lymphadenitis C0272398 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD006365 Virchow's node (disorder) C0272401 disease Sign or Symptom T184 Sign or Symptom 30 BXGD006366 Lung Injury C0273115 S27.30 disease C08;C26 Respiratory Tract Diseases; Wounds and Injuries Injury or Poisoning T037 Injury or Poisoning 30 BXGD006367 Chronic mountain sickness C0274294 disease C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 24 BXGD006368 Cutaneous anaphylaxis C0274306 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD006369 Poisoning by fluorouracil C0274576 disease C25 Chemically-Induced Disorders Injury or Poisoning DOID:0014667;DOID:630 disease of metabolism; genetic disease T037 Injury or Poisoning 2 BXGD006370 Inorganic Mercury Poisoning C0274859 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 2 BXGD006371 Mercury Poisoning, Organic C0274860 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 2 BXGD006372 Arsenic Poisoning, Inorganic C0274861 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 62 BXGD006373 Nervous System, Organic Arsenic Poisoning C0274862 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 62 BXGD006374 Toxic effect of heavy metal C0274869 T56.891 disease C25 Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 1 BXGD006375 Acute infectious disease C0275518 group C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 198 BXGD006376 Coinfection C0275524 phenotype C01 Infections Disease or Syndrome T047 Disease or Syndrome 252 BXGD006377 Congenital infectious disease C0275544 group C23;C16;C01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections Disease or Syndrome T047 Disease or Syndrome 29 BXGD006378 Acute bacterial peritonitis C0275550 K65.9 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD006379 Primary bacterial peritonitis C0275551 K65.2 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 39 BXGD006380 Bacterial cholangitis C0275553 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD006381 Cutaneous nocardiosis C0275584 A43.1 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006382 Infection due to Brucella suis C0275594 A23.2 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD006383 Infection due to Clostridium chauvoei C0275616 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD006384 Congenital listeriosis C0275686 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD006385 Brazilian purpuric fever C0275703 A48.4 disease C23;C01;C11 Pathological Conditions, Signs and Symptoms; Infections; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006386 Infection due to Mycobacterium kansasii C0275706 A31.0 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD006387 Mycobacterium marinum Infection C0275708 A31.1 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 5 BXGD006388 Streptococcal lymphadenitis of swine C0275814 disease C01;C15 Infections; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD006389 Tuberculosis, Central Nervous System C0275904 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 11 BXGD006390 Tuberculosis of brain C0275909 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006391 Tuberculosis of intestines C0275911 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 24 BXGD006392 Tuberculous ascites C0275919 A18.31 disease C23;C06;C01 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 3 BXGD006393 Acute tuberculosis C0275959 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD006394 Glandular tularemia C0275974 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD006395 Enteric campylobacteriosis C0275982 A04.5 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 5 BXGD006396 Glasser's disease C0276035 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006397 Chronic respiratory disease due to Mycoplasma gallisepticum C0276041 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 7 BXGD006398 Escherichia coli septicemia C0276088 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD006399 Pneumonia due to Escherichia coli C0276089 J15.5 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD006400 edema disease C0276093 phenotype C01 Infections Disease or Syndrome T047 Disease or Syndrome 11 BXGD006401 Mastitis-metritis-agalactia syndrome C0276096 disease C13;C01;C17 Female Urogenital Diseases and Pregnancy Complications; Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 23 BXGD006402 Chlamydia psittaci infection C0276108 A70 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 3 BXGD006403 Viral myocarditis C0276138 B33.22 disease C01;C14 Infections; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 129 BXGD006404 Egg drop syndrome C0276168 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 6 BXGD006405 Goatpox C0276196 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD006406 Canarypox (disorder) C0276199 disease Disease or Syndrome T047 Disease or Syndrome 32 BXGD006407 Recurrent herpes simplex C0276223 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006408 Herpes encephalitis C0276226 B00.4 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome HP:0002715 Abnormality of the immune system T047 Disease or Syndrome 42 BXGD006409 Duck viral enteritis C0276231 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD006410 Infectious pustular vulvovaginitis C0276240 disease C13;C01 Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome T047 Disease or Syndrome 5 BXGD006411 Cytomegalovirus hepatitis C0276252 B25.1 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD006412 Cytomegaloviral pneumonia C0276253 B25.0 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD006413 Lymphocystis disease C0276259 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD006414 Verruca plana C0276262 B07.8 disease C01;C17 Infections; Skin and Connective Tissue Diseases Acquired Abnormality HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:0050117 disease by infectious agent T020 Acquired Abnormality 4 BXGD006415 Oral papillomatosis C0276270 disease C04 Neoplasms Disease or Syndrome T047 Disease or Syndrome 1 BXGD006416 Disease due to Parvoviridae C0276275 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 71 BXGD006417 Mink parvovirus infection C0276279 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 10 BXGD006418 Zika Virus Infection C0276289 A92.5 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 192 BXGD006419 Respiratory syncytial virus bronchiolitis C0276340 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD006420 Swine influenza C0276357 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD006421 La Crosse Encephalitis C0276379 A83.5 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 1 BXGD006422 Enteroviral encephalomyelitis C0276429 A85.0 phenotype C23;C01;C10 Pathological Conditions, Signs and Symptoms; Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006423 Enterovirus meningitis C0276430 A87.0 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD006424 Acute type A viral hepatitis C0276434 B15 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 10 BXGD006425 Rhinovirus infection C0276447 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 202 BXGD006426 Familial Alzheimer Disease (FAD) C0276496 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 260 BXGD006427 Human immunodeficiency virus II infection C0276501 disease C13;C01;C12;C20 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 30 BXGD006428 Pneumonia associated with AIDS C0276527 disease C01;C08;C20 Infections; Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006429 AIDS with Kaposi's sarcoma C0276535 disease C04;C01;C20 Neoplasms; Infections; Immune System Diseases Neoplastic Process T191 Neoplastic Process 33 BXGD006430 HIV encephalitis C0276548 disease C01;C20;C10;F03 Infections; Immune System Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 43 BXGD006431 Acute type B viral hepatitis C0276609 B16 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 38 BXGD006432 Acute viral hepatitis C0276622 B17.9 disease Disease or Syndrome T047 Disease or Syndrome 15 BXGD006433 Chronic viral hepatitis C0276623 B18 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 59 BXGD006434 Chronic active viral hepatitis C0276625 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006435 Pseudoscarlatina C0276638 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD006436 Transmissible mink encephalopathy C0276640 disease C23;C01;C10 Pathological Conditions, Signs and Symptoms; Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD006437 Aspergilloma C0276651 B44 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 3 BXGD006438 Invasive Pulmonary Aspergillosis C0276653 B44.0 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 42 BXGD006439 Infection by Aspergillus fumigatus C0276655 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 11 BXGD006440 Infection by Aspergillus flavus C0276658 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD006441 Pulmonary paracoccidioidomycosis C0276665 B41.0 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 5 BXGD006442 Disseminated coccidioidomycosis C0276667 B38.7 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD006443 Infection by Candida albicans C0276680 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 30 BXGD006444 Disseminated cryptococcosis C0276687 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD006445 Pulmonary cryptococcosis C0276688 B45.0 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD006446 Phaeohyphomycosis C0276721 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 9 BXGD006447 Kerion celsi C0276742 B35.0 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006448 Fusariosis C0276758 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 2 BXGD006449 Congenital malaria C0276832 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD006450 Infection by Hepatozoon C0276846 phenotype C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD006451 Infection by Babesia bovis C0276849 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD006452 Infection by Trypanosoma evansi C0276871 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD006453 Infection by Leishmania infantum C0276876 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006454 Zoonotic form of cutaneous leishmaniasis C0276883 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD006455 Infection by Pneumocystis jirovecii (disorder) C0276908 phenotype C23;C01;C08 Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006456 Schistosoma hematobium infection C0276926 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 13 BXGD006457 Opisthorchis felineus Infection C0277004 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD006458 Opisthorchis viverrini Infection C0277005 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD006459 Infection by Baylisascaris C0277150 phenotype C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD006460 Infection by Toxocara canis C0277154 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006461 Infection by Spirocerca C0277192 phenotype C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD006462 Infection by Haemonchus C0277275 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD006463 Infection by Strongyloides stercoralis C0277302 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 7 BXGD006464 Disease due to Acanthocephala C0277331 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD006465 Infection by Polymorphus C0277337 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD006466 Infestation by bed bug C0277346 disease C01;C26 Infections; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 3 BXGD006467 Flea Infestation C0277355 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 5 BXGD006468 Infectious colitis C0277524 A09 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD006469 Infectious gastroenteritis C0277525 A09 disease C23;C06;C01 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD006470 Dysenteric diarrhea C0277526 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD006471 Epidemic diarrhea C0277527 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 19 BXGD006472 Traveler's diarrhea C0277528 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 21 BXGD006473 Juvenile disease C0277561 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD006474 Pathognomonic sign C0277792 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD006475 Extreme exhaustion C0277794 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 2 BXGD006476 Intermittent fever C0277799 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 2 BXGD006477 Clasp-Knife Spasticity C0277820 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD006478 Extrapyramidal Rigidity C0277821 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 5 BXGD006479 Early fontanel closure C0277827 phenotype C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 2 BXGD006480 Late fontanel closure C0277828 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 41 BXGD006481 Hoffman's Reflex C0277839 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD006482 Reflex, Pendular C0277850 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 5 BXGD006483 Nasal Flaring C0277873 phenotype Sign or Symptom HP:0000152;HP:0002086 Abnormality of head or neck; Abnormality of the respiratory system T184 Sign or Symptom 5 BXGD006484 Postthrombotic Syndrome C0277919 I87.0 phenotype C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD006485 Blanching of skin C0277941 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD006486 Butterfly rash C0277942 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T033 Finding 13 BXGD006487 Coarse hair C0277959 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 60 BXGD006488 Dry hair C0277960 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 12 BXGD006489 Murphy's sign C0277977 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD006490 Normal bowel habits C0278007 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD006491 Change in stool consistency C0278015 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD006492 Abnormal mental state C0278061 phenotype C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 24 BXGD006493 Behavioral tic C0278076 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 31 BXGD006494 Psychological addiction C0278079 disease F03;F01 Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD006495 Physical addiction C0278080 disease C25;F03;F01 Chemically-Induced Disorders; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 18 BXGD006496 Abnormal male sexual function C0278097 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 12 BXGD006497 Hemiplegia, Crossed C0278110 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD006498 Absence of sensation C0278134 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 111 BXGD006499 Moderate pain C0278139 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 6 BXGD006500 Excruciating pain C0278141 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD006501 Dull pain C0278144 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 2 BXGD006502 Radicular pain C0278147 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 23 BXGD006503 Hemifacial Spasm C0278152 phenotype C23;C10;C07 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 8 BXGD006504 Ataxia, Motor C0278161 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 16 BXGD006505 Posttraumatic aphasia C0278183 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD006506 Scanning speech C0278184 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 13 BXGD006507 Reflex, Corneal, Absent C0278211 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 5 BXGD006508 Stage I Colon Carcinoma C0278474 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD006509 Stage II Colon Cancer C0278479 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 49 BXGD006510 Stage III Colon Cancer C0278480 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 43 BXGD006511 Malignant neoplasm of colon stage IV C0278484 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 108 BXGD006512 Carcinoma breast stage I C0278485 disease Neoplastic Process T191 Neoplastic Process 8 BXGD006513 Breast cancer stage II C0278486 disease Neoplastic Process T191 Neoplastic Process 10 BXGD006514 Stage III Breast Cancer AJCC v6 C0278487 disease Neoplastic Process T191 Neoplastic Process 12 BXGD006515 Carcinoma breast stage IV C0278488 disease Neoplastic Process T191 Neoplastic Process 573 BXGD006516 Stage IIIA Breast Carcinoma C0278489 disease Neoplastic Process T191 Neoplastic Process 2 BXGD006517 Breast cancer recurrent C0278493 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 41 BXGD006518 Malignant neoplasm of stomach stage I C0278495 disease Neoplastic Process T191 Neoplastic Process 2 BXGD006519 Malignant neoplasm of stomach stage II C0278496 disease Neoplastic Process T191 Neoplastic Process 2 BXGD006520 Malignant neoplasm of stomach stage III C0278497 disease Neoplastic Process T191 Neoplastic Process 5 BXGD006521 Malignant neoplasm of stomach stage IV C0278498 disease Neoplastic Process T191 Neoplastic Process 78 BXGD006522 recurrent gastric cancer C0278502 disease Neoplastic Process T191 Neoplastic Process 16 BXGD006523 Non-small cell lung cancer stage I C0278504 disease Neoplastic Process T191 Neoplastic Process 115 BXGD006524 Non-small cell lung cancer stage II C0278505 disease Neoplastic Process T191 Neoplastic Process 11 BXGD006525 Non-small cell lung cancer stage III C0278506 disease Neoplastic Process T191 Neoplastic Process 16 BXGD006526 Childhood Medulloblastoma C0278510 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 771 BXGD006527 Osteosarcoma localised C0278511 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD006528 Metastatic osteosarcoma C0278512 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 51 BXGD006529 Stage IIIB Breast Carcinoma C0278513 disease Neoplastic Process T191 Neoplastic Process 1 BXGD006530 Non-small cell lung cancer recurrent C0278517 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 13 BXGD006531 Recurrent Childhood Acute Lymphoblastic Leukemia C0278519 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 37 BXGD006532 Rectal cancer stage I C0278535 disease Neoplastic Process T191 Neoplastic Process 4 BXGD006533 Stage III Rectal Cancer AJCC v6 C0278545 disease Neoplastic Process T191 Neoplastic Process 1 BXGD006534 Recurrent Rectal Cancer C0278554 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD006535 Anal cancer recurrent C0278556 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD006536 stage III cervical cancer C0278577 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 2 BXGD006537 Cervix carcinoma recurrent C0278579 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 20 BXGD006538 recurrent cutaneous T-cell lymphoma C0278580 disease Neoplastic Process T191 Neoplastic Process 3 BXGD006539 stage IB cervical cancer C0278582 disease Neoplastic Process T191 Neoplastic Process 2 BXGD006540 Cervical carcinoma stage IIB C0278583 disease Neoplastic Process T191 Neoplastic Process 3 BXGD006541 Metastatic Carcinoma to the Uterine Cervix C0278584 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 15 BXGD006542 Metastatic Ewing's Sarcoma C0278586 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD006543 Ewing's sarcoma recurrent C0278590 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD006544 Adult Angiosarcoma C0278592 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 101 BXGD006545 Adult Fibrosarcoma C0278595 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 387 BXGD006546 Childhood Brain Stem Glioma C0278600 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD006547 Inflammatory Breast Carcinoma C0278601 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 183 BXGD006548 Adult Leiomyosarcoma C0278607 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 141 BXGD006549 Adult Liposarcoma C0278608 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 143 BXGD006550 Extramedullary Plasmacytoma C0278619 C90.20 disease C04;C20 Neoplasms; Immune System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 15 BXGD006551 Adult Malignant Peripheral Nerve Sheath Tumor C0278622 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 62 BXGD006552 Recurrent Childhood Rhabdomyosarcoma C0278649 disease Neoplastic Process T191 Neoplastic Process 5 BXGD006553 Childhood Supratentorial Ependymoma C0278650 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD006554 Childhood Craniopharyngioma C0278652 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 38 BXGD006555 Adult Synovial Sarcoma C0278660 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 198 BXGD006556 Metastatic Renal Cell Cancer C0278678 disease Neoplastic Process T191 Neoplastic Process 145 BXGD006557 Renal cell carcinoma recurrent C0278679 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD006558 metastatic parathyroid cancer C0278681 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD006559 Stage I Ovarian Cancer AJCC v6 and v7 C0278685 disease Neoplastic Process T191 Neoplastic Process 1 BXGD006560 Ovarian epithelial cancer stage II C0278686 disease Neoplastic Process T191 Neoplastic Process 4 BXGD006561 Ovarian cancer stage III C0278687 disease Neoplastic Process T191 Neoplastic Process 9 BXGD006562 Stage IV Ovarian Carcinoma C0278688 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 9 BXGD006563 Recurrent ovarian cancer C0278689 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 71 BXGD006564 Disseminated neuroblastoma C0278694 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 56 BXGD006565 Neuroblastoma recurrent C0278695 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 11 BXGD006566 Gastric Adenocarcinoma C0278701 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 453 BXGD006567 Malignant Childhood Neoplasm C0278704 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 179 BXGD006568 stage IV Wilms tumor C0278714 disease C16;C04;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD006569 recurrent Wilms tumor and other childhood kidney tumors C0278716 disease C16;C04;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD006570 Intraocular retinoblastoma C0278717 disease C04;C11 Neoplasms; Eye Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD006571 Extraocular retinoblastoma C0278719 disease C04;C11 Neoplasms; Eye Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD006572 Adult Lymphoblastic Lymphoma C0278721 disease Neoplastic Process T191 Neoplastic Process 85 BXGD006573 DS Stage I Plasma Cell Myeloma C0278722 disease C04;C20;C15;C14 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD006574 Small cell lung cancer limited stage C0278725 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 14 BXGD006575 Small cell lung cancer extensive stage C0278726 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 13 BXGD006576 Small cell lung cancer recurrent C0278727 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 10 BXGD006577 Mesothelioma malignant advanced C0278752 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 2 BXGD006578 Mesothelioma malignant recurrent C0278753 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD006579 Adult Diffuse Large Cell Lymphoma C0278762 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 39 BXGD006580 Adult Immunoblastic Lymphoma C0278763 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 15 BXGD006581 Adult Burkitt Lymphoma C0278764 disease C04;C01;C20;C15 Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 475 BXGD006582 Chronic lymphocytic leukaemia stage 3 C0278769 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD006583 recurrent childhood acute myeloid leukemia C0278776 disease Neoplastic Process T191 Neoplastic Process 1 BXGD006584 Osteosarcoma recurrent C0278779 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD006585 Recurrent Adult Acute Lymphoblastic Leukemia C0278785 disease Neoplastic Process T191 Neoplastic Process 2 BXGD006586 Recurrent Chronic Myelogenous Leukemia, BCR-ABL1 Positive C0278787 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 8 BXGD006587 Chronic lymphocytic leukaemia refractory C0278791 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 20 BXGD006588 Endometrial neoplasm malignant stage I C0278798 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 2 BXGD006589 Endometrial cancer stage II C0278799 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 1 BXGD006590 Endometrial cancer stage III C0278800 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 4 BXGD006591 Endometrial neoplasm malignant metastatic C0278801 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 9 BXGD006592 Recurrent Endometrial Cancer C0278802 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 24 BXGD006593 Adenocarcinoma of small intestine C0278803 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 34 BXGD006594 Adenocarcinoma of duodenum C0278804 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 14 BXGD006595 Bladder cancer recurrent C0278827 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 7 BXGD006596 Stage I Prostate Carcinoma C0278834 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD006597 Stage III Prostate Carcinoma C0278836 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD006598 Stage IV Prostate Carcinoma C0278837 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD006599 Prostate cancer recurrent C0278838 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 54 BXGD006600 Childhood Diffuse Large Cell Lymphoma C0278840 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 39 BXGD006601 Childhood Immunoblastic Lymphoma C0278844 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 15 BXGD006602 Thymoma malignant invasive C0278846 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD006603 Stage IV Thyroid Gland Papillary Carcinoma AJCC v7 C0278851 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 9 BXGD006604 Growth Hormone-Producing Pituitary Gland Neoplasm C0278864 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 14 BXGD006605 Adult Ependymoma C0278874 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 144 BXGD006606 Adult Craniopharyngioma C0278875 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 38 BXGD006607 Adult Medulloblastoma C0278876 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 762 BXGD006608 Adult Meningioma C0278877 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 405 BXGD006609 Adult Glioblastoma C0278878 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2528 BXGD006610 Childhood Burkitt Lymphoma C0278879 disease C04;C01;C20;C15 Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 477 BXGD006611 Stage I Cutaneous Melanoma AJCC v6 C0278880 disease Neoplastic Process T191 Neoplastic Process 4 BXGD006612 stage II melanoma C0278881 disease Neoplastic Process T191 Neoplastic Process 3 BXGD006613 Stage III Cutaneous Melanoma AJCC v6 C0278882 disease Neoplastic Process T191 Neoplastic Process 24 BXGD006614 Metastatic melanoma C0278883 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 504 BXGD006615 Melanoma recurrent C0278884 phenotype C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 12 BXGD006616 Nasopharyngeal cancer recurrent C0278952 disease C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process T191 Neoplastic Process 13 BXGD006617 Non-small cell lung cancer stage IIIA C0278983 disease Neoplastic Process T191 Neoplastic Process 12 BXGD006618 Non-small cell lung cancer stage IIIB C0278984 disease Neoplastic Process T191 Neoplastic Process 11 BXGD006619 Adult Extraskeletal Osteosarcoma C0278985 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD006620 Metastatic non-small cell lung cancer C0278987 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 106 BXGD006621 Malignant Head and Neck Neoplasm C0278996 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm T191 Neoplastic Process 767 BXGD006622 Liver and Intrahepatic Biliary Tract Carcinoma C0279000 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1395 BXGD006623 Childhood Germ Cell Tumor C0279014 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 62 BXGD006624 Childhood Solid Neoplasm C0279068 phenotype Neoplastic Process T191 Neoplastic Process 169 BXGD006625 Adult Oligodendroglioma C0279070 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 154 BXGD006626 Kaposi's sarcoma classical type C0279084 disease C04;C01 Neoplasms; Infections Neoplastic Process T191 Neoplastic Process 26 BXGD006627 Childhood Lymphoblastic Lymphoma C0279525 disease Neoplastic Process T191 Neoplastic Process 85 BXGD006628 Malignant Bone Neoplasm C0279530 disease C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 125 BXGD006629 Adult Nodular Sclerosis Classical Hodgkin Lymphoma C0279541 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD006630 Philadelphia chromosome positive chronic myelogenous leukemia C0279543 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 27 BXGD006631 Adult Alveolar Soft Part Sarcoma C0279544 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 30 BXGD006632 Adult Epithelioid Sarcoma C0279545 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 33 BXGD006633 Adult Undifferentiated Pleomorphic Sarcoma C0279546 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 27 BXGD006634 Philadelphia chromosome negative chronic myelogenous leukemia C0279549 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 7 BXGD006635 Adult Rhabdomyosarcoma C0279550 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 509 BXGD006636 Adenosquamous cell lung cancer C0279557 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD006637 Lobular carcinoma in situ of breast C0279563 D05.0 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0002664;HP:0000769 Neoplasm; Abnormality of the breast T191 Neoplastic Process 38 BXGD006638 Invasive Lobular Breast Carcinoma C0279565 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 88 BXGD006639 Childhood Burkitt Leukemia C0279582 disease C04;C01;C20;C15 Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 10 BXGD006640 Childhood T Acute Lymphoblastic Leukemia C0279583 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 119 BXGD006641 Childhood B Acute Lymphoblastic Leukemia C0279584 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 99 BXGD006642 Adult Burkitt Leukemia C0279591 disease C04;C01;C20;C15 Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 10 BXGD006643 Adult T Acute Lymphoblastic Leukemia C0279592 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 102 BXGD006644 Adult B Acute Lymphoblastic Leukemia C0279593 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 74 BXGD006645 Fibroblastic osteosarcoma C0279602 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD006646 Chondroblastic osteosarcoma C0279603 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD006647 Childhood Hepatocellular Carcinoma C0279606 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 146 BXGD006648 Adult Hepatocellular Carcinoma C0279607 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 150 BXGD006649 blastema predominant Wilms tumor C0279609 disease C16;C04;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD006650 Childhood Embryonal Rhabdomyosarcoma C0279612 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 67 BXGD006651 Childhood Alveolar Rhabdomyosarcoma C0279613 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 59 BXGD006652 Childhood Pleomorphic Rhabdomyosarcoma C0279614 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD006653 Adult Acute Erythroid Leukemia C0279619 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 8 BXGD006654 Small cell osteosarcoma C0279622 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD006655 Adult Acute Myeloid Leukemia without Maturation C0279623 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD006656 Adult Acute Promyelocytic Leukemia with PML-RARA C0279625 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD006657 Squamous cell carcinoma of esophagus C0279626 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2053 BXGD006658 Adult Acute Myelomonocytic Leukemia C0279627 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 28 BXGD006659 Adenocarcinoma Of Esophagus C0279628 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 468 BXGD006660 Adult Acute Monoblastic Leukemia C0279629 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 19 BXGD006661 Adult Acute Eosinophilic Leukemia C0279630 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD006662 Adult Acute Basophilic Leukemia C0279631 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD006663 Adult Acute Megakaryoblastic Leukemia C0279632 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 38 BXGD006664 intestinal adenocarcinoma of the stomach C0279633 disease Neoplastic Process T191 Neoplastic Process 4 BXGD006665 Anal carcinoma C0279637 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 42 BXGD006666 Childhood Acute Promyelocytic Leukemia with PML-RARA C0279641 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD006667 Undifferentiated Carcinoma of Colon C0279643 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD006668 Childhood Acute Myelomonocytic Leukemia C0279644 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 28 BXGD006669 Childhood Acute Monoblastic Leukemia C0279645 disease Neoplastic Process T191 Neoplastic Process 19 BXGD006670 Childhood Acute Monocytic Leukemia C0279646 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 70 BXGD006671 Childhood Acute Eosinophilic Leukemia C0279648 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD006672 Childhood Acute Basophilic Leukemia C0279649 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD006673 Childhood Acute Megakaryoblastic Leukemia C0279650 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 45 BXGD006674 Gallbladder adenocarcinoma C0279651 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 53 BXGD006675 Acinar cell carcinoma of pancreas C0279661 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD006676 Serous cystadenocarcinoma ovary C0279663 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 24 BXGD006677 Cervical Squamous Cell Carcinoma C0279671 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 371 BXGD006678 Cervical Adenocarcinoma C0279672 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 82 BXGD006679 Small cell carcinoma of the cervix C0279674 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD006680 Transitional cell carcinoma of bladder C0279680 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 333 BXGD006681 Bladder Squamous Cell Carcinoma C0279681 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD006682 Bladder Adenocarcinoma C0279682 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 14 BXGD006683 salivary gland squamous cell carcinoma C0279697 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD006684 Squamous cell carcinoma of nasopharynx C0279698 disease C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process T191 Neoplastic Process 9 BXGD006685 Conventional (Clear Cell) Renal Cell Carcinoma C0279702 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2346 BXGD006686 Thymoma, type B3 C0279705 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD006687 Lymphoepithelial malignant thymoma C0279706 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD006688 Testicular yolk sac tumour C0279708 disease C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD006689 low-grade salivary gland carcinoma C0279737 disease Neoplastic Process T191 Neoplastic Process 4 BXGD006690 high-grade salivary gland carcinoma C0279743 disease Neoplastic Process T191 Neoplastic Process 1 BXGD006691 high-grade salivary gland mucoepidermoid carcinoma C0279744 disease Neoplastic Process T191 Neoplastic Process 1 BXGD006692 Adenocarcinoma of salivary gland C0279746 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 10 BXGD006693 Undifferentiated carcinoma of nasopharynx C0279748 disease Neoplastic Process T191 Neoplastic Process 23 BXGD006694 Adenoid cystic carcinoma of salivary gland C0279751 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 47 BXGD006695 endometrial adenoacanthoma C0279763 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD006696 Endometrial Clear Cell Adenocarcinoma C0279765 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD006697 metastatic pheochromocytoma C0279821 disease Neoplastic Process T191 Neoplastic Process 8 BXGD006698 recurrent pheochromocytoma C0279822 disease Neoplastic Process T191 Neoplastic Process 1 BXGD006699 Childhood Nodular Sclerosis Classic Hodgkin Lymphoma C0279921 disease Neoplastic Process T191 Neoplastic Process 1 BXGD006700 Metastatic Childhood Soft Tissue Sarcoma C0279942 disease Neoplastic Process T191 Neoplastic Process 3 BXGD006701 Extra-osseous Ewing's sarcoma C0279980 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD006702 Childhood Synovial Sarcoma C0279982 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 198 BXGD006703 Childhood Liposarcoma C0279984 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 143 BXGD006704 Childhood Alveolar Soft Part Sarcoma C0279985 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 30 BXGD006705 Childhood Leiomyosarcoma C0279986 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 140 BXGD006706 Childhood Malignant Peripheral Nerve Sheath Tumor C0279987 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 62 BXGD006707 Childhood Angiosarcoma C0279988 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 101 BXGD006708 Childhood Epithelioid Sarcoma C0279989 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 33 BXGD006709 childhood malignant fibrous histiocytoma of bone C0279990 disease Neoplastic Process T191 Neoplastic Process 2 BXGD006710 Refractory anemia with excess blasts in transformation (clinical) C0280028 C92.0 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 10 BXGD006711 Carcinoid tumor of lung C0280089 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 14 BXGD006712 Adult Solid Neoplasm C0280099 group Neoplastic Process T191 Neoplastic Process 163 BXGD006713 Solid Neoplasm C0280100 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1145 BXGD006714 Ovarian Teratoma C0280131 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD006715 Ovarian germ cell tumour mixed C0280135 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD006716 Acute Undifferentiated Leukemia C0280141 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 119 BXGD006717 stage, Kaposi sarcoma C0280201 disease C04;C01 Neoplasms; Infections Neoplastic Process T191 Neoplastic Process 2 BXGD006718 stage, nasopharyngeal cancer C0280214 disease C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD006719 stage, neuroblastoma C0280216 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 27 BXGD006720 stage, non-small cell lung cancer C0280217 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 107 BXGD006721 stage, bladder cancer C0280218 phenotype C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 17 BXGD006722 stage, ovarian epithelial cancer C0280220 disease Neoplastic Process T191 Neoplastic Process 65 BXGD006723 stage, pancreatic cancer C0280222 phenotype C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 18 BXGD006724 stage, cervical cancer C0280232 phenotype C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 48 BXGD006725 stage, rectal cancer C0280242 phenotype C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD006726 stage, chronic lymphocytic leukemia C0280248 phenotype C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD006727 stage, colon cancer C0280252 phenotype C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 18 BXGD006728 stage, gastric cancer C0280253 phenotype Neoplastic Process T191 Neoplastic Process 34 BXGD006729 stage, endometrial carcinoma C0280255 phenotype C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 19 BXGD006730 stage, esophageal cancer C0280257 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD006731 stage, prostate cancer C0280280 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 58 BXGD006732 lip and oral cavity squamous cell carcinoma C0280297 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD006733 Squamous cell carcinoma of buccal mucosa C0280299 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 9 BXGD006734 Hard Palate Squamous Cell Carcinoma C0280301 disease Neoplastic Process T191 Neoplastic Process 1 BXGD006735 Squamous cell carcinoma of lip C0280302 disease C04;C17;C07 Neoplasms; Skin and Connective Tissue Diseases; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 32 BXGD006736 Verrucous carcinoma of oral cavity C0280306 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD006737 Squamous cell carcinoma of oropharynx C0280313 disease C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm T191 Neoplastic Process 155 BXGD006738 Squamous cell carcinoma of tonsil C0280317 disease C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process T191 Neoplastic Process 30 BXGD006739 Squamous cell carcinoma of the hypopharynx C0280321 disease Neoplastic Process T191 Neoplastic Process 103 BXGD006740 Laryngeal Squamous Cell Carcinoma C0280324 disease C04;C08;C09 Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 504 BXGD006741 Glottic Squamous Cell Carcinoma C0280325 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD006742 Squamous cell carcinoma of the nasal cavity C0280333 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD006743 Metastatic Squamous Cell Carcinoma of the Oropharynx C0280374 disease Neoplastic Process T191 Neoplastic Process 4 BXGD006744 Laryngeal squamous cell carcinoma recurrent C0280401 disease Neoplastic Process T191 Neoplastic Process 6 BXGD006745 Adult T-cell lymphoma/leukaemia recurrent C0280427 C91.52 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD006746 secondary acute myeloid leukemia C0280449 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 91 BXGD006747 de novo myelodysplastic syndromes C0280451 disease C15 Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 27 BXGD006748 Childhood Glioblastoma C0280474 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2527 BXGD006749 Childhood Oligodendroglioma C0280475 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 154 BXGD006750 Adult Anaplastic Astrocytoma C0280483 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 90 BXGD006751 Uterine Carcinosarcoma C0280630 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 41 BXGD006752 Leiomyosarcoma of uterus C0280631 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 71 BXGD006753 Adult Acute Monocytic Leukemia C0280634 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 70 BXGD006754 Adult Cholangiocarcinoma C0280725 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD006755 AIDS-related malignancies C0280734 group C04;C01;C20 Neoplasms; Infections; Immune System Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD006756 secondary myelodysplastic syndromes C0280745 disease C15 Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 11 BXGD006757 Sarcoma of ovary C0280746 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD006758 Adult Pilocytic Astrocytoma C0280781 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 92 BXGD006759 Juvenile Pilocytic Astrocytoma C0280783 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 38 BXGD006760 Diffuse Astrocytoma C0280785 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 81 BXGD006761 Adult Anaplastic Ependymoma C0280787 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD006762 Anaplastic Ependymoma C0280788 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 28 BXGD006763 Adult Anaplastic Oligodendroglioma C0280790 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 29 BXGD006764 Mixed Oligodendroglioma-Astrocytoma C0280793 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 28 BXGD006765 Grade III Meningioma C0280801 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD006766 Primary central nervous system lymphoma C0280803 disease C04;C20;C10;C15 Neoplasms; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Neoplastic Process HP:0002664;HP:0001871 Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 156 BXGD006767 Squamous cell carcinoma of vulva C0280856 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 57 BXGD006768 Bone Marrow Suppression C0280962 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD006769 AIDS-related diffuse large cell lymphoma C0281242 disease Neoplastic Process T191 Neoplastic Process 1 BXGD006770 bilateral breast cancer C0281267 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 31 BXGD006771 Adult Subependymoma C0281328 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 7 BXGD006772 Adult Pineocytoma C0281331 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD006773 Adult Pineoblastoma C0281332 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD006774 Adenocarcinoma of pancreas C0281361 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 518 BXGD006775 Respiratory papilloma C0281373 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD006776 Primary Systemic Amyloidosis C0281479 disease C04;C18;C20 Neoplasms; Nutritional and Metabolic Diseases; Immune System Diseases Neoplastic Process T191 Neoplastic Process 27 BXGD006777 Desmoplastic Small Round Cell Tumor C0281508 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 43 BXGD006778 Intraocular Lymphoma C0281658 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 19 BXGD006779 Childhood Large Cell Lymphoma C0281710 disease Neoplastic Process T191 Neoplastic Process 30 BXGD006780 Acute glaucoma C0281773 disease Disease or Syndrome T047 Disease or Syndrome 11 BXGD006781 Acute psychosis C0281774 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD006782 Anal abscess C0281778 K61.0 disease C23;C06;C01 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD006783 Condyloma anal C0281779 disease C06;C04;C01;C17 Digestive System Diseases; Neoplasms; Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006784 asymptomatic hyperuricemia C0281782 E79.0 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD006785 Benign Meningioma C0281784 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 35 BXGD006786 Biventricular hypertrophy C0281788 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 11 BXGD006787 Abnormality of the fallopian tube C0281842 phenotype Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 22 BXGD006788 Prolapsed lumbar disc C0281899 disease C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Acquired Abnormality T020 Acquired Abnormality 75 BXGD006789 maladjustment C0281902 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 13 BXGD006790 Peripheral arteriosclerosis C0281944 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006791 Pseudohypothyroidism C0281952 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006792 Retinal infarction C0281967 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 1 BXGD006793 Superficial Infection C0282002 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD006794 Dilation of the thoracic aorta C0282008 disease C14 Cardiovascular Diseases Anatomical Abnormality T190 Anatomical Abnormality 3 BXGD006795 Chondrodysplasia punctata, X-linked dominant type C0282102 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 9 BXGD006796 Depression, Neurotic C0282126 F34.1 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 41 BXGD006797 Aplasia Cutis Congenita C0282160 Q84.8 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality HP:0001574 Abnormality of the integument T019 Congenital Abnormality 393 BXGD006798 Iron Overload C0282193 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 241 BXGD006799 Phosphate Diabetes C0282201 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 51 BXGD006800 Cronkhite-Canada Syndrome C0282207 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD006801 Amaurotic Familial Idiocy C0282220 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006802 Bubonic Plague C0282312 A20.0 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 3 BXGD006803 Condition, Preneoplastic C0282313 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 122 BXGD006804 Interstitial Cystitis C0282488 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 122 BXGD006805 Sneddon Syndrome C0282492 disease C17;C10;C14 Skin and Connective Tissue Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD006806 Heat Stress Disorders C0282507 phenotype C26 Wounds and Injuries Injury or Poisoning T037 Injury or Poisoning 3 BXGD006807 Landau-Kleffner Syndrome C0282512 G40.8 disease C10 Nervous System Diseases Mental or Behavioral Dysfunction DOID:7 disease of anatomical entity T048 Mental or Behavioral Dysfunction 2 BXGD006808 Primary Progressive Aphasia (disorder) C0282513 G31.01 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction DOID:630;DOID:7;DOID:150 genetic disease; disease of anatomical entity; disease of mental health T048 Mental or Behavioral Dysfunction 51 BXGD006809 Adrenoleukodystrophy, Neonatal C0282525 E71.511 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD006810 Hyperpipecolic Acidemia C0282526 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD006811 Infantile Refsum Disease (disorder) C0282527 G60.1 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 18 BXGD006812 Peroxisomal Disorders C0282528 E71.50 group C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 25 BXGD006813 Chondrodysplasia Punctata, Rhizomelic C0282529 E71.540 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 8 BXGD006814 Leukostasis C0282548 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 25 BXGD006815 Persian Gulf Syndrome C0282550 disease C24 Occupational Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 5 BXGD006816 Congenital Disorders of Glycosylation C0282577 group C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 102 BXGD006817 Myomatous neoplasm C0282606 disease C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 25 BXGD006818 Vascular Neoplasms C0282607 group C04;C14 Neoplasms; Cardiovascular Diseases Neoplastic Process HP:0002664;HP:0001626 Neoplasm; Abnormality of the cardiovascular system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 15 BXGD006819 Bone Marrow Neoplasms C0282609 group C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 16 BXGD006820 Prostatic Intraepithelial Neoplasias C0282612 N42.31 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 230 BXGD006821 Facies C0282631 group C23 Pathological Conditions, Signs and Symptoms Organism Attribute T032 Organism Attribute 10 BXGD006822 Smith-Lemli-Opitz Syndrome, Type I C0282643 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006823 Smith-Lemli-Opitz Syndrome, Type II C0282644 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006824 Very Low Birth Weight C0282666 phenotype Sign or Symptom T184 Sign or Symptom 42 BXGD006825 Infant, Very Low Birth Weight C0282667 disease Disease or Syndrome T047 Disease or Syndrome 26 BXGD006826 Hemorrhagic Fever, Ebola C0282687 A98.4 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 164 BXGD006827 Primary Amebic Meningoencephalitis C0300934 B60.2 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 1 BXGD006828 Caudal Regression Syndrome C0300948 disease C23;C16;C05;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 12 BXGD006829 Hypersensitivity reaction mediated by immune complex C0301918 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD006830 Achromatopsia 1 C0302129 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 20 BXGD006831 Deformity C0302142 group C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality T190 Anatomical Abnormality 350 BXGD006832 Tuberous xanthoma C0302164 E78.2 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD006833 Condyloma C0302180 disease Disease or Syndrome T047 Disease or Syndrome 40 BXGD006834 Juvenile cataract C0302254 disease C11 Eye Diseases Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 16 BXGD006835 Glutamine measurement C0302274 phenotype Laboratory Procedure T059 Laboratory Procedure 5 BXGD006836 Adrenogenital Syndrome C0302280 E25.9 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 16 BXGD006837 Xanthoma C0302314 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 29 BXGD006838 Porokeratosis, Linear C0302319 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD006839 Reticulohistiocytosis C0302323 disease Neoplastic Process T191 Neoplastic Process 1 BXGD006840 Malignant lymphoma centroblastic, diffuse C0302329 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD006841 Poisoning syndrome C0302332 disease Disease or Syndrome T047 Disease or Syndrome 14 BXGD006842 Disease caused by Shigella dysenteriae C0302358 A03.0 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 15 BXGD006843 Disease caused by Shigella boydii C0302360 A03.2 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 5 BXGD006844 Disease caused by Shigella sonnei C0302361 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 11 BXGD006845 Brucella melitensis infection C0302362 A23.0 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 17 BXGD006846 Dissecting Abdominal Aortic Aneurysm C0302465 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD006847 Erythrophagocytosis C0302486 disease Disease or Syndrome T047 Disease or Syndrome 40 BXGD006848 Parainfluenza Virus Infections C0302507 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 7 BXGD006849 Small for gestational age fetus C0302511 phenotype C23 Pathological Conditions, Signs and Symptoms Finding T033 Finding 156 BXGD006850 Pathological personality NOS C0302527 F60.9 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD006851 Cervix carcinoma C0302592 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1881 BXGD006852 Fulminant hepatitis C0302809 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T047 Disease or Syndrome 57 BXGD006853 Uremia syndrome C0302810 disease C18;C13;C12 Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD006854 Expressed Emotion C0302826 phenotype F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD006855 Toxic thyroid adenoma C0302840 disease C04;C19 Neoplasms; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD006856 MCV - raised C0302845 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 12 BXGD006857 OSTEOLYTIC BONE LESION C0302846 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD006858 major affective disorder C0302847 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD006859 Euthyroid Goiter C0302859 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD006860 MYELOMA, ENDOTHELIAL C0302872 disease Neoplastic Process T191 Neoplastic Process 2 BXGD006861 Depressive personality disorder C0302874 F34.1 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD006862 SMITH DISEASE C0302883 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD006863 Testicular dysgenesis C0302885 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T019 Congenital Abnormality 13 BXGD006864 Congenital porencephaly C0302892 Q04.6 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 9 BXGD006865 Stucco keratosis C0302894 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD006866 Dermatitis verrucosa C0311213 B43.0 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD006867 Cutaneous pseudolymphoma C0311220 disease C04;C17;C15 Neoplasms; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm T191 Neoplastic Process 7 BXGD006868 Goniodysgenesis C0311237 disease Congenital Abnormality DOID:630 genetic disease T019 Congenital Abnormality 6 BXGD006869 Congenital cystic kidney disease C0311245 disease C23;C04;C13;C12 Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047;T019 Disease or Syndrome; Congenital Abnormality 31 BXGD006870 Simple buphthalmos C0311251 disease Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 3 BXGD006871 Chronic mesenteric ischemia C0311262 disease C06;C14 Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD006872 Irreducible ventral hernia C0311269 phenotype C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality T020 Acquired Abnormality 3 BXGD006873 Severe malnutrition C0311276 disease Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 13 BXGD006874 Obesity, Abdominal C0311277 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001507 Growth abnormality T033 Finding 21 BXGD006875 Lipoid dermatoarthritis C0311284 E78.81 disease C23;C05;C15 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 2 BXGD006876 Generalized convulsive epilepsy C0311334 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD006877 Grand Mal Status Epilepticus C0311335 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 75 BXGD006878 Fundus Albipunctatus C0311338 disease C11 Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T019 Congenital Abnormality 9 BXGD006879 Membranous conjunctivitis C0311343 disease C01;C11 Infections; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD006880 Adenomatous goiter C0311361 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 23 BXGD006881 Idiopathic eosinophilia C0311368 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD006882 Lupus anticoagulant disorder C0311370 D68.62 disease C23;C20;C15 Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 66 BXGD006883 Arsenic Poisoning C0311375 T57.0X disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 64 BXGD006884 Difficulty walking C0311394 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 224 BXGD006885 Increased bilirubin level (finding) C0311468 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 14 BXGD006886 Menstrual spotting C0312414 phenotype Sign or Symptom T184 Sign or Symptom 27 BXGD006887 Hypersexuality state C0312420 disease F03;F01 Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 8 BXGD006888 Blackout - symptom C0312422 R55 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Sign or Symptom T184 Sign or Symptom 4 BXGD006889 Extravascular Hemolysis C0312854 disease C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 6 BXGD006890 Dryness of eye C0314719 phenotype C11 Eye Diseases Sign or Symptom T184 Sign or Symptom 149 BXGD006891 Morphologically abnormal structure (morphologic abnormality) C0332447 group Anatomical Abnormality T190 Anatomical Abnormality 20 BXGD006892 Erythematous plaque C0332477 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 2 BXGD006893 Fibrous nodule C0332561 disease C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD006894 Papule C0332563 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001574 Abnormality of the integument T033 Finding 76 BXGD006895 Macule C0332573 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 31 BXGD006896 Cushingoid facies C0332601 phenotype C19 Endocrine System Diseases Sign or Symptom HP:0000152 Abnormality of head or neck T184 Sign or Symptom 6 BXGD006897 Elfin facies C0332606 phenotype Sign or Symptom HP:0000152 Abnormality of head or neck T184 Sign or Symptom 11 BXGD006898 Myopathic facies C0332615 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 44 BXGD006899 Osseous ankylosis C0332790 disease C05 Musculoskeletal Diseases Acquired Abnormality HP:0000924 Abnormality of the skeletal system T020 Acquired Abnormality 10 BXGD006900 Amputated structure (morphologic abnormality) C0332840 phenotype C26 Wounds and Injuries Acquired Abnormality T020 Acquired Abnormality 94 BXGD006901 Anastomosis C0332853 disease Acquired Abnormality T020 Acquired Abnormality 155 BXGD006902 Congenital dysplasia C0332865 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 2 BXGD006903 Congenital premature fusion C0332877 disease Congenital Abnormality T019 Congenital Abnormality 6 BXGD006904 Congenital contracture C0332878 group C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000924;HP:0003549;HP:0003011 Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T019 Congenital Abnormality 31 BXGD006905 Congenital pseudoarthrosis C0332881 disease C26 Wounds and Injuries Congenital Abnormality T019 Congenital Abnormality 1 BXGD006906 congenital obstruction C0332882 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 1 BXGD006907 Coarctation C0332886 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality T190 Anatomical Abnormality 8 BXGD006908 Congenital hypertrophy C0332887 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 2 BXGD006909 Congenital hemihypertrophy C0332890 disease C23;C16;C13 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality HP:0040064;HP:0001507 Abnormality of limbs; Growth abnormality T019 Congenital Abnormality 23 BXGD006910 Congenital unilateral absence C0332909 disease Congenital Abnormality T019 Congenital Abnormality 2 BXGD006911 bilateral agenesis C0332910 disease Congenital Abnormality T019 Congenital Abnormality 2 BXGD006912 Congenital failure of fusion C0332915 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 11 BXGD006913 Overriding structures C0332949 disease Congenital Abnormality T019 Congenital Abnormality 2 BXGD006914 Anomalous vascular distribution C0332962 disease Congenital Abnormality T019 Congenital Abnormality 2 BXGD006915 Malassez' epithelial rests C0332983 disease Congenital Abnormality T019 Congenital Abnormality 6 BXGD006916 Congenital hypopigmentation C0333008 disease C17 Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD006917 Microlithiasis C0333027 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 3 BXGD006918 Fungus ball C0333040 disease C26 Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 4 BXGD006919 Recession C0333047 disease Anatomical Abnormality T190 Anatomical Abnormality 13 BXGD006920 Flexion contracture C0333068 M21.2 disease C05 Musculoskeletal Diseases Finding HP:0000924;HP:0003549;HP:0003011 Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T033 Finding 210 BXGD006921 Fusiform Aneurysm C0333099 disease C14 Cardiovascular Diseases Anatomical Abnormality T190 Anatomical Abnormality 2 BXGD006922 Microaneurysm C0333101 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD006923 Sacculation C0333113 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality T190 Anatomical Abnormality 14 BXGD006924 Open comedone C0333128 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 2 BXGD006925 Mucus cast C0333133 disease Acquired Abnormality T020 Acquired Abnormality 14 BXGD006926 Colloid Cysts C0333157 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD006927 Air cyst C0333160 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Acquired Abnormality T020 Acquired Abnormality 4 BXGD006928 Pseudocyst C0333161 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Acquired Abnormality T020 Acquired Abnormality 8 BXGD006929 Partial stenosis C0333183 disease C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality T020 Acquired Abnormality 1 BXGD006930 Calcific stenosis C0333184 disease C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality T020 Acquired Abnormality 3 BXGD006931 Occlusive thrombus C0333203 disease C14 Cardiovascular Diseases Acquired Abnormality T020 Acquired Abnormality 2 BXGD006932 Mural thrombus C0333205 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD006933 Fibrin thrombus C0333208 disease C14 Cardiovascular Diseases Acquired Abnormality T020 Acquired Abnormality 4 BXGD006934 Platelet thrombus C0333209 disease C14 Cardiovascular Diseases Acquired Abnormality T020 Acquired Abnormality 17 BXGD006935 Microembolus C0333227 disease C14 Cardiovascular Diseases Acquired Abnormality T020 Acquired Abnormality 7 BXGD006936 Active Hyperemia C0333233 phenotype C14 Cardiovascular Diseases Pathologic Function T046 Pathologic Function 13 BXGD006937 Acute edema C0333240 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 2 BXGD006938 Pitting edema C0333243 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD006939 Transient edema C0333244 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 2 BXGD006940 Purulent discharge C0333274 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD006941 Bleeding ulcer C0333291 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 16 BXGD006942 Healing ulcer C0333293 disease C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality T020 Acquired Abnormality 43 BXGD006943 Recurrent ulcer C0333294 disease C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality T020 Acquired Abnormality 3 BXGD006944 Acute ulcer C0333295 disease C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality T020 Acquired Abnormality 1 BXGD006945 Chronic ulcer C0333297 disease C23;C06;C17 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD006946 Superficial ulcer C0333307 disease C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality T020 Acquired Abnormality 242 BXGD006947 Sequestrum C0333311 disease C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality T190 Anatomical Abnormality 2 BXGD006948 Involucrum C0333319 disease Acquired Abnormality T020 Acquired Abnormality 1 BXGD006949 Spontaneous Perforation C0333324 disease C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality T020 Acquired Abnormality 1 BXGD006950 Inflammatory disease of mucous membrane C0333355 group C06;C07 Digestive System Diseases; Stomatognathic Diseases Pathologic Function DOID:7 disease of anatomical entity T046 Pathologic Function 18 BXGD006951 Abscess cavity C0333372 disease C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD006952 Hyaline body C0333440 disease Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 14 BXGD006953 Granulovacuolar degeneration C0333454 phenotype Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 1 BXGD006954 Senile Plaques C0333463 disease C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality HP:0000707 Abnormality of the nervous system T020 Acquired Abnormality 249 BXGD006955 Phlebosclerosis C0333494 I87.8 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD006956 Segmental glomerulosclerosis C0333497 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD006957 Tumor necrosis C0333516 phenotype C23 Pathological Conditions, Signs and Symptoms Neoplastic Process T191 Neoplastic Process 350 BXGD006958 Caries (morphologic abnormality) C0333519 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 106 BXGD006959 Deep caries C0333523 phenotype C23;C07 Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD006960 Infarction, Lacunar C0333559 I63.81 disease C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 36 BXGD006961 Atrophic C0333641 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 58 BXGD006962 Abiotrophy C0333648 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD006963 Hemiatrophy C0333662 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0040064;HP:0000924;HP:0001507 Abnormality of limbs; Abnormality of the skeletal system; Growth abnormality T046 Pathologic Function 1 BXGD006964 Triploidy syndrome C0333693 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 42 BXGD006965 Chromosome Breaks C0333704 phenotype C23 Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 14 BXGD006966 Muscle fiber atrophy C0333751 phenotype Cell or Molecular Dysfunction HP:0003011 Abnormality of the musculature T049 Cell or Molecular Dysfunction 25 BXGD006967 Muscle fiber hypertrophy C0333759 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 3 BXGD006968 Tubular aggregates C0333768 phenotype Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 2 BXGD006969 Pappenheimer body (morphologic abnormality) C0333814 phenotype Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 1 BXGD006970 Giant platelet (morphologic abnormality) C0333864 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 10 BXGD006971 Squamous intraepithelial lesion C0333873 phenotype C23;C04;C13 Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 73 BXGD006972 High-Grade Squamous Intraepithelial Lesions C0333875 phenotype C23;C04;C13 Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 150 BXGD006973 Hypochromatism C0333912 phenotype Finding T033 Finding 5 BXGD006974 Focal Nodular Hyperplasia C0333980 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 21 BXGD006975 Hyperplastic Polyp C0333983 disease C23 Pathological Conditions, Signs and Symptoms Neoplastic Process T191 Neoplastic Process 204 BXGD006976 Lymphoid hyperplasia C0333997 disease C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 39 BXGD006977 Nodular lymphoid hyperplasia C0333998 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD006978 Phrynoderma C0334013 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 19 BXGD006979 Apocrine metaplasia C0334036 disease Neoplastic Process T191 Neoplastic Process 7 BXGD006980 Intestinal metaplasia C0334037 phenotype Disease or Syndrome T047 Disease or Syndrome 266 BXGD006981 Nephrogenic metaplasia C0334039 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD006982 Osteoma cutis C0334041 disease C23;C16;C18;C17;C05 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 4 BXGD006983 Adenosis C0334050 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 8 BXGD006984 cystic disease C0334054 disease Disease or Syndrome T047 Disease or Syndrome 19 BXGD006985 Non-Ossifying Fibroma C0334067 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD006986 Maturation defect C0334070 phenotype Acquired Abnormality T020 Acquired Abnormality 43 BXGD006987 NEVUS, EPIDERMAL (disorder) C0334082 disease C04 Neoplasms Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD006988 Connective tissue nevus, NOS C0334083 disease C04 Neoplasms Neoplastic Process HP:0001574;HP:0003549 Abnormality of the integument; Abnormality of connective tissue T191 Neoplastic Process 6 BXGD006989 Biliary hamartoma C0334091 disease C04 Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T191 Neoplastic Process 2 BXGD006990 Hamartomatous polyp C0334092 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD006991 Intimal proliferation C0334096 phenotype Pathologic Function T046 Pathologic Function 7 BXGD006992 Lymphangiomatosis C0334102 disease C04;C15;C14 Neoplasms; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD006993 Bowenoid papulosis C0334106 disease C04;C01;C17 Neoplasms; Infections; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD006994 Multiple polyps C0334108 disease C23 Pathological Conditions, Signs and Symptoms Neoplastic Process T191 Neoplastic Process 77 BXGD006995 Eosinophilic granulomatous polyp C0334113 disease C23 Pathological Conditions, Signs and Symptoms Neoplastic Process T191 Neoplastic Process 1 BXGD006996 Inflammatory Myofibroblastic Tumor C0334121 disease C23 Pathological Conditions, Signs and Symptoms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 92 BXGD006997 Fibrous bands C0334163 disease C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality DOID:7 disease of anatomical entity T020 Acquired Abnormality 3 BXGD006998 Pseudoainhum C0334166 disease C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome HP:0001197 Abnormality of prenatal development or birth T047 Disease or Syndrome 5 BXGD006999 Atrophic endometrium C0334192 phenotype C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 13 BXGD007000 Malignant tumor, giant cell type C0334229 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD007001 Malignant tumor, fusiform cell type C0334230 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD007002 Pleomorphic carcinoma C0334233 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 16 BXGD007003 Combined small cell carcinoma C0334240 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD007004 Papillary squamous cell carcinoma C0334244 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 3 BXGD007005 Intraepithelial Squamous Cell Carcinoma C0334245 disease C23;C04;C13 Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD007006 Squamous cell carcinoma, metastatic C0334246 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 13 BXGD007007 Squamous cell carcinoma, keratinizing C0334247 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 6 BXGD007008 Acantholytic squamous cell carcinoma C0334250 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD007009 Squamous cell carcinoma, microinvasive C0334252 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD007010 Lymphoepithelial carcinoma C0334254 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 28 BXGD007011 Trichilemmoma C0334263 disease C04 Neoplasms Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm T191 Neoplastic Process 8 BXGD007012 Transitional Cell Neoplasm C0334265 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 7 BXGD007013 Transitional cell carcinoma in situ C0334267 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 15 BXGD007014 Schneiderian papilloma C0334268 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD007015 Papillary transitional cell carcinoma C0334274 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 5 BXGD007016 Adenocarcinoma in Situ C0334276 phenotype C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 55 BXGD007017 Adenocarcinoma, metastatic C0334277 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 31 BXGD007018 Adenocarcinoma, intestinal type C0334279 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 23 BXGD007019 Carcinoma, diffuse type C0334280 phenotype C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD007020 Insulinoma, malignant C0334281 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD007021 Bile duct cystadenocarcinoma C0334286 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD007022 Fibrolamellar Hepatocellular Carcinoma C0334287 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 46 BXGD007023 tubular adenomas and adenocarcinomas C0334291 disease Neoplastic Process T191 Neoplastic Process 2 BXGD007024 Tubular adenoma C0334292 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 17 BXGD007025 Multiple adenomatous polyps C0334294 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 43 BXGD007026 Solid carcinoma C0334296 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD007027 Carcinoid tumor no ICD-O subtype C0334299 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 122 BXGD007028 Adenocarcinoid tumor C0334302 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD007029 Tubulovillous adenoma C0334307 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 20 BXGD007030 Cystadenofibroma C0334317 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD007031 Lipid-rich carcinoma C0334318 phenotype C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD007032 Juxtaglomerular tumor C0334331 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD007033 Endometrioid adenoma C0334337 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD007034 Endometrioid adenoma, borderline malignancy C0334338 disease Neoplastic Process T191 Neoplastic Process 1 BXGD007035 Skin appendage adenoma C0334342 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD007036 Sweat gland adenocarcinoma C0334344 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD007037 Apocrine adenoma C0334345 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD007038 Apocrine adenocarcinoma C0334346 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD007039 Eccrine spiradenoma C0334347 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 20 BXGD007040 Hidradenoma Papilliferum C0334348 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD007041 Eccrine papillary adenoma C0334350 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD007042 Serous cystadenoma, borderline malignancy C0334355 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD007043 Papillary cystic tumor C0334357 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 9 BXGD007044 Papillary serous cystadenocarcinoma C0334359 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 28 BXGD007045 Serous surface papillary carcinoma C0334361 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 14 BXGD007046 Mucinous cystic tumor of borderline malignancy C0334365 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD007047 Mucin-producing adenocarcinoma C0334368 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 1 BXGD007048 Comedocarcinoma, noninfiltrating C0334369 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD007049 Secretory breast carcinoma C0334371 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 19 BXGD007050 Noninfiltrating intraductal papillary adenocarcinoma C0334372 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD007051 Intraductal papillary adenocarcinoma with invasion C0334373 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 3 BXGD007052 Non-infiltrating lobular carcinoma C0334381 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 14 BXGD007053 Infiltrating duct and lobular carcinoma C0334384 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 8 BXGD007054 Inflammatory carcinoma C0334385 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD007055 Epithelial-myoepithelial carcinoma C0334392 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD007056 Malignant Ovarian Thecoma C0334398 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD007057 Sclerosing stromal tumor C0334400 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD007058 Malignant Granulosa Cell Tumor C0334401 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD007059 Juvenile granulosa cell tumor C0334403 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD007060 Leydig cell tumor, benign C0334409 disease C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 18 BXGD007061 Sympathetic paraganglioma C0334415 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD007062 Parasympathetic paraganglioma C0334416 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD007063 Pheochromocytoma, malignant C0334419 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD007064 Nodular melanoma C0334424 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 15 BXGD007065 Malignant melanoma, regressing C0334427 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD007066 Melanocytoma C0334431 disease Neoplastic Process T191 Neoplastic Process 18 BXGD007067 Nonpigmented nevus C0334432 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD007068 Superficial spreading malignant melanoma of skin C0334438 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm T191 Neoplastic Process 25 BXGD007069 Malignant desmoplastic melanoma C0334439 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 7 BXGD007070 Epithelioid Cell Melanoma C0334443 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 4 BXGD007071 Spindle Cell Melanoma C0334444 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 4 BXGD007072 Malignant blue nevus of skin C0334447 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 7 BXGD007073 Cellular Blue Nevus C0334448 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 9 BXGD007074 Infantile fibrosarcoma C0334459 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 17 BXGD007075 Elastofibroma C0334460 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD007076 Malignant Fibrous Histiocytoma C0334463 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 150 BXGD007077 Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor) C0334464 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD007078 Fibrolipoma C0334467 disease C04 Neoplasms Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 1 BXGD007079 Round Cell Liposarcoma C0334471 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 17 BXGD007080 Intramuscular lipoma C0334473 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 3 BXGD007081 Spindle cell lipoma C0334474 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 8 BXGD007082 Cellular leiomyoma C0334477 disease C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 5 BXGD007083 Bizarre leiomyoma C0334478 disease C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 3 BXGD007084 Pleomorphic Rhabdomyosarcoma C0334480 disease C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD007085 Fetal rhabdomyoma C0334482 disease C16;C04;C13;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD007086 Endometrial stromal nodule C0334485 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD007087 Low Grade Endometrial Stromal Sarcoma C0334486 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 14 BXGD007088 Clear cell sarcoma of kidney C0334488 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 31 BXGD007089 Pancreatoblastoma C0334489 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD007090 Malignant mesenchymal tumor C0334492 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD007091 Proliferating Brenner Tumor C0334494 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD007092 Synovial sarcoma, spindle cell C0334505 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD007093 Synovial sarcoma, epithelioid cell C0334506 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD007094 Synovial sarcoma, biphasic C0334507 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD007095 Clear cell sarcoma, of tendons and aponeuroses C0334509 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 4 BXGD007096 Pleural Solitary Fibrous Tumor C0334511 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 5 BXGD007097 Sarcomatoid Mesothelioma C0334513 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 10 BXGD007098 Mesothelioma, biphasic, malignant C0334515 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 6 BXGD007099 Spermatocytic seminoma C0334517 disease C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD007100 Polyembryoma C0334518 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD007101 Teratoma, Malignant C0334520 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 25 BXGD007102 Mixed Germ Cell Tumor C0334524 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 8 BXGD007103 Struma ovarii, malignant C0334525 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD007104 Hydatidiform Mole, Partial C0334529 O01.1 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 20 BXGD007105 Arteriovenous hemangioma C0334533 I77.0 disease C16;C04;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 76 BXGD007106 Epithelioid hemangioendothelioma, malignant C0334538 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 29 BXGD007107 Chondroblastoma, malignant C0334550 disease Neoplastic Process T191 Neoplastic Process 1 BXGD007108 Myxoid chondrosarcoma C0334551 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD007109 Malignant Giant Cell Tumor of Bone C0334552 disease C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD007110 Giant Cell Tumor of Soft Tissue C0334553 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD007111 Malignant odontogenic tumor C0334558 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD007112 Adenoameloblastoma C0334565 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 19 BXGD007113 Ghost Cell Odontogenic Carcinoma C0334566 disease C04;C05;C07 Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD007114 Malignant Ameloblastoma C0334567 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD007115 Odontogenic myxoma C0334569 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD007116 Ameloblastic fibroma C0334572 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD007117 Calcifying Epithelial Odontogenic Tumor C0334574 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD007118 Gliomatosis cerebri C0334576 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD007119 Papillary ependymoma C0334578 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD007120 Anaplastic astrocytoma C0334579 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 202 BXGD007121 Protoplasmic astrocytoma C0334580 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 29 BXGD007122 Gemistocytic astrocytoma C0334581 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 45 BXGD007123 Fibrillary Astrocytoma C0334582 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 32 BXGD007124 Pilocytic Astrocytoma C0334583 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 163 BXGD007125 Spongioblastoma C0334584 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD007126 Pleomorphic Xanthoastrocytoma C0334586 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 42 BXGD007127 Astroblastoma C0334587 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD007128 Giant Cell Glioblastoma C0334588 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 95 BXGD007129 Anaplastic Oligodendroglioma C0334590 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 66 BXGD007130 Ganglioneuromatosis C0334595 disease C04 Neoplasms Neoplastic Process HP:0025031;HP:0000707 Abnormality of the digestive system; Abnormality of the nervous system T191 Neoplastic Process 12 BXGD007131 Medulloepithelioma C0334596 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD007132 Retinoblastoma, differentiated C0334600 disease C04;C11 Neoplasms; Eye Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD007133 Meningothelial meningioma C0334605 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 15 BXGD007134 Fibrous Meningioma C0334606 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 15 BXGD007135 Psammomatous Meningioma C0334607 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 22 BXGD007136 Angiomatous Meningioma C0334608 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 18 BXGD007137 Hemangioblastic Meningioma C0334609 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 12 BXGD007138 Hemangiopericytic Meningioma C0334610 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 12 BXGD007139 Transitional Meningioma C0334611 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 15 BXGD007140 Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation C0334616 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD007141 Malignant granular cell tumor C0334618 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD007142 HODGKIN'S AND NON-HODGKIN'S LYMPHOMA C0334619 disease Neoplastic Process T191 Neoplastic Process 17 BXGD007143 Malignant lymphoma - lymphoplasmacytic C0334633 C83.0 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 53 BXGD007144 Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse C0334634 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 296 BXGD007145 Malignant lymphoma - centrocytic C0334635 disease Neoplastic Process T191 Neoplastic Process 1 BXGD007146 Malignant lymphoma, mixed small and large cell, diffuse C0334636 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD007147 Malignant lymphomatous polyposis C0334638 C83.1 disease Neoplastic Process T191 Neoplastic Process 2 BXGD007148 Angioendotheliomatosis C0334660 C83.8 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 19 BXGD007149 Histiocytic sarcoma C0334663 C96.A disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 69 BXGD007150 Mast Cell Neoplasm C0334664 D47.09 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 33 BXGD007151 Acute panmyelosis with myelofibrosis C0334674 C94.4 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 8 BXGD007152 Endometrial Stromal Tumors C0334695 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD007153 Malignant myoepithelioma C0334699 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 14 BXGD007154 Gait, Stumbling C0337210 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 4 BXGD007155 Fibrinogen assay C0337428 phenotype Laboratory Procedure T059 Laboratory Procedure 55 BXGD007156 Androstenedione measurement C0337432 phenotype Laboratory Procedure T059 Laboratory Procedure 5 BXGD007157 Estradiol measurement C0337434 phenotype Laboratory Procedure T059 Laboratory Procedure 21 BXGD007158 Glucagon measurement C0337437 phenotype Laboratory Procedure T059 Laboratory Procedure 2 BXGD007159 Glucose measurement C0337438 phenotype Laboratory Procedure T059 Laboratory Procedure 89 BXGD007160 Iron measurement C0337439 phenotype Laboratory Procedure T059 Laboratory Procedure 12 BXGD007161 Sodium measurement C0337443 phenotype Laboratory Procedure T059 Laboratory Procedure 53 BXGD007162 Thyroglobulin measurement C0337445 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD007163 Tyrosine measurement C0337446 phenotype Laboratory Procedure T059 Laboratory Procedure 4 BXGD007164 Moderate drinker C0337677 phenotype Finding T033 Finding 1 BXGD007165 Childhood Cerebral Astrocytoma C0338070 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 28 BXGD007166 Non-Functioning Pituitary Gland Neoplasm C0338078 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 56 BXGD007167 Adenocarcinoma of colon C0338106 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 406 BXGD007168 Uterine Corpus Sarcoma C0338113 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 30 BXGD007169 recurrent childhood brain stem glioma C0338329 disease Neoplastic Process T191 Neoplastic Process 1 BXGD007170 Aseptic peritonitis C0338375 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD007171 Enteroviral encephalitis C0338401 A85.0 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007172 Rocio virus encephalitis C0338404 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007173 Limbic Encephalitis C0338430 G13.1 disease C04;C01;C10 Neoplasms; Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 27 BXGD007174 Neurocysticercosis C0338437 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 34 BXGD007175 Familial Alzheimer's disease of early onset C0338445 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 14 BXGD007176 Frontotemporal dementia C0338451 G31.0 disease C18;C10;F03 Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:630;DOID:7;DOID:150 genetic disease; disease of anatomical entity; disease of mental health T047 Disease or Syndrome 320 BXGD007177 Dementia of frontal lobe type C0338455 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 20 BXGD007178 Aphasia, Progressive C0338457 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 10 BXGD007179 Argyrophilic grain disease C0338460 disease Disease or Syndrome T047 Disease or Syndrome 18 BXGD007180 Semantic Dementia C0338462 disease C18;C10;F03 Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 20 BXGD007181 Tic Disorders, Vocal C0338468 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 2 BXGD007182 Neuroaxonal Dystrophies C0338473 group C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD007183 Central nervous system demyelination C0338474 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 52 BXGD007184 Idiopathic Myoclonic Epilepsy C0338478 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD007185 Symptomatic Myoclonic Epilepsy C0338479 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD007186 Common Migraine C0338480 G43.0 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 77 BXGD007187 Migraine with Prolonged Aura C0338483 G43.1 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD007188 Familial Hemiplegic Migraine C0338484 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 24 BXGD007189 Alternating hemiplegia of childhood C0338488 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD007190 Status Migrainosus C0338489 G43.901 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD007191 Sleep Apnea, Mixed Central and Obstructive C0338495 disease C08;C10 Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 1 BXGD007192 Hypoplasia of the optic nerve C0338502 H47.03 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000707;HP:0000478 Abnormality of the nervous system; Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 59 BXGD007193 Septo-Optic Dysplasia C0338503 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome HP:0000707;HP:0000478 Abnormality of the nervous system; Abnormality of the eye DOID:630 genetic disease T047 Disease or Syndrome 35 BXGD007194 Pit of optic disc C0338504 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD007195 Non-arteritic ischemic optic neuropathy C0338507 disease C11;C10;C14 Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD007196 Optic Atrophy 1 C0338508 disease C16;C18;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 117 BXGD007197 Leprosy neuropathy C0338551 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD007198 Sciatic nerve compression C0338562 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007199 Cerebral venous sinus thrombosis C0338573 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD007200 Sagittal Sinus Thrombosis C0338575 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD007201 Sporadic Cerebral Amyloid Angiopathy C0338582 disease C18;C10;C14 Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD007202 Dissection of carotid artery C0338585 I77.71 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD007203 Vertebral Artery Dissection C0338586 I77.74 disease C10;C14;C26 Nervous System Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 3 BXGD007204 Amnesia, Transient Global C0338591 G45.4 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 16 BXGD007205 Acquired communicating hydrocephalus C0338593 disease C10 Nervous System Diseases Acquired Abnormality DOID:7 disease of anatomical entity T020 Acquired Abnormality 1 BXGD007206 Spastic cerebral palsy C0338596 G80.1 disease C10 Nervous System Diseases Disease or Syndrome; Congenital Abnormality DOID:7 disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 13 BXGD007207 Choroid plexus cyst C0338597 phenotype C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 7 BXGD007208 Psychotic episodes C0338614 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 31 BXGD007209 Senile Paranoid Dementia C0338630 disease C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 8 BXGD007210 Catatonia, Organic C0338650 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD007211 Impaired cognition C0338656 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 1630 BXGD007212 Age-associated memory impairment C0338657 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD007213 Drug-induced depressive state C0338715 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 13 BXGD007214 Opium Dependence C0338777 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD007215 Cycloid psychosis C0338822 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD007216 Manic C0338831 F30.9 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 166 BXGD007217 Psychasthenic neurosis C0338900 F48.8 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD007218 Mixed anxiety and depressive disorder C0338908 F41.8 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 146 BXGD007219 Atypical autism C0338986 F84.9 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD007220 Adolescent - emotional problem C0338999 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD007221 Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type C0339002 F90.0 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 12 BXGD007222 Hyperkinetic conduct disorder C0339004 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD007223 Conduct disorder, childhood-onset type C0339005 F91.1 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD007224 Floppy lid syndrome C0339084 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD007225 Sebaceous adenocarcinoma of eyelid C0339115 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD007226 Thyroid associated opthalmopathies C0339143 disease C16;C11;C20;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 211 BXGD007227 Seasonal allergic conjunctivitis C0339164 disease C11;C20 Eye Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD007228 Perennial allergic conjunctivitis C0339165 disease C11;C20 Eye Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD007229 Ankyloblepharon C0339182 H02.52 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T190 Anatomical Abnormality 18 BXGD007230 Superior limbic keratoconjunctivitis C0339229 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD007231 Pseudophakic corneal edema C0339263 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD007232 Salzmann nodular dystrophy C0339271 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007233 Corneal dystrophy, Lattice type 3 C0339273 disease C16;C18;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD007234 Corneal Dystrophy, Juvenile Epithelial of Meesmann C0339277 H18.52 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T019 Congenital Abnormality 9 BXGD007235 Reis-Bucklers' corneal dystrophy C0339278 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD007236 Pre-descemet's corneal dystrophy C0339282 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD007237 Polymorphous corneal dystrophy C0339284 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 14 BXGD007238 Neurotrophic keratitis C0339296 disease C11;C10;C07 Eye Diseases; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD007239 Corneal graft rejection C0339303 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD007240 Neoplasm of cornea C0339304 disease C04;C11 Neoplasms; Eye Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD007241 Anterior uveitis idiopathic C0339315 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD007242 Non-infectious anterior uveitis C0339317 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007243 Capsular cataract (disorder) C0339352 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 1 BXGD007244 Infantile cataract C0339358 disease C11 Eye Diseases Congenital Abnormality T019 Congenital Abnormality 6 BXGD007245 Choroidal and/or chorioretinal disorder C0339383 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD007246 Birdshot chorioretinitis C0339402 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD007247 Presumed ocular histoplasmosis syndrome C0339403 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD007248 Proliferative retinopathy C0339467 disease C11;C19;C14 Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 57 BXGD007249 Visually threatening diabetic retinopathy C0339470 disease C11;C19;C14 Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD007250 Maculopathy with diabetes mellitus C0339471 disease C11;C19;C14 Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD007251 Lipidemia retinalis C0339477 disease C11 Eye Diseases Disease or Syndrome HP:0000478;HP:0001626 Abnormality of the eye; Abnormality of the cardiovascular system T047 Disease or Syndrome 4 BXGD007252 Parafoveal telangiectasia C0339480 disease Disease or Syndrome HP:0001574;HP:0000478;HP:0001626 Abnormality of the integument; Abnormality of the eye; Abnormality of the cardiovascular system T047 Disease or Syndrome 4 BXGD007253 Sickle cell retinopathy C0339491 disease C16;C11;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007254 Central retinal vein occlusion - juvenile C0339499 disease Acquired Abnormality T020 Acquired Abnormality 2 BXGD007255 Venous retinal branch occlusion C0339505 disease C11;C14 Eye Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 25 BXGD007256 Hereditary macular dystrophy C0339508 disease Congenital Abnormality T019 Congenital Abnormality 39 BXGD007257 Vitelliform Macular Dystrophy C0339510 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 74 BXGD007258 Autosomal dominant retinitis pigmentosa C0339525 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality T019 Congenital Abnormality 85 BXGD007259 Autosomal recessive retinitis pigmentosa C0339526 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality T019 Congenital Abnormality 82 BXGD007260 Leber Congenital Amaurosis C0339527 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 83 BXGD007261 X-linked retinitis pigmentosa C0339528 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality T019 Congenital Abnormality 29 BXGD007262 Usher syndrome type 2 C0339534 disease C23;C16;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 8 BXGD007263 Night blindness, congenital stationary C0339535 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T019 Congenital Abnormality 32 BXGD007264 Cone monochromatism C0339537 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 16 BXGD007265 Familial Exudative Vitreoretinopathy C0339539 disease Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 19 BXGD007266 Goldmann-Favre syndrome (disorder) C0339541 disease C23;C16;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD007267 Epiretinal Membrane C0339543 disease C11 Eye Diseases Acquired Abnormality HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T020 Acquired Abnormality 102 BXGD007268 Retinal Pigment Epithelial Detachment C0339546 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD007269 Congenital hypertrophy of retinal pigment epithelium C0339555 disease Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 5 BXGD007270 Amyloid of vitreous C0339562 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD007271 Glaucoma, Primary Open Angle C0339573 H40.11 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 383 BXGD007272 Glaucoma due to combination of mechanisms C0339576 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007273 Corticosteroid-induced glaucoma C0339578 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD007274 Congenital esotropia C0339619 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007275 Secondary Esotropia C0339624 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 1 BXGD007276 Horizontal gaze palsy C0339651 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007277 Vertical gaze palsy C0339652 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 2 BXGD007278 Regular astigmatism - corneal C0339682 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 34 BXGD007279 Internal Ophthalmoplegia C0339693 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 5 BXGD007280 Congenital color blindness C0339697 disease C23;C16;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD007281 Blindness, Acquired C0339730 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD007282 Congenital deafness C0339789 H90.5 disease C23;C16;C13;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality HP:0000598 Abnormality of the ear DOID:7 disease of anatomical entity T019 Congenital Abnormality 72 BXGD007283 House dust mite allergy C0339808 phenotype C23;C01;C20 Pathological Conditions, Signs and Symptoms; Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD007284 Anterior epistaxis C0339815 phenotype C23;C08;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007285 Concha bullosa C0339821 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD007286 Nasal vestibulitis C0339825 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007287 Bifid epiglottis C0339864 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality HP:0002086 Abnormality of the respiratory system T019 Congenital Abnormality 8 BXGD007288 Laryngeal amyloidosis C0339882 disease C08;C09 Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007289 Acute respiratory infections C0339901 group C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 35 BXGD007290 Viral upper respiratory tract infection C0339916 group C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007291 Acute viral bronchiolitis C0339941 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD007292 Secondary bacterial pneumonia C0339952 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD007293 Fungal pneumonia C0339961 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD007294 Pulmonary mucormycosis C0339962 B46.0 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD007295 Neonatal pneumonia C0339968 disease C16;C01;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD007296 Idiopathic bronchiectasis C0339985 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 21 BXGD007297 Chylothorax, congenital C0340014 disease C08 Respiratory Tract Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 5 BXGD007298 Pleural plaque C0340030 J92 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD007299 Young Syndrome C0340037 disease C01;C12;C08 Infections; Male Urogenital Diseases; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007300 Acute exacerbation of chronic obstructive airways disease C0340044 J44.1 phenotype C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 63 BXGD007301 Postoperative atelectasis C0340074 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007302 Asthmatic pulmonary eosinophilia C0340076 J82.83 disease C08;C15 Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 62 BXGD007303 Neurogenic pulmonary edema C0340098 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007304 High altitude pulmonary edema C0340100 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 56 BXGD007305 Lofgrens syndrome C0340164 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 30 BXGD007306 Simple pneumoconiosis C0340169 disease C08;C24 Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007307 Complicated pneumoconiosis C0340170 disease C08;C24 Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD007308 Respiratory failure without hypercapnia C0340194 disease C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD007309 Tracheobronchomalacia C0340231 disease C16;C17;C05;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system T047 Disease or Syndrome 6 BXGD007310 Bronchobiliary fistula C0340235 phenotype C23;C06;C08 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD007311 Infectious disorder of bronchus C0340238 group C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007312 Sepsis-associated lung injury C0340256 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD007313 Atrial hypertrophy C0340278 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD007314 Ventricular hypertrophy C0340279 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 60 BXGD007315 Triple vessel disease of the heart C0340285 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007316 Stable angina C0340288 I20.8 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 144 BXGD007317 Silent myocardial ischemia C0340291 I25.6 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD007318 Anterior myocardial infarction C0340293 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 47 BXGD007319 Inferior Wall Myocardial Infarction C0340305 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD007320 Posterior myocardial infarction C0340319 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD007321 Silent myocardial infarction C0340324 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD007322 Q fever endocarditis C0340354 disease C01;C14 Infections; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD007323 Prosthetic valve endocarditis C0340359 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD007324 Familial mitral valve prolapse C0340364 disease C14 Cardiovascular Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 10 BXGD007325 Functional mitral regurgitation C0340369 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD007326 Subaortic stenosis C0340375 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 19 BXGD007327 Cardiac glycogenosis C0340420 E74.02 disease Congenital Abnormality DOID:0014667;DOID:630 disease of metabolism; genetic disease T019 Congenital Abnormality 3 BXGD007328 Hypertrophic cardiomyopathy without obstruction C0340425 I42.2 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD007329 Familial dilated cardiomyopathy C0340427 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 83 BXGD007330 Familial restrictive cardiomyopathy (disorder) C0340429 disease C14 Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD007331 Dystrophic cardiomyopathy C0340434 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD007332 Premature Cardiac Complex C0340464 I49.49 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD007333 Re-entrant atrioventricular tachycardia C0340477 disease Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 2 BXGD007334 Familial ventricular tachycardia C0340485 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD007335 Induced ventricular tachycardia C0340486 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD007336 Lone atrial fibrillation C0340489 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 25 BXGD007337 Familial sick sinus syndrome C0340491 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD007338 Paroxysmal familial ventricular fibrillation C0340493 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD007339 Atrial thrombosis C0340517 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD007340 Athlete's heart C0340520 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD007341 Acute massive pulmonary embolism C0340535 disease C08;C14 Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007342 Pulmonary fat embolism C0340537 disease C08;C14 Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system T047 Disease or Syndrome 6 BXGD007343 Sporadic primary pulmonary hypertension C0340542 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD007344 Familial primary pulmonary hypertension C0340543 I27.0 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 30 BXGD007345 Pulmonary arterial hypertension induced by drug C0340544 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD007346 Pulmonary capillary hemangiomatosis C0340548 disease C04;C14 Neoplasms; Cardiovascular Diseases Disease or Syndrome HP:0002664;HP:0002086;HP:0001626 Neoplasm; Abnormality of the respiratory system; Abnormality of the cardiovascular system T047 Disease or Syndrome 5 BXGD007347 High altitude pulmonary hypertension C0340552 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD007348 Atherosclerotic renal artery stenosis C0340557 disease C13;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD007349 Arterial ischemia C0340561 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 1 BXGD007350 Lower limb ischemia C0340565 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 15 BXGD007351 Critical lower limb ischemia C0340566 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD007352 Internal Carotid Artery Stenosis C0340569 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD007353 Arterial aneurysm C0340613 disease C14 Cardiovascular Diseases Anatomical Abnormality T190 Anatomical Abnormality 10 BXGD007354 Aortic aneurysm without mention of rupture NOS C0340629 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 100 BXGD007355 Aortic Aneurysm, Thoracoabdominal C0340630 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD007356 Carotid artery aneurysm C0340639 I72.0 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 1 BXGD007357 Dissection of aorta C0340643 I71.00 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 152 BXGD007358 Distal aortic dissection C0340647 disease Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 9 BXGD007359 Dissection of iliac artery C0340649 I77.72 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007360 Superior mesenteric vein thrombosis C0340704 disease C06;C14 Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007361 Deep vein thrombosis of lower limb C0340708 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007362 Stenosis, Pulmonary Vein C0340756 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007363 Inferior vena cava stenosis C0340757 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD007364 Venous hypertension C0340766 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD007365 Hyperplastic lymph node C0340782 disease Acquired Abnormality T020 Acquired Abnormality 12 BXGD007366 Capillary malformation (disorder) C0340803 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T019 Congenital Abnormality 40 BXGD007367 Hereditary vascular fragility C0340804 D69.8 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD007368 Capillary-venous malformation C0340828 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD007369 Hennekam lymphangiectasia-lymphedema syndrome C0340834 disease C16;C05;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD007370 PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE C0340848 disease C04;C08 Neoplasms; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007371 Neurally mediated syncope C0340850 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007372 Vascular graft infection C0340896 disease C23;C01;C14 Pathological Conditions, Signs and Symptoms; Infections; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD007373 Arteriovenous fistula stenosis C0340908 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD007374 Arteriovenous fistula thrombosis C0340909 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD007375 Secondary anemia NOS C0340952 phenotype C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD007376 Congenital deficiency of intrinsic factor C0340957 D51.0 disease C16;C18;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Congenital Abnormality DOID:0014667 disease of metabolism T019 Congenital Abnormality 1 BXGD007377 Deficiency of pyruvate kinase C0340968 disease C16;C18;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 10 BXGD007378 Uridine monophosphate hydrolase deficiency C0340969 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007379 Congenital neutropenia C0340970 D70.0 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Congenital Abnormality T019 Congenital Abnormality 68 BXGD007380 Autoimmune neutropenia C0340971 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 8 BXGD007381 May-Hegglin anomaly C0340978 D72.0 phenotype C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 12 BXGD007382 Cryoglobulinemic vasculitis C0340992 D89.1 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD007383 Temporomandibular joint internal derangement C0341035 phenotype C05;C07 Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality T190 Anatomical Abnormality 3 BXGD007384 Lateral developmental cyst of jaw C0341037 K09.0 disease C16;C06;C04;C05;C08;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD007385 Jaw Keratocyst C0341038 disease C04;C05;C07 Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 51 BXGD007386 Hypertrophy of parotid gland C0341047 disease C23;C06;C07 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 7 BXGD007387 Chronic sialadenitis C0341052 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD007388 Lip pit C0341059 disease Anatomical Abnormality HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T190 Anatomical Abnormality 14 BXGD007389 Eosinophilic esophagitis C0341106 K20.0 disease C06;C20;C15 Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 183 BXGD007390 Esophageal erosions C0341117 K22.1 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007391 Esophageal atresia with tracheoesophageal fistula (disorder) C0341154 Q39.1 disease C23;C16;C06;C08 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007392 Reactive gastritis C0341189 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007393 Gastroduodenal intussusception C0341215 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007394 Dieulafoy's vascular malformation C0341217 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007395 Chronic duodenitis C0341248 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007396 Disorder of small intestine C0341268 group C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007397 Acute radiation enteritis C0341274 disease C06;C26 Digestive System Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 1 BXGD007398 Ulcerative jejunitis C0341281 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD007399 Collagenous Sprue C0341299 disease C06;C18 Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD007400 Autoimmune enteropathy C0341305 disease C20;C19 Immune System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD007401 Microvillus inclusion disease C0341306 disease C16;C06;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 19 BXGD007402 Enterocutaneous Fistula C0341318 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality T190 Anatomical Abnormality 8 BXGD007403 Indeterminate colitis C0341332 K52.3 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD007404 Cytomegaloviral colitis C0341335 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 5 BXGD007405 Acute suppurative appendicitis C0341352 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD007406 Perianal Crohn's disease C0341395 disease C06;C17 Digestive System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD007407 Small intestinal infarction C0341426 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD007408 Chronic liver disease C0341439 group C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 196 BXGD007409 Alcohol-induced chronic pancreatitis C0341470 K86.0 disease C06;C25 Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 2 BXGD007410 Idiopathic chronic pancreatitis C0341471 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD007411 Obstructive chronic pancreatitis C0341472 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007412 Cystadenoma of pancreas C0341486 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD007413 Bacterial peritonitis C0341503 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 5 BXGD007414 Parastomal hernia C0341539 K43.5 phenotype C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality T020 Acquired Abnormality 5 BXGD007415 Peristomal abscess C0341599 phenotype C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD007416 Atrophy of kidney C0341698 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 6 BXGD007417 Granulomatous interstitial nephritis C0341699 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD007418 Acquired Fanconi syndrome C0341702 disease C16;C04;C18;C13;C17;C12;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007419 Adult Fanconi syndrome C0341703 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 32 BXGD007420 Acute retention of urine C0341742 phenotype C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom T184 Sign or Symptom 6 BXGD007421 Detrusor and sphincter dyssynergia C0341747 disease Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD007422 Bifid scrotum C0341787 disease Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 30 BXGD007423 Neoplasm of scrotum C0341790 disease C04;C17;C12 Neoplasms; Skin and Connective Tissue Diseases; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD007424 Epithelial tumor of ovary C0341823 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD007425 Endometriosis of uterus C0341858 N80.0 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 154 BXGD007426 Hypothalamic amenorrhea C0341862 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD007427 Subfertility, Female C0341869 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 33 BXGD007428 Pre-eclampsia added to pre-existing hypertension C0341931 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 2 BXGD007429 Transient hypertension of pregnancy C0341934 O13 phenotype C13;C14 Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Pathologic Function T046 Pathologic Function 2 BXGD007430 Diffuse goiter C0342114 E04.0 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD007431 Toxic diffuse goiter C0342122 E05.0 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD007432 Toxic nodular goiter C0342127 E05.2 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD007433 Autonomous thyroid function C0342136 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007434 Thyrotoxicosis in pregnancy C0342138 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD007435 Hyperthyroidism secondary to amiodarone C0342143 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD007436 Congenital thyroid hypoplasia C0342153 disease C16;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality T019 Congenital Abnormality 4 BXGD007437 Hypothyroidism, Autoimmune C0342158 disease C20;C19 Immune System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD007438 Compensated hypothyroidism C0342162 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 7 BXGD007439 Hyperthyroxinemia, Familial Dysalbuminemic C0342185 disease C16;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD007440 C-cell hyperplasia of thyroid C0342190 E07.0 disease C23;C19 Pathological Conditions, Signs and Symptoms; Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 35 BXGD007441 Familial dyshormonogenetic goiter C0342191 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD007442 Thyrotoxicosis due to pituitary thyroid hormone resistance C0342198 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T047 Disease or Syndrome 4 BXGD007443 Iodine deficiency syndrome C0342199 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 22 BXGD007444 Endemic Cretinism C0342200 E00.1 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 26 BXGD007445 Multinodular goiter C0342208 disease C04;C19 Neoplasms; Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 51 BXGD007446 Eye disorder due to diabetes mellitus C0342245 disease C18;C11;C19 Nutritional and Metabolic Diseases; Eye Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD007447 Complications of Diabetes Mellitus C0342257 group C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 240 BXGD007448 Transient neonatal diabetes mellitus C0342273 disease Disease or Syndrome HP:0001939;HP:0000818 Abnormality of metabolism/homeostasis; Abnormality of the endocrine system T047 Disease or Syndrome 23 BXGD007449 Maturity onset diabetes mellitus in young C0342276 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome HP:0001939;HP:0000818 Abnormality of metabolism/homeostasis; Abnormality of the endocrine system DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 105 BXGD007450 Diabetes mellitus autosomal dominant type II (disorder) C0342277 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 8 BXGD007451 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans C0342278 disease C18;C17;C19 Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007452 Multiple synostoses syndrome 1 C0342282 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD007453 Hyperproinsulinemia C0342283 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD007454 Woodhouse Sakati syndrome C0342286 disease C23;C18;C17;C10;C19;F03;F01;C14 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD007455 Thiamine responsive megaloblastic anemia syndrome C0342287 disease C23;C18;C10;C19;C09;C15 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Congenital Abnormality DOID:630 genetic disease T019 Congenital Abnormality 3 BXGD007456 Insulin-dependent diabetes mellitus secretory diarrhea syndrome C0342288 disease C23;C16;C18;C20;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 16 BXGD007457 Diabetes-deafness syndrome maternally transmitted (disorder) C0342289 disease C23;C18;C10;C19;C09 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD007458 Brittle diabetes C0342302 disease C18;C20;C19 Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 44 BXGD007459 Neuroglycopenia C0342311 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD007460 Loss of hypoglycemic warning C0342317 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD007461 insulin resistance in diabetes C0342335 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 21 BXGD007462 Insulin resistance - type A C0342336 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD007463 Insulin resistance - type B C0342337 disease C18;C20;C19 Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007464 Post-surgical hypoparathyroidism C0342341 disease C23;C19 Pathological Conditions, Signs and Symptoms; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007465 Idiopathic Hypoparathyroidism C0342342 E20.0 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD007466 Hypoparathyroidism - autosomal dominant C0342345 disease C23;C18;C19 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD007467 Pseudohypoparathyroidism and pseudopseudohypoparathyroidism C0342346 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007468 Drug-induced hyperprolactinemia C0342358 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD007469 Idiopathic growth hormone deficiency C0342381 E23.0 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 10 BXGD007470 Idiopathic hypogonadotropic hypogonadism C0342384 disease C19 Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 82 BXGD007471 Follicle stimulating hormone deficiency C0342386 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 11 BXGD007472 LH - luteinizing hormone deficiency C0342387 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007473 Adrenocorticotropic hormone (ACTH) deficiency (disorder) C0342388 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 24 BXGD007474 Idiopathic hypopituitarism C0342396 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD007475 Post-traumatic hypopituitarism C0342400 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007476 Hypophysitis C0342409 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD007477 Autoimmune Hypophysitis C0342410 disease C20;C10;C19 Immune System Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD007478 Hypothalamic hamartomas C0342418 disease C04;C10 Neoplasms; Nervous System Diseases Congenital Abnormality HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm T019 Congenital Abnormality 29 BXGD007479 Pituitary gland enlarged C0342422 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Anatomical Abnormality HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T190 Anatomical Abnormality 8 BXGD007480 ACTH-dependent Cushing's syndrome C0342442 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD007481 Adrenal Cushing's syndrome C0342443 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 120 BXGD007482 Salt-losing congenital adrenal hyperplasia C0342464 E25.0 disease C16;C18;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD007483 Late onset congenital adrenal hyperplasia C0342467 disease C16;C18;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD007484 3 beta-Hydroxysteroid dehydrogenase deficiency C0342471 disease C16;C18;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 9 BXGD007485 Lipoid congenital adrenal hyperplasia C0342474 disease C16;C18;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD007486 X-linked Adrenal Hypoplasia C0342482 disease C19 Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 57 BXGD007487 Hyperreninemic hypoaldosteronism C0342483 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007488 Mineralocorticoid Excess Syndrome, Apparent C0342488 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 8 BXGD007489 Adrenocortical hyperplasia C0342494 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 25 BXGD007490 Macronodular adrenal hyperplasia C0342495 phenotype C16;C18;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 15 BXGD007491 Micronodular adrenal hyperplasia C0342496 disease C16;C18;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007492 Adrenal mass C0342500 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD007493 Ovarian dysgenesis C0342510 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality T019 Congenital Abnormality 6 BXGD007494 Idiopathic hirsutism C0342513 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD007495 Absent testes C0342526 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 24 BXGD007496 Deficiency of testosterone biosynthesis C0342527 E29.1 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 18 BXGD007497 Incomplete testicular feminization syndrome C0342530 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007498 Constitutional delay of growth and puberty C0342538 disease Disease or Syndrome T047 Disease or Syndrome 16 BXGD007499 Precocious pubarche C0342541 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 30 BXGD007500 Central Precocious Puberty C0342543 E22.8 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 32 BXGD007501 Idiopathic central precocious puberty C0342544 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD007502 Premature adrenarche C0342546 E27.0 disease Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 18 BXGD007503 Early menarche C0342548 E30.1 phenotype C23 Pathological Conditions, Signs and Symptoms Finding DOID:7 disease of anatomical entity T033 Finding 1 BXGD007504 Familial Testotoxicosis C0342549 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD007505 Autoimmune endocrine disease C0342552 disease C20;C19 Immune System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007506 Juvenile Graves' disease C0342553 disease C11;C20;C19 Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD007507 Carcinoid crisis C0342569 disease C04 Neoplasms Disease or Syndrome T047 Disease or Syndrome 2 BXGD007508 PITUITARY DWARFISM I C0342573 disease C05;C10;C19 Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 25 BXGD007509 Amyloid Polyneuropathy, British Type (disorder) C0342608 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD007510 Hereditary oculoleptomeningeal amyloid angiopathy C0342609 disease C16;C18;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007511 Hereditary cerebrovascular amyloidosis C0342610 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD007512 Familial non-neuropathic amyloidosis C0342611 E85.0 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD007513 Danish type familial amyloid cardiomyopathy C0342613 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD007514 Senile systemic amyloidosis C0342623 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD007515 Neonatal hypocalcemia C0342634 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD007516 Hungry bone syndrome C0342635 E83.81 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007517 Hypocalciuric hypercalcemia, familial, type 1 C0342637 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 46 BXGD007518 Familial idiopathic hypercalciuria C0342639 disease C23 Pathological Conditions, Signs and Symptoms Congenital Abnormality T019 Congenital Abnormality 2 BXGD007519 Autosomal dominant hypophosphatemic rickets C0342642 disease C16;C18;C13;C05;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 11 BXGD007520 Autosomal recessive hypophosphatemic vitamin D refractory rickets C0342643 disease C16;C18;C13;C05;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 11 BXGD007521 Vitamin D-Dependent Rickets, Type 2A C0342646 disease C16;C18;C13;C05;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD007522 Vascular calcification C0342649 phenotype C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0000924;HP:0001626 Abnormality of the skeletal system; Abnormality of the cardiovascular system T047 Disease or Syndrome 257 BXGD007523 Periarticular calcification C0342650 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 1 BXGD007524 ALBINISM, OCULOCUTANEOUS, TYPE III C0342683 disease C16;C18;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD007525 Ocular albinism, type I C0342684 E70.310 disease C16;C18;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 38 BXGD007526 Aromatic amino acid decarboxylase deficiency C0342686 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD007527 dopamine beta hydroxylase deficiency C0342687 disease C10 Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD007528 Transcobalamin I Deficiency C0342700 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007529 Transcobalamin II deficiency C0342701 D51.2 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD007530 Deficiency of Cobalamin G C0342704 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD007531 Folate Malabsorption, Hereditary C0342705 disease C06;C18 Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD007532 Gamma aminobutyric acid transaminase deficiency C0342708 E72.81 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD007533 Adenosylcobalamin synthesis defect C0342720 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007534 3-@METHYLGLUTACONIC ACIDURIA, TYPE I C0342727 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD007535 Deficiency of mevalonate kinase C0342731 M04.1 disease C16;C18;C20;C10;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 20 BXGD007536 Cytosolic acetoacetyl-CoA thiolase deficiency C0342735 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007537 Beta-Hydroxyisobutyryl CoA Deacylase Deficiency C0342738 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007538 Trimethylaminuria C0342739 E72.52 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD007539 Disorder of galactose metabolism C0342745 E74.20 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD007540 GLYCOGEN STORAGE DISEASE Ic C0342749 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD007541 Glycogen storage disease type Id C0342750 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD007542 Generalized glycogen storage disease of infants C0342751 E74.02 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 51 BXGD007543 Glycogen storage disease due to acid maltase deficiency, late-onset C0342753 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD007544 Primary lactose intolerance C0342759 disease C16;C06;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007545 Fumarase deficiency C0342770 disease C23;C16;C18;C10;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD007546 Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency C0342776 disease Disease or Syndrome T047 Disease or Syndrome 51 BXGD007547 Succinate-coenzyme Q reductase deficiency C0342777 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD007548 Ubiquinone dehydrogenase deficiency C0342778 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD007549 Depletion of mitochondrial DNA C0342782 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 36 BXGD007550 Deficiency of butyryl-CoA dehydrogenase C0342783 E71.312 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 21 BXGD007551 Pearson's marrow-pancreas syndrome C0342784 disease C23;C16;C15 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD007552 Renal carnitine transport defect C0342788 E71.41 disease C23;C05;C10;C14 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 59 BXGD007553 Carnitine palmitoyl transferase 2 deficiency C0342790 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 11 BXGD007554 Carnitine-Acylcarnitine Translocase Deficiency C0342791 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD007555 Succinyl-CoA:3-oxoacid CoA transferase deficiency C0342792 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007556 Malonic aciduria C0342793 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD007557 Inosine Triphosphatase Deficiency C0342800 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007558 Thiopurine S methyltranferase deficiency C0342801 disease C16;C18;C20;C25 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD007559 Dihydropyrimidinase deficiency C0342803 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007560 Hunter's syndrome, severe form C0342841 disease C16;C18;C17;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007561 Hunter's syndrome, mild form C0342842 disease C16;C18;C17;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007562 Disorder of glycoprotein metabolism C0342844 E77.9 group C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007563 Sialuria C0342853 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 11 BXGD007564 Coproporphyria C0342856 disease C16;C06;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007565 Homozygous acute intermittent porphyria C0342858 disease C16;C06;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007566 Harderoporphyria C0342859 disease C16;C06;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD007567 Homozygous variegate porphyria C0342860 disease C16;C06;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007568 Deficiency of acetyl-CoA acyltransferase (disorder) C0342869 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007569 Glutaric Aciduria III C0342873 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007570 Primary hypercholesterolemia C0342879 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD007571 Polygenic hypercholesterolemia C0342880 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD007572 Familial hypercholesterolemia - homozygous C0342881 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 23 BXGD007573 Familial hypercholesterolemia - heterozygous C0342882 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 42 BXGD007574 Cholesteryl Ester Transfer Protein Deficiency C0342883 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 22 BXGD007575 Secondary hypercholesterolemia C0342885 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD007576 Primary hypertriglyceridemia C0342886 disease C18 Nutritional and Metabolic Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD007577 Secondary hypertriglyceridemia C0342889 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007578 Primary combined hyperlipidemia C0342890 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD007579 Fish-Eye Disease C0342895 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD007580 Apolipoprotein A-I deficiency C0342898 phenotype C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Pathologic Function T046 Pathologic Function 2 BXGD007581 Sitosterolemia C0342907 disease C16;C06;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 11 BXGD007582 Android obesity C0342940 disease C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007583 Generalized obesity C0342942 disease C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD007584 Hypervitaminosis C0342951 phenotype Disease or Syndrome T047 Disease or Syndrome 4 BXGD007585 Organ dysfunction syndrome C0342953 disease Disease or Syndrome T047 Disease or Syndrome 17 BXGD007586 Postoperative septic shock C0342957 phenotype C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD007587 Sepsis-associated organ dysfunction C0342959 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD007588 Impaired oxygen delivery C0342968 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD007589 Increased oxygen demand C0342970 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD007590 Tuberculid C0343029 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD007591 Complement component 5 deficiency C0343047 L21.1 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD007592 Guttate psoriasis C0343052 L40.4 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD007593 Generalized pustular psoriasis C0343055 L40.1 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 43 BXGD007594 Keratosis pilaris decalvans C0343057 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD007595 Dermatographic urticaria C0343065 L50.3 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD007596 Familial cold urticaria C0343068 M04.2 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 20 BXGD007597 Wooly hair C0343073 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 19 BXGD007598 Milia, Multiple Eruptive C0343079 disease C17 Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD007599 Senile angioma C0343082 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD007600 Capillary Leak Syndrome C0343084 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD007601 Nodular Elastoidosis C0343097 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007602 Epidermolytic palmoplantar keratoderma of Vorner C0343110 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 3 BXGD007603 Naegeli syndrome C0343111 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD007604 Woolly hair nevus C0343114 disease Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 1 BXGD007605 Skin Mastocytoma C0343115 D47.01 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 1 BXGD007606 Contracture of joint of foot C0343149 disease C17;C05 Skin and Connective Tissue Diseases; Musculoskeletal Diseases Anatomical Abnormality HP:0040064;HP:0000924;HP:0003549;HP:0003011 Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T190 Anatomical Abnormality 9 BXGD007607 Primary systemic vasculitis C0343187 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD007608 Cutaneous polyarteritis nodosa C0343190 disease C17;C14 Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007609 Hypocomplementemic urticarial vasculitis C0343206 M31.8 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD007610 Essential mixed cryoglobulinemia C0343208 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007611 Benign congenital hypotonia C0343239 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD007612 Chondrolysis of articular cartilage C0343263 M94.3 disease C17;C05 Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007613 Chondrodysplasia C0343284 disease C23;C16;C05 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 71 BXGD007614 Thoracic discitis C0343287 disease C01;C05;C08 Infections; Musculoskeletal Diseases; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007615 Infantile gastroenteritis C0343349 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007616 Viral gastroenteritis due to Rotavirus C0343363 A08.0 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 7 BXGD007617 Helicobacter-associated gastritis C0343378 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 30 BXGD007618 Enteropathogenic Escherichia coli gastrointestinal tract infection C0343380 A04.0 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD007619 Verotoxigenic Escherichia coli gastrointestinal tract infection C0343381 A04.3 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD007620 Clostridium difficile infection C0343386 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 57 BXGD007621 Enterocolitis, Neutropenic C0343387 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007622 Intestinal microsporidiosis C0343400 A07.8 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 1 BXGD007623 MRSA - Methicillin resistant Staphylococcus aureus infection C0343401 A49.02 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 222 BXGD007624 Pulmonary melioidosis C0343440 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007625 Borderline tuberculoid leprosy C0343457 A30.2 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD007626 Borderline lepromatous leprosy C0343458 A30.4 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 7 BXGD007627 Leprosy reversal reaction C0343461 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD007628 Type 2 lepra reaction C0343466 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 23 BXGD007629 Erythema nodosum leprosum C0343467 phenotype C23;C01;C17;C20;C25;C14 Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 23 BXGD007630 Lockjaw C0343495 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding DOID:0050117 disease by infectious agent T033 Finding 1 BXGD007631 Lemierre Syndrome C0343525 disease C01;C07;C09;C14 Infections; Stomatognathic Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007632 Pontiac Fever C0343528 A48.2 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007633 Streptococcal toxic shock syndrome C0343532 phenotype C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 16 BXGD007634 Congenital Varicella Syndrome C0343560 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD007635 African Burkitt's lymphoma C0343640 disease C04;C01;C20;C15 Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 36 BXGD007636 Human papilloma virus infection C0343641 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 429 BXGD007637 Facial wart C0343643 disease C04;C01;C17 Neoplasms; Infections; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002664;HP:0000152 Abnormality of the integument; Neoplasm; Abnormality of head or neck T047 Disease or Syndrome 2 BXGD007638 Gonococcal arthritis dermatitis syndrome C0343713 disease C01;C17;C05 Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007639 Neonatal chlamydial conjunctivitis C0343723 P39.1 disease C01;C11 Infections; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 38 BXGD007640 Penile warts C0343731 phenotype C04;C01;C17;C12 Neoplasms; Infections; Skin and Connective Tissue Diseases; Male Urogenital Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD007641 Asymptomatic human immunodeficiency virus infection C0343751 disease C01;C20 Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 26 BXGD007642 Acute HIV infection C0343752 disease C01;C20 Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 48 BXGD007643 HIV Wasting Syndrome C0343755 disease C18;C01;C20 Nutritional and Metabolic Diseases; Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD007644 Neuropathy due to human immunodeficiency virus C0343757 disease C01;C20;C10 Infections; Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD007645 Typhus group rickettsial disease C0343758 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 8 BXGD007646 Human Ehrlichiosis C0343771 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD007647 Acute Chagas' disease C0343800 B57.1 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 5 BXGD007648 Chronic Chagas' disease C0343804 B57.2 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 52 BXGD007649 Herpetosoma Infection C0343806 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD007650 Systemic aspergillosis C0343856 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD007651 Chronic Necrotizing Pulmonary Aspergillosis C0343858 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007652 Candida infection of genital region C0343863 group C13;C01 Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD007653 Systemic cryptococcosis C0343890 B45.7 phenotype C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD007654 Histoplasmosis disseminated C0343900 B39.3 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD007655 Hepatosplenic schistosomiasis C0343968 disease C06;C01;C15 Digestive System Diseases; Infections; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD007656 Schistosomal splenomegaly C0343972 phenotype C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD007657 Exercise anaphylaxis C0344183 disease C20 Immune System Diseases Disease or Syndrome HP:0002715 Abnormality of the immune system T047 Disease or Syndrome 1 BXGD007658 Cerebellar decompression injury C0344191 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD007659 Blurred vision C0344232 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 28 BXGD007660 See-Saw Nystagmus C0344243 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 2 BXGD007661 Anterior lenticonus C0344262 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 3 BXGD007662 Vitreoretinal degeneration C0344290 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 20 BXGD007663 Temporal pallor of optic disc C0344299 H47.29 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 5 BXGD007664 Absence of pain sensation C0344307 phenotype C23;F03 Pathological Conditions, Signs and Symptoms; Mental Disorders Finding HP:0000707 Abnormality of the nervous system T033 Finding 14 BXGD007665 White forelock C0344312 L67.1 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 12 BXGD007666 Depressed mood C0344315 phenotype F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1461 BXGD007667 Schistocytosis C0344386 phenotype Laboratory or Test Result HP:0001871 Abnormality of blood and blood-forming tissues T034 Laboratory or Test Result 5 BXGD007668 Bilirubin measurement C0344395 phenotype Laboratory Procedure T059 Laboratory Procedure 56 BXGD007669 Ventricular Arrhythmia by ECG Finding C0344424 phenotype Laboratory or Test Result T034 Laboratory or Test Result 17 BXGD007670 Ventricular tachycardia, polymorphic C0344432 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 11 BXGD007671 Microprolactinoma C0344452 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 3 BXGD007672 Macroprolactinoma C0344453 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 9 BXGD007673 Malignant mixed salivary gland tumor C0344459 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 4 BXGD007674 Carcinoma ex pleomorphic adenoma C0344460 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 30 BXGD007675 Oligodendroblastoma C0344461 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 7 BXGD007676 Chronic lymphoproliferative disease NOS C0344462 disease Neoplastic Process T191 Neoplastic Process 3 BXGD007677 Spinal Cord Myelodysplasia C0344479 Q06.1 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 28 BXGD007678 Hypoplasia of corpus callosum C0344482 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 385 BXGD007679 Lateral meningocele C0344487 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Anatomical Abnormality DOID:630 genetic disease T190 Anatomical Abnormality 1 BXGD007680 Sacral agenesis C0344490 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 15 BXGD007681 Alacrima C0344505 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 16 BXGD007682 Atresia of nasolacrimal duct C0344511 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 5 BXGD007683 Coloboma of lens C0344516 Q12.2 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 5 BXGD007684 Congenital posterior polar cataract C0344522 disease Congenital Abnormality T019 Congenital Abnormality 3 BXGD007685 Cataract, congenital, cerulean type 1 C0344523 disease C11 Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 6 BXGD007686 Congenital membranous cataract C0344525 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD007687 Cornea plana C0344529 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 22 BXGD007688 Congenital keratoglobus C0344530 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 46 BXGD007689 Congenital corneal opacity C0344535 Q13.3 disease C11 Eye Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD007690 Hypoplasia of iris C0344539 disease C11 Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 19 BXGD007691 Persistent pupillary membranes C0344541 disease C23;C16;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 4 BXGD007692 Aniridia type 1 C0344542 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality T019 Congenital Abnormality 4 BXGD007693 Aniridia type 2 C0344543 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD007694 Congenital retinal fold C0344550 disease Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 3 BXGD007695 Irido-corneo-trabecular dysgenesis (disorder) C0344559 Q13.4 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 35 BXGD007696 Congenitally corrected transposition of the great arteries C0344616 disease Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 1 BXGD007697 Double inlet left ventricle C0344622 disease Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 4 BXGD007698 Patent Ductus Venosus C0344688 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 1 BXGD007699 Isomerism of atrial appendages C0344692 Q20.6 disease Congenital Abnormality DOID:630;DOID:0080015 genetic disease; physical disorder T019 Congenital Abnormality 3 BXGD007700 Left atrial dilatation C0344720 disease Congenital Abnormality T019 Congenital Abnormality 8 BXGD007701 Ostium secundum atrial septal defect C0344724 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T019 Congenital Abnormality 37 BXGD007702 Partial atrioventricular canal C0344735 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T019 Congenital Abnormality 9 BXGD007703 Congenital atresia of mitral valve C0344760 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 8 BXGD007704 Cleft leaflet of mitral valve C0344772 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 2 BXGD007705 Tetralogy of Fallot with pulmonary atresia C0344882 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 1 BXGD007706 Right ventricular dilatation C0344893 disease Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 6 BXGD007707 Left ventricular dilatation C0344911 disease Congenital Abnormality T019 Congenital Abnormality 17 BXGD007708 Left ventricular outflow tract obstruction C0344917 disease Congenital Abnormality T019 Congenital Abnormality 13 BXGD007709 Perimembranous ventricular septal defect C0344925 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 9 BXGD007710 Ventricular septal hypertrophy C0344955 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD007711 Right hypoplastic heart syndrome C0344963 Q22.6 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD007712 Pulmonary Atresia with Intact Ventricular Septum C0344975 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD007713 Pulmonary Atresia With Ventricular Septal Defect C0344976 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD007714 Unicuspid aortic valve C0345001 disease Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 2 BXGD007715 Peripheral pulmonary artery stenosis C0345030 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system T047 Disease or Syndrome 23 BXGD007716 Ascending aorta dilatation C0345049 disease Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 7 BXGD007717 Congenital aneurysm of ascending aorta C0345050 disease C14 Cardiovascular Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 16 BXGD007718 Congenital dysmotility of small intestine C0345200 disease Congenital Abnormality HP:0025031 Abnormality of the digestive system T019 Congenital Abnormality 3 BXGD007719 Low anorectal malformation C0345218 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD007720 Short segment Hirschsprung's disease C0345237 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality T019 Congenital Abnormality 5 BXGD007721 Total intestinal aganglionosis C0345240 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality HP:0025031;HP:0000707 Abnormality of the digestive system; Abnormality of the nervous system T019 Congenital Abnormality 2 BXGD007722 Neuronal intestinal dysplasia C0345244 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD007723 Hyperganglionosis C0345245 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD007724 Liver hyperplasia C0345288 disease Congenital Abnormality T019 Congenital Abnormality 10 BXGD007725 Hypoplasia of vagina C0345309 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 17 BXGD007726 Cyst of hydatid of Morgagni C0345319 phenotype C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Congenital Abnormality T019 Congenital Abnormality 4 BXGD007727 Congenital phimosis C0345326 disease C16;C17;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 8 BXGD007728 Radial polydactyly C0345354 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 51 BXGD007729 Hypoplasia of lower limb C0345371 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 6 BXGD007730 Congenital hypoplasia of femur C0345375 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 22 BXGD007731 Gorlin Chaudhry Moss syndrome C0345382 disease C16;C17;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007732 Congenital kyphoscoliosis C0345392 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 151 BXGD007733 Hypoplasia of spine C0345394 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 5 BXGD007734 Accessory rib C0345397 Q76.6 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 12 BXGD007735 Neonatal hyperparathyroidism C0345406 disease C16;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007736 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 C0345407 disease C16;C18;C13;C05;C12;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD007737 Hereditary clubbing C0345408 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD007738 Cutis marmorata telangiectatica congenita C0345419 disease C17;C14 Skin and Connective Tissue Diseases; Cardiovascular Diseases Congenital Abnormality HP:0001574 Abnormality of the integument T019 Congenital Abnormality 2 BXGD007739 Parotid Gland Carcinoma C0345602 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD007740 Neoplasm of minor salivary gland C0345613 disease C06;C04;C07 Digestive System Diseases; Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD007741 Neoplasm of middle ear C0345617 disease C04;C09 Neoplasms; Otorhinolaryngologic Diseases Neoplastic Process HP:0002664;HP:0000598 Neoplasm; Abnormality of the ear DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD007742 Neoplasm of small intestine C0345832 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD007743 Juvenile polyposis syndrome C0345893 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 48 BXGD007744 Anal skin tag C0345903 phenotype C17 Skin and Connective Tissue Diseases Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD007745 Malignant neoplasm of liver C0345904 C22.9 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1649 BXGD007746 Intrahepatic Cholangiocarcinoma C0345905 C22.1 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 470 BXGD007747 Sarcoma of liver C0345906 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD007748 Angiosarcoma of liver C0345907 C22.3 disease C06;C04;C14 Digestive System Diseases; Neoplasms; Cardiovascular Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD007749 Neoplasm of ampulla of Vater C0345916 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD007750 Squamous cell carcinoma of trachea C0345946 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD007751 Large cell carcinoma of lung C0345958 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process HP:0002664;HP:0002086 Neoplasm; Abnormality of the respiratory system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 67 BXGD007752 Giant cell carcinoma of lung C0345960 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 14 BXGD007753 Epithelioid hemangioendothelioma of lung C0345961 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD007754 Benign neoplasm of lung C0345963 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD007755 Adenoma of lung C0345964 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 30 BXGD007756 Malignant mesothelioma C0345967 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process HP:0002664 Neoplasm DOID:14566 disease of cellular proliferation T191 Neoplastic Process 420 BXGD007757 Multiple self-healing epithelioma of Ferguson-Smith C0345982 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD007758 Solitary keratoacanthoma C0345984 disease C17 Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD007759 Irritated basal cell papilloma C0345986 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD007760 Pilar tumor C0345992 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD007761 Milium Cyst C0345996 disease C23;C04;C17 Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 20 BXGD007762 Multiple fibrofolliculomas C0346010 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 16 BXGD007763 Fibrofolliculoma C0346011 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm T191 Neoplastic Process 10 BXGD007764 Fibroepithelioma of Pinkus C0346013 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD007765 Syringocystadenoma C0346023 disease Neoplastic Process T191 Neoplastic Process 2 BXGD007766 Eccrine mixed tumor of skin C0346026 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD007767 Eccrine epithelioma C0346027 disease Neoplastic Process T191 Neoplastic Process 7 BXGD007768 Acral Lentiginous Malignant Melanoma C0346037 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 16 BXGD007769 Stage 0 Skin Melanoma C0346040 D03.9 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 21 BXGD007770 Atypical fibroxanthoma of skin C0346053 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 27 BXGD007771 Neuromuscular hamartoma C0346056 disease C04 Neoplasms Disease or Syndrome T047 Disease or Syndrome 3 BXGD007772 Cutaneous neurofibroma C0346057 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD007773 Cutaneous leiomyoma C0346064 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD007774 Cutaneous Leiomyosarcoma C0346067 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD007775 Blue rubber bleb nevus syndrome C0346072 disease C06;C04;C17 Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD007776 Skin Angiosarcoma C0346081 disease C04;C17;C14 Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD007777 Nevus spilus C0346099 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T191 Neoplastic Process 3 BXGD007778 Follicular atrophoderma and basal cell epitheliomata C0346104 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD007779 Malignant Mesothelioma of Peritoneum C0346109 C45.1 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:14566 disease of cellular proliferation T191 Neoplastic Process 65 BXGD007780 Malignant mesothelioma of pericardium C0346110 C45.2 disease C04;C08;C14 Neoplasms; Respiratory Tract Diseases; Cardiovascular Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD007781 Breast Cancer, Familial C0346153 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 183 BXGD007782 Malignant phyllodes tumor of breast C0346154 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD007783 Benign neoplasm of breast C0346156 D24 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 46 BXGD007784 Malignant epithelial tumor of ovary C0346161 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD007785 Endometrioid carcinoma ovary C0346163 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 52 BXGD007786 Undifferentiated carcinoma of ovary C0346167 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD007787 Ovarian Cystadenoma C0346169 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD007788 Serous cystadenoma of ovary C0346170 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process HP:0000119 Abnormality of the genitourinary system T191 Neoplastic Process 5 BXGD007789 Mucinous cystadenoma of ovary C0346172 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD007790 Ovarian gynandroblastoma C0346178 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD007791 Malignant Ovarian Germ Cell Neoplasm C0346180 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD007792 Immature Ovarian Teratoma C0346182 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD007793 Ovarian Embryonal Carcinoma C0346183 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD007794 Dysgerminoma of ovary C0346185 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD007795 Benign teratoma of ovary C0346186 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD007796 Endodermal sinus tumor of ovary C0346188 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD007797 Carcinoma in situ of endometrium C0346191 D07.0 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 18 BXGD007798 Intravenous leiomyomatosis C0346200 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 6 BXGD007799 Cervical Adenosquamous Carcinoma C0346202 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD007800 Cervical Adenocarcinoma In Situ C0346203 D06 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD007801 Vaginal intraepithelial neoplasia C0346208 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 8 BXGD007802 Vulval intraepithelial neoplasia C0346210 N90.3 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 29 BXGD007803 Cystadenocarcinoma of kidney C0346249 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD007804 Sarcoma of kidney C0346251 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD007805 Oncocytoma, renal C0346255 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 34 BXGD007806 Pituitary carcinoma C0346300 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD007807 Growth Hormone-Secreting Pituitary Adenoma C0346302 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 60 BXGD007808 Thyrotroph adenoma C0346303 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD007809 Gonadotroph adenoma C0346304 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD007810 Pituitary macroadenoma C0346308 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD007811 Optic Nerve Glioma C0346326 disease C04;C11;C10 Neoplasms; Eye Diseases; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 22 BXGD007812 Adenoid cystic carcinoma of lacrimal gland C0346340 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD007813 Carcinoma ex pleomorphic adenoma of lacrimal gland C0346342 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD007814 Squamous cell carcinoma of conjunctiva C0346359 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD007815 Malignant melanoma of conjunctiva C0346360 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 30 BXGD007816 Nevus of conjunctiva C0346363 disease C04;C11 Neoplasms; Eye Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD007817 Malignant melanoma of iris C0346373 disease C04;C11 Neoplasms; Eye Diseases Neoplastic Process HP:0002664;HP:0000478 Neoplasm; Abnormality of the eye DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD007818 Malignant melanoma of ciliary body C0346379 disease C04;C11 Neoplasms; Eye Diseases Neoplastic Process HP:0002664;HP:0000478 Neoplasm; Abnormality of the eye DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD007819 Malignant melanoma of choroid C0346388 disease C04;C11 Neoplasms; Eye Diseases Neoplastic Process HP:0002664;HP:0000478 Neoplasm; Abnormality of the eye DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 27 BXGD007820 Hemangioma of choroid C0346390 disease C04;C14 Neoplasms; Cardiovascular Diseases Neoplastic Process HP:0002664;HP:0000478;HP:0001626 Neoplasm; Abnormality of the eye; Abnormality of the cardiovascular system T191 Neoplastic Process 4 BXGD007821 Retinoma C0346396 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 12 BXGD007822 Mixed follicular and papillary thyroid carcinoma C0346398 disease Neoplastic Process T191 Neoplastic Process 31 BXGD007823 Malignant neoplasm of adrenal cortex C0346402 C74.0 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 60 BXGD007824 Ectopic parathyroid adenoma C0346405 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD007825 Parathyroid hormone-related peptide-secreting tumor C0346408 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD007826 Benign neuroendocrine tumor C0346416 D3A disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD007827 Chronic eosinophilic leukemia C0346421 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 42 BXGD007828 Multiple malignancy C0346429 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 163 BXGD007829 Malignant neoplasm of cardioesophageal junction of stomach C0346619 C16.0 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 26 BXGD007830 Intestinal Cancer C0346627 C26.0 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 89 BXGD007831 Malignant neoplasm of large intestine C0346629 C18.9 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 173 BXGD007832 Malignant neoplasm of pancreas C0346647 C25.9 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2667 BXGD007833 Malignant tumor of exocrine pancreas C0346648 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD007834 Malignant melanoma of breast C0346787 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD007835 Malignant neoplasm of cerebrum C0346903 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD007836 Disseminated Malignant Neoplasm C0346957 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 232 BXGD007837 Secondary malignant neoplasm of rectum C0346975 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD007838 Secondary malignant neoplasm of pancreas C0346976 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 69 BXGD007839 Secondary malignant neoplasm of spleen C0346977 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD007840 Secondary malignant neoplasm of bone marrow C0346979 C79.52 disease C04;C05;C15 Neoplasms; Musculoskeletal Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 12 BXGD007841 Secondary malignant neoplasm of peritoneum C0346989 disease Neoplastic Process T191 Neoplastic Process 58 BXGD007842 Carcinomatosis of peritoneal cavity C0346990 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 107 BXGD007843 Secondary malignant neoplasm of omentum C0346991 disease Neoplastic Process T191 Neoplastic Process 14 BXGD007844 Secondary malignant neoplasm of female breast C0346993 C79.81 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 14 BXGD007845 Secondary malignant neoplasm of prostate C0347001 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD007846 Secondary malignant neoplasm of spinal cord C0347016 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD007847 Carcinoma in situ of mouth C0347073 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD007848 Dysplasia of anus C0347129 K62.82 disease C23;C06;C04;C13 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 21 BXGD007849 Carcinoma in situ of fallopian tube C0347176 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 3 BXGD007850 Penile intraepithelial neoplasia C0347180 disease C23;C04;C13;C17;C12 Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 9 BXGD007851 Benign neoplasm of oral cavity C0347197 group C06;C04;C07 Digestive System Diseases; Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD007852 Benign tumor of salivary gland C0347206 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD007853 Polyp of duodenum C0347266 disease C06 Digestive System Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD007854 Benign neoplasm of large intestine C0347272 D12.6 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 4 BXGD007855 Benign tumor of pancreas C0347284 D13.6 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 13 BXGD007856 Skin Papilloma C0347390 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 8 BXGD007857 Benign neoplasm of central nervous system C0347509 D33.9 group C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 21 BXGD007858 Spinal Meningioma C0347515 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 19 BXGD007859 Perforation of colon C0347646 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 6 BXGD007860 Hemorrhage into ovary C0347659 disease C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007861 Epilepsy, Akinetic C0347869 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD007862 Congenital malformation syndromes associated with short stature C0347915 Q87.1 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225;DOID:150 genetic disease; disease of anatomical entity; syndrome; disease of mental health T047 Disease or Syndrome 9 BXGD007863 Pelvic mass C0347944 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Finding HP:0025031 Abnormality of the digestive system T033 Finding 3 BXGD007864 Asthma attack C0347950 disease C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 32 BXGD007865 Lactic acidemia C0347959 phenotype Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 12 BXGD007866 Spinal arteriovenous malformation C0348023 disease C16;C05;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system T019 Congenital Abnormality 2 BXGD007867 Early syphilis, unspecified C0348148 A51 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD007868 Central Nervous System Viral Diseases C0348165 A89 group C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD007869 Hemophilus influenza infection C0348321 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD007870 Malignant Central Nervous System Neoplasm C0348374 C72.9 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 21 BXGD007871 Benign neoplasm of meninges C0348426 D32.9 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD007872 Other hypoparathyroidism C0348454 E20.8 disease C19 Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD007873 Other hyperaldosteronism C0348460 E26.8 disease C19 Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD007874 Other disorders of branched-chain amino-acid metabolism C0348484 E71.19 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD007875 Other sphingolipidosis C0348489 E75.2 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD007876 Other restrictive cardiomyopathy C0348616 I42.5 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD007877 Other cardiomyopathies C0348617 I42.8 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD007878 Other specified cardiac arrhythmias C0348626 I49.8 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 12 BXGD007879 Acute bronchitis due to respiratory syncytial virus C0348796 J20.5 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD007880 Group B streptococcal pneumonia C0348801 J15.3 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD007881 Disorders of both mitral and tricuspid valves C0348872 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD007882 Aplastic anemia, idiopathic C0348890 D61.3 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD007883 Chronic superficial gastritis C0348893 K29.3 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 25 BXGD007884 Irritable bowel syndrome with diarrhea C0348898 K58.0 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD007885 Pre-existing diabetes mellitus, non-insulin-dependent C0348921 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007886 Hyperuricemia without signs of inflammatory arthritis and tophaceous disease C0348944 E79.0 disease C23;C16;C18 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD007887 Imbalance of constituents of food intake C0348951 E63.1 phenotype C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007888 Chronic anal fissure C0349071 K60.1 phenotype C06 Digestive System Diseases Acquired Abnormality T020 Acquired Abnormality 1 BXGD007889 Dementia in Parkinson's disease C0349081 disease Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 9 BXGD007890 Delirium co-occurrent with dementia C0349086 F05 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD007891 Mental and behavioral disorders due to use of cocaine, unspecified mental and behavioral disorder C0349141 group Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD007892 Nonorganic psychosis C0349204 F29 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 376 BXGD007893 Manic episode C0349208 F30.9 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 9 BXGD007894 Depressive episode, unspecified C0349217 disease F03;F01 Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 27 BXGD007895 Recurrent depressive disorder C0349218 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 29 BXGD007896 Phobic anxiety disorder C0349231 F40.9 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 31 BXGD007897 Behavioral syndrome associated with physiological disturbance and physical factors C0349251 F59 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 8 BXGD007898 Nonorganic Insomnia C0349255 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 4 BXGD007899 Non-fluent aphasia C0349390 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD007900 Apraxia, Verbal C0349391 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 4 BXGD007901 Paranoid delusion C0349398 disease F03;F01 Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD007902 Pangastrointestinal system dysfunction C0349411 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD007903 Gram-positive septic shock C0349415 disease C23;C01;C14 Pathological Conditions, Signs and Symptoms; Infections; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007904 Ferrochelatase deficiency C0349426 disease C16;C06;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD007905 Mass of thyroid gland C0349453 disease C19 Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD007906 Cervical intraepithelial neoplasia grade 1 C0349458 N87.0 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 75 BXGD007907 Cervical intraepithelial neoplasia grade 2 C0349459 N87.1 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 77 BXGD007908 Wernicke-Korsakoff Syndrome C0349464 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction DOID:0014667;DOID:150 disease of metabolism; disease of mental health T048 Mental or Behavioral Dysfunction 8 BXGD007909 Congenital goiter C0349476 disease C16;C13;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD007910 Transient hypothyroxinemia C0349486 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007911 Fetal Hypoxia C0349489 disease C23;C16;C13 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 21 BXGD007912 Photosensitivity of skin C0349506 phenotype C17 Skin and Connective Tissue Diseases Pathologic Function HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T046 Pathologic Function 91 BXGD007913 Amelanotic Skin Melanoma C0349515 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD007914 Isolated aortic stenosis C0349516 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD007915 Solitary leiomyoma C0349528 disease Neoplastic Process T191 Neoplastic Process 1 BXGD007916 Early gastric cancer C0349530 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 100 BXGD007917 Gastric lymphoma C0349532 disease C06;C04;C20;C15 Digestive System Diseases; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process HP:0025031;HP:0002664;HP:0001871 Abnormality of the digestive system; Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 24 BXGD007918 Lymphoma of intestine C0349533 disease C06;C04;C20;C15 Digestive System Diseases; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD007919 Carcinoma of anal margin C0349534 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 33 BXGD007920 Carcinoid tumor of intestine C0349535 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD007921 Malignant melanoma of anus C0349538 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD007922 Malignant melanoma of rectum C0349539 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD007923 Astrocytoma of spinal cord C0349540 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD007924 Brain Glioblastoma C0349543 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD007925 Vaginal intraepithelial neoplasia grade 2 C0349555 N89.1 disease Neoplastic Process T191 Neoplastic Process 4 BXGD007926 Gestational choriocarcinoma C0349557 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD007927 Vulval intraepithelial neoplasia grade 3 C0349560 D07.1 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD007928 Squamous cell carcinoma of tongue C0349566 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process HP:0002664;HP:0000152 Neoplasm; Abnormality of head or neck DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 462 BXGD007929 Pleomorphic adenoma of parotid gland C0349571 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 7 BXGD007930 Complex Endometrial Hyperplasia C0349578 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 7 BXGD007931 Atypical Endometrial Hyperplasia C0349579 N85.02 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 32 BXGD007932 Trigeminal schwannoma C0349582 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD007933 Short stature C0349588 R62.52 phenotype Finding HP:0001507 Growth abnormality T033 Finding 1127 BXGD007934 Intracranial Meningioma C0349604 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 38 BXGD007935 Medulloblastoma of cerebellum C0349619 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD007936 Pilocytic astrocytoma of cerebellum C0349620 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD007937 Hemangiopericytoma of meninges C0349622 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD007938 Richter's syndrome C0349631 C91.1 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 61 BXGD007939 Splenic Marginal Zone B-Cell Lymphoma C0349632 C83.0 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 93 BXGD007940 Hairy cell leukemia variant C0349633 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD007941 Pre B-cell acute lymphoblastic leukemia C0349636 disease Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues T191 Neoplastic Process 90 BXGD007942 Common acute lymphoblastic leukemia C0349637 disease Neoplastic Process T191 Neoplastic Process 43 BXGD007943 Juvenile Myelomonocytic Leukemia C0349639 C93.3 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 179 BXGD007944 Malignant lymphoma of testis C0349644 disease C04;C12;C20;C19;C15 Neoplasms; Male Urogenital Diseases; Immune System Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD007945 Pulmonary lymphangioleiomyomatosis C0349649 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 12 BXGD007946 Congenital disorder of glycosylation type 1A C0349653 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 10 BXGD007947 Trichoepithelioma C0349658 disease C04 Neoplasms Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm T191 Neoplastic Process 24 BXGD007948 Sarcoma of breast C0349667 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD007949 Endometrioid carcinoma of prostate C0349672 disease Neoplastic Process T191 Neoplastic Process 7 BXGD007950 Hypergranular promyelocytic leukemia C0349675 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD007951 Corneal Scar C0349702 phenotype C11;C10;C26 Eye Diseases; Nervous System Diseases; Wounds and Injuries Finding HP:0000478;HP:0003549 Abnormality of the eye; Abnormality of connective tissue T033 Finding 14 BXGD007952 Abnormal hemoglobin finding C0349705 D58.2 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 9 BXGD007953 Ischemic myocardial dysfunction C0349780 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD007954 Ischemic cardiomyopathy C0349782 I25.5 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 110 BXGD007955 Torticollis, Psychogenic C0349785 F45.8 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD007956 Arrhythmogenic Right Ventricular Dysplasia C0349788 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality DOID:7 disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 82 BXGD007957 Organophosphorus Poisoning C0353676 disease C25 Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 4 BXGD007958 Verrucous epidermal nevus C0362030 Q82.5 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD007959 Prediabetes syndrome C0362046 R73.03 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 205 BXGD007960 Erythrocyte Mean Corpuscular Hemoglobin Test C0369183 phenotype Laboratory Procedure T059 Laboratory Procedure 13 BXGD007961 Dihydrotestosterone Assay C0373601 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD007962 Ferritin measurement C0373607 phenotype Laboratory Procedure T059 Laboratory Procedure 10 BXGD007963 Magnesium measurement C0373675 phenotype Laboratory Procedure T059 Laboratory Procedure 7 BXGD007964 Progesterone measurement C0373705 phenotype Laboratory Procedure T059 Laboratory Procedure 8 BXGD007965 Selenium measurement C0373721 phenotype Laboratory Procedure T059 Laboratory Procedure 7 BXGD007966 Vitamin A measurement C0373745 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD007967 Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site C0374997 disease Disease or Syndrome T047 Disease or Syndrome 593 BXGD007968 Human T-cell lymphotrophic virus, type I [HTLV-I] C0375019 disease Disease or Syndrome T047 Disease or Syndrome 25 BXGD007969 Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site C0375021 disease Disease or Syndrome T047 Disease or Syndrome 38 BXGD007970 Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site C0375023 disease Disease or Syndrome T047 Disease or Syndrome 467 BXGD007971 Hantavirus infection in conditions classified elsewhere and of unspecified site C0375024 disease Disease or Syndrome T047 Disease or Syndrome 21 BXGD007972 Malignant neoplasm of vulva C0375071 C51.9 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 49 BXGD007973 Hemiplegia/hemiparesis C0375206 G81 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 112 BXGD007974 Acute endocarditis C0375268 I33.9 disease C01;C14 Infections; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD007975 Chronic left-sided ulcerative colitis C0375359 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD007976 Peritoneal adhesions (postoperative) (postinfection) C0375362 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD007977 Urethral intrinsic sphincter deficiency C0375381 N36.42 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD007978 Congenital Ureteropelvic Junction Obstruction C0375530 disease Congenital Abnormality T019 Congenital Abnormality 6 BXGD007979 Continuous leakage of urine C0375553 N39.45 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom T184 Sign or Symptom 3 BXGD007980 Skin callus C0376154 L84 disease C17 Skin and Connective Tissue Diseases Acquired Abnormality T020 Acquired Abnormality 154 BXGD007981 Bell Palsy C0376175 G51.0 disease C01;C10;C07 Infections; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome HP:0000707;HP:0000152;HP:0003011 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculature DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD007982 Hypoaldosteronism, Hyporeninemic C0376185 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD007983 Anxiety States, Neurotic C0376280 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 44 BXGD007984 Avitaminosis C0376286 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD007985 Amaurosis C0376288 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD007986 Cardiac Death C0376297 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 2 BXGD007987 Dengue Shock Syndrome C0376300 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 18 BXGD007988 Congestive Ophthalmopathy C0376323 disease C16;C11;C20;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD007989 New Variant Creutzfeldt-Jakob Disease C0376329 A81.01 disease C01;C10;F03 Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 23 BXGD007990 Diagnosis, Psychiatric C0376338 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 46 BXGD007991 Premenstrual Tension C0376356 N94.3 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD007992 Malignant neoplasm of prostate C0376358 C61 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process HP:0000119 Abnormality of the genitourinary system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4502 BXGD007993 Gronblad-Strandberg Syndrome C0376359 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD007994 Purpura Hemorrhagica C0376362 phenotype C23;C20;C15;C14 Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD007995 Nicotine Use Disorder C0376384 phenotype C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 14 BXGD007996 Granulomatous Slack Skin C0376407 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 22 BXGD007997 Hibernation, Myocardial C0376416 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD007998 Gingival Overgrowth C0376480 K06.1 phenotype C07 Stomatognathic Diseases Finding HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T033 Finding 100 BXGD007999 Skull Base Neoplasms C0376527 group C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD008000 Epilepsy, Rolandic C0376532 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 46 BXGD008001 Hematopoietic Neoplasms C0376544 group C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 322 BXGD008002 Hematologic Neoplasms C0376545 group C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 827 BXGD008003 Endotoxemia C0376618 phenotype C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 401 BXGD008004 Pouchitis C0376620 K91.850 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 38 BXGD008005 Chromosome Breakage C0376628 phenotype C23 Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T049 Cell or Molecular Dysfunction 17 BXGD008006 Craniofacial Abnormalities C0376634 group C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 234 BXGD008007 Pancreatitis, Alcoholic C0376670 disease C06;C25 Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 61 BXGD008008 Clinical Capillary Leak Syndrome C0376704 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008009 Viral Load result C0376705 phenotype Finding T033 Finding 65 BXGD008010 Tietz syndrome C0391816 disease C23;C16;C18;C11;C17;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD008011 Gouty nephropathy C0391820 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD008012 Post-cardiac injury syndrome C0391821 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD008013 Lhermitte-Duclos disease C0391826 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process HP:0000707 Abnormality of the nervous system DOID:630;DOID:7 genetic disease; disease of anatomical entity T191 Neoplastic Process 41 BXGD008014 Diffuse inflammation C0391860 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD008015 Plasma cell inflammation C0391861 disease Disease or Syndrome T047 Disease or Syndrome 16 BXGD008016 Polycythemia due to excess erythopoetin production C0391869 D75.1 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD008017 Abnormality of red blood cells C0391870 R71 group C15 Hemic and Lymphatic Diseases Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 2 BXGD008018 Hemorrhagic enteritis C0391922 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008019 idiopathic epilepsy C0391957 disease Disease or Syndrome T047 Disease or Syndrome 30 BXGD008020 Familial Epilepsies C0391958 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD008021 Carcinoid tumor, malignant C0391970 C7A.0 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD008022 Pain Disorder C0391976 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 41 BXGD008023 Atrophy of liver C0391996 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD008024 Bilateral cleft lip C0392005 Q36.0 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 8 BXGD008025 Unilateral cleft lip C0392006 Q36.9 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck DOID:7;DOID:225;DOID:0080015 disease of anatomical entity; syndrome; physical disorder T019 Congenital Abnormality 14 BXGD008026 Leukoplakia of larynx C0392050 disease C23;C04;C08;C09 Pathological Conditions, Signs and Symptoms; Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD008027 Cardiac sarcoidosis C0392077 disease C15;C14 Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD008028 Neurogenic Urinary Bladder, Uninhibited C0392115 disease C23;C13;C12;C10 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD008029 Akathisia C0392156 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 15 BXGD008030 Corneal erosion C0392163 disease C01;C11 Infections; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 33 BXGD008031 Pulmonary Cystic Fibrosis C0392164 disease C16;C06;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 53 BXGD008032 Fibrotic lymphadenopathy C0392170 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008033 Influenza-like symptoms C0392171 phenotype Sign or Symptom T184 Sign or Symptom 30 BXGD008034 Lipiduria C0392178 phenotype Finding T033 Finding 1 BXGD008035 Verbal repetition C0392185 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD008036 Abnormal rapid eye movement sleep C0392188 phenotype C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Finding HP:0000707 Abnormality of the nervous system T033 Finding 11 BXGD008037 Undifferentiated schizophrenia C0392322 F20.3 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD008038 Arachnophobia C0392331 F40.210 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD008039 despondency C0392375 phenotype F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD008040 Diffuse malignant mesothelioma C0392400 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 7 BXGD008041 Acrodermatitis continua of Hallopeau C0392439 L40.2 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD008042 Coup de sabre scleroderma C0392441 L94.1 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008043 Necrobiosis Lipoidica Diabeticorum C0392445 disease C18;C17 Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008044 Anomalous atrioventricular excitation C0392470 I45.6 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7;DOID:225 disease of anatomical entity; syndrome T047 Disease or Syndrome 1 BXGD008045 Roberts-SC phocomelia syndrome C0392475 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 11 BXGD008046 Epiphyseal dysplasia C0392476 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000924 Abnormality of the skeletal system DOID:630;DOID:225 genetic disease; syndrome T019 Congenital Abnormality 27 BXGD008047 Congenital flat foot C0392477 Q66.5 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD008048 Common atrium C0392482 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T019 Congenital Abnormality 11 BXGD008049 Congenital diverticulum of pharynx C0392485 Q38.7 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality T019 Congenital Abnormality 10 BXGD008050 Asymptomatic periapical periodontitis C0392492 K04.5 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD008051 Hereditary hemochromatosis C0392514 E83.110 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 254 BXGD008052 Nephrolithiasis C0392525 N20.0 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 242 BXGD008053 Cauda Equina Syndrome C0392548 G83.4 disease C10 Nervous System Diseases Disease or Syndrome DOID:7;DOID:225 disease of anatomical entity; syndrome T047 Disease or Syndrome 3 BXGD008054 Hemiplegia, Infantile C0392550 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD008055 Hereditary peripheral neuropathy C0392553 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD008056 Nuclear cataract C0392557 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 39 BXGD008057 Severe combined immunodeficiency due to adenosine deaminase deficiency C0392607 D81.31 disease C16;C18;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 24 BXGD008058 Toxic effect of carbon tetrachloride C0392622 T53.0X disease C25 Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 6 BXGD008059 Oropharyngeal tularemia C0392642 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 2 BXGD008060 Angiostrongyliasis C0392662 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 2 BXGD008061 Infection by Wuchereria bancrofti C0392663 B74.0 disease C01;C15 Infections; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 9 BXGD008062 Infestation by Demodex C0392666 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD008063 Swallowing problem C0392678 phenotype C06 Digestive System Diseases Sign or Symptom T184 Sign or Symptom 13 BXGD008064 Dysesthesia C0392699 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 22 BXGD008065 Abnormal involuntary movement C0392702 R25.9 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 22 BXGD008066 Atopy C0392707 phenotype C20 Immune System Diseases Pathologic Function T046 Pathologic Function 6 BXGD008067 Cystic medial necrosis of aorta C0392775 disease C23;C04;C14 Pathological Conditions, Signs and Symptoms; Neoplasms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD008068 Poikiloderma C0392777 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 20 BXGD008069 Dermatofibrosarcoma Protuberans C0392784 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 78 BXGD008070 Nasal Type Extranodal NK/T-Cell Lymphoma C0392788 C86.0 disease C04 Neoplasms Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 53 BXGD008071 High density lipoprotein measurement C0392885 phenotype Laboratory Procedure T059 Laboratory Procedure 545 BXGD008072 Carcinosarcoma of ovary C0392998 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD008073 Bacterial ventriculitis C0393446 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD008074 Brainstem encephalitis C0393483 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD008075 Rasmussen Syndrome C0393484 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD008076 Neurosarcoidosis C0393485 disease C10;C15 Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD008077 Vacuolar myelopathy C0393489 disease C23;C01;C20;C10 Pathological Conditions, Signs and Symptoms; Infections; Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD008078 Cerebellar Ataxia, Early Onset C0393519 G11.1 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 12 BXGD008079 Harding ataxia C0393520 G11.19 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD008080 Cerebellar Ataxia, Late Onset C0393524 G11.2 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD008081 Progressive cerebellar ataxia C0393525 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 136 BXGD008082 Paraneoplastic Cerebellar Degeneration C0393534 disease C04;C10 Neoplasms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD008083 Muscular Atrophy, Spinal, Type II C0393538 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD008084 Distal Spinal Muscular Atrophy C0393541 G12.1 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD008085 Oculopharyngeal Spinal Muscular Atrophy C0393546 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD008086 Bulbospinal Neuronopathy C0393547 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD008087 Amyotrophic Lateral Sclerosis With Dementia C0393554 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 30 BXGD008088 Pure hereditary spastic paraplegia C0393555 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD008089 Complicated hereditary spastic paraplegia C0393556 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD008090 Troyer syndrome C0393559 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD008091 Subcortical Vascular Dementia C0393561 disease C10;F03;C14 Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD008092 Vascular parkinsonism C0393568 G21.4 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008093 Corticobasal degeneration C0393570 G31.85 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 35 BXGD008094 Multiple System Atrophy C0393571 phenotype C10 Nervous System Diseases Pathologic Function DOID:7 disease of anatomical entity T046 Pathologic Function 19 BXGD008095 Huntington Disease, Late Onset C0393574 disease C16;C10;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 12 BXGD008096 Chorea Acanthocytosis Syndrome C0393576 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 29 BXGD008097 Pallidal degeneration C0393577 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 1 BXGD008098 Pallidoluysian degeneration C0393578 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD008099 Benign Hereditary Chorea C0393584 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD008100 Dystonia, Paroxysmal C0393588 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 28 BXGD008101 Fahr's syndrome (disorder) C0393590 disease C18;C10;C14 Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD008102 AICARDI-GOUTIERES SYNDROME C0393591 disease C16;C20;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 117 BXGD008103 Dystonia Disorders C0393593 G24 group C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 167 BXGD008104 Idiopathic familial dystonia C0393598 G24.1 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD008105 Idiopathic non-familial dystonia C0393601 G24.2 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD008106 Isolated cervical dystonia C0393602 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008107 Dystonia, Diurnal C0393610 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 18 BXGD008108 Familial Tremor C0393615 G25.0 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD008109 Opsoclonus-Myoclonus Syndrome C0393626 disease C04;C11;C10 Neoplasms; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD008110 Hashimoto's encephalitis C0393639 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 47 BXGD008111 Sepsis-Associated Encephalopathy C0393642 G93.41 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 57 BXGD008112 Multiple Sclerosis, Acute Relapsing C0393664 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008113 Multiple Sclerosis, Chronic Progressive C0393665 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD008114 Frontal Epilepsy, Benign, Childhood C0393671 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD008115 Epilepsy, Benign Psychomotor, Childhood C0393672 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 23 BXGD008116 Panayiotopoulos Syndrome C0393676 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008117 Epilepsy, Lateral Temporal C0393682 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 29 BXGD008118 Epilepsy, Supplementary Motor C0393683 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD008119 Epilepsy, Cingulate C0393684 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD008120 Epilepsy, Opercular C0393688 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD008121 Early Childhood Epilepsy, Myoclonic C0393695 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD008122 Cryptogenic Infantile Spasms C0393698 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD008123 Symptomatic Infantile Spasms C0393699 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD008124 Myoclonic Astatic Epilepsy C0393702 G40.4 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 16 BXGD008125 Myoclonic Absence Epilepsy C0393703 G40.4 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD008126 Early infantile epileptic encephalopathy with suppression bursts C0393706 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 81 BXGD008127 Menstrual epilepsy C0393718 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008128 Nocturnal epilepsy C0393719 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 4 BXGD008129 Reflex Epilepsy, Photosensitive C0393720 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD008130 Immersion Related Epilepsy C0393729 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008131 Complex Partial Status Epilepticus C0393734 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 68 BXGD008132 Headache Disorders C0393735 group C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD008133 Episodic tension-type headache C0393737 G44.21 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008134 Chronic tension-type headache C0393738 G44.22 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD008135 Episodic Cluster Headache C0393739 G44.01 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD008136 Chronic post-traumatic headache C0393745 G44.32 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008137 Headache associated with sexual activity C0393754 G44.82 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 14 BXGD008138 Hangover from alcohol C0393756 phenotype C25;F03 Chemically-Induced Disorders; Mental Disorders Sign or Symptom T184 Sign or Symptom 16 BXGD008139 Transient Insomnia C0393759 phenotype C10;F03 Nervous System Diseases; Mental Disorders Sign or Symptom T184 Sign or Symptom 4 BXGD008140 Initial insomnia C0393760 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD008141 Middle insomnia C0393761 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD008142 Delayed Sleep Phase Syndrome C0393770 G47.21 disease C10;F03;C24 Nervous System Diseases; Mental Disorders; Occupational Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD008143 Sleep-Related Painful Erections C0393776 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD008144 Trigeminal Neuralgia, Idiopathic C0393786 disease C10;C07 Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD008145 Secondary Trigeminal Neuralgia C0393787 disease C10;C07 Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD008146 Miller Fisher Syndrome C0393799 G61.0 disease C11;C20;C10 Eye Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD008147 Hereditary motor and sensory neuropathy with optic atrophy (disorder) C0393807 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD008148 Charcot-Marie-Tooth disease, X-linked, 1 C0393808 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 10 BXGD008149 Hereditary liability to pressure palsies C0393814 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 23 BXGD008150 Congenital hypomyelinating neuropathy C0393818 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD008151 Polyradiculoneuropathy, Chronic Inflammatory Demyelinating C0393819 G61.81 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 82 BXGD008152 Diabetic Asymmetric Polyneuropathy C0393835 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD008153 Multifocal motor neuropathy C0393847 G61.82 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD008154 Axonal sensorimotor neuropathy C0393907 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD008155 Pure Autonomic Failure C0393911 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD008156 Familial infantile myasthenia C0393929 disease C23;C04;C08;C20;C10 Pathological Conditions, Signs and Symptoms; Neoplasms; Respiratory Tract Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD008157 Pseudomyopathic myasthenia C0393933 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD008158 Slow channel syndrome C0393934 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD008159 Cholinergic crisis C0393947 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008160 Anterior Cerebral Circulation Infarction C0393953 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD008161 Spinal cord stroke C0393971 disease C10;C14;C26 Nervous System Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 3 BXGD008162 Multicystic Encephalomalacia C0393992 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008163 Cerebral Palsy, Dystonic-Rigid C0394003 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008164 Congenital non-progressive ataxia C0394004 G11.0 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD008165 Ataxic cerebral palsy C0394005 G80.4 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 25 BXGD008166 Dysequilibrium syndrome C0394006 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD008167 Cerebral Palsy, Atonic C0394007 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008168 Acute alcoholic intoxication C0394996 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 7 BXGD008169 Stenosis of external auditory canal C0395837 disease Disease or Syndrome HP:0000598 Abnormality of the ear T047 Disease or Syndrome 25 BXGD008170 Recurrent acute otitis media C0395866 disease Disease or Syndrome T047 Disease or Syndrome 11 BXGD008171 Cholesteatoma, Congenital C0395886 disease C17 Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 8 BXGD008172 Tympanosclerosis C0395887 H74.09 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD008173 Migrainous vertigo C0395920 disease C10;C09 Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD008174 Dilatation of the vestibular aqueduct C0395942 disease C05;C09 Musculoskeletal Diseases; Otorhinolaryngologic Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD008175 Dominant sensorineural hearing loss C0395971 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD008176 Recessive sensorineural hearing loss C0395973 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD008177 Hearing loss associated with syndrome C0395976 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008178 Pharyngocutaneous fistula C0396009 phenotype C23;C06;C17;C07;C09 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008179 Chronic adenoiditis C0396023 J35.02 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD008180 Chronic adenotonsillitis C0396024 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD008181 Congenital laryngeal adductor palsy C0396060 disease C23;C08;C10;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality T019 Congenital Abnormality 17 BXGD008182 Laryngeal papillomatosis C0396072 disease C04;C08;C09 Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD008183 Distal intestinal obstruction syndrome C0398349 E84.19 disease Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 1 BXGD008184 Acute cardiac pulmonary edema C0398350 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD008185 Abdominal aortic atherosclerosis C0398356 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD008186 Trousseau's syndrome C0398359 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD008187 Histiocytic Necrotizing Lymphadenitis C0398367 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD008188 Lymphatic Abnormalities C0398368 group C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Anatomical Abnormality T190 Anatomical Abnormality 30 BXGD008189 Lipedema C0398370 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0003549 Abnormality of connective tissue T047 Disease or Syndrome 4 BXGD008190 Glucose phosphate isomerase deficiency C0398561 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008191 Triose phosphate isomerase deficiency C0398562 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD008192 Deficiency of hexokinase (disorder) C0398563 disease C16;C18;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008193 Deficiency of adenylate kinase C0398564 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD008194 Blood group deletion syndrome C0398568 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD008195 T-cell lymphocytosis C0398581 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008196 Specific granule deficiency C0398593 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD008197 Myeloperoxidase Deficiency C0398595 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD008198 Histiocytic syndrome C0398597 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 21 BXGD008199 Congenital von Willebrand's disease C0398610 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008200 Alpha-2-antiplasmin deficiency C0398620 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD008201 Hypoplasminogenemia C0398621 E88.02 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD008202 Thrombophilia C0398623 D68.59 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 161 BXGD008203 Protein C Deficiency C0398625 D68.59 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 43 BXGD008204 Heparin cofactor II deficiency (disorder) C0398626 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD008205 Inherited platelet disorder C0398627 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD008206 Thromboxane synthetase deficiency C0398635 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD008207 Acquired platelet disorder C0398636 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008208 Amegakaryocytic thrombocytopenia C0398639 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 7 BXGD008209 Epstein syndrome (disorder) C0398641 disease C23;C16;C13;C17;C12;C15 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD008210 Montreal platelet syndrome C0398642 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD008211 Posttransfusion purpura C0398648 D69.51 phenotype C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Pathologic Function HP:0001871 Abnormality of blood and blood-forming tissues T046 Pathologic Function 1 BXGD008212 Immune thrombocytopenic purpura C0398650 D69.3 disease C23;C20;C15 Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 338 BXGD008213 Ocular sarcoidosis C0398677 disease C01;C11;C15 Infections; Eye Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD008214 Sarcoid myopathy C0398680 disease C05;C10;C15 Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD008215 Primary immune deficiency disorder C0398686 group C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 93 BXGD008216 Hyper-IgM Immunodeficiency Syndrome, Type 1 C0398689 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 33 BXGD008217 Hyperimmunoglobulinemia D C0398691 disease C16;C18;C20;C10;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 12 BXGD008218 Immunoglobulin G2 deficiency C0398701 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD008219 Immunoglobulin G3 deficiency C0398703 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008220 Immunoglobulin G4 deficiency C0398704 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008221 Anti-polysaccharide antibody deficiency C0398712 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD008222 Leukocyte adhesion deficiency type 1 C0398738 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 114 BXGD008223 Congenital disorder of glycosylation, type 2C C0398739 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD008224 Gluthathione synthetase deficiency C0398746 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 2 BXGD008225 Gluthathione peroxidase deficiency C0398747 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD008226 Properdin deficiency disease C0398762 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD008227 Complement Factor D Deficiency C0398764 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008228 Hereditary C1 esterase inhibitor deficiency - deficient factor C0398775 disease C16;C17;C20;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008229 Hereditary C1 esterase inhibitor deficiency - dysfunctional factor C0398776 disease C16;C17;C20;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008230 Complement Factor H Deficiency C0398777 disease C16;C13;C12;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD008231 Carboxypeptidase N Deficiency C0398782 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008232 Immunodeficiency syndrome, variable C0398788 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD008233 Nijmegen Breakage Syndrome C0398791 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 94 BXGD008234 Hypopigmentation-immunodeficiency disease C0398794 disease C23;C16;C18;C11;C17;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 14 BXGD008235 Secondary immune deficiency disorder C0398795 group C01;C20 Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD008236 Developmental absence of tooth C0399352 K00.0 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T019 Congenital Abnormality 41 BXGD008237 Talon cusp C0399357 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 5 BXGD008238 Amelogenesis imperfecta local hypoplastic form C0399367 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality T019 Congenital Abnormality 9 BXGD008239 Amelogenesis Imperfecta, Type IB C0399368 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD008240 Amelogenesis Imperfecta hypomaturation type C0399372 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality T019 Congenital Abnormality 8 BXGD008241 Amelogenesis Imperfecta, Type III C0399376 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD008242 Dentinogenesis imperfecta - Shield's type III (disorder) C0399378 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 3 BXGD008243 Irreversible pulpitis C0399406 K04.02 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD008244 Hereditary gingival fibromatosis C0399440 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome HP:0002664;HP:0000152 Neoplasm; Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 86 BXGD008245 Early onset periodontitis C0399447 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 21 BXGD008246 Subgingival plaque C0399451 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD008247 Supragingival dental plaque C0399452 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD008248 Dysplastic oral leukoplakia C0399474 disease C23;C04;C07 Pathological Conditions, Signs and Symptoms; Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD008249 Inflammatory fibrous hyperplasia of mouth C0399495 disease C23;C07 Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Acquired Abnormality T020 Acquired Abnormality 1 BXGD008250 Granulomatosis, Orofacial C0399496 disease C23;C07 Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD008251 Class III malocclusion C0399526 M26.213 disease C07 Stomatognathic Diseases Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 181 BXGD008252 Mandibular deviation C0399553 phenotype Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD008253 Glandular odontogenic cyst C0399558 disease C16;C04;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality T190 Anatomical Abnormality 4 BXGD008254 Mandibular condyle aplasia C0399570 phenotype C05;C07 Musculoskeletal Diseases; Stomatognathic Diseases Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 3 BXGD008255 Hypoplasia of mandibular condyle C0399572 phenotype C05;C07 Musculoskeletal Diseases; Stomatognathic Diseases Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 4 BXGD008256 Stress ulcer of stomach C0400807 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD008257 Colitis, Microscopic C0400821 K52.83 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 30 BXGD008258 Colitis, Lymphocytic C0400822 K52.832 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 25 BXGD008259 Neutropenic colitis C0400823 disease C06;C15 Digestive System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008260 Simple diverticular disease of large intestine C0400837 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008261 Ileal Stenosis C0400847 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008262 Postoperative ileus C0400877 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD008263 Acute hepatitis C C0400914 B17.10 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 8 BXGD008264 Autoimmune liver disease C0400936 disease C06;C20 Digestive System Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 26 BXGD008265 Cirrhosis - non-alcoholic C0400943 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008266 Non-alcoholic Fatty Liver Disease C0400966 K76.0 disease C06 Digestive System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1058 BXGD008267 Secondary sclerosing cholangitis C0400978 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008268 Obstruction of biliary tree C0400979 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 12 BXGD008269 Cyst of biliary tract C0400990 K83.5 disease C23;C06;C04 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Acquired Abnormality T020 Acquired Abnormality 3 BXGD008270 Fungal peritonitis C0401013 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD008271 Unilateral inguinal hernia NOS C0401067 K40.90 disease C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality DOID:7 disease of anatomical entity T020 Acquired Abnormality 1 BXGD008272 Constipation - functional C0401146 K59.04 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 15 BXGD008273 Chronic constipation C0401149 K59.09 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025031 Abnormality of the digestive system T184 Sign or Symptom 47 BXGD008274 Chronic diarrhea C0401151 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 62 BXGD008275 proliferative nephritis unspecified C0403367 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD008276 Steroid-sensitive nephrotic syndrome C0403396 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 36 BXGD008277 Steroid-resistant nephrotic syndrome C0403397 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 73 BXGD008278 Steroid-dependent nephrotic syndrome C0403398 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD008279 Finnish congenital nephrotic syndrome C0403399 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 11 BXGD008280 Endocapillary glomerulonephritis C0403411 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD008281 Acute post-streptococcal glomerulonephritis C0403414 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD008282 Idiopathic crescentic glomerulonephritis C0403416 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119;HP:0002715 Abnormality of the genitourinary system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 80 BXGD008283 Thin basement membrane disease C0403440 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 12 BXGD008284 Fechtner syndrome (disorder) C0403445 disease C23;C16;C13;C17;C12;C15 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD008285 Chronic Kidney Insufficiency C0403447 N18.9 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 52 BXGD008286 Medullary nephrocalcinosis C0403477 disease C18;C13;C12 Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 9 BXGD008287 Low renal threshold for glucose C0403502 phenotype C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008288 Microalbuminuric diabetic nephropathy C0403518 disease C13;C12;C19 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD008289 Proteinuric diabetic nephropathy C0403519 disease C13;C12;C19 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008290 Henoch-Schonlein nephritis C0403528 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD008291 Anti-Glomerular Basement Membrane Disease C0403529 M31.0 disease C13;C12;C08;C20 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 32 BXGD008292 Salcedo syndrome C0403548 disease C16;C13;C17;C05;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008293 Renal dysplasia and retinal aplasia (disorder) C0403553 disease C16;C13;C11;C12;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 20 BXGD008294 Ochoa syndrome C0403555 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality DOID:630 genetic disease T019 Congenital Abnormality 5 BXGD008295 Dialysis disequilibrium syndrome C0403559 disease C23;C18;C13;C12;C10 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD008296 Adynamic bone disease C0403566 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008297 Chronic rejection of renal transplant C0403592 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 64 BXGD008298 Transplant glomerulopathy C0403601 disease Disease or Syndrome T047 Disease or Syndrome 19 BXGD008299 Primary vesicoureteric reflux C0403622 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality T019 Congenital Abnormality 8 BXGD008300 Chemical cystitis C0403639 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD008301 Hypotonic bladder disorder C0403647 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008302 Bladder outflow obstruction C0403654 disease Acquired Abnormality T020 Acquired Abnormality 5 BXGD008303 Urinary incontinence of non-organic origin C0403670 F98.0 phenotype C23;C13;C12;F03;F01 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 10 BXGD008304 Retrograde ejaculation C0403673 N53.14 phenotype F03;F01 Mental Disorders; Behavior and Behavior Mechanisms Pathologic Function HP:0000119 Abnormality of the genitourinary system T046 Pathologic Function 1 BXGD008305 Non-bacterial prostatitis C0403683 disease C12 Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD008306 Male accessory gland infection C0403693 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008307 Uric acid urolithiasis C0403719 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD008308 X-linked recessive nephrolithiasis with renal failure C0403720 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD008309 Acquired phimosis C0403766 disease C17;C12 Skin and Connective Tissue Diseases; Male Urogenital Diseases Acquired Abnormality T020 Acquired Abnormality 7 BXGD008310 Primary spermatogenic failure C0403809 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD008311 Oligosynaptic Infertility C0403810 disease C12 Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD008312 Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa C0403812 disease C12 Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD008313 Congenital bilateral aplasia of vas deferens C0403814 disease C12 Male Urogenital Diseases Congenital Abnormality T019 Congenital Abnormality 27 BXGD008314 Acquired obstructive azoospermia C0403819 disease C12 Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008315 Asthenozoospermia C0403823 disease C12 Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 164 BXGD008316 Teratozoospermia C0403824 disease C12 Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 53 BXGD008317 Globozoospermia C0403825 phenotype C12 Male Urogenital Diseases Finding HP:0000119 Abnormality of the genitourinary system DOID:630;DOID:7 genetic disease; disease of anatomical entity T033 Finding 6 BXGD008318 Acquired atrophy of ovary C0404445 N83.31 disease C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008319 Chronic pelvic pain of female C0404484 phenotype C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Sign or Symptom T184 Sign or Symptom 15 BXGD008320 Infective vaginitis C0404521 N76.0 disease C23;C13;C01 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD008321 Hypertrophy of labia C0404531 phenotype Pathologic Function HP:0000119 Abnormality of the genitourinary system T046 Pathologic Function 4 BXGD008322 Female infertility associated with anovulation C0404572 N97.0 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 8 BXGD008323 Granulomatous Mastitis C0405469 N61.2 disease C13;C17 Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008324 Gigantism and acromegaly C0405578 E22.0 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD008325 Adrenal cortical hypofunction C0405580 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T047 Disease or Syndrome 52 BXGD008326 Testicular dysfunction C0405581 E29 disease C12;C19 Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD008327 Streptococcal impetigo C0406097 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD008328 Seed corn C0406161 phenotype C17 Skin and Connective Tissue Diseases Acquired Abnormality T020 Acquired Abnormality 2 BXGD008329 Pseudofolliculitis C0406191 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD008330 Suntan C0406208 phenotype Organ or Tissue Function T042 Organ or Tissue Function 53 BXGD008331 Actinic prurigo C0406217 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD008332 Chronic prurigo C0406299 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008333 Eosinophilic pustular folliculitis C0406305 disease C17;C15 Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD008334 Chronic small plaque psoriasis C0406317 L40.0 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 82 BXGD008335 Psoriasis of nail C0406322 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD008336 Scalp psoriasis C0406326 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD008337 Acanthosis palmaris C0406352 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD008338 Post-inflammatory hyperpigmentation in lichen planus C0406366 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008339 Erosive oral lichen planus C0406378 disease C17;C07 Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008340 Laugier-Hunziker syndrome C0406425 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD008341 Non-scarring alopecia C0406457 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008342 Diffuse alopecia C0406458 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD008343 Comedonal acne C0406481 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T047 Disease or Syndrome 2 BXGD008344 Nodulocystic acne C0406482 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008345 Sebaceous hyperplasia C0406484 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD008346 Ocular Rosacea C0406486 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD008347 Lipodermatosclerosis C0406500 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD008348 Morbilliform Drug Reaction C0406537 disease C17;C20;C25 Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 24 BXGD008349 Poikiloderma of Kindler C0406557 disease C23;C16;C17;C07 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 21 BXGD008350 Follicular atrophoderma C0406563 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD008351 Superficial fibromatosis C0406571 disease C04 Neoplasms Disease or Syndrome T047 Disease or Syndrome 1 BXGD008352 Acrogeria, gottron type C0406584 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008353 Lethal tight skin contracture syndrome (disorder) C0406585 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD008354 Wiedemann-Rautenstrauch syndrome C0406586 disease C23;C16;C18;C13 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 3 BXGD008355 Wrinkly skin syndrome C0406587 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD008356 Encephalocraniocutaneous lipomatosis C0406612 disease C16;C18;C11;C17;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 5 BXGD008357 Autoimmune skin disease C0406632 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD008358 Erythema multiforme-like lupus erythematosus C0406637 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD008359 Genital lichen sclerosus C0406641 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD008360 Amyopathic dermatomyositis C0406645 disease C17;C05;C10 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD008361 Linear IgA Bullous Dermatosis C0406650 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD008362 Vulvodynia C0406670 N94.819 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome HP:0025142 Constitutional symptom T047 Disease or Syndrome 6 BXGD008363 Eczematous drug eruption C0406690 disease C17;C20;C25 Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD008364 Rudiger syndrome 1 C0406704 disease C16;C17;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 10 BXGD008365 Hay-Wells syndrome C0406709 disease C16;C11;C17;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 26 BXGD008366 Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy C0406723 disease C23;C16;C11;C17;C10;C07 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008367 Hypoplastic enamel-onycholysis-hypohidrosis syndrome C0406735 disease C23;C16;C07 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 3 BXGD008368 Kohlschutter Tonz syndrome C0406740 disease C16;C10;F03;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD008369 Keratolytic winter erythema C0406756 disease C23;C16;C17 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 2 BXGD008370 Hereditary palmoplantar keratoderma C0406757 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD008371 Symmetrical dyschromatosis of extremities C0406775 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 22 BXGD008372 Dermatopathia pigmentosa reticularis C0406778 disease C23;C04;C17 Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases Congenital Abnormality DOID:630;DOID:225 genetic disease; syndrome T019 Congenital Abnormality 3 BXGD008373 Syringocystadenoma Papilliferum C0406803 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD008374 Carney Complex C0406810 disease C16;C04;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 82 BXGD008375 Reticulate acropigmentation of Kitamura C0406811 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD008376 Labial lentigo C0406814 phenotype C04;C17;C07 Neoplasms; Skin and Connective Tissue Diseases; Stomatognathic Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 1 BXGD008377 Arthritis of hand C0409208 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008378 Arthritis of wrist C0409210 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD008379 Anterior knee pain C0409326 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD008380 Flexion contracture-shoulder C0409336 disease Acquired Abnormality HP:0000924;HP:0003549;HP:0003011 Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T020 Acquired Abnormality 5 BXGD008381 Flexion contracture - elbow C0409338 M21.22 disease Acquired Abnormality HP:0040064;HP:0000924;HP:0003549;HP:0003011 Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T020 Acquired Abnormality 73 BXGD008382 Flexion contracture - wrist C0409345 M21.23 disease Acquired Abnormality HP:0040064;HP:0000924;HP:0003549;HP:0003011 Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T020 Acquired Abnormality 15 BXGD008383 Contracture of joint of thumb C0409346 disease C05 Musculoskeletal Diseases Acquired Abnormality HP:0040064;HP:0000924;HP:0003549;HP:0003011 Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T020 Acquired Abnormality 2 BXGD008384 Flexion contracture of proximal interphalangeal joint C0409348 phenotype Finding HP:0040064;HP:0000924;HP:0003549;HP:0003011 Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T033 Finding 168 BXGD008385 Flexion contracture of hip C0409354 disease C05 Musculoskeletal Diseases Acquired Abnormality HP:0000924;HP:0003549;HP:0003011 Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T020 Acquired Abnormality 4 BXGD008386 Ankylosis of the elbow joint C0409477 M24.629 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T047 Disease or Syndrome 7 BXGD008387 Protrusio acetabuli C0409495 M24.7 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 10 BXGD008388 Rheumatoid arthritis of ankle C0409635 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008389 Seropositive rheumatoid arthritis C0409651 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 30 BXGD008390 Seronegative rheumatoid arthritis C0409652 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD008391 Juvenile Chronic Polyarthritis C0409667 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD008392 Juvenile ankylosing spondylitis C0409675 M08.1 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD008393 Juvenile spondyloarthropathy C0409676 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD008394 Seronegative arthritis C0409679 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008395 Synovitis of knee C0409700 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008396 Chronic Infantile Neurological, Cutaneous, and Articular Syndrome C0409818 M04.2 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 30 BXGD008397 Rotator cuff tear arthropathy C0409860 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD008398 Osteoarthritis of ankle C0409931 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD008399 Idiopathic osteoarthritis C0409952 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 63 BXGD008400 Osteoarthritis, Knee C0409959 M17 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T047 Disease or Syndrome 368 BXGD008401 Lupus Erythematosus C0409974 L93.0 disease C23;C17;C20 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 558 BXGD008402 Neonatal Systemic lupus erythematosus C0409979 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 22 BXGD008403 Primary antiphospholipid syndrome C0409980 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 29 BXGD008404 Secondary antiphospholipid syndrome C0409983 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD008405 Undifferentiated Connective Tissue Diseases C0409999 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD008406 Overlap syndrome C0410000 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 57 BXGD008407 Nodular fasciitis C0410005 M72.4 disease C04;C05;C10 Neoplasms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 25 BXGD008408 Muscle damage C0410158 phenotype Acquired Abnormality T020 Acquired Abnormality 163 BXGD008409 Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) C0410173 disease C16;C05;C08;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD008410 Fukuyama Type Congenital Muscular Dystrophy C0410174 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 35 BXGD008411 Ullrich congenital muscular dystrophy 1 C0410179 disease C23;C16;C05;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 17 BXGD008412 Eichsfeld type congenital muscular dystrophy C0410180 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 10 BXGD008413 Muscular Dystrophy, Emery-Dreifuss C0410189 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 44 BXGD008414 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) C0410190 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 10 BXGD008415 Muscular Dystrophy, Scapulohumeral C0410192 G71.02 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0003011 Abnormality of the musculature DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD008416 Proximal myopathy C0410198 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD008417 X-linked centronuclear myopathy C0410203 G71.220 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 29 BXGD008418 Myopathy, Centronuclear, Autosomal Recessive C0410204 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 6 BXGD008419 Tubular Aggregate Myopathy C0410207 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 67 BXGD008420 Myopathy with Abnormal Lipid Metabolism C0410214 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD008421 Congenital Myotonic Dystrophy C0410226 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD008422 Traumatic rhabdomyolysis C0410257 T79.6 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD008423 Contracture of tendo achilles C0410264 disease Anatomical Abnormality HP:0040064;HP:0000924;HP:0003549;HP:0003011 Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T190 Anatomical Abnormality 32 BXGD008424 Contracture of hamstring(s) C0410266 disease C05 Musculoskeletal Diseases Acquired Abnormality HP:0000924;HP:0003549;HP:0003011 Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T020 Acquired Abnormality 6 BXGD008425 Defect of articular cartilage C0410334 disease Anatomical Abnormality T190 Anatomical Abnormality 2 BXGD008426 Chronic multifocal osteomyelitis C0410422 M86.3 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 34 BXGD008427 Primary osteoporosis C0410438 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 23 BXGD008428 Osteomalacia secondary to drug C0410445 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD008429 Avascular Necrosis of Femur Head C0410480 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 74 BXGD008430 Skeletal dysplasia C0410528 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 186 BXGD008431 Hypochondroplasia (disorder) C0410529 Q77.4 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 16 BXGD008432 Metachondromatosis C0410530 disease C16;C04;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD008433 Osteodysplasia C0410533 disease Congenital Abnormality T019 Congenital Abnormality 8 BXGD008434 Pseudoachondroplasia C0410538 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 19 BXGD008435 Craniodiaphyseal dysplasia C0410539 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD008436 Synovial Hypertrophy C0410574 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 12 BXGD008437 Cervical Disc Degenerative Disorder C0410606 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD008438 Prolapsed cervical intervertebral disc C0410619 phenotype Acquired Abnormality T020 Acquired Abnormality 2 BXGD008439 Prolapsed thoracic intervertebral disc C0410623 phenotype C08 Respiratory Tract Diseases Acquired Abnormality T020 Acquired Abnormality 2 BXGD008440 Schmorl's nodes C0410632 M51.4 disease C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 11 BXGD008441 Degenerative lumbar spinal stenosis C0410636 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD008442 Spinal instability C0410648 M53.2X disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 1 BXGD008443 Cervical spine instability C0410652 M53.2X2 disease Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 1 BXGD008444 Atlantoaxial instability C0410653 disease Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 7 BXGD008445 Instability of atlantooccipital joint C0410654 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD008446 Neuromuscular scoliosis C0410698 M41.4 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD008447 Adolescent idiopathic scoliosis C0410702 disease C05 Musculoskeletal Diseases Anatomical Abnormality T190 Anatomical Abnormality 656 BXGD008448 Deformity of bone C0410719 group C05 Musculoskeletal Diseases Anatomical Abnormality T190 Anatomical Abnormality 17 BXGD008449 Acquired deformity of finger C0410740 M20.0 disease C05 Musculoskeletal Diseases Acquired Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T020 Acquired Abnormality 5 BXGD008450 Hereditary Connective Tissue Disorder C0410787 group C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD008451 Prosthetic joint infection C0410808 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 12 BXGD008452 Neonatal Death C0410916 phenotype C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding T033 Finding 27 BXGD008453 Wide cranial sutures C0410935 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 10 BXGD008454 Fetal acidosis C0410959 disease C16;C18;C13 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 5 BXGD008455 Idiopathic anaphylaxis C0413235 disease C20 Immune System Diseases Disease or Syndrome HP:0002715 Abnormality of the immune system T047 Disease or Syndrome 1 BXGD008456 Neurological observations C0422837 group C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 6 BXGD008457 Seizures, Somatosensory C0422850 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function T046 Pathologic Function 102 BXGD008458 Seizures, Auditory C0422852 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function T046 Pathologic Function 102 BXGD008459 Olfactory seizure C0422853 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 102 BXGD008460 Gustatory seizure C0422854 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 102 BXGD008461 Vertiginous seizure C0422855 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 102 BXGD008462 CNS symptom C0422879 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD008463 Apraxia, Gestural C0422892 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD008464 Primitive reflex C0422895 phenotype Finding T033 Finding 14 BXGD008465 Visual symptoms C0422943 phenotype Sign or Symptom T184 Sign or Symptom 17 BXGD008466 Intermittent divergent squint C0423062 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD008467 Comitant heterophoria C0423063 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD008468 Hypometric saccades C0423082 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 13 BXGD008469 Hypermetric saccades C0423083 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 7 BXGD008470 Upward slant of palpebral fissure C0423109 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 216 BXGD008471 Downward slant of palpebral fissure C0423110 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 391 BXGD008472 Short palpebral fissure C0423112 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 91 BXGD008473 Telecanthus C0423113 phenotype C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 134 BXGD008474 Ptosis of eyebrow C0423122 H57.81 phenotype C23;C17;C10;C07 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T047 Disease or Syndrome 1 BXGD008475 Sunken eyes C0423224 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 171 BXGD008476 Corneal stromal opacities C0423250 phenotype C11 Eye Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 46 BXGD008477 Shallow anterior chamber of eye C0423276 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 13 BXGD008478 Heterochromia iridis C0423318 phenotype C23;C11;C17 Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 17 BXGD008479 Atrophic iris C0423319 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 9 BXGD008480 Iridodonesis C0423320 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 4 BXGD008481 Ectropion uveae C0423325 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 3 BXGD008482 Posterior Vitreous Detachment C0423361 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 9 BXGD008483 Absent foveal reflex C0423420 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 6 BXGD008484 Atrophic macular change C0423421 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 24 BXGD008485 Scarred macula C0423428 phenotype C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality HP:0000478;HP:0003549 Abnormality of the eye; Abnormality of connective tissue T020 Acquired Abnormality 4 BXGD008486 Subretinal exudate C0423431 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD008487 Cilioretinal artery (disorder) C0423461 disease C11;C10;C14 Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD008488 Opticociliary vessels C0423463 disease C14 Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD008489 Ear symptom C0423479 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD008490 Throbbing Headache C0423618 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 5 BXGD008491 Bilateral Headache C0423623 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 5 BXGD008492 Cardiac pain C0423636 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 2 BXGD008493 Sore nipple C0423637 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD008494 Right Flank Pain C0423640 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD008495 Pain in spine C0423673 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 12 BXGD008496 Low Back Pain, Mechanical C0423682 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 3 BXGD008497 Low Back Pain, Posterior Compartment C0423689 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 2 BXGD008498 Neuralgia, Perineal C0423711 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD008499 Neuralgia, Iliohypogastric Nerve C0423712 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD008500 Neurogenic pain C0423717 phenotype Sign or Symptom T184 Sign or Symptom 3 BXGD008501 Central post-stroke pain C0423719 phenotype Sign or Symptom T184 Sign or Symptom 9 BXGD008502 After pains C0423732 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 5 BXGD008503 Deep pain on intercourse C0423747 N94.12 disease C13;C12;F03 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 3 BXGD008504 Thin skin C0423757 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 77 BXGD008505 Cutaneous Fistula C0423772 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD008506 Scaly skin C0423773 phenotype Sign or Symptom T184 Sign or Symptom 4 BXGD008507 Scurfiness of scalp C0423775 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD008508 Palmar pit C0423776 phenotype Finding HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T033 Finding 4 BXGD008509 Maculopapular Lesion C0423791 phenotype C23;C17;C20 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases Finding HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T033 Finding 16 BXGD008510 Increased tendency to bruise C0423798 phenotype C26 Wounds and Injuries Finding HP:0001574;HP:0001871;HP:0001626 Abnormality of the integument; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T033 Finding 133 BXGD008511 Overcurvature of nail C0423807 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 9 BXGD008512 Brachyonychia C0423808 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 11 BXGD008513 Splits in nails (finding) C0423813 phenotype Sign or Symptom T184 Sign or Symptom 8 BXGD008514 Ridged nails C0423820 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 22 BXGD008515 Thin nails C0423823 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001574 Abnormality of the integument T033 Finding 10 BXGD008516 Distichiasis C0423848 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Anatomical Abnormality HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T190 Anatomical Abnormality 10 BXGD008517 Fine hair C0423867 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 69 BXGD008518 Hallucinations, Hypnapompic C0424082 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 3 BXGD008519 Inattention C0424101 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 66 BXGD008520 Anxiety and fear C0424139 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 51 BXGD008521 Social Anxiety C0424166 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 57 BXGD008522 Motor retardation C0424230 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding HP:0000707 Abnormality of the nervous system T033 Finding 98 BXGD008523 Compulsive hoarding C0424290 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 14 BXGD008524 Hyperactive behavior C0424295 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 1263 BXGD008525 Social disinhibition C0424296 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 56 BXGD008526 Inappropriate laughter C0424304 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 7 BXGD008527 Physical aggression C0424323 R45.6 phenotype F01 Behavior and Behavior Mechanisms Individual Behavior HP:0000707 Abnormality of the nervous system T055 Individual Behavior 2 BXGD008528 Biting self C0424375 phenotype F01 Behavior and Behavior Mechanisms Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD008529 Mask-like facies C0424448 phenotype C10 Nervous System Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 64 BXGD008530 Chapping of lips C0424489 phenotype C07 Stomatognathic Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 1 BXGD008531 Coarse features C0424492 phenotype Finding T033 Finding 2 BXGD008532 Dysmorphic facies C0424503 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 271 BXGD008533 Impaired exercise tolerance C0424551 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 76 BXGD008534 Duration of sleep C0424574 phenotype Finding T033 Finding 104 BXGD008535 Developmental delay (disorder) C0424605 phenotype F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 584 BXGD008536 Body Fat Distribution C0424621 phenotype Finding T033 Finding 90 BXGD008537 Lean body mass C0424678 phenotype Clinical Attribute T201 Clinical Attribute 144 BXGD008538 Small head C0424688 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 11 BXGD008539 Asymmetrical skull C0424690 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 5 BXGD008540 Broad skull C0424693 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 3 BXGD008541 Orbital separation diminished C0424711 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 89 BXGD008542 Single transverse palmar crease C0424731 phenotype C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T033 Finding 78 BXGD008543 Rigor - Temperature-associated observation C0424790 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 24 BXGD008544 Periorbital swelling C0424810 phenotype C17;C20;C14 Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Sign or Symptom HP:0001939;HP:0000152 Abnormality of metabolism/homeostasis; Abnormality of head or neck T184 Sign or Symptom 2 BXGD008545 Learning difficulties C0424939 phenotype Finding T033 Finding 6 BXGD008546 Gasping for breath C0425449 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom T184 Sign or Symptom 8 BXGD008547 Sighing respiration C0425481 R06.89 phenotype Sign or Symptom T184 Sign or Symptom 4 BXGD008548 Irregular breathing C0425492 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 1 BXGD008549 Sexual symptom C0425722 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD008550 Premature development of the breasts C0425772 E30.8 phenotype C19 Endocrine System Diseases Finding HP:0000818 Abnormality of the endocrine system T033 Finding 7 BXGD008551 Breast size C0425782 phenotype Finding T033 Finding 16 BXGD008552 Peau d'orange surface of breast C0425791 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Sign or Symptom HP:0001939 Abnormality of metabolism/homeostasis T184 Sign or Symptom 3 BXGD008553 Absent nipple (finding) C0425795 phenotype Finding HP:0000769 Abnormality of the breast T033 Finding 7 BXGD008554 Uterus absent (finding) C0425913 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 10 BXGD008555 Secondary amenorrhea C0425957 phenotype C23 Pathological Conditions, Signs and Symptoms Finding T033 Finding 49 BXGD008556 amniotic fluid meconium stained C0426209 phenotype Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 4 BXGD008557 Absent scrotum C0426320 disease Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 2 BXGD008558 Urinary symptoms C0426359 phenotype Sign or Symptom T184 Sign or Symptom 10 BXGD008559 Urine looks dark C0426396 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 6 BXGD008560 Large nose C0426415 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 70 BXGD008561 Wide nose C0426421 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 87 BXGD008562 Narrow nose C0426422 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 17 BXGD008563 Bifid nasal tip C0426428 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 10 BXGD008564 Broad nasal tip C0426429 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 125 BXGD008565 Drooping nasal tip C0426430 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 3 BXGD008566 Pinched nasal tip C0426433 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD008567 Narrow nostrils C0426439 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 3 BXGD008568 Large nostrils C0426440 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 4 BXGD008569 Gingival cleft C0426489 phenotype C07 Stomatognathic Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 3 BXGD008570 Short frenulum of tongue C0426501 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 6 BXGD008571 Gastrointestinal symptom C0426576 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 69 BXGD008572 Swallowing symptoms C0426601 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD008573 Urgent desire for stool C0426636 R15.2 phenotype C06 Digestive System Diseases Sign or Symptom HP:0025031 Abnormality of the digestive system T184 Sign or Symptom 3 BXGD008574 Absent kidney C0426706 phenotype Finding T033 Finding 1 BXGD008575 Torticollis, Intermittent C0426785 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD008576 Short thorax C0426789 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 51 BXGD008577 Narrow thorax C0426790 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 112 BXGD008578 Congenital hypoplasia of clavicle C0426799 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 28 BXGD008579 Broad clavicle C0426801 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 9 BXGD008580 Hooked clavicle C0426805 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 14 BXGD008581 Short clavicle C0426807 phenotype Finding T033 Finding 26 BXGD008582 Long clavicle C0426808 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 10 BXGD008583 Pseudoarthrosis of clavicle C0426811 phenotype C26 Wounds and Injuries Finding HP:0000924 Abnormality of the skeletal system T033 Finding 5 BXGD008584 Absence of rib C0426816 phenotype Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 18 BXGD008585 Short ribs C0426817 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 60 BXGD008586 Thin rib C0426818 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 42 BXGD008587 Thick rib C0426820 phenotype C05 Musculoskeletal Diseases Finding HP:0000924 Abnormality of the skeletal system T033 Finding 6 BXGD008588 Beading of ribs C0426824 disease Finding HP:0000924 Abnormality of the skeletal system T033 Finding 7 BXGD008589 Gap in ribs C0426827 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD008590 Sacral dimple C0426848 L05.91 phenotype C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding HP:0001574;HP:0000924 Abnormality of the integument; Abnormality of the skeletal system T033 Finding 69 BXGD008591 Absence of hand C0426868 phenotype Finding T033 Finding 18 BXGD008592 Large hand C0426870 phenotype Finding HP:0040064 Abnormality of limbs T033 Finding 35 BXGD008593 Trident hand C0426874 phenotype C05 Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD008594 Tapering fingers (finding) C0426886 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 91 BXGD008595 Broad thumbs C0426891 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 67 BXGD008596 Tibial torsion C0426900 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 12 BXGD008597 Short leg C0426901 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 7 BXGD008598 Spastic Quadriplegia C0426970 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T047 Disease or Syndrome 86 BXGD008599 Motor symptoms C0426980 phenotype Sign or Symptom T184 Sign or Symptom 100 BXGD008600 Ankle stiff C0427032 phenotype Sign or Symptom HP:0000924 Abnormality of the skeletal system T184 Sign or Symptom 2 BXGD008601 Facial Paresis C0427055 R29.810 phenotype C23;C10;C07 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Sign or Symptom HP:0000707;HP:0000152;HP:0003011 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculature T184 Sign or Symptom 44 BXGD008602 Shoulder girdle weakness C0427063 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 39 BXGD008603 Pelvic girdle weakness C0427064 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 16 BXGD008604 Distal muscle weakness C0427065 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 117 BXGD008605 Involuntary Movements C0427086 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 37 BXGD008606 Rapid Fatigue of Gait C0427128 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 4 BXGD008607 Toe-walking gait C0427144 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 50 BXGD008608 Gait, Drop Foot C0427149 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 51 BXGD008609 Marche a Petit Pas C0427169 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 4 BXGD008610 Gait, Hysterical C0427177 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 4 BXGD008611 Ataxia, Truncal C0427190 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 68 BXGD008612 Floppy Muscles C0427201 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 6 BXGD008613 Muscle Tone Atonic C0427202 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 6 BXGD008614 Folic acid measurement, RBC C0427418 phenotype Laboratory Procedure T059 Laboratory Procedure 2 BXGD008615 MCH - low C0427437 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 5 BXGD008616 Red cell distribution width determination C0427460 phenotype Laboratory Procedure T059 Laboratory Procedure 593 BXGD008617 Elliptocytosis found C0427480 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 12 BXGD008618 Finding of bite cells C0427483 phenotype Finding T033 Finding 1 BXGD008619 Neutrophil abnormality C0427515 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 74 BXGD008620 Increased blood monocyte number C0427543 phenotype Laboratory or Test Result T034 Laboratory or Test Result 8 BXGD008621 Leucine measurement C0428209 phenotype Laboratory Procedure T059 Laboratory Procedure 2 BXGD008622 Methionine measurement C0428210 phenotype Laboratory Procedure T059 Laboratory Procedure 3 BXGD008623 Finding of creatinine level C0428279 phenotype Finding T033 Finding 5 BXGD008624 Serum creatinine low C0428282 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 4 BXGD008625 Calcium level result C0428302 phenotype Laboratory or Test Result T034 Laboratory or Test Result 14 BXGD008626 Measurement of liver enzyme C0428321 phenotype Laboratory Procedure T059 Laboratory Procedure 7 BXGD008627 Human chorionic gonadotropin measurement C0428402 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD008628 Triiodothyronine measurement C0428419 phenotype Laboratory Procedure T059 Laboratory Procedure 6 BXGD008629 Serum lipids high (finding) C0428465 phenotype Finding T033 Finding 7 BXGD008630 Serum HDL cholesterol measurement C0428472 phenotype Laboratory Procedure T059 Laboratory Procedure 283 BXGD008631 Serum LDL cholesterol measurement C0428474 phenotype Laboratory Procedure T059 Laboratory Procedure 269 BXGD008632 Serum transferrin measurement C0428545 phenotype Laboratory Procedure T059 Laboratory Procedure 6 BXGD008633 Fasting blood glucose measurement C0428568 phenotype Laboratory Procedure T059 Laboratory Procedure 96 BXGD008634 Iron level result C0428578 phenotype Laboratory or Test Result T034 Laboratory or Test Result 12 BXGD008635 Aortic valve calcification C0428791 disease C18;C14 Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000924;HP:0001626 Abnormality of the skeletal system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 79 BXGD008636 Senile sclerosis of aortic cusp C0428796 disease Disease or Syndrome T047 Disease or Syndrome 19 BXGD008637 Dilatation of pulmonary artery, unspecified C0428851 disease Disease or Syndrome HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system T047 Disease or Syndrome 2 BXGD008638 Right to left cardiovascular shunt (finding) C0428871 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 3 BXGD008639 Diastolic blood pressure C0428883 phenotype Clinical Attribute T201 Clinical Attribute 507 BXGD008640 Mean blood pressure C0428886 phenotype Finding T033 Finding 146 BXGD008641 Sinus Node Dysfunction (disorder) C0428908 I49.8 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 40 BXGD008642 Supraventricular arrhythmia C0428974 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 19 BXGD008643 Supraventricular Arrhythmia by ECG Finding C0428975 phenotype Laboratory or Test Result T034 Laboratory or Test Result 11 BXGD008644 Bradycardia C0428977 R00.1 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 63 BXGD008645 P wave duration (observable entity) C0429021 phenotype Clinical Attribute T201 Clinical Attribute 10 BXGD008646 QT interval feature (observable entity) C0429028 phenotype Clinical Attribute T201 Clinical Attribute 75 BXGD008647 Electrocardiogram: P-R interval C0429087 phenotype Finding T033 Finding 57 BXGD008648 QRS complex feature C0429097 phenotype Finding T033 Finding 41 BXGD008649 Gastrointestinal sensation C0429219 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD008650 EMG positive sharp waves C0429349 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 2 BXGD008651 Anovulatory (finding) C0429468 disease C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 55 BXGD008652 Depth of anterior chamber of eye C0429492 phenotype Finding T033 Finding 1 BXGD008653 Ocular axial length C0429494 phenotype Clinical Attribute T201 Clinical Attribute 4 BXGD008654 Respiratory quotient C0429702 phenotype Clinical Attribute T201 Clinical Attribute 3 BXGD008655 Susceptibility to tuberculosis C0429908 phenotype Finding T033 Finding 1 BXGD008656 Malignant melanoma - category C0431097 group Neoplastic Process T191 Neoplastic Process 2 BXGD008657 Anaplastic Oligoastrocytoma C0431108 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 7 BXGD008658 Choroid Plexus Carcinoma C0431109 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 34 BXGD008659 Rhabdomyosarcoma with ganglionic differentiation C0431111 disease C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD008660 Anaplastic ganglioglioma C0431112 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD008661 Clear Cell Meningioma C0431121 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 14 BXGD008662 Atypical meningioma C0431122 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 9 BXGD008663 Cellular Schwannoma C0431124 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD008664 Papillary craniopharyngioma C0431128 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 65 BXGD008665 Adamantinous Craniopharyngioma C0431129 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 48 BXGD008666 Malignant lymphoma, stem cell type C0431132 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD008667 Abnormality of neurogenesis C0431347 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD008668 Primary microcephaly C0431350 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 39 BXGD008669 Secondary microcephaly C0431352 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 13 BXGD008670 Lobar Holoprosencephaly C0431362 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 37 BXGD008671 Alobar Holoprosencephaly C0431363 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system DOID:630;DOID:7;DOID:225;DOID:0080015 genetic disease; disease of anatomical entity; syndrome; physical disorder T019 Congenital Abnormality 16 BXGD008672 Congenital malformation of corpus callosum C0431366 Q04.0 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 9 BXGD008673 Partial agenesis of corpus callosum C0431368 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 38 BXGD008674 Dysgenesis of corpus callosum C0431369 disease Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 25 BXGD008675 Atrophy of corpus callosum C0431370 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 21 BXGD008676 Absence of septum pellucidum C0431371 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 84 BXGD008677 Classical Lissencephaly C0431375 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T047 Disease or Syndrome 25 BXGD008678 Cobblestone Lissencephaly C0431376 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 23 BXGD008679 Nodular heterotopia C0431378 disease C10 Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD008680 Cortical Dysplasia C0431380 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 118 BXGD008681 Colpocephaly C0431384 disease C10 Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 17 BXGD008682 Microdysgenesis C0431388 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 6 BXGD008683 Hemimegalencephaly C0431391 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 39 BXGD008684 Familial aplasia of the vermis C0431399 disease C16;C13;C11;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 95 BXGD008685 Gillespie syndrome C0431401 disease C23;C16;C11;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 4 BXGD008686 Asymmetric crying face association C0431406 disease C23;C10;C07 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 25 BXGD008687 Sacral dysgenesis C0431414 disease Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 3 BXGD008688 Vein of Galen aneurysm C0431420 disease C16;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system T047 Disease or Syndrome 6 BXGD008689 Anomalies of cerebrum C0431427 group C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD008690 Synophrys C0431447 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T019 Congenital Abnormality 111 BXGD008691 Absent eyebrow C0431448 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T019 Congenital Abnormality 19 BXGD008692 Posteriorly rotated ear C0431478 disease Congenital Abnormality HP:0000598 Abnormality of the ear T019 Congenital Abnormality 176 BXGD008693 Laryngeal hypoplasia C0431527 Q31.2 disease Congenital Abnormality HP:0002086 Abnormality of the respiratory system T019 Congenital Abnormality 7 BXGD008694 Lobulated tongue C0431564 disease Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 14 BXGD008695 Hamartoma of tongue C0431565 phenotype C04;C07 Neoplasms; Stomatognathic Diseases Finding HP:0002664;HP:0000152 Neoplasm; Abnormality of head or neck T033 Finding 18 BXGD008696 Ectopic liver C0431603 disease Congenital Abnormality HP:0025031 Abnormality of the digestive system T019 Congenital Abnormality 1 BXGD008697 Mullerian aplasia C0431637 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality T019 Congenital Abnormality 10 BXGD008698 Vaginal septum C0431649 disease Congenital Abnormality T019 Congenital Abnormality 2 BXGD008699 Hypoplasia of scrotum C0431659 phenotype Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 57 BXGD008700 Bilateral Cryptorchidism C0431663 Q53.2 disease C16;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 48 BXGD008701 Unilateral Cryptorchidism C0431664 Q53.1 disease C16;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 17 BXGD008702 Webbed penis C0431670 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 2 BXGD008703 Bilateral renal hypoplasia C0431692 Q60.4 disease Congenital Abnormality HP:0000119 Abnormality of the genitourinary system DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 8 BXGD008704 Renal cysts and diabetes syndrome C0431693 disease C18;C13;C12;C10;C19 Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD008705 Oligomeganephronic hypoplasia of kidney C0431694 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD008706 Adult type polycystic kidney disease type 1 C0431709 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 1 BXGD008707 Nephronophthisis - medullary cystic disease C0431716 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 2 BXGD008708 Multiple renal cysts C0431718 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 46 BXGD008709 Carpal synostosis C0431863 disease Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 15 BXGD008710 Thumb in palm deformity C0431886 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 3 BXGD008711 Hitch-hiker thumb C0431887 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 3 BXGD008712 Hypoplasia of thumb C0431890 disease C05 Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 49 BXGD008713 Ulnar polydactyly of fingers C0431904 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 92 BXGD008714 Split foot C0432028 Q72.7 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 21 BXGD008715 Simple syndactyly of toes, first web space C0432040 disease Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 5 BXGD008716 Simple syndactyly of fingers - first web C0432055 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 9 BXGD008717 Congenital malformation syndromes affecting facial appearance C0432066 Q87.0 disease Congenital Abnormality DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T019 Congenital Abnormality 2 BXGD008718 Dysmorphic features C0432072 disease Congenital Abnormality T019 Congenital Abnormality 439 BXGD008719 Defect of skull ossification C0432073 group Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 23 BXGD008720 Cleft of hard palate C0432090 Q35.1 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck DOID:225;DOID:0080015 syndrome; physical disorder T019 Congenital Abnormality 4 BXGD008721 Cleft Soft Palate C0432098 Q35.3 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck DOID:225;DOID:0080015 syndrome; physical disorder T019 Congenital Abnormality 13 BXGD008722 Submucous cleft of hard palate C0432103 disease C16;C08;C07;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 55 BXGD008723 Interfrontal craniofaciosynostosis C0432122 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 7 BXGD008724 Sagittal craniosynostosis C0432123 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 35 BXGD008725 Unicoronal craniosynostosis C0432124 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 2 BXGD008726 Bicoronal craniosynostosis C0432125 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD008727 Lumbar hemivertebra C0432149 disease Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 1 BXGD008728 Thoracic hemivertebra C0432152 disease Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 2 BXGD008729 Defect of vertebral segmentation C0432163 disease C05 Musculoskeletal Diseases Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 40 BXGD008730 Aplasia of muscle C0432185 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0003011 Abnormality of the musculature T019 Congenital Abnormality 13 BXGD008731 Schneckenbecken dysplasia C0432194 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD008732 Short rib dysplasia C0432195 Q77.2 disease C05;C08 Musculoskeletal Diseases; Respiratory Tract Diseases Congenital Abnormality DOID:630 genetic disease T019 Congenital Abnormality 5 BXGD008733 Short rib-polydactyly syndrome, Verma-Naumoff type C0432197 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 6 BXGD008734 Short rib-polydactyly syndrome, Beemer type C0432198 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 6 BXGD008735 Boomerang dysplasia C0432201 disease C23;C16;C05;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD008736 Dyssegmental dysplasia, Rolland-Desbuquois type C0432209 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008737 Spondyloepimetaphyseal disorder C0432211 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 37 BXGD008738 Namaqualand hip dysplasia C0432214 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008739 Progressive pseudorheumatoid dysplasia C0432215 disease C05 Musculoskeletal Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 64 BXGD008740 Wolcott-Rallison syndrome C0432217 disease C16;C18;C05;C20;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 10 BXGD008741 Opsismodysplasia C0432219 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008742 Spondylometaphyseal dysplasia, 'corner fracture' type C0432221 disease C23;C16;C05;C26 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 2 BXGD008743 Metaphyseal chondrodysplasia Spahr type C0432225 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008744 Metaphyseal anadysplasia C0432226 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008745 Brachyolmia Type 3 C0432227 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 1 BXGD008746 Brachyolmia C0432228 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD008747 Langer Mesomelic Dysplasia Syndrome C0432230 disease C23;C16;C05 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD008748 CRANIOECTODERMAL DYSPLASIA 1 C0432235 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 10 BXGD008749 Bent bone dysplasia C0432238 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD008750 Kyphomelic dysplasia C0432239 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008751 Stuve-Wiedemann dysplasia C0432240 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD008752 Desbuquois syndrome C0432242 disease C23;C16;C05;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD008753 Spondyloepimetaphyseal Dysplasia With Joint Laxity C0432243 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 4 BXGD008754 Microcephalic Osteodysplastic Primordial Dwarfism, Type II C0432246 disease C23;C16;C13;C05;C10;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 2 BXGD008755 Osteoporosis with pseudoglioma C0432252 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 12 BXGD008756 Bruck syndrome C0432253 disease Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 6 BXGD008757 Singleton Merten syndrome C0432254 disease C16;C18;C05;C10;C07;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD008758 Geroderma osteodysplastica C0432255 disease C16;C17;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD008759 Osteopetrosis - intermediate type C0432261 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD008760 Dysosteosclerosis C0432262 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD008761 Van Buchem disease C0432272 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 24 BXGD008762 Pseudochondroplasia C0432281 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD008763 Dysplasia epiphysealis hemimelica C0432282 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008764 Osteoglophonic dwarfism C0432283 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 100 BXGD008765 Infantile myofibromatosis C0432284 disease C04 Neoplasms Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 18 BXGD008766 Winchester syndrome (disorder) C0432289 disease C23;C16;C18;C11;C05 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008767 Mandibuloacral dysostosis C0432291 disease C18;C17;C05 Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD008768 Familial expansile osteolysis C0432292 disease C05 Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 5 BXGD008769 Autosomal dominant ichthyosis vulgaris C0432300 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD008770 Ichthyosis Bullosa of Siemens C0432306 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 37 BXGD008771 Ichthyosis hystrix of Curth-Macklin C0432307 disease Congenital Abnormality T019 Congenital Abnormality 2 BXGD008772 Epidermolysis bullosa simplex herpetiformis C0432315 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD008773 Epidermolysis bullosa simplex with mottled pigmentation C0432316 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 5 BXGD008774 Epidermolysis bullosa simplex, Ogna type C0432317 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD008775 Epidermolysis bullosa, pretibial C0432321 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality HP:0001574 Abnormality of the integument T019 Congenital Abnormality 3 BXGD008776 Xeroderma pigmentosum, variant form C0432328 disease C16;C04;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 1 BXGD008777 Erythrokeratoderma C0432330 disease C17 Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 10 BXGD008778 Abnormal dermatoglyphic pattern C0432333 Q82.8 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality HP:0001574 Abnormality of the integument DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 44 BXGD008779 Uncombable hair syndrome C0432347 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD008780 Hypoplasia of nipple C0432355 disease Congenital Abnormality HP:0000769 Abnormality of the breast T019 Congenital Abnormality 33 BXGD008781 Congenital absence of breast with absent nipple C0432357 Q83.0 disease C17 Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD008782 Neurofibromatosis type 5 C0432360 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD008783 Shagreen patch C0432363 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Congenital Abnormality HP:0001574;HP:0003549 Abnormality of the integument; Abnormality of connective tissue T019 Congenital Abnormality 8 BXGD008784 Thalidomide embryopathy syndrome C0432365 disease C23;C16;C13 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality T019 Congenital Abnormality 8 BXGD008785 Trisomy 12 C0432408 phenotype C23;C16;C04;C20;C15 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 76 BXGD008786 Trisomy 11 C0432409 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 17 BXGD008787 Chromosome 9, trisomy C0432411 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 12 BXGD008788 Down Syndrome, Partial Trisomy 21 C0432416 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD008789 Trisomy 21, Meiotic Nondisjunction C0432417 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD008790 Chromosome 18p deletion syndrome C0432442 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD008791 Deletion of long arm of chromosome 18 C0432443 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 6 BXGD008792 46, XY female C0432470 Q97.3 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 25 BXGD008793 Klinefelter's syndrome - male with more than two X chromosomes C0432474 Q98.1 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality T019 Congenital Abnormality 90 BXGD008794 XX males C0432475 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 32 BXGD008795 Fragile X chromosome C0432482 Q99.2 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality DOID:630 genetic disease T019 Congenital Abnormality 1 BXGD008796 Post-transplant lymphoproliferative disorder C0432487 D47.Z1 disease C01;C20;C15 Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 22 BXGD008797 Desmoplastic trichoepithelioma C0432526 disease Neoplastic Process T191 Neoplastic Process 3 BXGD008798 Proliferative fasciitis C0432528 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD008799 Malignant lymphoma of spleen C0432562 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD008800 Varus angulation C0432593 disease C05 Musculoskeletal Diseases Anatomical Abnormality T190 Anatomical Abnormality 6 BXGD008801 Noise-induced temporary threshold shift C0433992 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008802 Myoclonic Encephalopathy C0438414 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD008803 Scotoma, Ring C0438434 H53.45 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T184 Sign or Symptom 2 BXGD008804 Dermatoglyphs - skin lines C0438644 disease Congenital Abnormality T019 Congenital Abnormality 3 BXGD008805 Suicidal C0438696 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 93 BXGD008806 Chest pressure C0438716 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD008807 Back Pain without Radiation C0438921 phenotype C23 Pathological Conditions, Signs and Symptoms Finding T033 Finding 1 BXGD008808 Fatigue - symptom C0439053 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 5 BXGD008809 Hormone measurement C0441683 group Laboratory Procedure T059 Laboratory Procedure 51 BXGD008810 Visual acuity, no light perception C0442774 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD008811 Arteriolar hyalinosis C0442833 disease Acquired Abnormality T020 Acquired Abnormality 7 BXGD008812 Corneal epithelial loss C0442843 disease Acquired Abnormality T020 Acquired Abnormality 1 BXGD008813 Microinvasive carcinoma C0442871 disease Neoplastic Process T191 Neoplastic Process 10 BXGD008814 Neuropathy C0442874 G62.9 group C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 484 BXGD008815 Occult carcinoma C0442876 disease Neoplastic Process T191 Neoplastic Process 2 BXGD008816 Septal hypertrophy C0442887 disease Acquired Abnormality T020 Acquired Abnormality 12 BXGD008817 Spastic C0443306 disease C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 13 BXGD008818 Nephrotic range proteinuria C0445118 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 7 BXGD008819 Thickening of glomerular basement membrane C0445347 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 7 BXGD008820 Carrier status C0449439 phenotype Finding T033 Finding 3 BXGD008821 Urolithiasis C0451641 N20-N23 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 72 BXGD008822 Neuropathy in association with hereditary ataxia C0451669 G60.2 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD008823 Severe combined immunodeficiency with low T- and B-cell numbers C0451693 D81.1 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD008824 Severe combined immunodeficiency with low or normal B-cell numbers C0451694 D81.2 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD008825 Non-obstructive reflux-associated chronic pyelonephritis (disorder) C0451718 N11.0 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 13 BXGD008826 Nephrotic syndrome, focal and segmental glomerular lesions C0451720 N04.1 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD008827 Dietary selenium deficiency C0451817 E59 phenotype Disease or Syndrome T047 Disease or Syndrome 5 BXGD008828 Simple obesity C0451819 E66.0 disease C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 9 BXGD008829 Erosive osteoarthrosis C0451840 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD008830 Conductive hearing loss, bilateral C0452136 H90.0 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000598 Abnormality of the ear T047 Disease or Syndrome 4 BXGD008831 Sensorineural hearing loss, bilateral C0452138 H90.3 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000598 Abnormality of the ear DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 117 BXGD008832 Hypospadias, penoscrotal C0452147 Q54.2 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 9 BXGD008833 Hypospadias, perineal C0452148 Q54.3 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 8 BXGD008834 Osteomyelitis of vertebra C0452221 M46.20 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008835 Mirror movements disorder C0454455 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 39 BXGD008836 Acquired Language Disorders C0454560 group C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD008837 Transcortical sensory dysphasia C0454568 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD008838 Aphasia, Mixed C0454576 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD008839 Receptive aphasia (finding) C0454578 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD008840 Semantic impairment C0454582 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD008841 Motor speech disorder C0454595 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD008842 Dysarthria, Spastic C0454596 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 30 BXGD008843 Dysarthria, Flaccid C0454597 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD008844 Dysarthria, Mixed C0454598 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 2 BXGD008845 Extrapyramidal dysarthria C0454600 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008846 Oral Dyskinesia C0454606 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD008847 Apraxia, Oral C0454608 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD008848 Expressive language delay C0454641 phenotype Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 30 BXGD008849 Receptive language delay C0454642 disease Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 9 BXGD008850 Delayed speech and language development C0454644 phenotype F01 Behavior and Behavior Mechanisms Finding HP:0000707 Abnormality of the nervous system T033 Finding 560 BXGD008851 Specific language impairment C0454651 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 34 BXGD008852 Semantic-Pragmatic Disorder C0454655 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 11 BXGD008853 Serum urea measurement C0455273 phenotype Laboratory Procedure T059 Laboratory Procedure 5 BXGD008854 Serum selenium measurement C0455308 phenotype Laboratory Procedure T059 Laboratory Procedure 5 BXGD008855 H/O: depression C0455503 phenotype Finding T033 Finding 2 BXGD008856 Knight's move in thought C0455731 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD008857 Small scrotum C0455792 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 3 BXGD008858 Infant length C0455806 phenotype Finding T033 Finding 10 BXGD008859 Waist Circumference C0455829 phenotype Clinical Attribute T201 Clinical Attribute 70 BXGD008860 Hydrops Fetalis, Non-Immune C0455988 disease C23;C16;C13;C20;C15 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001939;HP:0001197 Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth T047 Disease or Syndrome 51 BXGD008861 Transient neonatal renal tubular acidosis C0456042 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008862 Infant, Extremely Low Birth Weight C0456065 phenotype Disease or Syndrome T047 Disease or Syndrome 15 BXGD008863 Growth delay C0456070 phenotype Pathologic Function HP:0001507 Growth abnormality T046 Pathologic Function 244 BXGD008864 Intrapartum fetal hypoxia C0456086 disease C23;C16;C13 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 1 BXGD008865 Congenital viral disease C0456097 P35.9 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD008866 Sepsis of the newborn C0456103 disease C23;C16;C01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections Disease or Syndrome HP:0002715 Abnormality of the immune system T047 Disease or Syndrome 53 BXGD008867 Neonatal meningitis C0456107 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD008868 Neonatal rickets C0456126 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008869 Large fontanelle C0456132 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 77 BXGD008870 Cerebral dysgenesis C0456144 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD008871 Peritoneal dialysis-associated peritonitis C0456239 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD008872 Simple Endometrial Hyperplasia C0456483 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 8 BXGD008873 Peutz Jehgers polyp C0456487 disease Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 1 BXGD008874 Sleep Paralysis C0456511 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 11 BXGD008875 Severe childhood autosomal recessive muscular dystrophy C0456702 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD008876 Light chain myeloma C0456844 disease C04;C20;C15;C14 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD008877 Cutaneous/peripheral T-cell lymphoma C0456860 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD008878 Low grade B-cell lymphoma C0456861 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 17 BXGD008879 High grade B-cell lymphoma C0456863 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 14 BXGD008880 High grade T-cell lymphoma C0456877 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD008881 Enteropathy-Associated T-Cell Lymphoma C0456889 C86.2 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 39 BXGD008882 Primary pulmonary hypoplasia C0456891 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD008883 Blindness C0456909 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 393 BXGD008884 Muscle eye brain disease C0457133 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD008885 Desmoplastic infantile astrocytoma C0457179 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD008886 Xanthomatous Meningioma C0457190 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 12 BXGD008887 Soft tissue mass C0457193 phenotype Anatomical Abnormality T190 Anatomical Abnormality 12 BXGD008888 Acute monoblastic leukemia C0457334 C93.0 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 37 BXGD008889 Reactive thrombocytosis C0457506 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD008890 Unicystic ameloblastoma C0457521 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 9 BXGD008891 Juvenile ossifying fibroma C0457522 disease C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD008892 Plexiform ameloblastoma C0457529 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD008893 Acanthomatous ameloblastoma C0457531 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD008894 Desmoplastic ameloblastoma C0457533 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD008895 Peripheral ameloblastoma C0457536 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD008896 Mural unicystic ameloblastoma C0457540 disease Neoplastic Process T191 Neoplastic Process 1 BXGD008897 Tooth absent C0457756 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 5 BXGD008898 Bent bone dysplasia group C0457928 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD008899 Chronic low back pain C0457949 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 43 BXGD008900 Acute low back pain C0457950 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 6 BXGD008901 Cervicogenic Headache C0458101 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD008902 Total body pain syndrome C0458118 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD008903 Complex Regional Pain Syndromes C0458219 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 47 BXGD008904 Allodynia C0458247 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0025142 Constitutional symptom T033 Finding 84 BXGD008905 Pain, Splitting C0458257 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 50 BXGD008906 Pain, Crushing C0458259 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 50 BXGD008907 Site-specific infective disorders of skin C0458385 group C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD008908 Performance anxiety C0458631 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD008909 Peripheral neuropathic pain C0458960 phenotype Sign or Symptom T184 Sign or Symptom 24 BXGD008910 Posterior Circulation Transient Ischemic Attack C0472381 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD008911 Subarachnoid Hemorrhage, Spontaneous C0472383 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function T046 Pathologic Function 8 BXGD008912 Progressive post hemorrhagic ventricular dilatation C0472386 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD008913 Vasogenic Cerebral Edema C0472387 phenotype C10 Nervous System Diseases Pathologic Function T046 Pathologic Function 8 BXGD008914 Cytotoxic Cerebral Edema C0472388 phenotype C10 Nervous System Diseases Pathologic Function T046 Pathologic Function 8 BXGD008915 High altitude cerebral edema C0472390 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD008916 Homozygous alpha thalassemia C0472761 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD008917 Alpha trait thalassemia C0472762 D56.3 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD008918 Beta thalassemia intermedia C0472767 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 37 BXGD008919 Gamma thalassemia C0472772 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008920 Hemoglobin E/beta thalassemia disease C0472777 D56.5 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD008921 Chronic non-spherocytic hemolytic anemia C0472790 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD008922 Hemolytic anemia due to hexokinase deficiency C0472792 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008923 Hemophilia A carrier C0472801 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD008924 Hereditary factor VIII deficiency disease with inhibitor C0472802 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD008925 Hypodysfibrinogenemia C0472803 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD008926 X-linked agammaglobulinemia with growth hormone deficiency C0472813 disease C16;C05;C20;C10;C19;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 13 BXGD008927 Autosomal agammaglobulinemia with absent B-cells C0472814 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008928 WHIM syndrome C0472817 disease C16;C01;C17;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 10 BXGD008929 Ischemic hepatitis C0473117 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008930 Physiological hyperbilirubinemia (disorder) C0473118 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 1 BXGD008931 Fecal peritonitis C0473119 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD008932 Protracted diarrhea C0473133 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 14 BXGD008933 Renal hypouricemia C0473219 disease C23;C16;C18;C13;C12 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD008934 Cryoglobulinemic glomerulonephritis C0473221 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008935 Aluminum intoxication C0473223 disease C25 Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD008936 Frank hematuria C0473237 R31.0 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 9 BXGD008937 Hemorrhagic cyst of ovary C0473311 phenotype C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Acquired Abnormality HP:0000119 Abnormality of the genitourinary system T020 Acquired Abnormality 2 BXGD008938 Lactational amenorrhea C0473315 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD008939 Hypoalphalipoproteinemias C0473527 E78.6 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 20 BXGD008940 Vibratory angioedema C0473546 disease C17;C20;C14 Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD008941 Inflammatory linear verrucous epidermal nevus C0473574 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD008942 Acantholytic Dyskeratotic Epidermal Nevus C0473575 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD008943 Eccrine nevus C0473577 disease Neoplastic Process T191 Neoplastic Process 1 BXGD008944 Porokeratotic eccrine ostial and dermal duct nevus C0473579 disease Neoplastic Process T191 Neoplastic Process 1 BXGD008945 Hair follicle nevus C0473582 disease Neoplastic Process T191 Neoplastic Process 1 BXGD008946 Nevus elasticus C0473583 disease C04 Neoplasms Neoplastic Process DOID:630;DOID:7 genetic disease; disease of anatomical entity T191 Neoplastic Process 37 BXGD008947 Michelin tire baby syndrome C0473586 disease C16;C04;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008948 Color of iris C0474350 phenotype Finding T033 Finding 3 BXGD008949 Generalized Headache C0474366 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 5 BXGD008950 Labor Pain C0474368 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 12 BXGD008951 Inappropriate sexual behavior C0474420 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD008952 Diarrhea and vomiting, symptom C0474496 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 9 BXGD008953 Myokymia, Generalized C0474520 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD008954 Mean corpuscular hemoglobin concentration determination C0474535 phenotype Laboratory Procedure T059 Laboratory Procedure 10 BXGD008955 Hemoglobin A2 measurement C0474543 phenotype Laboratory Procedure T059 Laboratory Procedure 3 BXGD008956 Serum ceruloplasmin measurement C0474679 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD008957 Sulfate measurement C0474702 phenotype Laboratory Procedure T059 Laboratory Procedure 2 BXGD008958 Cerebellopontine Angle Tumor C0474740 disease C04;C10;C09 Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD008959 Follicular neoplasm C0474808 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 68 BXGD008960 Endometrioid tumor C0474809 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD008961 Benign pheochromocytoma C0474822 disease Neoplastic Process T191 Neoplastic Process 3 BXGD008962 Halo nevus C0474824 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 13 BXGD008963 Compound leukemias C0474855 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD008964 Inherited disorder of keratinization C0474892 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD008965 Spindle cell nevus of Reed C0474967 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD008966 Brown tumor of hyperparathyroidism C0475187 disease C04;C18;C05 Neoplasms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD008967 Perinatal pulmonary hemorrhage C0475713 P26 phenotype Pathologic Function T046 Pathologic Function 5 BXGD008968 Neonatal hyperglycemia C0475718 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008969 Hypercalcemia, Infantile C0475732 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 5 BXGD008970 Idiopathic infantile hypercalcemia - mild form C0475733 N25.89 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD008971 Leukemia, Prolymphocytic, B-Cell C0475801 C91.30 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 23 BXGD008972 Perinatal anoxic-ischemic brain injury C0475802 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD008973 Disorder of keratinization C0475811 group C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD008974 Alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder C0475813 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD008975 Generalized pruritus C0475858 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Sign or Symptom T184 Sign or Symptom 5 BXGD008976 Papillary neoplasm C0476073 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 16 BXGD008977 Endometrial Carcinoma C0476089 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1597 BXGD008978 ovarian serous tumor C0476122 disease Neoplastic Process T191 Neoplastic Process 4 BXGD008979 Chondrogenic Neoplasm C0476147 disease C04;C17;C05 Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD008980 Head movements abnormal C0476217 R25.0 phenotype C10 Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 8 BXGD008981 pricking of skin C0476227 phenotype Sign or Symptom T184 Sign or Symptom 65 BXGD008982 Developmental symptoms C0476236 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD008983 Metabolic symptoms C0476237 phenotype Sign or Symptom T184 Sign or Symptom 9 BXGD008984 Dyslexia C0476254 F81.0 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 118 BXGD008985 Cardiovascular symptoms C0476270 phenotype Sign or Symptom T184 Sign or Symptom 3 BXGD008986 Respiratory distress C0476273 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom HP:0002086 Abnormality of the respiratory system T184 Sign or Symptom 259 BXGD008987 Breath-holding spell C0476287 R06.89 phenotype Sign or Symptom T184 Sign or Symptom 3 BXGD008988 Right iliac fossa pain C0476306 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD008989 Blood gases abnormal C0476337 R79.81 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 1 BXGD008990 Echocardiogram abnormal C0476369 R93.1 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 3 BXGD008991 Electroretinogram abnormal C0476397 R94.111 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 158 BXGD008992 Electromyogram abnormal C0476403 R94.131 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 130 BXGD008993 Lung function testing abnormal C0476405 R94.2 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 6 BXGD008994 Reduced vital capacity C0476408 R94.2 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 29 BXGD008995 Physical violence C0476480 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD008996 Generalized enlarged lymph nodes C0476486 R59.1 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system T047 Disease or Syndrome 13 BXGD008997 Other specified coagulation defects C0477316 D68.8 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD008998 Other primary thrombocytopenia C0477317 D69.49 group C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD008999 Immunodeficiency associated with other specified major defects C0477325 D82.8 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD009000 Other specified extrapyramidal and movement disorders C0477362 G25.8 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD009001 Other forms of migraine C0477373 G43.8 group C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD009002 Post-Traumatic Hydrocephalus C0477432 G91.3 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD009003 Dermatitis and eczema C0477474 L20-L30 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD009004 Other specified nonscarring hair loss C0477506 L65.8 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD009005 [X]Spinal osteochondrosis, unspecified C0477611 M42.9 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009006 Cervical disc disorder C0477633 M50 disease C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009007 Hereditary nephropathy C0477728 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009008 Other chronic tubulo-interstitial nephritis C0477729 N11.8 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD009009 Other reduction deformities of brain C0477971 Q04.3 disease Congenital Abnormality DOID:630;DOID:7;DOID:225;DOID:150;DOID:0080015 genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder T019 Congenital Abnormality 2 BXGD009010 Other malformations of cerebral vessels C0478007 Q28.3 disease Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 2 BXGD009011 Other congenital malformations of spine, not associated with scoliosis C0478074 Q76.4 disease Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 1 BXGD009012 Other congenital ichthyosis C0478084 Q80.8 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 1 BXGD009013 Other epidermolysis bullosa C0478085 Q81.8 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 4 BXGD009014 Other deletions of part of a chromosome C0478099 Q93.5 disease Congenital Abnormality DOID:630 genetic disease T019 Congenital Abnormality 2 BXGD009015 Disorder of psychological development C0478658 F89 group F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD009016 Human anaplasmosis due to Anaplasma phagocytophilum C0483368 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 29 BXGD009017 hydatids C0487852 disease Acquired Abnormality T020 Acquired Abnormality 1 BXGD009018 Height C0489786 phenotype Organism Attribute T032 Organism Attribute 249 BXGD009019 Disseminated due to other mycobacteria C0489980 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD009020 Glanders and melioidosis C0494041 A24 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD009021 Secondary malignant neoplasm of small intestine C0494164 C78.4 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD009022 Secondary malignant neoplasm of liver C0494165 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 951 BXGD009023 Combined immunodeficiency C0494261 D81 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome HP:0002715 Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 86 BXGD009024 Other specified immunodeficiencies C0494266 D84.8 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD009025 Type 2 diabetes mellitus without complication C0494290 E11.9 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009026 Lipodystrophy, not elsewhere classified C0494360 E88.1 disease C18;C17 Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD009027 Nonorganic Sleep Wake Cycle Disorders C0494410 disease C10;F03;C24 Nervous System Diseases; Mental Disorders; Occupational Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD009028 Specific developmental disorders of speech and language C0494423 F80 group Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD009029 Alzheimer Disease, Late Onset C0494463 G30.1 disease C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 385 BXGD009030 Tonic - clonic seizures C0494475 G40.4 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 300 BXGD009031 Other headache syndrome C0494479 G44 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD009032 Mononeuropathies C0494491 G58.9 group C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD009033 Diseases of inner ear C0494559 H80-H83 group C09 Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD009034 Hepatic fibrosis and cirrhosis C0494791 K74 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD009035 Vulval intraepithelial neoplasia grade 2 C0495107 N90.1 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 5 BXGD009036 Congenital malformation syndromes involving early overgrowth C0495640 Q87.3 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD009037 Dysarthria and anarthria C0495694 R47.1 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD009038 elevated blood glucose level C0495706 R73 phenotype Finding T033 Finding 89 BXGD009039 Malignant neoplasm of lateral floor of mouth C0496758 C04.1 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD009040 Malignant neoplasm of abdominal part of esophagus C0496775 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD009041 Malignant neoplasm of appendix C0496779 C18.1 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD009042 Malignant tumor of eye C0496836 C69.9 disease C04;C11 Neoplasms; Eye Diseases Neoplastic Process T191 Neoplastic Process 11 BXGD009043 Malignant neoplasm of pituitary gland C0496842 C75.1 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD009044 Benign neoplasm of liver C0496870 D13.4 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 13 BXGD009045 Benign neoplasm of kidney C0496892 D30.0 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD009046 Benign neoplasm of brain, unspecified C0496899 D33.2 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 41 BXGD009047 Benign neoplasm of pituitary gland C0496901 D35.2 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD009048 Neoplasm of uncertain or unknown behavior of stomach C0496905 D37.1 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 17 BXGD009049 Neoplasm of uncertain or unknown behavior of ovary C0496920 D39.1 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 29 BXGD009050 Neoplasm of uncertain or unknown behavior of testis C0496924 D40.1 disease C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD009051 Neoplasm of uncertain or unknown behavior of bladder C0496930 D41.4 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 15 BXGD009052 Neoplasm of uncertain or unknown behavior of breast C0496956 D48.6 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 41 BXGD009053 Lymphadenopathy C0497156 R59.1 phenotype C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system T047 Disease or Syndrome 277 BXGD009054 hiv-infection/aids C0497169 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 124 BXGD009055 Abnormal ocular motility C0497202 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 45 BXGD009056 Hearing complaints (excluding H84-86) C0497219 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD009057 Uncomplicated hypertension C0497248 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009058 hypertension complicated C0497249 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD009059 meningitis/encephalitis C0497299 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD009060 Feeling depressed C0497307 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD009061 Dementia C0497327 F03.90 disease C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 816 BXGD009062 atopic eczema/dermatitis (non-specific) C0497391 disease C16;C17;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD009063 Anorexia and bulimia syndrome C0497397 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD009064 Overweight C0497406 E66.3 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001507 Growth abnormality T033 Finding 27 BXGD009065 Benign digestive system neoplasms C0497538 D13.9 group C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T191 Neoplastic Process 2 BXGD009066 Benign neurologic neoplasms C0497550 group C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 29 BXGD009067 Congenital neurologic anomalies C0497552 Q00-Q07 group C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 84 BXGD009068 Hemoglobin measurement C0518015 phenotype Laboratory Procedure T059 Laboratory Procedure 131 BXGD009069 body fat percentage (physical finding) C0518026 phenotype Finding T033 Finding 56 BXGD009070 Change in voice (finding) C0518179 R49.9 phenotype C23;C08;C10;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD009071 Chronic fatigue C0518656 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0025142 Constitutional symptom T033 Finding 17 BXGD009072 Chlamydia trachomatis infection C0518948 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 36 BXGD009073 Left atrial myxoma C0518959 disease Neoplastic Process T191 Neoplastic Process 1 BXGD009074 Dental abscess C0518988 phenotype C23;C01;C05;C07 Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome HP:0002715;HP:0000152 Abnormality of the immune system; Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD009075 Acute diverticulitis C0518989 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD009076 Gastrointestinal amyloidosis C0519002 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009077 HEPATOSPLENIC LYMPHOMA C0519022 disease Neoplastic Process T191 Neoplastic Process 2 BXGD009078 Pneumonia due to Klebsiella pneumoniae C0519030 J15.0 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD009079 Renal involvement in scleroderma C0519055 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009080 Acute Q fever C0519066 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 10 BXGD009081 tuberculosis chronic pulmonary C0519095 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009082 Left ventricular aneurysm C0519097 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD009083 ASSAY FOR TACROLIMUS C0519826 phenotype Laboratory Procedure T059 Laboratory Procedure 2 BXGD009084 Necrotizing Enterocolitis C0520459 K55.3 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 103 BXGD009085 Chronic active hepatitis C0520463 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 122 BXGD009086 Aseptic Necrosis of Bone C0520474 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T046 Pathologic Function 1 BXGD009087 Prostatic Adenoma C0520477 disease C12 Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD009088 Rebound hypertension C0520540 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009089 Hypotensive episode C0520541 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009090 Arteriovenous malformation of liver C0520557 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0025031;HP:0001626 Abnormality of the digestive system; Abnormality of the cardiovascular system T019 Congenital Abnormality 2 BXGD009091 Numbness of tongue C0520559 phenotype C07 Stomatognathic Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD009092 Fibrosis of bile duct C0520571 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD009093 Enzymopathy C0520572 group C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD009094 Buffalo hump C0520573 disease Finding HP:0001574;HP:0003549 Abnormality of the integument; Abnormality of connective tissue T033 Finding 1 BXGD009095 Cerebrovascular amyloidosis C0520574 disease C18;C10;C14 Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD009096 Acute pyelonephritis C0520575 N10 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 44 BXGD009097 Retractile testis C0520578 Q55.22 disease C12;C19 Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 2 BXGD009098 Menopausal depression C0520665 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD009099 Premenstrual Dysphoric Disorder C0520676 F32.81 disease C23;F03 Pathological Conditions, Signs and Symptoms; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 12 BXGD009100 Postpartum psychosis C0520678 F53.1 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 19 BXGD009101 Sleep Apnea, Obstructive C0520679 G47.33 disease C08;C10 Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome HP:0000707;HP:0002086 Abnormality of the nervous system; Abnormality of the respiratory system DOID:150 disease of mental health T047 Disease or Syndrome 480 BXGD009102 Sleep Apnea, Central C0520680 disease C08;C10 Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome HP:0000707;HP:0002086 Abnormality of the nervous system; Abnormality of the respiratory system DOID:150 disease of mental health T047 Disease or Syndrome 122 BXGD009103 Pallidopontonigral degeneration C0520716 disease C18;C10;F03 Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:7;DOID:150 disease of anatomical entity; disease of mental health T047 Disease or Syndrome 4 BXGD009104 Retraction Nystagmus C0520731 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009105 Coombs positive hemolytic anemia C0520736 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 6 BXGD009106 Hereditary pyropoikilocytosis C0520739 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 47 BXGD009107 Mediastinal lymphadenopathy C0520743 disease C08;C15 Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001626;HP:0045027 Abnormality of the immune system; Abnormality of the cardiovascular system; Abnormality of the thoracic cavity T047 Disease or Syndrome 19 BXGD009108 Paratracheal lymphadenopathy C0520744 disease C08;C15 Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009109 Prolonged neuromuscular block C0520758 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD009110 Posttransfusion viral hepatitis C0520788 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 5 BXGD009111 Progressive subcortical gliosis C0520789 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009112 Hepatic schistosomiasis C0520798 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD009113 Unexplained sudden death C0520806 phenotype C23 Pathological Conditions, Signs and Symptoms Finding T033 Finding 2 BXGD009114 Patellar clonus C0520823 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 6 BXGD009115 Raised jugular venous pressure C0520861 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 1 BXGD009116 Diastolic dysfunction C0520863 phenotype Pathologic Function T046 Pathologic Function 1 BXGD009117 Shortened PR interval C0520878 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 6 BXGD009118 ST segment elevation (finding) C0520886 phenotype C14 Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 23 BXGD009119 ST segment depression (finding) C0520887 phenotype C14 Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 3 BXGD009120 Inverted T wave C0520888 phenotype C14 Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 4 BXGD009121 Postoperative Nausea C0520904 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 7 BXGD009122 Vomiting, Postoperative C0520905 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 7 BXGD009123 Postoperative Nausea and Vomiting C0520909 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 31 BXGD009124 Decreased fertility C0520927 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 50 BXGD009125 Abnormal spermatogenesis C0520933 phenotype C12 Male Urogenital Diseases Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 5 BXGD009126 Clumsiness - motor delay C0520947 F82 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 393 BXGD009127 Localized pain C0520962 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 2 BXGD009128 Abnormal coordination C0520966 R27.9 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 59 BXGD009129 Accommodation phosphene disorder C0520998 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD009130 Recurrent tumor C0521158 phenotype Neoplastic Process T191 Neoplastic Process 735 BXGD009131 Osteoporotic Fractures C0521170 group C26 Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 108 BXGD009132 Granulomatosis C0521173 disease Disease or Syndrome HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 14 BXGD009133 Microcalcification C0521174 phenotype C18 Nutritional and Metabolic Diseases Pathologic Function T046 Pathologic Function 42 BXGD009134 Neuropil Threads C0521175 disease Acquired Abnormality T020 Acquired Abnormality 13 BXGD009135 Mucocutaneous ulcer C0521478 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009136 Mucous membrane hyperplasia C0521483 phenotype Sign or Symptom T184 Sign or Symptom 3 BXGD009137 Calcific tendinitis C0521515 M65.2 disease C05;C26 Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 3 BXGD009138 Polymyalgia C0521516 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD009139 Short neck C0521525 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 288 BXGD009140 Shortened trunk C0521527 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Acquired Abnormality T020 Acquired Abnormality 1 BXGD009141 Diaphragmatic paresis C0521532 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 8 BXGD009142 Atrial septal aneurysm C0521533 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 5 BXGD009143 Coloboma of eyelid C0521573 Q10.3 phenotype C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 28 BXGD009144 Congenital strabismus C0521579 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD009145 Gastrointestinal mucositis C0521585 disease C06;C07 Digestive System Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 98 BXGD009146 Peritoneal Fibrosis C0521607 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 104 BXGD009147 Gallstone pancreatitis C0521614 K85.1 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD009148 Stenosis of ureter C0521618 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 10 BXGD009149 Obstruction of pelviureteric junction C0521619 Q62.39 phenotype C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T046 Pathologic Function 14 BXGD009150 Dilatation of ureter C0521620 N28.82 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 72 BXGD009151 Bilateral hydronephrosis C0521622 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD009152 Kidney crystallization C0521623 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009153 Fibrosis of urinary bladder C0521626 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Acquired Abnormality T020 Acquired Abnormality 5 BXGD009154 Neonatal respiratory failure C0521648 P28.5 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD009155 Caffeine withdrawal C0521652 F15.93 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD009156 Neurologic Deficits C0521654 group C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 8 BXGD009157 Motor Neuron Disease, Upper C0521659 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD009158 Hemiplegia, Transient C0521662 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD009159 Acute Confusional Migraine C0521664 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD009160 Cranial nerve compression C0521670 disease C10;C26 Nervous System Diseases; Wounds and Injuries Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 19 BXGD009161 Chorioretinal degeneration C0521683 disease C11 Eye Diseases Pathologic Function HP:0000478 Abnormality of the eye T046 Pathologic Function 5 BXGD009162 Glaucomatous retinal degeneration C0521686 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD009163 Generalized progressive retinal atrophy C0521691 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD009164 Atrophic retina C0521694 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 24 BXGD009165 Vogt-Koyanagi-Harada like syndrome C0521698 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD009166 Bilateral cataracts (disorder) C0521707 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 166 BXGD009167 Clouding of corneal stroma C0521719 disease C11;C17 Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 8 BXGD009168 Corneal fibrosis C0521720 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD009169 Corneal dystrophy, epithelial basement membrane C0521723 disease C11;C10;C14 Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD009170 Lower eyelid ectropion C0521736 disease C11 Eye Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 4 BXGD009171 Temporary Nystagmus C0521753 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009172 Permanent Nystagmus C0521754 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009173 Unidirectional Nystagmus C0521755 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009174 Multidirectional Nystagmus C0521756 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009175 Conjugate Nystagmus C0521757 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009176 Convergence Nystagmus C0521759 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009177 Fatigable Positional Nystagmus C0521760 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009178 Non-Fatigable Positional Nystagmus C0521761 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009179 Asteroid hyalosis C0521770 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 2 BXGD009180 Hearing Loss, Unilateral C0521785 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009181 Central cyanosis C0521800 phenotype C23;C17;C08;C14 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases Sign or Symptom T184 Sign or Symptom 3 BXGD009182 Congenital atransferrinemia C0521802 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD009183 Influenza-like illness C0521839 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 21 BXGD009184 Increased drug tolerance C0521853 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD009185 Increased drug resistance C0521857 phenotype Disease or Syndrome T047 Disease or Syndrome 47 BXGD009186 Decreased drug resistance C0521858 phenotype Disease or Syndrome T047 Disease or Syndrome 15 BXGD009187 Symptoms of stress C0521991 phenotype Sign or Symptom T184 Sign or Symptom 33 BXGD009188 Acute chest pain C0522051 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 13 BXGD009189 Electrocardiogram abnormal C0522055 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 11 BXGD009190 Pancreatic symptom C0522070 phenotype Sign or Symptom T184 Sign or Symptom 5 BXGD009191 Pancreatic pain C0522071 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 4 BXGD009192 Urine Discoloration C0522153 phenotype C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 10 BXGD009193 Delinquent behavior C0522174 phenotype F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 17 BXGD009194 Death anxiety C0522179 phenotype F03;F01 Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom T184 Sign or Symptom 3 BXGD009195 Tocophobia C0522187 phenotype F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD009196 Abnormal visual evoked potential C0522214 R94.112 phenotype C10 Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 55 BXGD009197 Abnormal auditory evoked potential C0522216 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 11 BXGD009198 Paralysed C0522224 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 68 BXGD009199 Analgesic Overuse Headache C0522254 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 28 BXGD009200 Humoral immune defect C0522274 group C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 29 BXGD009201 Reflex, Acoustic, Abnormal C0522345 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 5 BXGD009202 Vertigo, Paroxysmal C0522357 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom HP:0000598 Abnormality of the ear T184 Sign or Symptom 16 BXGD009203 Focal dysplasia C0522618 disease Congenital Abnormality T019 Congenital Abnormality 3 BXGD009204 Subcutaneous panniculitis-like T-cell lymphoma C0522624 C86.3 disease C04;C17;C20;C15 Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 13 BXGD009205 Acute myeloid leukemia, minimal differentiation C0522631 C92.0 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 33 BXGD009206 Complement factor H measurement C0523353 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD009207 Acylcarnitines measurement C0523446 phenotype Laboratory Procedure T059 Laboratory Procedure 6 BXGD009208 Alanine measurement C0523459 phenotype Laboratory Procedure T059 Laboratory Procedure 3 BXGD009209 Serum albumin measurement C0523465 phenotype Laboratory Procedure T059 Laboratory Procedure 433 BXGD009210 Apolipoproteins E measurement (procedure) C0523511 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD009211 beta-Endorphin measurement C0523522 phenotype Laboratory Procedure T059 Laboratory Procedure 2 BXGD009212 Catalase measurement C0523550 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD009213 Folic acid measurement C0523631 phenotype Laboratory Procedure T059 Laboratory Procedure 3 BXGD009214 Fibronectin measurement C0523633 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD009215 Glycine measurement C0523677 phenotype Laboratory Procedure T059 Laboratory Procedure 32 BXGD009216 Hemopexin measurement C0523688 phenotype Laboratory Procedure T059 Laboratory Procedure 4 BXGD009217 Lipids measurement C0523744 group Laboratory Procedure T059 Laboratory Procedure 27 BXGD009218 Lysine measurement C0523760 phenotype Laboratory Procedure T059 Laboratory Procedure 3 BXGD009219 Ornithine measurement C0523801 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD009220 Inorganic phosphate measurement C0523827 phenotype Laboratory Procedure T059 Laboratory Procedure 11 BXGD009221 Phosphatidylcholine measurement C0523829 phenotype Laboratory Procedure T059 Laboratory Procedure 9 BXGD009222 Proline measurement C0523852 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD009223 Serine measurement C0523888 phenotype Laboratory Procedure T059 Laboratory Procedure 9 BXGD009224 Testosterone measurement C0523912 phenotype Laboratory Procedure T059 Laboratory Procedure 14 BXGD009225 Threonine measurement C0523920 phenotype Laboratory Procedure T059 Laboratory Procedure 4 BXGD009226 Cardiac troponin T measurement C0523953 phenotype Laboratory Procedure T059 Laboratory Procedure 11 BXGD009227 Vitamin D3 measurement C0523979 phenotype Laboratory Procedure T059 Laboratory Procedure 14 BXGD009228 Pseudoaphakia C0524524 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 28 BXGD009229 Pervasive Development Disorder C0524528 F84 group F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 328 BXGD009230 Deciduoma C0524541 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD009231 Mulibrey Nanism C0524582 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 7 BXGD009232 Mean Corpuscular Volume (result) C0524587 phenotype Laboratory or Test Result T034 Laboratory or Test Result 269 BXGD009233 Aseptic Necrosis of Femur Head C0524595 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function T046 Pathologic Function 3 BXGD009234 Chronic Alcoholic Hepatitis C0524610 disease C06;C25 Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 5 BXGD009235 Cryptogenic Chronic Hepatitis C0524611 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 22 BXGD009236 Metabolic Syndrome X C0524620 E88.81 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1125 BXGD009237 Narcotic Abuse C0524661 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD009238 Opiate Addiction C0524662 F11.2 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 81 BXGD009239 Neuropapillitis C0524679 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009240 Periodontitis, Acute Nonsuppurative C0524686 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009241 Pneumonic Plague C0524688 A20.2 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 8 BXGD009242 Pulmonary Thromboembolisms C0524702 disease C08;C14 Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 33 BXGD009243 Odontome C0524730 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality T019 Congenital Abnormality 10 BXGD009244 Retinal Neoplasms C0524801 group C04;C11 Neoplasms; Eye Diseases Neoplastic Process HP:0002664;HP:0000478 Neoplasm; Abnormality of the eye DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD009245 Intracranial Hypotension C0524812 G96.81 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD009246 Neurodegenerative Disorders C0524851 G31.9 group C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1515 BXGD009247 Hepatitis B, Chronic C0524909 B18.1 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 415 BXGD009248 Hepatitis C, Chronic C0524910 B18.2 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 430 BXGD009249 Hepatitis D, Chronic C0524911 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 6 BXGD009250 Hepatitis, Chronic, Drug-Induced C0524912 disease C06;C25 Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD009251 Maxillofacial Abnormalities C0524948 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD009252 Corneal Topography C0524957 phenotype Diagnostic Procedure T060 Diagnostic Procedure 39 BXGD009253 Schnitzler Syndrome C0524988 disease C20 Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD009254 Neurobehavioral Manifestations C0525041 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom T184 Sign or Symptom 77 BXGD009255 Mood Disorders C0525045 F30-F39 group F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 580 BXGD009256 Schizophrenia Spectrum and Other Psychotic Disorders C0525046 group F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD009257 Nephrosis and Glomerulosclerosis C0541633 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD009258 Stress polycythemia C0541719 D75.1 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD009259 Delayed bone age C0541764 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 295 BXGD009260 Platelet aggregation abnormal C0541767 phenotype C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD009261 Atrial standstill C0541782 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function HP:0001626 Abnormality of the cardiovascular system T046 Pathologic Function 2 BXGD009262 Skeletal muscle atrophy C0541794 phenotype Pathologic Function HP:0003011 Abnormality of the musculature T046 Pathologic Function 306 BXGD009263 Early Awakening C0541798 phenotype C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 10 BXGD009264 Duodenal Cancer C0541912 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD009265 Epigastric burning C0541938 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 2 BXGD009266 Fasciculation, Skeletal Muscle C0541957 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 1 BXGD009267 Gene genetic abnormality C0541978 disease C23 Pathological Conditions, Signs and Symptoms Congenital Abnormality T019 Congenital Abnormality 1 BXGD009268 Erythroid hypoplasia C0542035 disease Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 14 BXGD009269 Hypotriglyceridemia C0542037 disease Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 9 BXGD009270 Marrow hypercellular C0542080 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD009271 Paralysis radial C0542141 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD009272 Recurrent Laryngeal Nerve Paralysis C0542142 disease C23;C08;C10;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009273 Pseudoparkinsonism C0542165 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009274 Loss of speech C0542223 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 37 BXGD009275 Hypochondrogenesis C0542428 Q77.0 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 2 BXGD009276 Forgetful C0542476 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 429 BXGD009277 Blue sclera C0542514 Q13.5 phenotype C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 70 BXGD009278 Enlarged kidney C0542518 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 27 BXGD009279 Congenital absence of kidney C0542519 Q60 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T019 Congenital Abnormality 33 BXGD009280 Facial edema C0542571 disease C23;C13;C17;C12;C20;C14 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function HP:0001939;HP:0000152 Abnormality of metabolism/homeostasis; Abnormality of head or neck T046 Pathologic Function 9 BXGD009281 Residual Tumor C0543478 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD009282 Glycogen Storage Disease IXB C0543514 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD009283 Sucrase deficiency C0543515 E74.39 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD009284 Hyperlysinemia, type I C0543533 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD009285 HYPERGLYCINURIA (disorder) C0543541 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T047 Disease or Syndrome 14 BXGD009286 Lupus erythematosus, subacute C0543636 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009287 Megaloblastic anemia, secondary C0543641 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009288 Idiopathic Autoimmune Hemolytic Anemia C0543663 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009289 Fibrinolytic disorder C0543673 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009290 Thymic alymphoplasia C0543687 D82.1 disease C20 Immune System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 6 BXGD009291 Mixed cryoglobulinemia C0543697 D89.1 disease C20;C15;C14 Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 56 BXGD009292 Hypersensitive syndrome C0543698 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD009293 ASA intolerant asthma C0543699 disease C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD009294 Idiopathic hypercalciuria C0543800 R82.994 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 20 BXGD009295 Progressive cardiomyopathic lentiginosis syndrome C0543816 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009296 Atherosclerotic occlusive disease C0543822 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD009297 Motor Neuron Disease, Secondary C0543858 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD009298 Amyotrophic Lateral Sclerosis, Guam Form C0543859 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 36 BXGD009299 Apraxia, oculomotor, Cogan type C0543874 disease C23;C11;C10;F01;C14 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 10 BXGD009300 Epileptic encephalopathy C0543888 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 187 BXGD009301 Neuroleptic-Induced Tardive Dyskinesia C0543891 G24.01 disease C23;C10;C25 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 8 BXGD009302 SCHIZOPHRENIA 10 C0543918 disease Mental or Behavioral Dysfunction DOID:630;DOID:150 genetic disease; disease of mental health T048 Mental or Behavioral Dysfunction 10 BXGD009303 Cone dysfunction syndrome C0543968 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 25 BXGD009304 Glaucoma, primary C0543982 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD009305 Chronic primary angle closure glaucoma C0543991 H40.22 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD009306 Chandler syndrome C0544008 H18.51 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD009307 Fuchs' syndrome C0544015 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD009308 Orthostatic hypertension C0544618 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009309 Focal Sensory Seizure C0544645 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 2 BXGD009310 Genu varum C0544755 M21.16 phenotype C05 Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 60 BXGD009311 wegener's granuloma C0544786 disease C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009312 Follicular occlusion triad - hidradenitis, acne conglobata, dissecting cellulitis of scalp C0544795 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009313 Myositis, Proliferative C0544796 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD009314 Histiocytosis, generalized eruptive C0544799 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD009315 Nodular amyloidosis C0544840 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD009316 Dystrophy, granular C0544848 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD009317 Hypertrichosis, universal C0544852 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD009318 Neurocutaneous melanosis C0544862 phenotype C16;C17;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases Pathologic Function T046 Pathologic Function 1 BXGD009319 Somatic mutation C0544886 phenotype Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 151 BXGD009320 Autophagic vaculoes (finding) C0544966 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 6 BXGD009321 pituitary giant C0545034 disease Acquired Abnormality T020 Acquired Abnormality 1 BXGD009322 Acrokeratoelastoidosis of Costa C0545044 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD009323 Advanced bone age C0545053 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 64 BXGD009324 Myxoid/Round Cell Liposarcoma C0545074 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 61 BXGD009325 Composite Lymphoma C0545080 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 15 BXGD009326 mantle lymphoma C0545081 disease Neoplastic Process T191 Neoplastic Process 1 BXGD009327 Nemaline Myopathy, Childhood Onset C0546125 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD009328 Acute Confusional Senile Dementia C0546126 disease C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 99 BXGD009329 Mercury Poisoning, Nervous System C0546127 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 3 BXGD009330 Congenital Fiber Type Disproportion C0546264 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 33 BXGD009331 Single right ventricle C0546268 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 1 BXGD009332 Hypoganglionosis C0546275 disease Disease or Syndrome HP:0025031;HP:0000707 Abnormality of the digestive system; Abnormality of the nervous system T047 Disease or Syndrome 6 BXGD009333 Hallux Varus C0546297 disease C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD009334 Mucosal erosion C0546343 phenotype Acquired Abnormality T020 Acquired Abnormality 4 BXGD009335 Focal oral mucinosis C0546384 K13.79 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD009336 Hepatic periportal necrosis C0546389 disease Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 3 BXGD009337 Macular cutaneous amyloidosis C0546393 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009338 Nodular cutaneous amyloidosis C0546394 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD009339 Idiopathic cardiac hypertrophy C0546466 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009340 Multiple self-healing squamous epithelioma C0546476 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD009341 Lung cyst C0546483 disease C23;C04;C08 Pathological Conditions, Signs and Symptoms; Neoplasms; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD009342 Fluid overload C0546817 E87.70 disease C18;C13;C12;C14 Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Pathologic Function HP:0001626 Abnormality of the cardiovascular system T046 Pathologic Function 4 BXGD009343 Malignant neoplasm of esophagus C0546837 C15.9 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1286 BXGD009344 Nodding spasm C0546878 disease C10 Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 8 BXGD009345 Hypovolemia C0546884 E86.9 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 37 BXGD009346 Subacromial bursitis C0546953 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD009347 Atrial tachycardia C0546959 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD009348 Genu recurvatum C0546964 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 32 BXGD009349 Posterior embryotoxon C0546967 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 44 BXGD009350 Fistula of branchial cleft C0546968 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 8 BXGD009351 Preauricular Fistulae, Congenital C0546969 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T019 Congenital Abnormality 4 BXGD009352 Cystic fibrosis with meconium ileus C0546982 E84.11 disease C16;C06;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009353 Post-Concussion Syndrome C0546983 F07.81 disease C10;C26 Nervous System Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 11 BXGD009354 Acute viral encephalitis C0546994 group C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 8 BXGD009355 Mixed oligoastrocytoma C0547065 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 30 BXGD009356 Low frustration tolerance C0548883 phenotype F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 14 BXGD009357 Burn infection C0548923 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD009358 Hemiplegia-hemiconvulsion-epilepsy syndrome C0549118 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009359 Large tonsils (finding) C0549123 phenotype C23 Pathological Conditions, Signs and Symptoms Finding T033 Finding 3 BXGD009360 Pulmonary renal syndrome C0549143 disease C23;C13;C12;C08 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009361 Pseudofolliculitis barbae (disorder) C0549150 L73.1 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009362 Follicular keratosis C0549151 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009363 Fibromatosis colli C0549175 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD009364 Myasthenic Syndrome C0549225 disease Disease or Syndrome T047 Disease or Syndrome 12 BXGD009365 Opiate withdrawal symptoms C0549263 phenotype C25;F03 Chemically-Induced Disorders; Mental Disorders Sign or Symptom T184 Sign or Symptom 1 BXGD009366 Thrombosis of inferior vena cava C0549289 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009367 Auricular swelling C0549297 phenotype C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom T184 Sign or Symptom 49 BXGD009368 Mesomelia C0549306 disease C16;C13;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 27 BXGD009369 Morning glory syndrome C0549307 disease C23;C16;C13;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009370 Hydatidiform mole, benign C0549315 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 1 BXGD009371 Abdominal adhesions C0549357 disease C06 Digestive System Diseases Acquired Abnormality T020 Acquired Abnormality 6 BXGD009372 Recurrent Carcinoma C0549379 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 18 BXGD009373 Sensation of warmth C0549386 phenotype Sign or Symptom T184 Sign or Symptom 4 BXGD009374 Alcohol problem C0549393 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 23 BXGD009375 Deviated nasal septum C0549397 J34.2 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 5 BXGD009376 Low density lipoprotein increased C0549399 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 23 BXGD009377 Low APGAR score C0549400 phenotype Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 2 BXGD009378 Palmar-plantar erythrodysesthesia syndrome C0549410 disease C17;C25 Skin and Connective Tissue Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 11 BXGD009379 Blast cell proliferation C0549414 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 10 BXGD009380 Obstructive Hydrocephalus C0549423 G91.1 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD009381 Hemoglobin increased C0549448 phenotype C04;C15 Neoplasms; Hemic and Lymphatic Diseases Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 7 BXGD009382 X-Linked Lymphoproliferative Disorder C0549463 D82.3 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:630;DOID:7 genetic disease; disease of anatomical entity T191 Neoplastic Process 49 BXGD009383 Pancoast Tumor C0549471 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD009384 Thyroid carcinoma C0549473 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0002664 Abnormality of the endocrine system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1175 BXGD009385 Alveolitis C0549493 disease C17;C08 Skin and Connective Tissue Diseases; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 63 BXGD009386 Oropharynx (excludes nasopharynx) C0549523 disease Disease or Syndrome T047 Disease or Syndrome 94 BXGD009387 Pigmentation Disorders C0549567 L81.9 group C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD009388 VEINS/LYMPHATICS C0549608 phenotype C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009389 Dysfunction adrenal C0549609 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009390 Biliary tract abnormality C0549613 phenotype C06 Digestive System Diseases Finding HP:0025031 Abnormality of the digestive system T033 Finding 14 BXGD009391 MALE GENITAL ABNORMALITIES C0549618 group Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD009392 Sexual Dysfunction C0549622 F52.9 group C23;C13;F03;F01 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 36 BXGD009393 Abnormal delivery C0549629 phenotype Pathologic Function HP:0001197 Abnormality of prenatal development or birth T046 Pathologic Function 32 BXGD009394 Necrotizing Arteritis C0553548 disease C17;C14 Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD009395 Jackknife Seizures C0553558 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD009396 Primary infertility C0553573 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD009397 Systemic mycosis C0553576 disease C23;C01;C17 Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD009398 Post-tuberculous reactive arthritis C0553577 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009399 Ewings sarcoma C0553580 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 517 BXGD009400 Round cell sarcoma C0553581 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 20 BXGD009401 Cafe-au-lait macules with pulmonary stenosis C0553586 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD009402 Myotonic Disorders C0553604 G71.1 group C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD009403 Soft tissue rheumatism C0553642 disease C23;C17;C05 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD009404 calcifying aponeurotic fibroma C0553647 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD009405 Skin endocrine disorder C0553665 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 34 BXGD009406 Hypofibrinogenemia C0553681 disease Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 60 BXGD009407 Cerebral herniation C0553686 disease C10 Nervous System Diseases Anatomical Abnormality T190 Anatomical Abnormality 3 BXGD009408 Brain hemorrhage C0553692 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function HP:0000707;HP:0001871;HP:0001626 Abnormality of the nervous system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T046 Pathologic Function 10 BXGD009409 Oropharyngeal disorders C0553694 group C06;C08;C07;C09 Digestive System Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 163 BXGD009410 Heinz body observation C0553699 phenotype Laboratory or Test Result T034 Laboratory or Test Result 6 BXGD009411 Malignant epithelioma C0553707 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 18 BXGD009412 BREAST PAIN FEMALE C0553713 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Sign or Symptom T184 Sign or Symptom 6 BXGD009413 Renal artery occlusion C0553718 N28.0 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD009414 Spherocytosis C0553720 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 5 BXGD009415 Diminished sweating C0553721 phenotype C17;C10 Skin and Connective Tissue Diseases; Nervous System Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 5 BXGD009416 Squamous cell carcinoma of skin C0553723 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 458 BXGD009417 Calcium pyrophosphate deposition disease C0553730 M11.2 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924;HP:0003549 Abnormality of the skeletal system; Abnormality of connective tissue DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 34 BXGD009418 Olfaction Disorders C0553757 group C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009419 Congenital Cerebral Palsy C0553767 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009420 Endomyocardial Fibrosis C0553980 phenotype C14 Cardiovascular Diseases Pathologic Function HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T046 Pathologic Function 20 BXGD009421 Recurrent mouth ulcers C0554021 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD009422 Villous atrophy C0554101 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 19 BXGD009423 Intestinal malabsorption of fat C0554103 phenotype C06;C18 Digestive System Diseases; Nutritional and Metabolic Diseases Pathologic Function HP:0025031 Abnormality of the digestive system T046 Pathologic Function 5 BXGD009424 Prerenal uremia syndrome C0554309 R39.2 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD009425 Polymyositis, Idiopathic C0554591 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD009426 Group A Streptococcal Infections C0554628 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 8 BXGD009427 poorly controlled diabetes mellitus C0554876 disease C18;C20;C19 Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009428 Pallor of optic disc C0554970 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 98 BXGD009429 Racing thoughts C0554978 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD009430 Moody (finding) C0554980 phenotype Finding T033 Finding 1 BXGD009431 Aggressive outburst C0554985 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD009432 Malignant Glioma C0555198 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 724 BXGD009433 Malignant lymphoma - lymphocytic, intermediate differentiation C0555202 disease Neoplastic Process T191 Neoplastic Process 5 BXGD009434 Chiari malformation type II C0555206 Q07.0 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 7 BXGD009435 pseudohermaphrodite (non-specific) C0555232 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD009436 Cerebral metastasis C0555278 disease Neoplastic Process T191 Neoplastic Process 16 BXGD009437 Nasal infection C0555970 group C01;C08;C09 Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009438 Oral infection C0555971 group C01;C08;C07 Infections; Respiratory Tract Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 35 BXGD009439 Infection of foot C0555973 group C23;C01;C17;C05 Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009440 Gross motor impairment C0556280 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 22 BXGD009441 Binge Drinking C0556346 phenotype C25;F03;F01 Chemically-Induced Disorders; Mental Disorders; Behavior and Behavior Mechanisms Individual Behavior T055 Individual Behavior 3 BXGD009442 Drunk driving C0556374 phenotype C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD009443 Craving for alcohol C0556385 phenotype Finding T033 Finding 3 BXGD009444 Global developmental delay C0557874 F88 disease Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 1825 BXGD009445 Tired C0557875 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD009446 Intrusive thoughts C0558066 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD009447 Verbally abusive behavior C0558089 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD009448 Distorted body image C0558116 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD009449 Curly hair (finding) C0558165 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 24 BXGD009450 Stiff limbs C0558193 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD009451 Tongue Carcinoma C0558353 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 157 BXGD009452 Tonsillar Carcinoma C0558355 disease C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 23 BXGD009453 Malignant melanoma of eye C0558356 disease C04;C11 Neoplasms; Eye Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 38 BXGD009454 Arthritis/arthrosis C0558384 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD009455 Disorder of neck C0558385 group C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD009456 Renal pain C0558489 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 1 BXGD009457 Uric acid renal calculus C0558595 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD009458 Knee reflex absent C0558844 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707;HP:0040064 Abnormality of the nervous system; Abnormality of limbs T033 Finding 5 BXGD009459 Reflex, Ankle, Absent C0558845 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707;HP:0040064 Abnormality of the nervous system; Abnormality of limbs T033 Finding 33 BXGD009460 Reflex, Triceps, Absent C0558846 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 5 BXGD009461 Reflex, Biceps, Absent C0558847 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 5 BXGD009462 Nasal and nasal-type NK/T-cell lymphoma C0558916 C84.9 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 8 BXGD009463 Lump on thigh C0558920 phenotype Sign or Symptom T184 Sign or Symptom 6 BXGD009464 Functional Gastrointestinal Disorders C0559031 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 33 BXGD009465 Ventricular preexcitation C0559106 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 20 BXGD009466 Congenital scoliosis C0559260 Q67.5 disease C05 Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 21 BXGD009467 Subchondral hematoma C0559359 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Acquired Abnormality T020 Acquired Abnormality 2 BXGD009468 Sacrococcygeal teratoma C0559459 disease C04;C05;C10 Neoplasms; Musculoskeletal Diseases; Nervous System Diseases Neoplastic Process HP:0000119;HP:0002664;HP:0000924 Abnormality of the genitourinary system; Neoplasm; Abnormality of the skeletal system T191 Neoplastic Process 7 BXGD009469 Adrenal neuroblastoma C0559460 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD009470 Allergy to eggs C0559469 phenotype C20 Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD009471 Allergy to peanuts C0559470 phenotype C20 Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 36 BXGD009472 Pentalogy of Cantrell C0559483 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD009473 Neonatal unconjugated hyperbilirubinemia C0559506 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 2 BXGD009474 Genital tuberculosis C0559523 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009475 Difficulty running C0560346 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 38 BXGD009476 Hip circumference C0562350 phenotype Clinical Attribute T201 Clinical Attribute 68 BXGD009477 Sexually disinhibited behavior C0562557 phenotype Finding T033 Finding 1 BXGD009478 Carcinoma of anal canal C0563211 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD009479 Poor coordination C0563243 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 26 BXGD009480 IgA myeloma C0563305 disease C04;C20;C15;C14 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD009481 IgG myeloma C0563306 disease C04;C20;C15;C14 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD009482 IgM monoclonal gammopathy of uncertain significance C0563312 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 11 BXGD009483 Epispadias, male (disorder) C0563449 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 4 BXGD009484 Agnosia for Pain C0563625 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 204 BXGD009485 Manic mood C0564408 phenotype F01 Behavior and Behavior Mechanisms Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD009486 Impulsive character (finding) C0564567 R45.87 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 52 BXGD009487 Obstetric disorders C0564778 group Disease or Syndrome T047 Disease or Syndrome 5 BXGD009488 Maternal hypertension C0565599 disease C13;C14 Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Disease or Syndrome HP:0001197 Abnormality of prenatal development or birth T047 Disease or Syndrome 52 BXGD009489 Primary sclerosing cholangitis C0566602 K83.01 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 264 BXGD009490 Nasal voice C0566620 phenotype Finding HP:0001608 Abnormality of the voice T033 Finding 93 BXGD009491 Large placenta C0566693 phenotype Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 4 BXGD009492 Small placenta C0566694 phenotype Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 5 BXGD009493 Narrow sacrosciatic notch C0566888 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 10 BXGD009494 Small labia majora C0566899 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 35 BXGD009495 Allergy to chlorpromazine C0570855 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD009496 Overdose of cocaine C0573196 disease Injury or Poisoning T037 Injury or Poisoning 1 BXGD009497 Edema of foot (finding) C0574002 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 19 BXGD009498 Axillary vein thrombosis C0574014 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009499 Vertebral artery aneurysm C0574027 I72.6 disease C08;C10;C14 Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009500 Guanidinoacetate methyltransferase deficiency C0574080 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD009501 3-Methylglutaconic aciduria type 2 C0574083 E78.71 disease C16;C18;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 30 BXGD009502 3-Methylglutaconic aciduria type 3 C0574084 disease C23;C16;C18;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 12 BXGD009503 Liver calculus C0574143 disease Disease or Syndrome T047 Disease or Syndrome 45 BXGD009504 Drug-induced erythema multiforme C0574715 disease C17;C20;C25 Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 2 BXGD009505 Loss of scalp hair C0574769 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 16 BXGD009506 Lower Urinary Tract Symptoms C0574785 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 77 BXGD009507 Sacroiliitis C0574960 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 33 BXGD009508 Finger joint hypermobility C0574974 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD009509 Knee joint laxity C0574996 phenotype C05 Musculoskeletal Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD009510 Spastic tetraparesis C0575059 disease C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T047 Disease or Syndrome 50 BXGD009511 Skeletal muscle tender C0575064 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 4 BXGD009512 Gait abnormality C0575081 group C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 312 BXGD009513 Equilibration disorder C0575090 phenotype C10 Nervous System Diseases Sign or Symptom T184 Sign or Symptom 22 BXGD009514 Deformity of spine C0575157 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 58 BXGD009515 Kyphoscoliosis deformity of spine C0575158 M41 disease C05 Musculoskeletal Diseases Anatomical Abnormality HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T190 Anatomical Abnormality 155 BXGD009516 Cervical kyphosis C0575170 phenotype C05 Musculoskeletal Diseases Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD009517 Long thorax C0575484 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 9 BXGD009518 Short sternum C0575497 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 9 BXGD009519 Hypertrophy of upper limb C0575518 phenotype Finding HP:0040064 Abnormality of limbs T033 Finding 1 BXGD009520 Thin clavicle C0575535 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 4 BXGD009521 Small hand C0575802 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 108 BXGD009522 Radial deviation of hand C0575803 phenotype C05 Musculoskeletal Diseases Finding HP:0040064 Abnormality of limbs T033 Finding 4 BXGD009523 Small finger C0575827 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD009524 Thumb deformity C0575897 phenotype C05 Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 8 BXGD009525 Knee joint valgus deformity C0576093 M21.06 disease C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 117 BXGD009526 Long foot C0576225 phenotype C05 Musculoskeletal Diseases Finding HP:0040064 Abnormality of limbs T033 Finding 19 BXGD009527 Short foot C0576226 phenotype Finding T033 Finding 116 BXGD009528 Narrow foot C0576227 phenotype C05 Musculoskeletal Diseases Finding HP:0040064 Abnormality of limbs T033 Finding 6 BXGD009529 Reflex, Anal, Absent C0576612 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 5 BXGD009530 Tonsil absent C0576999 phenotype Finding HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system T033 Finding 3 BXGD009531 Mass of body region C0577573 phenotype Sign or Symptom T184 Sign or Symptom 22 BXGD009532 C4 complement assay (procedure) C0577608 phenotype Laboratory Procedure T059 Laboratory Procedure 12 BXGD009533 Nut Hypersensitivity C0577620 disease C20 Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD009534 Allergy to metal C0577627 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009535 Carotid Atherosclerosis C0577631 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 219 BXGD009536 Quadriceps weakness C0577655 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T184 Sign or Symptom 15 BXGD009537 Infected hand C0577657 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD009538 Low Back Pain, Postural C0577660 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 2 BXGD009539 Disseminated squamous cell carcinoma C0577691 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD009540 Exercise-induced angina C0577698 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Sign or Symptom T184 Sign or Symptom 7 BXGD009541 Finding of body mass index C0578022 phenotype Finding T033 Finding 88 BXGD009542 Thin lips C0578038 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 99 BXGD009543 Antibiotic-associated diarrhea C0578159 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 14 BXGD009544 Adenocarcinoma of sigmoid colon C0578438 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD009545 Neck swelling C0578454 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD009546 Cyanotic attack C0578475 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0001574;HP:0002086 Abnormality of the integument; Abnormality of the respiratory system T184 Sign or Symptom 4 BXGD009547 Duodenal polyposis C0578477 disease Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T191 Neoplastic Process 5 BXGD009548 Skin dimple C0578531 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 5 BXGD009549 Cavitation of lung C0578537 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD009550 Dissection of proximal aorta C0578575 disease Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 26 BXGD009551 blue iris (physical finding) C0578626 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 28 BXGD009552 Madarosis of eyebrow C0578682 disease C23;C11;C17 Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T047 Disease or Syndrome 1 BXGD009553 Chronic idiopathic urticaria C0578870 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system T047 Disease or Syndrome 89 BXGD009554 Inflammation of large intestine C0578878 phenotype C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T047 Disease or Syndrome 12 BXGD009555 Cavovarus deformity of foot C0579144 phenotype C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Anatomical Abnormality T190 Anatomical Abnormality 6 BXGD009556 Portal hypertensive gastropathy C0580174 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 24 BXGD009557 3-Phosphoglycerate dehydrogenase deficiency C0580190 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD009558 Prothrombin time low C0580413 phenotype Finding T033 Finding 2 BXGD009559 Serum testosterone level abnormal C0580454 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 1 BXGD009560 Redundant skin C0581342 phenotype C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Pathologic Function HP:0001574 Abnormality of the integument T046 Pathologic Function 48 BXGD009561 Recurrent sinusitis C0581354 disease C01;C08;C09 Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0002715;HP:0000152;HP:0002086;HP:0000924 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the respiratory system; Abnormality of the skeletal system T047 Disease or Syndrome 41 BXGD009562 Acute intestinal obstruction C0581359 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009563 Recurrent cystitis C0581366 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119;HP:0002715 Abnormality of the genitourinary system; Abnormality of the immune system T047 Disease or Syndrome 4 BXGD009564 Single coronary vessel disease C0581374 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009565 Double coronary vessel disease C0581375 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009566 Decompensated cardiac failure C0581377 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD009567 Recurrent upper respiratory tract infection C0581381 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome HP:0002715;HP:0000152;HP:0002086 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the respiratory system T047 Disease or Syndrome 52 BXGD009568 Chronic anemia C0581384 D53.9 disease C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD009569 Chronic anxiety C0581386 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD009570 Chronic depression C0581391 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD009571 Exacerbation of multiple sclerosis C0581392 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009572 Tongue symptoms C0581867 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD009573 Late insomnia C0581874 phenotype C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 4 BXGD009574 Transient neurological symptoms C0581882 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD009575 Complete Hearing Loss C0581883 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding T033 Finding 20 BXGD009576 Acute asthma C0582415 disease C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 30 BXGD009577 Processing speed C0582591 phenotype Mental Process T041 Mental Process 7 BXGD009578 Choanal stenosis C0584837 phenotype C08;C07;C09 Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 14 BXGD009579 Factor V Leiden mutation C0584960 D68.51 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 86 BXGD009580 Homozygous Factor V Leiden mutation C0584983 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD009581 Heterozygous Factor V Leiden mutation C0584984 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD009582 Acute sciatica C0585051 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009583 Hemorrhagic pleural effusion C0585110 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009584 Retroperitoneal sarcoma C0585129 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 8 BXGD009585 Cutaneous hypersensitivity C0585186 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 31 BXGD009586 Infected ascites C0585187 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD009587 Minor oral aphthous ulceration C0585213 disease C23;C07 Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD009588 Alpha-Thalassemia Myelodysplasia Syndrome C0585216 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD009589 Multiple lacunar infarcts C0585229 disease C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009590 Hypoglossal Nerve Palsy C0585265 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009591 Periodic syndrome C0585274 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD009592 Squamous cell carcinoma of mouth C0585362 disease C06;C04;C07 Digestive System Diseases; Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 123 BXGD009593 Osteosarcoma of bone C0585442 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2247 BXGD009594 Chondromyxoid fibroma of bone C0585473 disease Neoplastic Process T191 Neoplastic Process 1 BXGD009595 Ewing's sarcoma of bone C0585474 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD009596 Pilomatrix carcinoma of skin C0585475 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD009597 X-Linked Infantile Nystagmus C0585539 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 6 BXGD009598 Myoclonus, Oculopalatal C0585540 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD009599 Downbeat nystagmus C0585544 phenotype C11;C10 Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 3 BXGD009600 Dysplasia of larynx C0585955 disease C08;C09 Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD009601 Laryngotracheomalacia C0585984 disease C16;C17;C05;C08;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Anatomical Abnormality HP:0002086 Abnormality of the respiratory system T190 Anatomical Abnormality 11 BXGD009602 Demyelination of spinal cord C0586256 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009603 Alcohol Withdrawal Seizures C0586323 disease C23;C10;C25 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 8 BXGD009604 Esophageal dysplasia C0586354 disease C06;C04 Digestive System Diseases; Neoplasms Disease or Syndrome T047 Disease or Syndrome 13 BXGD009605 Biliary Intraepithelial Neoplasia C0586358 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD009606 Moderate pancreatic duct dysplasia C0586364 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD009607 Parkinsonian tremor C0586392 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 2 BXGD009608 Skin symptom C0586407 phenotype Sign or Symptom T184 Sign or Symptom 19 BXGD009609 Raised TSH level C0586553 phenotype C19 Endocrine System Diseases Finding HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T033 Finding 13 BXGD009610 Bladder polyp C0586737 disease Neoplastic Process HP:0000119 Abnormality of the genitourinary system T191 Neoplastic Process 4 BXGD009611 Calf muscle weakness C0586738 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD009612 Varicella Zoster Virus Infection C0586989 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 10 BXGD009613 Right ventricular thrombus C0587043 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009614 Left ventricular thrombus C0587044 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009615 Anti-nuclear antibody measurement C0587178 phenotype Laboratory Procedure T059 Laboratory Procedure 3 BXGD009616 Muscle weakness of limb C0587246 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 42 BXGD009617 Costello syndrome (disorder) C0587248 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 50 BXGD009618 Mild depression C0588006 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 8 BXGD009619 Moderate depression C0588007 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD009620 Severe depression C0588008 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 46 BXGD009621 Nodular tenosynovitis C0588125 disease C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD009622 Postoperative myocardial infarction C0589368 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009623 Nonspecific abdominal pain C0589386 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD009624 Serum chloride level decreased (finding) C0595901 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 7 BXGD009625 cortex bone disorders C0595905 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD009626 Intraocular pressure disorder C0595921 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 304 BXGD009627 Serum calcium increased C0595928 phenotype C18 Nutritional and Metabolic Diseases Finding T033 Finding 1 BXGD009628 Aqueous Humor Disorders C0595936 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 85 BXGD009629 Stillbirth C0595939 P95 phenotype C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding T033 Finding 23 BXGD009630 Atypical absence seizure C0595948 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 17 BXGD009631 Drug exanthem C0595956 disease C17;C20;C25 Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 3 BXGD009632 Carcinoma of larynx C0595989 disease C04;C08;C09 Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process HP:0002664;HP:0002086 Neoplasm; Abnormality of the respiratory system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 456 BXGD009633 Roseola rash of secondary syphilis C0595993 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD009634 Idiopathic scoliosis C0595995 disease C05 Musculoskeletal Diseases Acquired Abnormality DOID:7 disease of anatomical entity T020 Acquired Abnormality 46 BXGD009635 Overjet, Dental C0596028 M26.29 phenotype C07 Stomatognathic Diseases Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 4 BXGD009636 acquired immunodeficiency C0596032 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD009637 Binge eating disorder C0596170 F50.81 phenotype F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 4 BXGD009638 Cancer Pain C0596240 G89.3 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 62 BXGD009639 Carcinogenesis C0596263 phenotype C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 6243 BXGD009640 Cardiovascular Infections C0596270 group C01;C14 Infections; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009641 Cerebrovascular Occlusion C0596298 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD009642 Chemical Carcinogenesis C0596321 phenotype C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 71 BXGD009643 clinical anxiety C0596344 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD009644 connective tissue hyperplasia C0596377 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009645 disabling disease C0596452 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 10 BXGD009646 Infectious Encephalitis C0596773 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009647 lipoprotein disorder C0596848 disease C18;C15 Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009648 mathematical ability C0596887 phenotype Mental Process T041 Mental Process 854 BXGD009649 myelinopathy C0596992 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009650 Neurogenic hypertension C0597048 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD009651 Obstructive asymmetric septal hypertrophy C0597124 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD009652 Islets of Langerhans hyperplasia C0597167 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0025031;HP:0000818 Abnormality of the digestive system; Abnormality of the endocrine system T046 Pathologic Function 12 BXGD009653 Viral Carcinogenesis C0597645 phenotype C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 7 BXGD009654 viral leukemogenesis C0597647 phenotype Neoplastic Process T191 Neoplastic Process 2 BXGD009655 Secondary antibody deficiency C0597744 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD009656 secondary immune deficiency C0597745 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD009657 high renin hypertension C0597853 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD009658 renin induced hypertension C0597854 disease Disease or Syndrome T047 Disease or Syndrome 11 BXGD009659 Juxtaglomerular cell hyperplasia C0597966 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD009660 Biliary stricture C0597984 disease C06 Digestive System Diseases Anatomical Abnormality T190 Anatomical Abnormality 17 BXGD009661 Encephalomyelopathy C0598106 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009662 Hypoglycorrhachia C0598121 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD009663 Harlequin type ichthyosis C0598226 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD009664 Diffuse cerebral atrophy C0598275 phenotype C10;F03 Nervous System Diseases; Mental Disorders Finding HP:0000707 Abnormality of the nervous system T033 Finding 34 BXGD009665 genetic hypertension C0598428 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 34 BXGD009666 intestinal angiodysplasia C0598480 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD009667 Inherited neuropathies C0598589 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 104 BXGD009668 Hyperhomocysteinemia C0598608 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 246 BXGD009669 Leukemogenesis C0598766 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 996 BXGD009670 Dyslipoproteinemias C0598784 phenotype C18 Nutritional and Metabolic Diseases Pathologic Function T046 Pathologic Function 24 BXGD009671 lung sarcoma C0598790 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD009672 Lymphoid neoplasm C0598798 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 30 BXGD009673 Monocytic leukemia C0598894 C93 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 71 BXGD009674 Tumor Initiation C0598935 phenotype C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 533 BXGD009675 Hyperornithinemia C0599035 phenotype C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD009676 glycosphingolipidoses C0599458 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009677 activation of latent virus C0599617 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD009678 stress related disorder C0599909 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD009679 Arterial Stiffness C0599949 phenotype Physiologic Function T039 Physiologic Function 1 BXGD009680 Waardenburg Anophthalmia Syndrome C0599973 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 8 BXGD009681 Congenital absence of spleen C0600031 Q89.01 disease C16;C06;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases Congenital Abnormality HP:0025031;HP:0002715;HP:0001626 Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system T019 Congenital Abnormality 80 BXGD009682 Acquired Kyphoscoliosis C0600033 disease C05 Musculoskeletal Diseases Acquired Abnormality T020 Acquired Abnormality 149 BXGD009683 Urinary outflow obstruction C0600039 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD009684 Chronic interstitial cystitis C0600040 N30.1 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 64 BXGD009685 Infective cystitis C0600041 disease C23;C13;C01;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 106 BXGD009686 Malignant Cystosarcoma Phyllodes C0600066 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 16 BXGD009687 Autotomy C0600074 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD009688 Ureter Carcinoma C0600079 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD009689 Toxic goiter C0600086 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009690 Obsessive compulsive behavior C0600104 R46.81 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 94 BXGD009691 Stromal tumor of ovary C0600113 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD009692 Testicular stromal tumor C0600114 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD009693 Acute hematogenous osteomyelitis C0600123 M86.0 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009694 Prolonged PR interval C0600125 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 5 BXGD009695 Prostate carcinoma C0600139 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4388 BXGD009696 Hot flushes C0600142 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 32 BXGD009697 Low Cardiac Output Syndrome C0600177 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function T046 Pathologic Function 1 BXGD009698 External Carotid Artery Diseases C0600178 group C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD009699 Cardiopulmonary Arrest C0600228 phenotype C14 Cardiovascular Diseases Pathologic Function HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T046 Pathologic Function 16 BXGD009700 heroin abuse C0600241 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 22 BXGD009701 Lung Diseases, Obstructive C0600260 group C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 104 BXGD009702 Morphine Abuse C0600272 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 8 BXGD009703 Periodontosis C0600298 K05.4 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD009704 Toxic Shock Syndrome C0600327 A48.3 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 61 BXGD009705 Subcorneal pustular dermatosis C0600336 L13.1 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD009706 Cocaine Dependence C0600427 F14.2 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 199 BXGD009707 Activated Protein C Resistance C0600433 D68.51 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 41 BXGD009708 Hepatopulmonary Syndrome C0600452 K76.81 disease C06;C08 Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 29 BXGD009709 Neurogenic Inflammation C0600467 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Injury or Poisoning T037 Injury or Poisoning 18 BXGD009710 Vascular Hemostatic Disorders C0600502 group C15;C14 Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD009711 Choroidal Neovascularization C0600518 phenotype C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function HP:0000478 Abnormality of the eye T046 Pathologic Function 31 BXGD009712 Ventricular Remodeling C0600519 phenotype C23 Pathological Conditions, Signs and Symptoms Organ or Tissue Function T042 Organ or Tissue Function 24 BXGD009713 Left Ventricle Remodeling C0600520 phenotype C23 Pathological Conditions, Signs and Symptoms Organ or Tissue Function T042 Organ or Tissue Function 21 BXGD009714 Manganese Poisoning C0677050 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 16 BXGD009715 CARCINOMA OF VULVA C0677055 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 72 BXGD009716 essential thrombocytopenia C0677060 disease C23;C20;C15 Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009717 Carcinoma testes C0677483 disease C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 11 BXGD009718 Congenital Nephrogenic Diabetes Insipidus C0677501 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD009719 Stomatocytosis Result C0677598 phenotype Laboratory or Test Result HP:0001871 Abnormality of blood and blood-forming tissues T034 Laboratory or Test Result 13 BXGD009720 Inspiratory stridor C0677600 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom HP:0002086 Abnormality of the respiratory system T184 Sign or Symptom 8 BXGD009721 Hashimoto Disease C0677607 E06.3 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818;HP:0002715 Abnormality of the endocrine system; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 335 BXGD009722 Chorioangioma C0677608 disease C04 Neoplasms Neoplastic Process HP:0001197;HP:0002664 Abnormality of prenatal development or birth; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD009723 Macular drusen C0677628 phenotype C11 Eye Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 4 BXGD009724 Gastro-esophageal reflux disease with esophagitis C0677659 K21.0 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 71 BXGD009725 Emotional problems C0677660 phenotype F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 13 BXGD009726 Indolent Adult Non-Hodgkin Lymphoma C0677728 disease Neoplastic Process T191 Neoplastic Process 9 BXGD009727 Aggressive Adult Non-Hodgkin Lymphoma C0677730 disease Neoplastic Process T191 Neoplastic Process 16 BXGD009728 Hereditary Breast and Ovarian Cancer Syndrome C0677776 disease C16;C04;C13;C17;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases Neoplastic Process DOID:630;DOID:225 genetic disease; syndrome T191 Neoplastic Process 74 BXGD009729 hereditary Wilms tumor C0677779 disease C16;C04;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD009730 Neurofibromatosis 1 and 2 (NF1 and NF2) C0677781 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD009731 Bilateral Malignant Neoplasm C0677861 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD009732 Brain Stem Glioma C0677865 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 29 BXGD009733 Brain Stem Neoplasms C0677866 group C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD009734 Epithelial ovarian cancer C0677886 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1224 BXGD009735 invasive cancer C0677898 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 146 BXGD009736 Progressive Neoplastic Disease C0677932 phenotype Neoplastic Process T191 Neoplastic Process 384 BXGD009737 Refractory cancer C0677936 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 184 BXGD009738 Sentinel node (disorder) C0677944 disease Disease or Syndrome T047 Disease or Syndrome 130 BXGD009739 Stage II Colorectal Cancer C0677948 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 33 BXGD009740 Stage III Colorectal Cancer C0677949 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 45 BXGD009741 Stage IV Colorectal Cancer C0677950 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 19 BXGD009742 Locally Advanced Malignant Neoplasm C0677984 disease Neoplastic Process T191 Neoplastic Process 11 BXGD009743 Friend leukemia C0678128 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 19 BXGD009744 Pemphigus neonatorum C0678185 L01.03 disease C16;C17;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009745 Anemia of inadequate production C0678199 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 10 BXGD009746 Terminal Ileitis C0678201 K50.0 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD009747 Regional enteritis C0678202 K50.90 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 46 BXGD009748 Complete hydatidiform mole C0678213 O01.9 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 61 BXGD009749 Breast Carcinoma C0678222 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0002664;HP:0000769 Neoplasm; Abnormality of the breast DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6776 BXGD009750 Congenital Epicanthus C0678230 disease Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 417 BXGD009751 Serum chloride level result C0678232 phenotype Laboratory or Test Result T034 Laboratory or Test Result 1 BXGD009752 polydrug use C0678255 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 7 BXGD009753 alcohol sensitivity C0678306 phenotype Finding T033 Finding 3 BXGD009754 drug substitution (abuse) C0678329 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD009755 alcohol effect C0678356 phenotype Disease or Syndrome T047 Disease or Syndrome 13 BXGD009756 prenatal alcohol exposure C0678807 phenotype Finding T033 Finding 5 BXGD009757 Brain Waves C0678909 phenotype Organ or Tissue Function T042 Organ or Tissue Function 14 BXGD009758 perseverative thinking C0679047 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD009759 Low self-esteem C0679136 R45.81 phenotype F01 Behavior and Behavior Mechanisms Finding HP:0000707 Abnormality of the nervous system T033 Finding 10 BXGD009760 Disease recurrence C0679254 phenotype Finding T033 Finding 1 BXGD009761 Polydrug abuse C0679272 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD009762 relief drinking C0679276 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD009763 familial alcoholism C0679293 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD009764 paternal alcoholism C0679294 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD009765 physical symptom C0679309 phenotype Sign or Symptom T184 Sign or Symptom 10 BXGD009766 Foodborne Disease C0679360 group C25 Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 1 BXGD009767 Tuberculosis, extrapulmonary C0679362 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 58 BXGD009768 neurodevelopmental anomaly C0679378 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 1 BXGD009769 vascular ischemia C0679395 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 12 BXGD009770 Vascular rupture C0679401 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD009771 Vascular stenosis C0679403 disease C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality T190 Anatomical Abnormality 15 BXGD009772 Gastrointestinal dysfunction C0679407 phenotype C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD009773 Lesion of stomach C0679408 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD009774 noninfectious hepatitis C0679412 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD009775 alcohol flush reaction C0679414 phenotype C23;C25;F03 Pathological Conditions, Signs and Symptoms; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 4 BXGD009776 iron loading anemia C0679424 disease C18;C15 Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009777 myeloblastosis C0679427 disease C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 72 BXGD009778 Disorder of olfactory system C0679441 group C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009779 Aggressive personality C0679484 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD009780 sexual deviance C0679499 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD009781 Recidivism C0680458 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 10 BXGD009782 Mental impairment C0683322 disease Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 67 BXGD009783 organic disease C0683324 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD009784 hazardous drinking C0683342 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 11 BXGD009785 Excessive drinking C0683357 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 15 BXGD009786 parental alcoholism C0683362 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD009787 inflammatory joint disease C0683381 disease Disease or Syndrome T047 Disease or Syndrome 33 BXGD009788 renin-dependent hypertension C0683382 disease C13;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009789 Myokymia C0684219 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 15 BXGD009790 Carcinoma of lung C0684249 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4081 BXGD009791 Bacterial sepsis C0684256 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 38 BXGD009792 Hemophilia, NOS C0684275 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 82 BXGD009793 Hypsarrhythmia C0684276 phenotype C10 Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 152 BXGD009794 Deficiency of phosphoglycerate kinase C0684324 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009795 Reasoning C0684328 phenotype Mental Process T041 Mental Process 11 BXGD009796 Ewings sarcoma-primitive neuroectodermal tumor (PNET) C0684337 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 117 BXGD009797 heart overload C0684338 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD009798 Benign neoplasm of sweat gland C0684354 D23 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD009799 Benign bone neoplasm C0684516 group C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process T191 Neoplastic Process 8 BXGD009800 Secondary malignant neoplasm of vertebral column C0684550 disease Neoplastic Process T191 Neoplastic Process 15 BXGD009801 Secondary malignant neoplasm of soft tissues C0684686 group C04 Neoplasms Neoplastic Process T191 Neoplastic Process 22 BXGD009802 Malignant neoplasm of muscle C0684743 C49 disease C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD009803 Secondary malignant neoplasm of axilla C0684830 disease Neoplastic Process T191 Neoplastic Process 10 BXGD009804 Chemical-induced asthma C0684913 disease C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD009805 Biventricular congestive heart failure C0685095 I50.82 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009806 Lenegre's disease C0685108 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009807 Secondary malignant neoplasm of heart C0685110 disease Neoplastic Process T191 Neoplastic Process 1 BXGD009808 Hemangioma of spleen C0685201 disease C04;C14 Neoplasms; Cardiovascular Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 3 BXGD009809 Congenital hypoplasia of radius C0685381 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 37 BXGD009810 Congenital Camptodactyly C0685409 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000924;HP:0003549;HP:0003011 Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T019 Congenital Abnormality 123 BXGD009811 Incomplete ossification of pubis C0685678 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD009812 Single naris C0685682 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 5 BXGD009813 Abnormal lung lobation C0685695 disease C08 Respiratory Tract Diseases Congenital Abnormality HP:0002086 Abnormality of the respiratory system T019 Congenital Abnormality 32 BXGD009814 Muscular ventricular septum defect C0685707 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 9 BXGD009815 Congenital dilatation of pulmonary artery C0685732 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD009816 Congenital absence of mandible C0685776 disease Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 14 BXGD009817 Cleft mandible C0685786 phenotype C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 1 BXGD009818 Cleft face C0685787 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 23 BXGD009819 Pure Gonadal Dysgenesis, 46, XX C0685837 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 8 BXGD009820 Gonadal dysgenesis XX type deafness C0685838 disease C23;C16;C13;C12;C10;C19;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome; Congenital Abnormality DOID:630 genetic disease T047;T019 Disease or Syndrome; Congenital Abnormality 14 BXGD009821 Congenital hypoplasia of ovary C0685840 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 44 BXGD009822 Monophthalmos C0685869 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality T019 Congenital Abnormality 6 BXGD009823 Splenic Hypoplasia C0685889 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Congenital Abnormality T019 Congenital Abnormality 18 BXGD009824 Congenital hypoplasia of thymus C0685891 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0000818;HP:0002715;HP:0001626 Abnormality of the endocrine system; Abnormality of the immune system; Abnormality of the cardiovascular system T019 Congenital Abnormality 34 BXGD009825 Congenital absence of thymus C0685894 disease C20 Immune System Diseases Congenital Abnormality HP:0000818;HP:0002715;HP:0001626 Abnormality of the endocrine system; Abnormality of the immune system; Abnormality of the cardiovascular system DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 6 BXGD009826 Food anaphylaxis C0685898 T78.0 disease C06;C20 Digestive System Diseases; Immune System Diseases Disease or Syndrome HP:0002715 Abnormality of the immune system T047 Disease or Syndrome 9 BXGD009827 Allergy to fruit C0685901 phenotype C06;C20 Digestive System Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009828 Smokeless tobacco keratosis C0685919 disease C01;C07 Infections; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009829 Malignant neoplasm of gastrointestinal tract C0685938 C26.9 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 423 BXGD009830 Metastatic Neoplasm to the Gallbladder C0686112 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD009831 Gender Dysphoria C0686346 phenotype F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 13 BXGD009832 Tardive Dyskinesia C0686347 G24.01 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 94 BXGD009833 Muscular Dystrophies, Limb-Girdle C0686353 G71.09 group C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature DOID:7 disease of anatomical entity T047 Disease or Syndrome 118 BXGD009834 CNS metastases C0686377 phenotype C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 102 BXGD009835 Secondary malignant neoplasm of lymph node C0686619 C77.9 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 2825 BXGD009836 Secondary malignant neoplasm of lymph nodes of neck C0686625 disease Neoplastic Process T191 Neoplastic Process 2 BXGD009837 Nephronophthisis C0687120 Q61.5 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:630 genetic disease T047 Disease or Syndrome 96 BXGD009838 Psychoticism C0687131 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 11 BXGD009839 heavy drinking C0687132 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 57 BXGD009840 Hemangioma of skin C0687140 disease C04;C17;C14 Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD009841 Pure gonadal dysgenesis C0687149 Q99.1 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T019 Congenital Abnormality 4 BXGD009842 Parathyroid Gland Adenocarcinoma C0687150 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0002664 Abnormality of the endocrine system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 74 BXGD009843 Acrocephalopolysyndactyly C0687154 Q87.0 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 3 BXGD009844 Central Diabetes Insipidus C0687720 disease C13;C12;C19 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 105 BXGD009845 Acanthocytosis C0687751 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 8 BXGD009846 Neurotic, stress-related and somatoform disorders C0694453 group F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD009847 Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99) C0694457 Q00-Q99 group Congenital Abnormality T019 Congenital Abnormality 1 BXGD009848 Moderate obesity C0694533 disease Disease or Syndrome T047 Disease or Syndrome 12 BXGD009849 Chronic atrial fibrillation C0694539 I48.2 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 31 BXGD009850 Cough variant asthma C0694548 J45.991 disease C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD009851 Community acquired pneumonia C0694549 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 75 BXGD009852 Recurrent pneumonia C0694550 disease C01;C08 Infections; Respiratory Tract Diseases Finding HP:0002715;HP:0002086 Abnormality of the immune system; Abnormality of the respiratory system T033 Finding 62 BXGD009853 Right lower quadrant pain C0694551 R10.31 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 3 BXGD009854 Excessive daytime somnolence C0694563 phenotype Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 39 BXGD009855 extranodal lymphoma C0694571 disease Neoplastic Process T191 Neoplastic Process 17 BXGD009856 Blood thyroid stimulating hormone analysis C0696098 phenotype Laboratory Procedure T059 Laboratory Procedure 6 BXGD009857 Serum ferritin measurement C0696113 phenotype Laboratory Procedure T059 Laboratory Procedure 10 BXGD009858 Chronic progressive chorea C0699728 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009859 Hereditary Chorea C0699731 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009860 Progressive chorea C0699734 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD009861 Sensory Neuropathy, Hereditary C0699739 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 19 BXGD009862 Congenital muscular dystrophy (disorder) C0699743 G71.09 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0003011 Abnormality of the musculature DOID:7 disease of anatomical entity T047 Disease or Syndrome 54 BXGD009863 Infection of ear C0699744 group C09 Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD009864 Cancer Relapse C0699753 disease Neoplastic Process T191 Neoplastic Process 48 BXGD009865 Acute alcoholism C0699757 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD009866 Colon Carcinoma C0699790 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2832 BXGD009867 Stomach Carcinoma C0699791 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3720 BXGD009868 Disaccharidase deficiency C0699848 disease C06;C18 Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009869 Carcinoma of bladder C0699885 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2104 BXGD009870 Malignant Female Reproductive System Neoplasm C0699889 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 47 BXGD009871 Skin carcinoma C0699893 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 136 BXGD009872 airway disease C0699949 disease C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 198 BXGD009873 Idiopathic hypertrophic subaortic stenosis C0700053 I42.1 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 7 BXGD009874 Decreased tendon reflex C0700078 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 10 BXGD009875 Central neuroblastoma C0700095 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2419 BXGD009876 Alcoholic blackout C0700178 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD009877 Pulmonary aspiration C0700198 phenotype C08 Respiratory Tract Diseases Pathologic Function HP:0002086 Abnormality of the respiratory system T046 Pathologic Function 13 BXGD009878 Multiple nevi C0700199 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD009879 Presyncope C0700200 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0001626 Abnormality of the cardiovascular system T184 Sign or Symptom 5 BXGD009880 Dyssomnias C0700201 disease C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 236 BXGD009881 Structural Clinical Interview for DSM-III C0700216 phenotype Diagnostic Procedure T060 Diagnostic Procedure 5 BXGD009882 Serum creatinine raised C0700225 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 27 BXGD009883 Brachial Plexus Neuropathies C0700251 G54.0 group C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD009884 Hypoxemia C0700292 R09.02 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0002086 Abnormality of the respiratory system T033 Finding 52 BXGD009885 Heinz Body Anemias C0700299 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD009886 Candidiasis, Vulvovaginal C0700345 B37.3 disease C13;C01 Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 57 BXGD009887 Organophosphate poisoning C0700359 disease C25 Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 5 BXGD009888 Ependymoblastoma C0700367 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 19 BXGD009889 Pulmonary amyloidosis C0700376 disease C18;C08 Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009890 Total iron binding capacity function C0700379 phenotype Clinical Attribute T201 Clinical Attribute 20 BXGD009891 Sick Headaches C0700438 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD009892 Congenital nystagmus C0700501 H55.01 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T019 Congenital Abnormality 15 BXGD009893 Acquired hypothyroidism C0700502 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD009894 Radiculopathy C0700594 M54.1 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 25 BXGD009895 Spinal Muscular Atrophies of Childhood C0700595 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD009896 Anxiety state C0700613 F41.1 disease F03;F01 Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 40 BXGD009897 Strudwick syndrome C0700635 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 17 BXGD009898 Focal nodular hyperplasia of liver C0700636 K76.89 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 39 BXGD009899 Pyloric Stenosis, Hypertrophic C0700639 Q40.0 disease C06 Digestive System Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 26 BXGD009900 Adrenogenital disorder C0701163 E25.9 disease C19 Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD009901 Acute anterior uveitis C0701807 H20.0 disease C11 Eye Diseases Disease or Syndrome HP:0002715;HP:0000478 Abnormality of the immune system; Abnormality of the eye T047 Disease or Syndrome 90 BXGD009902 Poor short-term memory C0701811 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD009903 Choledocholithiasis C0701818 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD009904 Staggering gait C0701824 R26.0 phenotype C23;C10;C26 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Wounds and Injuries Sign or Symptom T184 Sign or Symptom 3 BXGD009905 Acute mastoiditis C0701825 H70.0 disease C01;C05;C09 Infections; Musculoskeletal Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009906 Perinatal death C0701826 phenotype C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding T033 Finding 1 BXGD009907 Coronary cataract C0702108 disease C11 Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 2 BXGD009908 Primary atypical pneumonia C0702135 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD009909 Congenital absence of external ear C0702139 Q16.0 disease C16;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality HP:0000598 Abnormality of the ear T019 Congenital Abnormality 11 BXGD009910 Thalassemia trait C0702157 D56.3 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD009911 Constitutional aplastic anemia C0702159 D61.0 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7;DOID:225 disease of anatomical entity; syndrome T047 Disease or Syndrome 5 BXGD009912 Acne C0702166 L70.9 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 167 BXGD009913 Atrichia C0702167 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD009914 Acrania C0702169 Q00.0 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 31 BXGD009915 Basophilia C0702266 D72.824 disease Disease or Syndrome T047 Disease or Syndrome 12 BXGD009916 Parasympathomimetic Disorders C0728821 group C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009917 Congenital pes cavus C0728829 Q66.7 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality HP:0040064 Abnormality of limbs T019 Congenital Abnormality 19 BXGD009918 Serum albumin level C0728877 phenotype Laboratory or Test Result T034 Laboratory or Test Result 8 BXGD009919 Absent finger C0728895 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 26 BXGD009920 Disorder of circulatory system C0728936 I99.9 group C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD009921 Decreased circulating parathyroid hormone level C0729198 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 4 BXGD009922 Dissecting aneurysm of the thoracic aorta C0729233 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 57 BXGD009923 Osteochondritis juvenilis C0729346 M92.9 disease C17;C05 Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD009924 Subfertility C0729353 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 91 BXGD009925 Bacterial respiratory infection C0729518 group C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009926 Bacterial upper respiratory infection C0729519 group C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009927 Bacterial oral infection C0729527 group Disease or Syndrome T047 Disease or Syndrome 4 BXGD009928 Viral respiratory infection C0729531 group C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 33 BXGD009929 Genital infection C0729552 group C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 11 BXGD009930 Infection of digestive system C0729555 group C23;C06;C01 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 8 BXGD009931 Floating-harbor syndrome C0729582 disease C23;C16;C05;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 4 BXGD009932 Infective meningitis C0729584 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009933 Arteriovenous graft C0729665 disease Acquired Abnormality T020 Acquired Abnormality 10 BXGD009934 Corneal Infection C0729777 disease C01;C11 Infections; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD009935 Serpiginous choroiditis C0729842 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD009936 Villous adenoma of rectum C0730199 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD009937 Superficial femoral artery occlusion C0730203 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD009938 Myopic macular degeneration C0730271 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD009939 Mild non-proliferative diabetic retinopathy C0730276 disease C11;C19;C14 Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD009940 Severe nonproliferative diabetic retinopathy C0730278 disease C11;C19;C14 Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD009941 Proliferative diabetic retinopathy - quiescent C0730281 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD009942 Clinically significant macular edema C0730284 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD009943 Diabetic macular edema C0730285 disease C11;C19;C14 Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 92 BXGD009944 Ischemic maculopathy C0730286 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD009945 Choroidal ischemia C0730289 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 1 BXGD009946 Cone Dystrophy C0730290 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 48 BXGD009947 Macular dystrophy C0730292 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 52 BXGD009948 North Carolina macular dystrophy C0730294 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD009949 BASAL LAMINAR DRUSEN (disorder) C0730295 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD009950 Capillary hemangioma of retina C0730303 disease C04;C14 Neoplasms; Cardiovascular Diseases Neoplastic Process HP:0000707;HP:0002664;HP:0000152;HP:0000478;HP:0001626 Abnormality of the nervous system; Neoplasm; Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system T191 Neoplastic Process 15 BXGD009951 Cavernous hemangioma of retina C0730304 disease C04;C15;C14 Neoplasms; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process HP:0002664;HP:0000152;HP:0000478;HP:0001626 Neoplasm; Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system T191 Neoplastic Process 3 BXGD009952 Cancer-Associated Retinopathy C0730307 disease C04;C11 Neoplasms; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD009953 Melanoma-Associated Retinopathy C0730308 disease C04;C11 Neoplasms; Eye Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD009954 Inherited optic neuropathy C0730309 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009955 Chronic central serous chorioretinopathy C0730314 disease C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD009956 Acute central serous chorioretinopathy C0730315 disease C01;C11 Infections; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD009957 Punctate inner choroidopathy C0730321 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD009958 Multiple evanescent white dot syndrome C0730322 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD009959 Central Serous Chorioretinopathy C0730328 H35.71 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 211 BXGD009960 Microalbuminuria C0730345 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 30 BXGD009961 Disorder of macula of retina C0730362 group C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 49 BXGD009962 Idiopathic polypoidal choroidal vasculopathy C0730364 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD009963 Anhydramnios C0730379 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD009964 Chronic Post-Traumatic Stress Disorder C0730525 F43.12 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD009965 Emotional abuse C0730557 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 12 BXGD009966 Moderate chronic obstructive pulmonary disease C0730605 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009967 Severe chronic obstructive pulmonary disease C0730607 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 23 BXGD009968 Hypophosphatemic Rickets, X-Linked Dominant C0733682 disease C16;C18;C13;C05;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 54 BXGD009969 Carcinoma of glottis C0740083 disease C04;C08;C09 Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD009970 Anal and rectal conditions C0740266 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD009971 Pelvic prolapse C0740268 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD009972 Bile duct carcinoma C0740277 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 91 BXGD009973 Cerebellar atrophy C0740279 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 321 BXGD009974 Multiple allergies C0740281 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD009975 5q-syndrome C0740302 disease C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 45 BXGD009976 COPD exacerbation C0740304 disease Disease or Syndrome T047 Disease or Syndrome 33 BXGD009977 Throat cancer C0740339 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD009978 Amyloidosis, Familial C0740340 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD009979 Germ Cell Cancer C0740345 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 44 BXGD009980 Back Pain with Radiation C0740363 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD009981 Gastrointestinal lymphoma C0740372 disease C06;C04;C20;C15 Digestive System Diseases; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD009982 Middle Cerebral Artery Thrombosis C0740376 disease C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 35 BXGD009983 Varicella zoster C0740380 disease Disease or Syndrome T047 Disease or Syndrome 71 BXGD009984 Aneurysm, Middle Cerebral Artery C0740385 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD009985 Aneurysm, Anterior Communicating Artery C0740386 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009986 Aneurysm, Posterior Cerebral Artery C0740387 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD009987 Middle Cerebral Artery Occlusion C0740391 disease C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality T020 Acquired Abnormality 626 BXGD009988 Infarction, Middle Cerebral Artery C0740392 disease C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 145 BXGD009989 Hyperuricemia C0740394 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667 disease of metabolism T047 Disease or Syndrome 196 BXGD009990 Auditory and visual hallucinations C0740399 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD009991 Limb defects C0740404 group Congenital Abnormality T019 Congenital Abnormality 67 BXGD009992 Incarcerated hernia C0740406 disease C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality T020 Acquired Abnormality 1 BXGD009993 Psychotic behaviour C0740409 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD009994 Chronic back pain C0740418 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 10 BXGD009995 Postsurgical menopause C0740421 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 6 BXGD009996 Stomach fullness C0740432 phenotype Sign or Symptom T184 Sign or Symptom 3 BXGD009997 Acute diarrhea C0740441 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 4 BXGD009998 Diabetic peripheral neuropathy C0740447 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 129 BXGD009999 Granulomatous disorder C0740451 group Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 26 BXGD010000 Malignant neoplasm of kidney C0740457 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 664 BXGD010001 Biliary carcinoma C0740476 disease Neoplastic Process T191 Neoplastic Process 1 BXGD010002 Undifferentiated High Grade Pleomorphic Sarcoma of Bone C0740479 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD010003 Acute abdominal pain C0740577 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 6 BXGD010004 Abdominal symptom C0740651 phenotype Sign or Symptom HP:0025031 Abnormality of the digestive system T184 Sign or Symptom 17 BXGD010005 Multiple abscesses C0740690 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD010006 ABUSE NEGLECT C0740703 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD010007 Chronic metabolic acidosis C0740749 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 6 BXGD010008 Acute pneumonia C0740766 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 29 BXGD010009 AIDS defining illness C0740830 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD010010 AIDS related illness C0740842 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD010011 Upper airway obstruction C0740852 disease Finding HP:0002086 Abnormality of the respiratory system T033 Finding 16 BXGD010012 Substance abuse problem C0740858 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 185 BXGD010013 Hypokalemic hypochloremic metabolic alkalosis C0740896 disease Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 3 BXGD010014 Hypokalemic metabolic alkalosis C0740898 disease Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 10 BXGD010015 allergic symptom C0740903 phenotype Sign or Symptom T184 Sign or Symptom 37 BXGD010016 Allergy to grass pollen C0740919 disease C08;C20;C09 Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD010017 Elevated maternal serum alpha-fetoprotein C0740927 phenotype Laboratory or Test Result HP:0001939 Abnormality of metabolism/homeostasis T034 Laboratory or Test Result 5 BXGD010018 Acute anaemia C0740985 disease Disease or Syndrome T047 Disease or Syndrome 18 BXGD010019 Chronic iron deficiency anaemia C0740989 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD010020 anemia hemoglobin C0740992 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD010021 Anemia, normochromic macrocytic C0740997 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010022 Atypical angina C0741026 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010023 Refractory angina C0741032 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD010024 anxiety acute C0741146 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD010025 Aortic Aneurysm, Ruptured C0741160 I71.8 disease C14;C26 Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD010026 aortic stenosis symptomatic C0741183 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD010027 arthritis symptoms C0741237 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD010028 aspirin sensitivity C0741250 phenotype Disease or Syndrome T047 Disease or Syndrome 10 BXGD010029 Adult onset asthma C0741260 disease Disease or Syndrome T047 Disease or Syndrome 48 BXGD010030 Intermittent ataxia C0741270 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD010031 ATRIAL ENLARGEMENT C0741276 disease Disease or Syndrome T047 Disease or Syndrome 11 BXGD010032 atrial fibrillation new onset C0741281 disease Disease or Syndrome T047 Disease or Syndrome 18 BXGD010033 back pain mechanical C0741395 phenotype Sign or Symptom T184 Sign or Symptom 5 BXGD010034 Bandemia C0741439 D72.825 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010035 Elevated total bilirubin C0741494 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 17 BXGD010036 bladder symptoms C0741548 phenotype Sign or Symptom T184 Sign or Symptom 5 BXGD010037 BODY ACHE C0741585 phenotype Sign or Symptom T184 Sign or Symptom 4 BXGD010038 Brachial artery occlusion C0741621 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010039 Premenopausal breast cancer C0741682 disease Neoplastic Process T191 Neoplastic Process 51 BXGD010040 breast fullness C0741709 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD010041 Recurrent bronchitis C0741796 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome HP:0002715;HP:0000152;HP:0002086 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the respiratory system T047 Disease or Syndrome 29 BXGD010042 Poorly differentiated carcinoma C0741899 phenotype Neoplastic Process T191 Neoplastic Process 64 BXGD010043 carcinoma sarcoma C0741900 disease Neoplastic Process T191 Neoplastic Process 1 BXGD010044 Cardiac defects C0741916 group Disease or Syndrome T047 Disease or Syndrome 62 BXGD010045 cardiac event C0741923 phenotype Disease or Syndrome T047 Disease or Syndrome 82 BXGD010046 cardiac symptom C0741933 phenotype Sign or Symptom T184 Sign or Symptom 9 BXGD010047 Cardiovascular Pathology C0741949 disease Disease or Syndrome T047 Disease or Syndrome 23 BXGD010048 carotid disease C0741975 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD010049 Catheter infection C0742006 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD010050 cellulitis superficial C0742022 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010051 Cerebellar vermis atrophy C0742028 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 32 BXGD010052 cerebellar function C0742034 disease Disease or Syndrome T047 Disease or Syndrome 14 BXGD010053 Cerebellar lesion NOS C0742035 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD010054 Cerebellar signs C0742038 phenotype Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 24 BXGD010055 Mass lesion of brain C0742078 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD010056 Cerebritis C0742115 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD010057 cervical cancer metastasis C0742132 disease Neoplastic Process T191 Neoplastic Process 35 BXGD010058 cervical mass C0742176 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD010059 Radiculopathy, Cervical C0742186 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010060 Cervical spinal cord atrophy C0742191 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 2 BXGD010061 Acute Chest Syndrome C0742343 disease C16;C08;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 405 BXGD010062 Cholestasis, chronic C0742395 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD010063 Central nervous system lesion C0742468 disease Disease or Syndrome T047 Disease or Syndrome 34 BXGD010064 colon cancer liver metastasis C0742558 disease Neoplastic Process T191 Neoplastic Process 14 BXGD010065 colon (non-specific) lesion C0742597 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD010066 colon (non-specific) polyp hyperplastic C0742608 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 1 BXGD010067 High-output congestive heart failure C0742747 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 3 BXGD010068 Conus Medullaris Syndrome C0742803 G95.81 disease C10;C26 Nervous System Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 3 BXGD010069 Acute cough C0742857 phenotype Sign or Symptom T184 Sign or Symptom 6 BXGD010070 cyst benign C0742960 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD010071 Eosinophilic cystitis C0742965 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 1 BXGD010072 Abnormal Deep Tendon Reflex C0743002 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 5 BXGD010073 Depression, psychotic C0743072 disease C10;F03;F01 Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 11 BXGD010074 depression anxiety disorder C0743073 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD010075 Granulomatous dermatitis C0743086 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD010076 developmentally delayed C0743101 phenotype Disease or Syndrome T047 Disease or Syndrome 11 BXGD010077 Intractable diarrhea C0743178 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 13 BXGD010078 diarrhea persistent C0743188 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010079 Chronic drug abuse C0743244 disease C23;C25;F03 Pathological Conditions, Signs and Symptoms; Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD010080 Acute dyspnea C0743323 phenotype Sign or Symptom T184 Sign or Symptom 4 BXGD010081 Focal Dystonia C0743332 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 21 BXGD010082 Recurrent ear infections C0743360 group Finding HP:0002715 Abnormality of the immune system T033 Finding 11 BXGD010083 emotional dysfunction C0743479 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 8 BXGD010084 eyes dry chronic C0743746 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD010085 Disorder characterized by fever C0743841 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 9 BXGD010086 Acute febrile illness C0743842 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD010087 flexor tenosynovitis C0744058 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010088 Diabetic foot infection C0744130 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD010089 gastric ulcer benign C0744301 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD010090 gastritis h pylori C0744310 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD010091 Gastroenterocolitis C0744314 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010092 Gastrointestinal arteriovenous malformation C0744321 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality HP:0025031;HP:0001626 Abnormality of the digestive system; Abnormality of the cardiovascular system T190 Anatomical Abnormality 3 BXGD010093 Gastrointestinal polyps C0744333 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T191 Neoplastic Process 7 BXGD010094 Abnormality of the genital system C0744356 phenotype C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 36 BXGD010095 Immune-complex glomerulonephritis C0744421 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD010096 Disseminated infection caused by Neisseria gonorrhoeae C0744451 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010097 gout tophaceous C0744466 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD010098 Gram-negative bacteremia C0744471 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 8 BXGD010099 Gram-positive bacteremia C0744474 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD010100 growth hormone treatment C0744483 disease Disease or Syndrome T047 Disease or Syndrome 20 BXGD010101 Tenosynovitis of hand C0744595 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010102 Head and neck cancer metastatic C0744619 disease Neoplastic Process T191 Neoplastic Process 12 BXGD010103 Metastatic Head and Neck Squamous Cell Carcinoma C0744620 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 17 BXGD010104 Complex congenital heart disease C0744669 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD010105 heart inflammation C0744673 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD010106 Liver sarcoidosis C0744822 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010107 hepatitis cryptogenic C0744848 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010108 hepatitis immune C0744855 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD010109 Metastatic hepatocellular carcinoma C0744869 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 29 BXGD010110 Recurrent singultus C0744897 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 3 BXGD010111 hip pain chronic C0744939 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010112 homicidal C0745031 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD010113 Hypereosinophilia C0745091 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 39 BXGD010114 Hyperlipoproteinemia Type IIa C0745103 E78.00 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 201 BXGD010115 hyperparathyroid C0745106 disease Disease or Syndrome T047 Disease or Syndrome 14 BXGD010116 Macular hyperpigmentation C0745109 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 2 BXGD010117 Resistant hypertensive disorder C0745130 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 47 BXGD010118 Isolated systolic hypertension C0745133 disease Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 22 BXGD010119 Hypertensive emergency C0745136 I16.1 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010120 Hypertensive urgency C0745138 I16.0 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010121 Hypoglycemia, acute C0745150 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010122 Hypoglycaemic episode C0745153 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD010123 Immunoglobulin deficiency C0745242 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD010124 Infantile apnea C0745261 disease C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010125 infertility tubal factor C0745287 disease Disease or Syndrome T047 Disease or Syndrome 19 BXGD010126 irregular bleeding C0745411 N92.6 phenotype Sign or Symptom T184 Sign or Symptom 3 BXGD010127 ischemic attack C0745413 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD010128 Thrombosis of internal jugular vein C0745497 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD010129 knee pain chronic C0745571 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010130 knee symptoms C0745581 phenotype Sign or Symptom T184 Sign or Symptom 7 BXGD010131 Dilated left ventricle C0745674 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD010132 Multiple lipomata C0745730 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0003549 Neoplasm; Abnormality of connective tissue T191 Neoplastic Process 38 BXGD010133 End Stage Liver Disease C0745744 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 80 BXGD010134 Hepatic granuloma C0745754 D86.89 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD010135 Lumbar spondylolisthesis C0746025 phenotype C05 Musculoskeletal Diseases Acquired Abnormality T020 Acquired Abnormality 10 BXGD010136 Chronic lung disease C0746102 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system T047 Disease or Syndrome 133 BXGD010137 lung disease granulomatous C0746104 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD010138 lupus cutaneous C0746306 disease Disease or Syndrome T047 Disease or Syndrome 16 BXGD010139 lymph node infected C0746316 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD010140 malaria relapse C0746365 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010141 manic symptom C0746402 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 16 BXGD010142 mass lesion C0746408 phenotype Neoplastic Process T191 Neoplastic Process 15 BXGD010143 Recurrent meningitis C0746495 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome HP:0000707;HP:0002715 Abnormality of the nervous system; Abnormality of the immune system T047 Disease or Syndrome 6 BXGD010144 metabolic disturbance C0746556 disease Disease or Syndrome T047 Disease or Syndrome 29 BXGD010145 Mitral valve endocarditis C0746604 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010146 muscle pain chronic C0746668 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD010147 Generalized muscle weakness C0746674 M62.81 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom HP:0003011 Abnormality of the musculature T184 Sign or Symptom 126 BXGD010148 Acute myocardial ischemia C0746731 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 32 BXGD010149 Chronic nasal congestion C0746757 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010150 Cancer of Neck C0746787 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 25 BXGD010151 Focal Neurologic Deficits C0746857 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 6 BXGD010152 Chronic neutropenia C0746882 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD010153 Febrile Neutropenia C0746883 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 58 BXGD010154 Hyperpigmented nevi C0746889 phenotype C04 Neoplasms Finding HP:0001574 Abnormality of the integument T033 Finding 3 BXGD010155 Obstructive ventilatory defect C0746984 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD010156 Generalized osteopenia C0747078 disease Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 3 BXGD010157 Chronic otitis C0747083 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD010158 Recurrent otitis media C0747085 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome HP:0002715;HP:0000598 Abnormality of the immune system; Abnormality of the ear T047 Disease or Syndrome 120 BXGD010159 Ovarian failure C0747102 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 39 BXGD010160 pacemaker ddd C0747122 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010161 Uncontrolled pain C0747149 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD010162 Biliary acute pancreatitis C0747194 K85.1 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010163 pancreatitis biliary C0747195 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010164 pancreatitis idiopathic C0747198 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD010165 Erythematous papule C0747241 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD010166 Paranoid ideation C0747249 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 9 BXGD010167 Progressive spastic paraparesis C0747251 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T184 Sign or Symptom 14 BXGD010168 Parasitic infection C0747256 group C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 39 BXGD010169 Malignant tumour of parotid gland C0747273 C07 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD010170 Periodontal infection C0747479 disease Disease or Syndrome T047 Disease or Syndrome 17 BXGD010171 Recurrent peritonitis C0747526 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD010172 Pharyngeal Carcinoma C0747548 disease C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process T191 Neoplastic Process 30 BXGD010173 Recurrent pharyngitis C0747556 phenotype C01;C08;C07;C09 Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Sign or Symptom HP:0002715;HP:0000152;HP:0002086 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the respiratory system T184 Sign or Symptom 8 BXGD010174 pituitary incidentaloma C0747602 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010175 Recurrent aspiration pneumonia C0747651 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome HP:0002715;HP:0002086 Abnormality of the immune system; Abnormality of the respiratory system T047 Disease or Syndrome 11 BXGD010176 Recurrent bacterial pneumonia C0747667 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010177 Postobstructive pneumonia C0747690 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010178 Pneumothorax, recurrent C0747708 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD010179 polyglandular failure C0747739 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD010180 polyp benign C0747742 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD010181 Polysubstance abuse C0747752 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD010182 preeclampsia postpartum C0747797 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010183 Malaria, antepartum C0747820 disease Disease or Syndrome T047 Disease or Syndrome 15 BXGD010184 early pregnancy C0747845 phenotype Disease or Syndrome T047 Disease or Syndrome 273 BXGD010185 Nodular prostate C0748012 N40 disease C12 Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD010186 Bacterial prostatitis C0748023 disease C01;C12 Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010187 pruritus chronic C0748035 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD010188 Erythrodermic psoriasis C0748052 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD010189 psychiatric hospitalization C0748061 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD010190 psychosocial impairment C0748071 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD010191 psychosocial stressor C0748073 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 18 BXGD010192 Pulmonary Pathology C0748168 disease Disease or Syndrome T047 Disease or Syndrome 29 BXGD010193 Recurrent pyelonephritis C0748199 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119;HP:0002715 Abnormality of the genitourinary system; Abnormality of the immune system T047 Disease or Syndrome 5 BXGD010194 respiratory compensation C0748351 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD010195 Acute respiratory distress C0748355 R06.03 disease C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 147 BXGD010196 Right atrial enlargement C0748427 disease Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 1 BXGD010197 Arthritis, Sacroiliac C0748473 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 3 BXGD010198 Sarcoma, metastatic C0748505 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD010199 Scleroderma, Limited C0748540 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 17 BXGD010200 nocturnal seizures C0748605 phenotype Finding T033 Finding 2 BXGD010201 Recurrent seizure C0748607 G40.909 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 44 BXGD010202 sick sinus C0748694 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010203 Chronic sinus disease C0748720 disease Disease or Syndrome HP:0002715;HP:0000152;HP:0000924 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the skeletal system T047 Disease or Syndrome 1 BXGD010204 Allergic sinusitis C0748726 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010205 Metastatic small cell carcinoma C0748861 disease Neoplastic Process T191 Neoplastic Process 2 BXGD010206 spinal cord involvement C0748903 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD010207 Moderately differentiated squamous cell carcinoma C0748968 disease Neoplastic Process T191 Neoplastic Process 7 BXGD010208 Thrombosis of subclavian vein C0749087 disease C08;C14 Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010209 Hematoma, Subdural, Acute C0749098 phenotype C23;C10;C14;C26 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases; Wounds and Injuries Pathologic Function T046 Pathologic Function 1 BXGD010210 Active suicidal ideation C0749133 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD010211 Supraglottic Squamous Cell Carcinoma C0749163 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD010212 Orthostatic syncope C0749201 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 2 BXGD010213 temporal pain C0749263 phenotype Disease or Syndrome T047 Disease or Syndrome 4 BXGD010214 Thoracolumbar scoliosis C0749379 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 20 BXGD010215 Chronic thrombocytopenia C0749393 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010216 Thyroid Agenesis C0749420 E03.1 disease C16;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality HP:0000818 Abnormality of the endocrine system DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 11 BXGD010217 Thyroid Hurthle Cell Carcinoma C0749424 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD010218 Benign thyroid nodule C0749467 disease Neoplastic Process T191 Neoplastic Process 2 BXGD010219 Thyroid cold nodule C0749470 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010220 thyroid nodule solitary C0749474 disease C04;C19 Neoplasms; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010221 toe necrosis C0749557 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD010222 tonsillopharyngitis C0749591 disease C01;C08;C07;C09 Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010223 Upper Extremity Deformities, Congenital C0749794 group C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD010224 Upper motor neuron signs C0749870 phenotype Sign or Symptom T184 Sign or Symptom 7 BXGD010225 Granulomatous uveitis C0750046 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD010226 VAGINOSIS C0750114 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 1 BXGD010227 Occlusive vascular disease C0750145 disease Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 7 BXGD010228 Vaso-Occlusive Crisis C0750151 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 30 BXGD010229 vasomotor symptom C0750152 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD010230 Non-sustained ventricular tachycardia C0750194 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD010231 Sustained ventricular tachycardia C0750197 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD010232 Malabsorption of Vitamin B12 C0750292 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 3 BXGD010233 Vomiting, recurrent C0750325 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD010234 Coumarin Resistance C0750384 phenotype C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD010235 Proximal weakness C0750403 phenotype Sign or Symptom T184 Sign or Symptom 11 BXGD010236 Wound, non-healed C0750433 phenotype C26 Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 4 BXGD010237 Yeast infection C0750466 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD010238 Finding of creatine kinase level C0750863 phenotype Finding T033 Finding 2 BXGD010239 Monocyte count result C0750880 phenotype Laboratory or Test Result T034 Laboratory or Test Result 139 BXGD010240 Adrenal Cancer C0750887 C74.9 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 20 BXGD010241 Alzheimer's Disease, Focal Onset C0750900 disease C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 99 BXGD010242 Alzheimer Disease, Early Onset C0750901 G30.0 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 174 BXGD010243 Amino Acid Metabolism, Inherited Disorders C0750905 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD010244 Tactile Amnesia C0750906 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 17 BXGD010245 Amnestic State C0750907 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 17 BXGD010246 Pre-Ictal Amnesia C0750908 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD010247 Retrograde Memory Loss C0750909 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD010248 Pre-Ictal Memory Loss C0750910 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD010249 Aphasia, Auditory Discriminatory C0750917 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD010250 Aphasia, Commisural C0750918 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD010251 Aphasia, Post-Ictal C0750919 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD010252 Aphasia, Post-Traumatic C0750920 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD010253 Dejerine-Lichtheim Phenomenon C0750921 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD010254 Apraxia, Developmental Verbal C0750927 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction DOID:630;DOID:150 genetic disease; disease of mental health T048 Mental or Behavioral Dysfunction 80 BXGD010255 Apraxia, Facial-Oral C0750928 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD010256 Arnold-Chiari Malformation, Type I C0750929 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 41 BXGD010257 Cerebral Astrocytoma C0750935 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 32 BXGD010258 Intracranial Astrocytoma C0750936 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 26 BXGD010259 Ataxia, Appendicular C0750937 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 86 BXGD010260 Tremor, Rubral C0750940 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 18 BXGD010261 Vertebrogenic Pain Syndrome C0750949 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 1 BXGD010262 Lenticulostriate Disorders C0750951 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD010263 Biliary Tract Cancer C0750952 C24.9 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 167 BXGD010264 Urinary Bladder Neurogenesis C0750953 phenotype C23;C13;C12;C10 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010265 Neurogenic Urinary Bladder, Spastic C0750955 phenotype C23;C13;C12;C10 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010266 Blindness, Monocular C0750958 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010267 Central Nervous System Metabolic Disorders C0750968 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010268 Vasogenic Brain Edema C0750969 phenotype C10 Nervous System Diseases Pathologic Function T046 Pathologic Function 8 BXGD010269 Cytotoxic Brain Edema C0750970 phenotype C10 Nervous System Diseases Pathologic Function T046 Pathologic Function 8 BXGD010270 Brain Tumor, Primary C0750974 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 122 BXGD010271 Recurrent Brain Neoplasm C0750977 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 39 BXGD010272 Primary malignant neoplasm of brain C0750979 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 41 BXGD010273 Internal Carotid Artery Diseases C0750986 group C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD010274 Arterial Diseases, Common Carotid C0750987 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD010275 Common Carotid Artery Thrombosis C0750988 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010276 External Carotid Artery Thrombosis C0750989 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010277 Internal Carotid Artery Thrombosis C0750990 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010278 Catatonia, Malignant C0750992 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 5 BXGD010279 Schizophreniform Catatonia C0750993 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD010280 Cerebellar Hemiataxia C0750994 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 4 BXGD010281 Aneurysm, Anterior Cerebral Artery C0751000 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010282 Aneurysm, Basilar Artery C0751001 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010283 Aneurysm, Posterior Communicating Artery C0751002 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system T047 Disease or Syndrome 2 BXGD010284 Brain Aneurysm C0751003 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system T047 Disease or Syndrome 4 BXGD010285 Giant Intracranial Aneurysm C0751004 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD010286 Mycotic Aneurysm, Intracranial C0751005 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010287 Intracranial Atherosclerosis C0751007 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD010288 Intracranial Arteriovenous Malformation, Ruptured C0751008 disease C16;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD010289 Cerebral Infarction, Left Hemisphere C0751010 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD010290 Cerebral Infarction, Right Hemisphere C0751011 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD010291 Anterior Choroidal Artery Infarction C0751012 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD010292 Subcortical Infarction C0751014 disease C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD010293 Carotid Circulation Transient Ischemic Attack C0751019 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD010294 Transient Ischemic Attack, Vertebrobasilar Circulation C0751020 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD010295 Crescendo Transient Ischemic Attacks C0751021 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD010296 Brain Stem Ischemia, Transient C0751022 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD010297 Cerebral Palsy, Mixed C0751024 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010298 Cerebral Palsy, Rolandic Type C0751025 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010299 Hereditary Motor and Sensory Neuropathy Type I C0751036 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 19 BXGD010300 Cockayne Syndrome, Type III C0751037 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD010301 Cockayne Syndrome, Type II C0751038 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 34 BXGD010302 Cockayne Syndrome, Type I C0751039 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 80 BXGD010303 Color Blindness, Inherited C0751042 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD010304 Monochromatopsia C0751043 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD010305 Communication Disorders, Developmental C0751050 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD010306 Non-epileptic convulsion C0751056 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 102 BXGD010307 Seizure, Febrile, Complex C0751057 R56.01 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 19 BXGD010308 Cranial Neuropathies, Multiple C0751059 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010309 Craniopharyngioma, Child C0751061 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD010310 Deafness, Acquired C0751068 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD010311 Familial Dementia C0751071 disease C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 18 BXGD010312 Frontotemporal Lobar Degeneration C0751072 disease C18;C10;F03 Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 195 BXGD010313 Diabetic Neuralgia C0751074 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 36 BXGD010314 Cancer of Digestive System C0751075 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 71 BXGD010315 Trisomy 21, Mitotic Nondisjunction C0751081 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD010316 Dyskinesia, Medication-Induced C0751088 phenotype C23;C10;C25 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 15 BXGD010317 Dystonia, Limb C0751093 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 42 BXGD010318 Single Seizure C0751110 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 102 BXGD010319 Awakening Epilepsy C0751111 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 83 BXGD010320 Subclinical Seizure C0751112 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010321 Cryptogenic Tonic-Clonic Epilepsy C0751117 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD010322 Epilepsy, Tonic-Clonic, Familial C0751118 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD010323 Epilepsy, Tonic-Clonic, Symptomatic C0751119 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD010324 Benign Infantile Myoclonic Epilepsy C0751120 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD010325 Infantile Severe Myoclonic Epilepsy C0751122 G40.83 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 63 BXGD010326 Atonic Absence Seizures C0751123 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 102 BXGD010327 Epilepsy, Absence, Atypical C0751124 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD010328 Facial Palsy, Upper Motor Neuron C0751141 phenotype C23;C10;C07 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD010329 Facial Palsy, Lower Motor Neuron C0751142 phenotype C23;C10;C07 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD010330 Hemifacial Paralysis C0751143 phenotype C23;C10;C07 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD010331 Fasciculation, Benign C0751144 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD010332 FRAXA Syndrome C0751156 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 8 BXGD010333 FRAXE Syndrome C0751157 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD010334 UDPglucose 4-epimerase deficiency disease C0751161 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD010335 Adult Glycogen Storage Disease Type II C0751172 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010336 Glycogen Storage Disease Type II, Infantile C0751173 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010337 Glycogen Storage Disease Type II, Juvenile C0751174 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010338 Cancer of Head C0751177 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 35 BXGD010339 Orthostatic Headache C0751186 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 7 BXGD010340 Periorbital Headache C0751187 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 5 BXGD010341 Retro-Ocular Headache C0751189 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 5 BXGD010342 Sharp Headache C0751190 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 5 BXGD010343 Vertex Headache C0751192 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 5 BXGD010344 Hemiplegia, Post-Ictal C0751195 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD010345 Fulminant Hepatic Failure with Cerebral Edema C0751197 disease C06;C18;C10 Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD010346 Hepatic Stupor C0751198 disease C06;C18;C10 Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD010347 Cystathionine beta-Synthase Deficiency Disease C0751202 disease C16;C18;C17;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 27 BXGD010348 Akinetic-Rigid Variant of Huntington Disease C0751207 disease C16;C10;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 12 BXGD010349 Juvenile Huntington Disease C0751208 disease C16;C10;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 12 BXGD010350 Hyperalgesia, Primary C0751211 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 84 BXGD010351 Hyperalgesia, Secondary C0751212 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 88 BXGD010352 Tactile Allodynia C0751213 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 114 BXGD010353 Hyperalgesia, Thermal C0751214 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 154 BXGD010354 Hyperesthesia, Tactile C0751215 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD010355 Hyperesthesia, Thermal C0751216 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD010356 Hyperkinesia, Generalized C0751217 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 32 BXGD010357 Inappropriate ACTH Secretion Syndrome C0751220 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD010358 Hypersomnia, Recurrent C0751226 G47.13 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 2 BXGD010359 Hypersomnolence C0751229 phenotype C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 7 BXGD010360 Hypothalamic Dysfunction Syndromes C0751230 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD010361 Illusions, Visual C0751246 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD010362 Chronic Insomnia C0751249 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 6 BXGD010363 Psychophysiological Insomnia C0751250 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 5 BXGD010364 Secondary Insomnia C0751251 phenotype C10;F03 Nervous System Diseases; Mental Disorders Sign or Symptom T184 Sign or Symptom 4 BXGD010365 Sleep Initiation Dysfunction C0751252 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 4 BXGD010366 Creutzfeldt-Jakob Disease, Familial C0751254 A81.09 disease C01;C10;F03 Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 22 BXGD010367 Auditory Processing Disorder, Central C0751257 H93.25 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD010368 Adult Learning Disorders C0751262 group C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 29 BXGD010369 Learning Disturbance C0751263 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 29 BXGD010370 Learning Disabilities C0751265 F81.9 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 103 BXGD010371 Encephalopathy, Subacute Necrotizing, Infantile C0751267 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 9 BXGD010372 Encephalopathy, Subacute Necrotizing, Juvenile C0751268 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD010373 Infantile Globoid Cell Leukodystrophy C0751273 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD010374 Metachromatic leukodystrophy, juvenile type C0751276 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD010375 Metachromatic Leukodystrophy, Infant C0751278 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD010376 Metachromatic Leukodystrophy, Adult-Type (disorder) C0751279 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD010377 Cystic Periventricular Leukomalacia C0751280 disease C16;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010378 Maple Syrup Urine Disease, Thiamine Responsive C0751285 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD010379 Desmoplastic Medulloblastoma C0751291 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 54 BXGD010380 Age-Related Memory Disorders C0751292 group C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 43 BXGD010381 Memory Disorder, Semantic C0751293 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 43 BXGD010382 Memory Disorder, Spatial C0751294 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 43 BXGD010383 Memory Loss C0751295 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 163 BXGD010384 Leptomeningeal Neoplasms C0751297 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 17 BXGD010385 Cerebral Convexity Meningioma C0751303 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD010386 Parasagittal Meningioma C0751304 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD010387 Acquired Meningomyelocele C0751316 phenotype C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Acquired Abnormality DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T020 Acquired Abnormality 4 BXGD010388 Multiple Sclerosis, Acute Fulminating C0751324 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 45 BXGD010389 Unilateral Hypotonia C0751330 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 8 BXGD010390 Progressive Proximal Myelopathic Muscular Atrophy C0751334 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD010391 Scapuloperoneal Form of Spinal Muscular Atrophy C0751335 G12.1 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD010392 Distal Muscular Dystrophies C0751336 G71.09 group C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 31 BXGD010393 X-Linked Emery-Dreifuss Muscular Dystrophy C0751337 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 20 BXGD010394 Myasthenia Gravis, Generalized C0751339 disease C04;C20;C10 Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD010395 Myasthenia Gravis, Ocular C0751340 disease C04;C20;C10 Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD010396 Infectious Myelitis C0751341 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD010397 Myelitis, Postinfectious C0751343 disease C04;C01;C20;C10 Neoplasms; Infections; Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010398 Myoclonus Simplex C0751348 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD010399 Myoclonus, Eyelid C0751349 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 7 BXGD010400 Myoclonus, Lower Extremity C0751350 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD010401 Myoclonus, Segmental C0751351 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD010402 Myoclonus, Nocturnal C0751352 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 1 BXGD010403 Myoclonus, Upper Extremity C0751353 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD010404 Myoclonus, Action C0751354 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 6 BXGD010405 Polymyoclonus C0751355 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD010406 Idiopathic Inflammatory Myopathies C0751356 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 106 BXGD010407 Myositis, Focal C0751357 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD010408 Myotonic Phenomenon C0751358 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 3 BXGD010409 Percussion Myotonia C0751359 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 5 BXGD010410 Becker Generalized Myotonia C0751360 G71.12 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD010411 Narcolepsy-Cataplexy Syndrome C0751362 G47.411 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 30 BXGD010412 Cancer, Embryonal C0751364 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 18 BXGD010413 Cancer, Embryonal and Mixed C0751365 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 15 BXGD010414 Radiation-Induced Cancer C0751366 disease C04;C26 Neoplasms; Wounds and Injuries Neoplastic Process T191 Neoplastic Process 8 BXGD010415 Neuralgia, Ilioinguinal C0751371 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 16 BXGD010416 Nerve Pain C0751372 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 18 BXGD010417 Paroxysmal Nerve Pain C0751373 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 16 BXGD010418 Schwannomatosis, Plexiform C0751374 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD010419 Neurologic Dysfunction C0751377 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 6 BXGD010420 Neurologic Signs C0751378 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 13 BXGD010421 Foley-Denny-Brown Syndrome C0751381 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD010422 Juvenile Neuronal Ceroid Lipofuscinosis C0751383 E75.4 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 52 BXGD010423 Cancer of Nose C0751394 C76.0 disease C04;C05;C08;C09 Neoplasms; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process HP:0002664;HP:0000152;HP:0002086 Neoplasm; Abnormality of head or neck; Abnormality of the respiratory system T191 Neoplastic Process 3 BXGD010424 Mixed Oligodendroglioma-Ependymoma C0751395 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 7 BXGD010425 Well Differentiated Oligodendroglioma C0751396 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 270 BXGD010426 Familial Olivopontocerebellar Atrophy C0751398 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD010427 Ophthalmoparesis C0751401 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom HP:0000478 Abnormality of the eye T184 Sign or Symptom 61 BXGD010428 Post-Traumatic Osteoporosis C0751406 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 61 BXGD010429 Pain, Migratory C0751407 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 50 BXGD010430 Suffering, Physical C0751408 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 50 BXGD010431 Upper Extremity Paresis C0751409 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 6 BXGD010432 Lower Extremity Paresis C0751410 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 3 BXGD010433 Painful Paresthesias C0751412 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD010434 Parkinson Disease, Secondary Vascular C0751414 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD010435 Atherosclerotic Parkinsonism C0751415 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD010436 Pelvic Cancer C0751416 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD010437 Hemispatial Neglect C0751421 R41.4 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD010438 Hereditary Autoinflammatory Diseases C0751422 group C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD010439 Classical phenylketonuria C0751434 E70.0 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 42 BXGD010440 Hyperphenylalaninaemia C0751435 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 30 BXGD010441 Hyperphenylalaninemia, Non-Phenylketonuric C0751436 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD010442 Adenohypophyseal Diseases C0751437 group C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010443 Posterior pituitary disease C0751438 group C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010444 Encephalitis, Polio C0751445 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010445 Poliomyelitis, Nonpoliovirus C0751446 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010446 Poliomyelitis, Preparalytic C0751447 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010447 Polyneuropathy, Familial C0751448 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD010448 Developmental Psychomotor Disorders C0751456 group C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 7 BXGD010449 Flaccid Quadriplegia C0751460 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010450 Paralysis, Spinal, Quadriplegic C0751461 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010451 Nerve Root Compression C0751463 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010452 Phonophobia C0751466 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 18 BXGD010453 Bulbocavernosus Reflex, Decreased C0751468 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 5 BXGD010454 Bulbocavernousus Reflex Absent C0751469 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 5 BXGD010455 Palmo-Mental Reflex C0751470 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 6 BXGD010456 Reflex, Anal, Decreased C0751471 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 5 BXGD010457 Reflex, Ankle, Abnormal C0751472 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 5 BXGD010458 Reflex, Ankle, Decreased C0751473 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 5 BXGD010459 Reflex, Biceps, Abnormal C0751474 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 5 BXGD010460 Reflex, Biceps, Decreased C0751475 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 5 BXGD010461 Reflex, Gag, Decreased C0751476 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 5 BXGD010462 Reflex, Knee, Abnormal C0751477 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 5 BXGD010463 Reflex, Knee, Decreased C0751478 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 5 BXGD010464 Reflex, Moro, Asymmetric C0751479 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 5 BXGD010465 Reflex, Triceps, Abnormal C0751480 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 5 BXGD010466 Reflex, Triceps, Decreased C0751481 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 5 BXGD010467 Familial Retinoblastoma C0751483 disease C04;C11 Neoplasms; Eye Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD010468 Sporadic Retinoblastoma C0751484 disease C04;C11 Neoplasms; Eye Diseases Neoplastic Process T191 Neoplastic Process 7 BXGD010469 Adult Sandhoff Disease C0751489 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010470 Infantile Sandhoff Disease C0751490 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010471 Juvenile Sandhoff Disease C0751491 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010472 Convulsive Seizures C0751494 R56.9 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 117 BXGD010473 Seizures, Focal C0751495 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 210 BXGD010474 Seizures, Sensory C0751496 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 102 BXGD010475 Petrous Sinus Thrombophlebitis C0751500 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010476 Intracranial Sinus Thrombophlebitis C0751501 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010477 Petrous Sinus Thrombosis C0751502 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010478 Insufficient Sleep Syndrome C0751505 F51.12 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD010479 REM Sleep Deprivation C0751506 phenotype C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 9 BXGD010480 Sleep Fragmentation C0751507 phenotype C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Pathologic Function T046 Pathologic Function 1 BXGD010481 Long Sleeper Syndrome C0751508 phenotype C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 7 BXGD010482 Short Sleeper Syndrome C0751509 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 8 BXGD010483 Sleep-Related Neurogenic Tachypnea C0751510 phenotype C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 7 BXGD010484 Subwakefullness Syndrome C0751511 phenotype C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 7 BXGD010485 Dysglossia C0751512 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 3 BXGD010486 Rhinolalia C0751513 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 3 BXGD010487 Verbal Fluency Disorders C0751514 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD010488 Status Epilepticus, Subclinical C0751522 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 69 BXGD010489 Non-Convulsive Status Epilepticus C0751523 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 71 BXGD010490 Simple Partial Status Epilepticus C0751524 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 68 BXGD010491 Stuttering, Childhood C0751528 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom DOID:150 disease of mental health T184 Sign or Symptom 3 BXGD010492 Stuttering, Developmental C0751529 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom DOID:150 disease of mental health T184 Sign or Symptom 13 BXGD010493 Subarachnoid Hemorrhage, Aneurysmal C0751530 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function T046 Pathologic Function 8 BXGD010494 Syncopal Episode C0751534 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 7 BXGD010495 Syncope, Cardiogenic C0751535 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD010496 Tangier Disease Neuropathy C0751544 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD010497 Malignant neoplasm of thymus C0751552 C37 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD010498 Childhood Tic Disorders C0751553 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 2 BXGD010499 Motor Tic Disorders C0751554 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 2 BXGD010500 Pulsatile Tinnitus C0751559 H93.A disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000598 Abnormality of the ear T047 Disease or Syndrome 23 BXGD010501 Malignant neoplasm tonsil C0751560 C09 disease C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 22 BXGD010502 Pill Rolling Tremor C0751564 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 9 BXGD010503 Tremor, Semirhythmic C0751565 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 9 BXGD010504 Genitourinary Cancer C0751569 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 60 BXGD010505 Cancer of Urinary Tract C0751571 C68.9 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 65 BXGD010506 Vertebrobasilar Dolichoectasia C0751572 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 4 BXGD010507 Paralysis, Unilateral, Vocal Cord C0751575 phenotype C23;C08;C10;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Finding HP:0000707;HP:0001608 Abnormality of the nervous system; Abnormality of the voice T033 Finding 1 BXGD010508 Partial Paralysis (Paresis) Vocal Cords C0751576 disease C23;C08;C10;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000707;HP:0001608 Abnormality of the nervous system; Abnormality of the voice T047 Disease or Syndrome 10 BXGD010509 Encephalitis, West Nile Fever C0751583 A92.31 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 4 BXGD010510 West Nile Fever Meningitis C0751584 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010511 West Nile Fever Meningoencephalitis C0751585 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010512 West Nile Fever Myelitis C0751586 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010513 CADASIL Syndrome C0751587 I67.850 disease C23;C16;C10;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 40 BXGD010514 Benign Supratentorial Neoplasms C0751588 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD010515 Cancer, Supratentorial C0751589 C71.0 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD010516 Primary Supratentorial Neoplasms C0751590 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD010517 Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease C0751595 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010518 Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal C0751596 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010519 Ataxia with Lactic Acidosis, Type I C0751597 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD010520 Hereditary Autosomal Dominant Spastic Paraplegia C0751602 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 27 BXGD010521 Autosomal Recessive Hereditary Spastic Paraplegia C0751603 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD010522 Hereditary X-Linked Recessive Spastic Paraplegia C0751604 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD010523 Adult Acute Lymphocytic Leukemia C0751606 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 860 BXGD010524 Intracranial Arachnoid Cysts C0751615 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010525 Semilobar Holoprosencephaly C0751617 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 17 BXGD010526 Central Nervous System Neoplasms, Primary C0751620 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD010527 Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related C0751622 disease C05;C10;C15 Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010528 Toxoplasmosis, Central Nervous System C0751629 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010529 Carotid Artery Plaque C0751633 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality T020 Acquired Abnormality 41 BXGD010530 Carotid Ulcer C0751634 phenotype C10;C14 Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality T020 Acquired Abnormality 5 BXGD010531 Common Carotid Artery Stenosis C0751635 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD010532 External Carotid Artery Stenosis C0751636 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD010533 Cryptogenic Partial Complex Epilepsy C0751640 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010534 Epilepsy, Symptomatic, Partial Complex C0751641 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010535 Epilepsy, Anterior Fronto-Polar C0751642 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010536 Epilepsy, Orbito-Frontal C0751643 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010537 Human Transmissible Spongiform Encephalopathies, Inherited C0751645 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010538 Recurrent Low Back Pain C0751648 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 2 BXGD010539 Mitochondrial Diseases C0751651 group C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 284 BXGD010540 Nemaline Myopathy, Autosomal Dominant C0751656 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010541 Nemaline Myopathy, Autosomal Recessive C0751657 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD010542 Canavan Disease, Familial Form C0751663 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010543 Canavan Disease, Neonatal C0751664 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010544 Canavan Disease, Sporadic Form C0751665 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010545 Canavan Disease, Infantile C0751666 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010546 Canavan Disease, Juvenile C0751667 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010547 Lymphangioleiomyomatosis C0751674 J84.81 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process HP:0002715;HP:0002664;HP:0002086;HP:0001626 Abnormality of the immune system; Neoplasm; Abnormality of the respiratory system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T191 Neoplastic Process 96 BXGD010548 Cerebral Primitive Neuroectodermal Tumor C0751675 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD010549 Basal Cell Cancer C0751676 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 64 BXGD010550 Ganglioglioma, Intracranial C0751679 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD010551 Malignant Squamous Cell Neoplasm C0751688 disease C04 Neoplasms Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:14566 disease of cellular proliferation T191 Neoplastic Process 193 BXGD010552 Peripheral Nerve Sheath Neoplasm C0751689 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 22 BXGD010553 Malignant Peripheral Nerve Sheath Tumor C0751690 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 261 BXGD010554 Perineurioma C0751691 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 18 BXGD010555 Multiple Hemangioblastomas C0751692 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD010556 Post-Traumatic Vegetative State C0751696 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010557 Minimally Conscious State C0751699 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD010558 Hypokinesia, Antiorthostatic C0751701 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 3 BXGD010559 Primary Progressive Nonfluent Aphasia C0751706 disease C23;C18;C10;F03 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 21 BXGD010560 Peroxisomal Dysfunction, General C0751708 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010561 Peroxisomal Dysfunction, Multiple C0751709 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010562 Peroxisomal Dysfunction, Single C0751710 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010563 Anterior Ischemic Optic Neuropathy C0751711 disease C11;C10;C14 Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010564 Inclusion Body Myopathy, Sporadic C0751713 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 84 BXGD010565 Adult Neuroaxonal Dystrophy C0751716 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010566 Juvenile Neuroaxonal Dystrophy C0751717 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010567 Late Infantile Neuroaxonal Dystrophy C0751718 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010568 Intracranial Hypotension, Essential C0751731 G96.811 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010569 Degenerative Diseases, Spinal Cord C0751733 group C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 40 BXGD010570 Metabolic Disorder, Central Nervous System, Acquired C0751743 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010571 Brain Diseases, Metabolic, Acquired C0751744 group C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010572 Hyperglycinemia, Nonketotic, Type III C0751747 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD010573 Nonketotic Hyperglycinemia C0751748 E72.51 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 21 BXGD010574 Argininosuccinic Acid Synthetase Deficiency Disease, Partial C0751750 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010575 Argininosuccinic Acid Synthetase Deficiency, Complete C0751751 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010576 Carbamoyl-Phosphate Synthase I Deficiency Disease C0751753 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 18 BXGD010577 Hypersomnolence, Idiopathic C0751757 G47.11 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 7 BXGD010578 Advanced Sleep Phase Syndrome C0751758 G47.22 disease C10;F03;C24 Nervous System Diseases; Mental Disorders; Occupational Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD010579 Non-24 Hour Sleep-Wake Disorder C0751759 disease C10;F03;C24 Nervous System Diseases; Mental Disorders; Occupational Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD010580 Shift-Work Sleep Disorder C0751760 disease C10;F03;C24 Nervous System Diseases; Mental Disorders; Occupational Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD010581 Upper Airway Resistance Sleep Apnea Syndrome C0751761 disease C08;C10 Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010582 Sleep Bruxism C0751771 disease C10;F03;C07 Nervous System Diseases; Mental Disorders; Stomatognathic Diseases Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 7 BXGD010583 REM Sleep Behavior Disorder C0751772 G47.52 disease C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 46 BXGD010584 Nocturnal Myoclonus Syndrome C0751774 G47.61 disease C10 Nervous System Diseases Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 4 BXGD010585 Atypical Inclusion-Body Disease C0751776 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 17 BXGD010586 Familial Progressive Myoclonic Epilepsy C0751777 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 17 BXGD010587 Myoclonic Epilepsies, Progressive C0751778 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 48 BXGD010588 Action Myoclonus-Renal Failure Syndrome C0751779 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 20 BXGD010589 Biotin-Responsive Encephalopathy C0751780 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 17 BXGD010590 Dentatorubral-Pallidoluysian Atrophy C0751781 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 95 BXGD010591 May-White Syndrome C0751782 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 17 BXGD010592 Lafora Disease C0751783 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 92 BXGD010593 Lafora Body Disease, Late Onset C0751784 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010594 Unverricht-Lundborg Syndrome C0751785 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 56 BXGD010595 Reflex Epilepsy, Audiogenic C0751791 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 31 BXGD010596 Intracranial Hematoma, Traumatic C0751797 phenotype C10;C14;C26 Nervous System Diseases; Cardiovascular Diseases; Wounds and Injuries Pathologic Function T046 Pathologic Function 1 BXGD010597 Carotid Artery, Internal, Dissection C0751815 disease C10;C14;C26 Nervous System Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 4 BXGD010598 Septic Phlebitis, Sagittal Sinus C0751823 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD010599 Sagittal Sinus Thrombophlebitis C0751824 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD010600 Gait Disorder, Sensorimotor C0751829 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010601 Gait Disorders, Neurologic C0751830 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010602 Gait, Frontal C0751831 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 4 BXGD010603 Gait, Widebased C0751832 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 4 BXGD010604 Gait Ataxia C0751837 R26.0 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 172 BXGD010605 Middle Cerebral Artery Embolus C0751845 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 35 BXGD010606 Left Middle Cerebral Artery Infarction C0751846 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 35 BXGD010607 Embolic Infarction, Middle Cerebral Artery C0751847 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 35 BXGD010608 Thrombotic Infarction, Middle Cerebral Artery C0751848 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 35 BXGD010609 Right Middle Cerebral Artery Infarction C0751849 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 35 BXGD010610 Arsenic Encephalopathy C0751851 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 62 BXGD010611 Arsenic Induced Polyneuropathy C0751852 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 62 BXGD010612 Mercury Encephalopathy C0751855 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 2 BXGD010613 Mad Hatter Disease C0751856 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 2 BXGD010614 Mercurial Neuroanesthenia C0751857 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 2 BXGD010615 Mercury Psychosis C0751858 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD010616 Lead Poisoning, Nervous System C0751859 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 2 BXGD010617 Lead Poisoning, Nervous System, Adult C0751863 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 1 BXGD010618 MPTP-Induced Degeneration of the Striatum C0751864 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD010619 Alcohol-Induced Disorders, Nervous System C0751865 disease C10;C25 Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 2 BXGD010620 Alcohol Withdrawal-Induced Major Motor Seizure C0751868 phenotype C23;C10;C25 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD010621 Status Epilepticus, Alcohol Withdrawal-Induced C0751869 phenotype C23;C10;C25 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD010622 Heredodegenerative Disorders, Nervous System C0751870 group C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD010623 Autoimmune Diseases of the Nervous System C0751871 group C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD010624 Vasculitis, Central Nervous System C0751878 disease C20;C10;C14 Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD010625 Primary CNS Vasculitis C0751881 disease C20;C10;C14 Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010626 Myasthenic Syndromes, Congenital C0751882 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 57 BXGD010627 Congenital Myasthenic Syndromes, Postsynaptic C0751883 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD010628 Congenital Myasthenic Syndromes, Presynaptic C0751884 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD010629 Myasthenic Syndromes, Congenital, Slow Channel C0751885 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD010630 Brain Stem Neoplasms, Primary C0751886 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD010631 Medullary Neoplasms C0751887 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 8 BXGD010632 Mesencephalic Neoplasms C0751888 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD010633 Pontine Tumors C0751889 group C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD010634 Posterior Fossa Hemorrhage C0751893 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function T046 Pathologic Function 5 BXGD010635 Vasospasm, Intracranial C0751895 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD010636 Tic, Gestural C0751898 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD010637 Tic, Transient C0751899 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD010638 Tic, Motor C0751900 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 6 BXGD010639 Tic, Vocal C0751901 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 4 BXGD010640 Vestibular Neuronitis C0751908 A88.1 disease C10;C09 Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD010641 Paraneoplastic Encephalomyelitis C0751912 disease C04;C10 Neoplasms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD010642 Paraneoplastic Cerebellar Degeneration, Anti-Yo-Associated C0751913 disease C04;C10 Neoplasms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010643 Acquired Neuromyotonia C0751919 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010644 Median Neuropathy C0751922 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD010645 Neuralgia-Neuritis, Sciatic Nerve C0751924 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010646 Sciatic Nerve Palsy C0751925 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010647 Neuromuscular Junction Diseases C0751950 group C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD010648 Central Core Myopathy (disorder) C0751951 G71.29 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 44 BXGD010649 Anterior Circulation Brain Infarction C0751952 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD010650 Brain Infarction, Posterior Circulation C0751953 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD010651 Venous Infarction, Brain C0751954 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD010652 Brain Infarction C0751955 disease C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 114 BXGD010653 Acute Cerebrovascular Accidents C0751956 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 155 BXGD010654 Lymphoma, Lymphocytic, Intermediate C0751958 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD010655 Multiple Sclerosis, Primary Progressive C0751964 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 37 BXGD010656 Multiple Sclerosis, Secondary Progressive C0751965 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 20 BXGD010657 Multiple Sclerosis, Relapsing-Remitting C0751967 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 206 BXGD010658 Hypocatalasemia C0752048 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010659 Autosomal Dominant Juvenile Parkinson Disease C0752097 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 28 BXGD010660 Autosomal Dominant Parkinsonism C0752098 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 34 BXGD010661 Autosomal Recessive Parkinsonism C0752100 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 33 BXGD010662 Parkinsonism, Experimental C0752101 disease C10 Nervous System Diseases Experimental Model of Disease T050 Experimental Model of Disease 28 BXGD010663 Familial Juvenile Parkinsonism C0752104 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 28 BXGD010664 Parkinsonism, Juvenile C0752105 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 40 BXGD010665 Brain Diseases, Metabolic, Inherited C0752107 group C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010666 Brain Diseases, Metabolic, Inborn C0752109 group C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010667 Central Nervous System Inborn Metabolic Diseases C0752110 group C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010668 Spinocerebellar Ataxia Type 1 C0752120 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 102 BXGD010669 Spinocerebellar Ataxia Type 2 C0752121 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 76 BXGD010670 Spinocerebellar Ataxia Type 4 C0752122 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 36 BXGD010671 Spinocerebellar Ataxia Type 5 C0752123 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 48 BXGD010672 Spinocerebellar Ataxia Type 6 (disorder) C0752124 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 64 BXGD010673 Spinocerebellar Ataxia Type 7 C0752125 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 78 BXGD010674 Spinal Cord Ischemia C0752130 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 35 BXGD010675 Intracranial Thrombosis C0752143 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD010676 Brain Thrombosis C0752144 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD010677 Chronic Daily Headache C0752147 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010678 Headache, Intractable C0752149 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD010679 Central Nervous System Vascular Malformations C0752155 group C16;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Anatomical Abnormality T190 Anatomical Abnormality 2 BXGD010680 Dural Arteriovenous Fistula C0752156 disease C16;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Anatomical Abnormality T190 Anatomical Abnormality 17 BXGD010681 Hemangioma, Cavernous, Central Nervous System C0752160 disease C16;C04;C10;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD010682 Cavernous Hemangioma, Extracerebral C0752161 disease C16;C04;C10;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD010683 Cavernous Hemangioma, Intracerebral C0752164 disease C16;C04;C10;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD010684 Bardet-Biedl Syndrome C0752166 Q87.89 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 86 BXGD010685 Ballismus C0752196 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD010686 Adult-Onset Dystonias C0752197 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD010687 Adult-Onset Idiopathic Focal Dystonias C0752198 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD010688 Adult-Onset Idiopathic Torsion Dystonias C0752199 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD010689 Autosomal Dominant Familial Dystonia C0752200 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD010690 Autosomal Recessive Familial Dystonia C0752201 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD010691 Childhood Onset Dystonias C0752202 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD010692 Dystonia, Primary C0752203 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD010693 Dystonia, Secondary C0752205 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD010694 Dystonias, Sporadic C0752206 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD010695 Familial Dystonia C0752207 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD010696 Pseudodystonia C0752208 disease C10 Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 7 BXGD010697 Dyskinesias, Paroxysmal C0752210 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 15 BXGD010698 Lyme Neuroborreliosis C0752235 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 11 BXGD010699 Rathke Cleft Cysts C0752244 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 7 BXGD010700 Muscle Disease Manifestations C0752251 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD010701 Neuromuscular Manifestations C0752252 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 3 BXGD010702 Impairment, Light Touch Sensation C0752255 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD010703 Pain Sensation Diminished C0752256 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD010704 Pinprick Sensation Diminished C0752257 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD010705 Position Sense Disorders C0752258 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010706 Proprioceptive Disorders C0752260 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD010707 Thermal Sensation Disorders C0752261 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010708 Somatosensory Disorders C0752262 group C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010709 Congenital Structural Myopathy C0752282 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD010710 Hypersomnia, Post-Traumatic C0752285 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD010711 Hypoxic-Ischemic Encephalopathy C0752304 P91.60 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 182 BXGD010712 Anoxic-Ischemic Encephalopathy C0752305 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD010713 Anoxia-Ischemia, Brain C0752306 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD010714 Anoxia-Ischemia, Cerebral C0752307 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD010715 Hypoxia-Ischemia, Brain C0752308 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 81 BXGD010716 Focal Clonic Seizures C0752323 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 12 BXGD010717 Focal Tonic Seizures C0752324 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 5 BXGD010718 Lupus Vasculitis, Central Nervous System C0752332 disease C01;C17;C20;C10;C14 Infections; Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD010719 Lupus Meningoencephalitis C0752334 disease C01;C17;C20;C10;C14 Infections; Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD010720 Neuropsychiatric Systemic Lupus Erythematosus C0752335 disease C01;C17;C20;C10;C14 Infections; Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 33 BXGD010721 Lewy Body Disease C0752347 G31.83 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T047 Disease or Syndrome 255 BXGD010722 Embryo Death C0752350 phenotype C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function T046 Pathologic Function 7 BXGD010723 Embryo Loss C0752351 phenotype C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function T046 Pathologic Function 11 BXGD010724 Atrophy, Muscular, Spinobulbar C0752353 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010725 Myotonia Fluctuans (disorder) C0752355 G71.19 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 21 BXGD010726 Cerebral arterial thrombosis C0795687 I66 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD010727 Subarachnoid Hemorrhage, Intracranial C0795688 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function T046 Pathologic Function 8 BXGD010728 Congenital omphalocele C0795690 Q79.2 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0025031;HP:0003549 Abnormality of the digestive system; Abnormality of connective tissue DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T019 Congenital Abnormality 85 BXGD010729 HEART PROBLEM C0795691 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD010730 Hyperlactatemia C0795692 disease C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD010731 Skeletal malformation C0795693 disease C16;C13;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Anatomical Abnormality T190 Anatomical Abnormality 6 BXGD010732 Chromosome 1, monosomy 1p C0795796 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 6 BXGD010733 trisomy 2 C0795801 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 8 BXGD010734 Chromosome 2, trisomy 2p C0795803 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 3 BXGD010735 Chromosome 2, trisomy 2q C0795805 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 2 BXGD010736 Chromosome 3, trisomy 3q C0795809 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 5 BXGD010737 Chromosome 6, monosomy 6q C0795816 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 5 BXGD010738 Chromosome 7 ring syndrome C0795818 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 2 BXGD010739 Chromosome 7, trisomy 7q C0795821 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 1 BXGD010740 Chromosome 8, monosomy 8p C0795824 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 4 BXGD010741 Chromosome 8, trisomy 8p C0795825 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 5 BXGD010742 CHROMOSOME 9p DELETION SYNDROME C0795830 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD010743 Chromosome 9, tetrasomy 9p C0795832 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 2 BXGD010744 KLEEFSTRA SYNDROME 1 C0795833 disease C23;C16;C05;C10;F03;F01;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 9 BXGD010745 Chromosome 10, monosomy 10q C0795839 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 16 BXGD010746 Jacobsen Distal 11q Deletion Syndrome C0795841 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 28 BXGD010747 chromosome 11q duplication syndrome C0795842 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 3 BXGD010748 Chromosome 12 ring C0795843 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 1 BXGD010749 Chromosome 12, 12p trisomy C0795845 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 11 BXGD010750 Chromosome 12, trisomy 12q C0795846 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 3 BXGD010751 Ring chromosome 15 syndrome C0795855 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD010752 Trisomy 15 C0795856 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 5 BXGD010753 Chromosome 15q, trisomy C0795858 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 7 BXGD010754 Smith-Magenis syndrome C0795864 Q93.88 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 47 BXGD010755 Chromosome 17, trisomy 17p C0795865 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 1 BXGD010756 Chromosome 21 monosomy C0795875 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 13 BXGD010757 Monosomy 22 C0795878 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 14 BXGD010758 Complex Glycerol Kinase Deficiency C0795887 disease C19 Endocrine System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD010759 Allan-Herndon-Dudley syndrome (AHDS) C0795889 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD010760 Coloboma, cleft lip-palate and mental retardation syndrome C0795902 disease C23;C16;C13;C11;C05;C12;C10;F03;C07;C09;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD010761 Cantu syndrome C0795905 disease C23;C16;C17;C05;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD010762 CONOTRUNCAL ANOMALY FACE SYNDROME C0795907 disease C16;C05;C19;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD010763 COWCHOCK SYNDROME C0795910 disease C23;C16;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD010764 Winter Shortland Temple syndrome C0795915 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010765 Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type C0795917 disease C23;C16;C10;F03;C15;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD010766 fontaine syndrome C0795932 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010767 Filippi syndrome C0795940 disease C23;C16;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 6 BXGD010768 Galloway Mowat syndrome C0795949 disease C23;C16;C13;C05;C12;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 15 BXGD010769 Corpus callosum agenesis neuronopathy C0795950 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD010770 MASA SYNDROME (disorder) C0795953 disease C23;C16;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 16 BXGD010771 Chylomicron retention disease C0795956 E78.3 disease C16;C06;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 10 BXGD010772 STRIATONIGRAL DEGENERATION, INFANTILE (disorder) C0795996 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD010773 JACKSON-WEISS SYNDROME C0795998 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD010774 Multiple non-ossifying fibromatosis C0796000 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD010775 Juberg-Marsidi syndrome C0796003 disease C23;C16;C10;C19;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010776 Kabuki make-up syndrome C0796004 disease C16;C09;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Congenital Abnormality DOID:225 syndrome T019 Congenital Abnormality 37 BXGD010777 Krause-Kivlin syndrome C0796012 disease C23;C16;C05;C07 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 5 BXGD010778 Zimmerman Laband syndrome C0796013 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD010779 Microphthalmia, syndromic 1 C0796016 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality T019 Congenital Abnormality 5 BXGD010780 SPASTIC PARAPLEGIA 23 (disorder) C0796019 disease C23;C16;C17;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD010781 Lujan Fryns syndrome C0796022 disease C16;C17;C05;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 7 BXGD010782 ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION C0796028 disease C23;C16;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD010783 Malouf syndrome C0796031 disease C16;C13;C12;C19;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010784 Malpuech facial clefting syndrome C0796032 disease C16;C05;F03;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 4 BXGD010785 MARDEN-WALKER SYNDROME C0796033 disease C16;C11;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD010786 Marinesco-Sjogren-like syndrome (MSLS) C0796036 disease C23;C11;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD010787 Martsolf syndrome C0796037 disease C23;C11;C10;C19;F03;F01 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 6 BXGD010788 Gurrieri Sammito Bellussi syndrome C0796046 disease C23;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD010789 Mercaptolactate-Cysteine Disulfiduria C0796055 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010790 Oculopalatoskeletal syndrome C0796059 disease C16;C11;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 2 BXGD010791 Oculodigitoesophagoduodenal syndrome C0796068 disease C23;C16;C06;C05;C08;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 6 BXGD010792 MICROPHTHALMIA, SYNDROMIC 7 C0796070 disease C16;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality DOID:7 disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 46 BXGD010793 MOHR-TRANEBJAERG SYNDROME C0796074 disease C23;C16;C11;C10;F03;C09;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 89 BXGD010794 Myhre syndrome C0796081 disease C23;C16;C05;C12;C10;C19;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 3 BXGD010795 Najjar syndrome C0796083 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010796 Nance-Horan syndrome C0796085 disease C16;C11;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 14 BXGD010797 Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor C0796113 disease C23;C16;C04;C13;C12;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 7 BXGD010798 Pitt-Rogers-Danks Syndrome C0796117 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 8 BXGD010799 Primrose syndrome C0796121 disease C23;C16;C18;C10;F03;C09;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 2 BXGD010800 AICARDI-GOUTIERES SYNDROME 1 C0796126 disease C16;C20;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 7 BXGD010801 Ramon Syndrome C0796133 disease C23;C16;C17;C05;C10;F03;C07;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD010802 Renpenning syndrome 1 C0796135 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 19 BXGD010803 Acrocallosal Syndrome C0796147 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 9 BXGD010804 Scott Syndrome C0796149 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 15 BXGD010805 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 C0796154 disease C23;C16;C05;C10;C19;F03;F01;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 44 BXGD010806 Mental retardation Smith Fineman Myers type C0796159 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD010807 MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE C0796160 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 32 BXGD010808 Spondyloperipheral dysplasia short ulna C0796173 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010809 STUVE-WIEDEMANN SYNDROME C0796176 disease C16;C04;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD010810 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence C0796184 disease C23;C16;C13;C05;C12;C10;C07;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010811 Waisman syndrome C0796195 disease C23;C16;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 10 BXGD010812 Atkin syndrome C0796206 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 5 BXGD010813 MENTAL RETARDATION, X-LINKED 2 (disorder) C0796207 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD010814 Mental Retardation, X-Linked 9 C0796215 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 5 BXGD010815 MENTAL RETARDATION, X-LINKED 14 C0796220 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD010816 MENTAL RETARDATION, X-LINKED 15 C0796221 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD010817 MENTAL RETARDATION, X-LINKED 18 C0796224 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD010818 Mental Retardation, X-Linked 19 C0796225 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 7 BXGD010819 MENTAL RETARDATION, X-LINKED 20 C0796226 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD010820 MENTAL RETARDATION, X-LINKED 23 C0796229 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD010821 Mental Retardation, X-Linked 30 C0796237 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD010822 MENTAL RETARDATION, X-LINKED 31 C0796238 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010823 MENTAL RETARDATION, X-LINKED 34 (disorder) C0796241 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD010824 MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) C0796244 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD010825 Mental Retardation, X-Linked 47 C0796249 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD010826 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME C0796250 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 11 BXGD010827 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES C0796254 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD010828 Brown-Vialetto-Van Laere Syndrome 1 C0796274 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 4 BXGD010829 Brunner Syndrome C0796275 disease C23;C16;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD010830 Carnevale syndrome C0796279 disease C16;C11;C05;C12;C10;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 4 BXGD010831 Acromegaloid facial appearance syndrome C0796280 disease C16;C17;C05;C10;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010832 Visual Pathway Glioma C0796418 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 10 BXGD010833 Refractory cytopenia with multilineage dysplasia C0796466 D46.A disease C15 Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 11 BXGD010834 Localized Malignant Neoplasm C0796563 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD010835 Newly Diagnosed Childhood Ependymoma C0796611 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 144 BXGD010836 recurrent childhood ependymoma C0796612 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD010837 Childhood Testicular Germ Cell Tumor C0796663 disease C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 55 BXGD010838 Childhood Ovarian Germ Cell Tumor C0796664 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD010839 Chromosome 18, trisomy 18q C0809935 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 5 BXGD010840 Schizophrenia and related disorders C0809983 group F03 Mental Disorders Disease or Syndrome T047 Disease or Syndrome 20 BXGD010841 Acute cerebrovascular disease C0810006 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010842 alcohol-related liver disease C0810031 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD010843 Pancreatic disorders (not diabetes) C0810032 group C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD010844 Cystitis and urethritis C0810320 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010845 preeclampsia and eclampsia C0810330 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD010846 Cleft Lip with or without Cleft Palate C0810364 disease Congenital Abnormality T019 Congenital Abnormality 99 BXGD010847 Malignant Pleural Mesothelioma C0812413 C45.0 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process HP:0002664;HP:0002086 Neoplasm; Abnormality of the respiratory system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 421 BXGD010848 Kidney problem C0812426 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD010849 Chromosome 11p deletion syndrome C0812435 disease C23;C16;C04;C13;C11;C12;C10;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010850 Oculo-dento-digital syndrome C0812437 disease C16;C11;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality DOID:225 syndrome T019 Congenital Abnormality 12 BXGD010851 Circadian Rhythm Disorders C0813142 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD010852 Stage I Endometrial Carcinoma C0813147 disease Neoplastic Process T191 Neoplastic Process 10 BXGD010853 Metastatic Endometrial Carcinoma C0813148 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 7 BXGD010854 Expressionless face C0813217 phenotype C10 Nervous System Diseases Finding HP:0000152;HP:0003011 Abnormality of head or neck; Abnormality of the musculature T033 Finding 31 BXGD010855 Serum triglycerides increased C0813230 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 5 BXGD010856 respiratory system cancer C0814136 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD010857 upper GI cancer C0814138 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD010858 Viral hepatitis, type G C0814152 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 11 BXGD010859 Alcohol Related Neurodevelopmental Disorder C0814154 disease C16;C13;C25 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 5 BXGD010860 impaired motor coordination C0814161 phenotype Sign or Symptom T184 Sign or Symptom 21 BXGD010861 psychological distress C0815107 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 87 BXGD010862 liver scarring C0815120 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD010863 neurobehavioral problems C0815123 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD010864 Thrombocytosis C0836924 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 93 BXGD010865 Acanthoma C0846967 disease C04 Neoplasms Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD010866 fever with rash C0847014 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD010867 Blood autoimmune disorders C0847092 group C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010868 Viral keratitis C0847226 disease C23;C01;C11 Pathological Conditions, Signs and Symptoms; Infections; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD010869 facet joint degeneration C0847415 M47 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD010870 Nasal allergies C0847614 phenotype Disease or Syndrome HP:0002715;HP:0000152 Abnormality of the immune system; Abnormality of head or neck T047 Disease or Syndrome 11 BXGD010871 internal lesion C0848027 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010872 Low IQ C0848034 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD010873 Nausea in pregnancy C0848080 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD010874 Afterbirth pain C0848200 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD010875 Nocturnal polyuria C0848232 phenotype Sign or Symptom T184 Sign or Symptom 3 BXGD010876 female puberty C0848255 phenotype Sign or Symptom T184 Sign or Symptom 9 BXGD010877 Schizophrenic psychoses C0848257 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD010878 male puberty C0848259 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD010879 Spots on skin C0848332 phenotype C17 Skin and Connective Tissue Diseases Sign or Symptom T184 Sign or Symptom 43 BXGD010880 fluid retention in lung C0848538 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD010881 hypertensive nephropathy C0848548 I12 disease C13;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 55 BXGD010882 Hypospadias C0848558 Q54.9 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system DOID:0080015 physical disorder T019 Congenital Abnormality 366 BXGD010883 Subfertility, Male C0848676 phenotype C12 Male Urogenital Diseases Sign or Symptom T184 Sign or Symptom 70 BXGD010884 circulation problem C0848724 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD010885 Hearing disability C0848765 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD010886 neurological disability C0848771 phenotype Sign or Symptom T184 Sign or Symptom 18 BXGD010887 musculoskeletal infection C0848816 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010888 endocrine carcinoma C0848860 disease Neoplastic Process T191 Neoplastic Process 1 BXGD010889 skin damage C0849640 phenotype Sign or Symptom T184 Sign or Symptom 64 BXGD010890 caruncle C0849748 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 25 BXGD010891 charmed C0849759 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD010892 Bacterial diarrhoea C0849784 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD010893 psychological disturbance C0849888 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD010894 Ventricular failure C0849925 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD010895 Feeling nervous C0849963 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD010896 Gluten sensitivity C0850024 K90.41 disease C06;C18 Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD010897 Neurological infection C0850034 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010898 Dry cough C0850149 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom HP:0002086 Abnormality of the respiratory system T184 Sign or Symptom 4 BXGD010899 Adenomatous polyp of colon C0850572 disease C23 Pathological Conditions, Signs and Symptoms Neoplastic Process T191 Neoplastic Process 7 BXGD010900 premalignant lesion C0850639 phenotype Neoplastic Process T191 Neoplastic Process 20 BXGD010901 Infection caused by Helicobacter pylori C0850666 disease C01 Infections Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T047 Disease or Syndrome 337 BXGD010902 Non-diabetic hyperglycemia C0850671 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010903 hereditary anemia C0850672 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD010904 congenital metabolic disorder C0850673 disease Congenital Abnormality T019 Congenital Abnormality 5 BXGD010905 Frequent falls C0850703 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 94 BXGD010906 Adult Acquired Toxoplasmosis C0850705 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD010907 Abnormality of blood and blood-forming tissues C0850715 disease Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 23 BXGD010908 Smoker's lung C0850741 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD010909 Pelvic pain female C0850758 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 20 BXGD010910 cardiovascular problem C0850760 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD010911 Localized skin lesion C0850826 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 2 BXGD010912 Degeneration of spine C0850918 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD010913 digestive problem C0851121 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD010914 In situ cancer C0851135 phenotype Neoplastic Process T191 Neoplastic Process 8 BXGD010915 Malignant neoplasm of larnyx stage IV C0851139 disease C04;C08;C09 Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD010916 Carcinoma in situ of uterine cervix C0851140 D06 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 117 BXGD010917 Infections of musculoskeletal system C0851162 group C23;C01;C05 Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD010918 Pseudocoarctation C0851256 disease Anatomical Abnormality T190 Anatomical Abnormality 3 BXGD010919 Learning problems C0851265 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD010920 Metabolism and nutrition disorders C0851358 group Disease or Syndrome T047 Disease or Syndrome 2 BXGD010921 Anxiety disorders and symptoms C0851406 group F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD010922 Glaucoma and ocular hypertension C0851409 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD010923 Haematopoietic neoplasms (excl leukaemias and lymphomas) C0851445 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD010924 Prostatic disorders (excl infections and inflammations) C0851535 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD010925 Sleep Disorders C0851578 G47 group C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 360 BXGD010926 Hepatic metabolic disorders C0851734 group Disease or Syndrome T047 Disease or Syndrome 2 BXGD010927 Infection caused by Francisella C0851882 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD010928 Neisseria infection C0851883 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD010929 Pneumocystis Infections C0851886 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 18 BXGD010930 Adenoviral infections C0851887 group Disease or Syndrome T047 Disease or Syndrome 78 BXGD010931 Gastrointestinal vascular malformation C0851971 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD010932 Peritoneal Infection C0851980 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 7 BXGD010933 Bone and joint infections C0851989 group Disease or Syndrome T047 Disease or Syndrome 4 BXGD010934 Pregnancy associated hypertension C0852036 O13 phenotype C13;C14 Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 186 BXGD010935 Blood Coagulation Disorders, Inherited C0852077 group C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD010936 Congenital connective tissue disorder C0852085 group C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD010937 Lower respiratory tract infection viral C0852110 group C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD010938 Placental abnormalities (excl neoplasms) C0852262 disease Disease or Syndrome T047 Disease or Syndrome 12 BXGD010939 Respiratory Distress Syndrome C0852283 disease Disease or Syndrome T047 Disease or Syndrome 58 BXGD010940 Gender disorders C0852312 group Disease or Syndrome T047 Disease or Syndrome 1 BXGD010941 Immune Hemolytic Anemia C0852336 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD010942 Visual impairment and blindness (excl colour blindness) C0852384 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD010943 Abnormal muscle tone C0852413 phenotype C10 Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 14 BXGD010944 Speech and language abnormalities C0852418 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD010945 Extranodal marginal zone B-cell lymphomas (low grade B-cell) C0852451 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD010946 Benign chondrogenic neoplasm C0852519 D21 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD010947 21-hydroxylase deficiency C0852654 E25.0 disease Disease or Syndrome T047 Disease or Syndrome 55 BXGD010948 Vulval cancer metastatic C0852667 disease Neoplastic Process T191 Neoplastic Process 4 BXGD010949 Congenital rubella infection C0852689 disease Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 1 BXGD010950 17,20-desmolase deficiency C0852698 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010951 Sickle Cell Dactylitis C0852711 disease C16;C17;C25;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Chemically-Induced Disorders; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD010952 Completed Suicide C0852733 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 33 BXGD010953 Perinatal brain damage C0852862 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD010954 Cervical cord compression C0852866 phenotype C10;C26 Nervous System Diseases; Wounds and Injuries Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD010955 Pulmonary Alveolar Hemorrhage C0852879 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD010956 Colitis aggravated C0852920 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD010957 Arteriopathic disease C0852949 group C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 101 BXGD010958 Atherosclerosis obliterans C0852950 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD010959 Congenital cerebellar ataxia C0852975 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD010960 Progressive cerebellar degeneration C0852996 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD010961 Decreased glomerular filtration rate C0853068 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 11 BXGD010962 Uterine ischaemia C0853070 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010963 Decreased LDL cholesterol concentration C0853085 phenotype C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 9 BXGD010964 Nail abnormality C0853087 phenotype C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 67 BXGD010965 Renal tubular atrophy C0853104 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD010966 Penis carcinoma C0853105 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 49 BXGD010967 Chronic infection with HIV C0853112 disease Disease or Syndrome T047 Disease or Syndrome 48 BXGD010968 Bipolar I disorder C0853193 F31 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 83 BXGD010969 Mobius II syndrome C0853240 disease C16;C10;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality HP:0000707;HP:0000152;HP:0003011 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculature T019 Congenital Abnormality 2 BXGD010970 Exacerbation of anxiety C0853241 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD010971 Pseudo-Bartter syndrome C0853277 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD010972 Immunodeficiency congenital C0853602 disease Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 8 BXGD010973 Localized swelling C0853619 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD010974 Abnormal mean corpuscular volume C0853655 R71.8 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 2 BXGD010975 Oestrogen deficiency C0853662 disease Disease or Syndrome T047 Disease or Syndrome 85 BXGD010976 Kidney infection acute C0853684 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010977 Secondary hyperlipidemia C0853689 phenotype C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010978 Neutrophil count decreased C0853697 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 4 BXGD010979 Solvent sensitivity C0853806 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD010980 Staphylococcal abscess C0853856 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD010981 Fistula of genitourinary tract C0853877 disease C23;C16;C13;C12 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 11 BXGD010982 Invasive carcinoma of breast C0853879 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 473 BXGD010983 Hypocomplementaemia C0853888 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD010984 Catabolic state C0853892 phenotype Disease or Syndrome T047 Disease or Syndrome 8 BXGD010985 Diabetic Cardiomyopathies C0853897 disease C19;C14 Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 220 BXGD010986 Oral mucosal blisters C0853945 phenotype Sign or Symptom HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T184 Sign or Symptom 12 BXGD010987 Pain worsened C0853946 phenotype Sign or Symptom T184 Sign or Symptom 3 BXGD010988 Corneal calcification C0853954 phenotype Anatomical Abnormality T190 Anatomical Abnormality 10 BXGD010989 Inflammatory carcinoma of breast stage IV C0853972 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD010990 Abnormal visual field test C0854021 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 4 BXGD010991 Allergy to sting C0854051 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD010992 Increased total iron binding capacity C0854060 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 2 BXGD010993 Tumor pain C0854069 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD010994 Distal ileal obstruction syndrome C0854076 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD010995 Diabetic retinal oedema C0854077 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD010996 Diabetic end stage renal disease C0854078 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD010997 Streptococcal necrotizing fasciitis C0854084 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD010998 HIV-2 infection C0854094 disease C01;C20 Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 30 BXGD010999 Subcutaneous hemorrhage C0854107 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0001871;HP:0001626 Abnormality of the integument; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T047 Disease or Syndrome 16 BXGD011000 Insulin-resistant diabetes mellitus C0854110 E11 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome HP:0001939;HP:0000818 Abnormality of metabolism/homeostasis; Abnormality of the endocrine system DOID:0014667 disease of metabolism T047 Disease or Syndrome 21 BXGD011001 Ruptured Appendicitis C0854119 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 9 BXGD011002 Pseudomonas aeruginosa infection C0854135 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 49 BXGD011003 Feeding Disorders C0854145 disease F03 Mental Disorders Disease or Syndrome T047 Disease or Syndrome 4 BXGD011004 Metastases to adrenals C0854178 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 7 BXGD011005 Cognitive deterioration C0854193 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 39 BXGD011006 Hepatobiliary neoplasm C0854196 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD011007 Metastases to abdominal cavity C0854198 disease Neoplastic Process T191 Neoplastic Process 1 BXGD011008 Bacterial keratitis C0854211 disease C23;C01;C11 Pathological Conditions, Signs and Symptoms; Infections; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD011009 Gastrointestinal angiodysplasia C0854242 disease Disease or Syndrome HP:0025031;HP:0001626 Abnormality of the digestive system; Abnormality of the cardiovascular system T047 Disease or Syndrome 4 BXGD011010 Pneumonia due to Gram negative bacteria C0854248 J15.6 group C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD011011 Pseudoprecocious puberty C0854258 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD011012 Congenital urinary tract obstruction C0854260 disease Congenital Abnormality T019 Congenital Abnormality 2 BXGD011013 Basal ganglion degeneration C0854279 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD011014 Head deformity C0854297 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011015 Bacillus infection C0854327 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011016 Insulin autoimmune syndrome C0854359 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD011017 Lip discoloration C0854373 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD011018 Chronic proliferative glomerulonephritis C0854406 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011019 Fatty acid deficiency C0854440 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011020 Gastric mucosal lesion C0854441 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD011021 Vascular fragility C0854443 phenotype Disease or Syndrome T047 Disease or Syndrome 6 BXGD011022 Muscular sarcoidosis C0854498 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011023 Infection by human herpesvirus 6 C0854530 B10.81 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 19 BXGD011024 Myopericarditis C0854532 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011025 Neonatal infection C0854706 disease Disease or Syndrome T047 Disease or Syndrome 17 BXGD011026 Retinal Dystrophies C0854723 group C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 219 BXGD011027 Advanced sleep phase C0854739 phenotype Disease or Syndrome T047 Disease or Syndrome 5 BXGD011028 Delayed sleep phase C0854740 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD011029 Colorectal cancer recurrent C0854750 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 16 BXGD011030 stage IV pancreatic cancer C0854775 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD011031 Pancreatic carcinoma non-resectable C0854776 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 15 BXGD011032 Pancreatic carcinoma recurrent C0854777 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD011033 Pancreatic carcinoma resectable C0854778 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 35 BXGD011034 Bile duct cancer resectable C0854792 disease Neoplastic Process T191 Neoplastic Process 3 BXGD011035 Hepatoblastoma non-resectable C0854796 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD011036 Recurrent Chronic Lymphoid Leukemia C0854802 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 12 BXGD011037 Adult T-cell lymphoma/leukaemia refractory C0854818 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD011038 Anaplastic large cell lymphoma T- and null-cell types refractory C0854821 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD011039 Angioimmunoblastic T-cell lymphoma refractory C0854834 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD011040 Mycosis fungoides refractory C0854850 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD011041 Recurrent Non-Hodgkin Lymphoma C0854866 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD011042 Non-Hodgkin's lymphoma refractory C0854867 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 7 BXGD011043 Non-Hodgkin's lymphoma transformed recurrent C0854868 disease Neoplastic Process T191 Neoplastic Process 5 BXGD011044 Pleural mesothelioma malignant advanced C0854889 disease Neoplastic Process T191 Neoplastic Process 8 BXGD011045 Angiosarcoma non-metastatic C0854893 disease C04;C14 Neoplasms; Cardiovascular Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD011046 Benign Schwannoma C0854906 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD011047 Pineal germinoma C0854912 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 16 BXGD011048 Retinoblastoma bilateral C0854914 disease C04;C11 Neoplasms; Eye Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD011049 Retinoblastoma unilateral C0854915 disease C04;C11 Neoplasms; Eye Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD011050 Rhabdoid Tumor of the Kidney C0854917 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 62 BXGD011051 Mucinous endometrial carcinoma C0854923 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 1 BXGD011052 Papillary serous endometrial carcinoma C0854924 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 63 BXGD011053 Metastatic Penile Cancer C0854963 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD011054 Lung adenocarcinoma recurrent C0854983 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD011055 Adenocarcinoma of lung, stage I C0854985 disease Neoplastic Process T191 Neoplastic Process 37 BXGD011056 Adenocarcinoma of lung, stage III C0854987 disease Neoplastic Process T191 Neoplastic Process 2 BXGD011057 Adenocarcinoma of lung, stage IV C0854988 disease Neoplastic Process T191 Neoplastic Process 19 BXGD011058 Recurrent Lung Carcinoma Cell Type Unspecified C0855002 disease Neoplastic Process T191 Neoplastic Process 6 BXGD011059 Stage IV Lung Cancer AJCC v7 C0855005 disease Neoplastic Process T191 Neoplastic Process 7 BXGD011060 Peripheral neuroepithelioma of bone C0855009 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD011061 Alveolar soft part sarcoma metastatic C0855036 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD011062 Extraskeletal Osteosarcoma C0855052 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD011063 Metastatic leiomyosarcoma C0855056 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD011064 Primary leiomyosarcoma C0855057 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD011065 Recurrent Rhabdomyosarcoma C0855069 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD011066 Synovial sarcoma metastatic C0855070 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD011067 Synovial sarcoma non-metastatic C0855071 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD011068 Undifferentiated (Embryonal) Sarcoma C0855073 disease Neoplastic Process T191 Neoplastic Process 35 BXGD011069 Refractory Hodgkin Lymphoma C0855082 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 13 BXGD011070 B-cell lymphoma refractory C0855090 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 21 BXGD011071 Small Lymphocytic Lymphoma C0855095 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 120 BXGD011072 B-cell small lymphocytic lymphoma recurrent C0855096 disease Neoplastic Process T191 Neoplastic Process 1 BXGD011073 Diffuse large B-cell lymphoma recurrent C0855111 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 7 BXGD011074 Diffuse large B-cell lymphoma refractory C0855112 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 29 BXGD011075 Mantle cell lymphoma refractory C0855138 disease Neoplastic Process T191 Neoplastic Process 6 BXGD011076 Monocytoid B-cell lymphoma C0855139 C83.0 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 24 BXGD011077 B Lymphoblastic Lymphoma C0855146 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 25 BXGD011078 Placental Choriocarcinoma C0855173 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD011079 Malignant Testicular Germ Cell Tumor C0855197 disease C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 128 BXGD011080 Eating disorder symptom C0855228 phenotype C18;F03 Nutritional and Metabolic Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 20 BXGD011081 Food hoarding C0855230 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD011082 Markedly reduced food intake C0855232 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011083 Sleep attack C0855247 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD011084 Electrocardiogram change C0855329 phenotype Finding T033 Finding 18 BXGD011085 Renin decreased C0855389 phenotype Finding T033 Finding 1 BXGD011086 Abnormal platelet function C0855740 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 21 BXGD011087 Abnormal platelet morphology C0855742 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 10 BXGD011088 Decreased mean corpuscular volume C0855790 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 6 BXGD011089 Abnormal basophil morphology C0855997 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 3 BXGD011090 Abnormal eosinophil morphology C0855999 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 3 BXGD011091 Leukemia secondary C0856053 disease Neoplastic Process T191 Neoplastic Process 24 BXGD011092 Mental status changes C0856054 R41.82 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD011093 Multiple sclerosis relapse C0856120 disease Disease or Syndrome T047 Disease or Syndrome 19 BXGD011094 Myotonia aggravated C0856123 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011095 Fat redistribution C0856151 phenotype Disease or Syndrome T047 Disease or Syndrome 12 BXGD011096 Endothelial dysfunction C0856169 phenotype Disease or Syndrome T047 Disease or Syndrome 716 BXGD011097 Functional diarrhoea (due to spastic colon) C0856217 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011098 Lumbar spine degeneration C0856247 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011099 Neurotic personality C0856254 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD011100 Alcoholic brain damage C0856322 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD011101 Circadian dysrhythmia C0856486 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011102 Hepatic cancer metastatic C0856554 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD011103 Opium addiction C0856561 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD011104 bilateral testicular swelling by history (symptom) C0856626 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD011105 Transient hemiparesis C0856636 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011106 Infection caused by Trichinella C0856687 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD011107 Asthma aspirin-sensitive C0856716 disease C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD011108 Cholesterol gallstones C0856727 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 51 BXGD011109 Single vessel disease C0856737 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD011110 Triple vessel disease C0856738 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD011111 Post MI C0856742 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 203 BXGD011112 Aneurysm of ascending aorta C0856747 phenotype C08;C14 Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 34 BXGD011113 Aneurysm of aortic arch C0856748 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 20 BXGD011114 Bilateral renal artery stenosis C0856760 disease C13;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD011115 Budd-Chiari Syndrome C0856761 I82.0 disease C06;C14 Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 24 BXGD011116 Primary erythrocytosis C0856816 disease Neoplastic Process T191 Neoplastic Process 1 BXGD011117 Undifferentiated type acute leukemia C0856823 disease Neoplastic Process T191 Neoplastic Process 1 BXGD011118 Acute GVH disease C0856825 D89.810 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 294 BXGD011119 Calcium pyrophosphate arthropathy C0856830 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD011120 Seronegative juvenile chronic arthritis C0856835 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011121 Posterior cerebral artery occlusion C0856862 phenotype Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD011122 Broad-based gait C0856863 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 75 BXGD011123 Subclinical diabetes C0856874 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011124 Retinol Deficiency C0856901 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD011125 Allergy to fish C0856904 phenotype Disease or Syndrome T047 Disease or Syndrome 3 BXGD011126 Stress induced hyperglycaemia C0856953 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD011127 Autistic behavior C0856975 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 261 BXGD011128 Childhood aggression C0856977 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD011129 Scirrhous gastric carcinoma C0857002 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 11 BXGD011130 Antral carcinoma C0857004 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD011131 Hyperbilirubinemia, Neonatal C0857007 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:7 disease of anatomical entity T047 Disease or Syndrome 33 BXGD011132 Acute anaphylaxis C0857035 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011133 Chronic candidiasis C0857069 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD011134 Chronic open angle glaucoma C0857070 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD011135 Endometriosis related pain C0857094 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD011136 Bilateral glaucoma C0857112 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD011137 Gross obesity C0857116 disease Disease or Syndrome T047 Disease or Syndrome 12 BXGD011138 Hyponatraemic C0857122 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD011139 Persistent dry cough C0857172 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD011140 Postinfarction C0857175 disease Disease or Syndrome T047 Disease or Syndrome 49 BXGD011141 Arthritic pain C0857177 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 13 BXGD011142 Unwell C0857256 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD011143 Thrombocytopenic purpura C0857305 disease C23;C20;C15 Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD011144 Leishmania donovani disease C0857306 disease Disease or Syndrome T047 Disease or Syndrome 16 BXGD011145 Leishmania tropica disease C0857307 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011146 Late onset epilepsy C0857345 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD011147 Groin nodes C0857362 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011148 Abnormality of the pinna C0857379 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 85 BXGD011149 Pituitary hormone deficiency C0857439 phenotype Finding T033 Finding 2 BXGD011150 Granulocyte count C0857490 phenotype Laboratory Procedure T059 Laboratory Procedure 100 BXGD011151 Upper gastrointestinal symptoms C0857493 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD011152 Acute schizophrenia C0857501 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 9 BXGD011153 Floppy C0857516 phenotype Sign or Symptom T184 Sign or Symptom 7 BXGD011154 Abnormality of thyroid physiology C0857576 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 1 BXGD011155 Vaginal yeast C0857737 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011156 Sickle cell-beta^+^-thalassemia C0857812 D57.4 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011157 Hb-SD C0857813 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD011158 Infection in solid organ transplant recipients C0857825 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011159 JC virus infection C0857836 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 18 BXGD011160 Vaccinia virus infection C0857841 disease Disease or Syndrome T047 Disease or Syndrome 25 BXGD011161 Legionella pneumophila pneumonia C0857846 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD011162 Staphylococcus aureus abscess C0857856 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011163 Staphylococcus aureus endocarditis C0857860 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011164 Staphylococcus Aureus Pneumonia C0857862 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD011165 Abnormal circulating aldosterone C0857898 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 2 BXGD011166 Decreased circulating aldosterone level C0857899 phenotype C20;C19 Immune System Diseases; Endocrine System Diseases Finding HP:0000818 Abnormality of the endocrine system T033 Finding 16 BXGD011167 Elevated circulating parathyroid hormone level C0857973 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 18 BXGD011168 Influenza A virus infection C0858004 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 117 BXGD011169 Influenza B virus infection C0858005 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD011170 Mumps virus infection C0858009 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD011171 vascular aneurysm C0858213 disease Anatomical Abnormality T190 Anatomical Abnormality 5 BXGD011172 Breast adenocarcinoma C0858252 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 219 BXGD011173 angina symptom C0858277 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Sign or Symptom T184 Sign or Symptom 6 BXGD011174 Mycobacterium tuberculosis meningitis C0858312 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011175 Plasmodium vivax infection C0858321 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 21 BXGD011176 Addicted to heroin C0858353 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD011177 Addicted to cocaine C0858355 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 7 BXGD011178 Neuroparalysis C0858547 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011179 Rigidity of limbs C0858572 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD011180 Taste salty C0858598 phenotype Sign or Symptom T184 Sign or Symptom 4 BXGD011181 Taste sour C0858599 phenotype Sign or Symptom T184 Sign or Symptom 4 BXGD011182 Taste sweet C0858600 phenotype Sign or Symptom T184 Sign or Symptom 41 BXGD011183 Posterior subcapsular cataract C0858617 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 67 BXGD011184 Dyschromatopsia C0858618 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 19 BXGD011185 Vitiligo vulgaris C0858681 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD011186 Facial telangiectasia C0858684 phenotype C14 Cardiovascular Diseases Finding HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system T033 Finding 6 BXGD011187 Skin keratosis C0858699 phenotype C17 Skin and Connective Tissue Diseases Acquired Abnormality T020 Acquired Abnormality 1 BXGD011188 Joint swelling inflammatory C0858727 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011189 Insulin hypoglycemia C0858734 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD011190 Neuro-Behcet disease C0858762 disease C16;C11;C17;C07;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD011191 Hypomnesia C0858774 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD011192 Impulsive aggression C0858853 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 14 BXGD011193 Unrest C0858854 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD011194 Spot pigmented C0858864 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD011195 Rosacea-like dermatitis C0858866 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011196 Reticulocytopenia C0858867 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 17 BXGD011197 Infection pyogenic C0858906 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD011198 General discomfort C0858924 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD011199 Deafness labyrinthine C0858925 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011200 Pain after application C0858992 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD011201 Hyperthymic state C0859021 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 8 BXGD011202 Renal function disorder C0859242 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011203 Inherited hearing loss C0859886 disease Disease or Syndrome T047 Disease or Syndrome 13 BXGD011204 Non-seminoma testicular cancer C0859918 disease Neoplastic Process T191 Neoplastic Process 5 BXGD011205 Neonatal intestinal obstruction C0859974 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 2 BXGD011206 Idiopathic achalasia of esophagus C0859976 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD011207 Hypotonic dehydration C0860006 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011208 Fulminant Wilson's disease C0860016 disease C16;C06;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD011209 Acute fulminant hepatitis C0860023 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011210 Leishmania mexicana disease C0860026 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011211 Leishmania infantum disease C0860027 disease Disease or Syndrome T047 Disease or Syndrome 11 BXGD011212 Vaginal Yeast Infections C0860029 disease C13;C01 Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD011213 BCG infection C0860040 disease Disease or Syndrome T047 Disease or Syndrome 37 BXGD011214 Leydig Cell Hypoplasia C0860158 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD011215 Partial androgen resistance C0860159 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011216 Distal colitis C0860168 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD011217 Colonic dysfunction C0860183 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD011218 Advanced chronic liver disease C0860197 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD011219 Cholestatic liver disease C0860204 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 58 BXGD011220 Drug-Induced Liver Disease C0860207 phenotype C06;C25 Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 537 BXGD011221 Fulminant hepatitis B C0860208 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011222 ABO incompatibility C0860218 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD011223 Disseminated leishmaniasis C0860236 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD011224 Mottled pigmentation C0860439 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 5 BXGD011225 Split ends C0860451 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD011226 Loss of skin elasticity C0860452 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011227 Adolescent antisocial behaviour C0860472 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD011228 Lactose intolerant C0860475 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011229 Freezing of gait C0860515 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD011230 Refeeding Syndrome C0860549 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011231 Retinoic acid syndrome C0860564 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 29 BXGD011232 Medullary carcinoma of breast C0860580 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 15 BXGD011233 Mucinous breast cancer C0860581 disease Neoplastic Process T191 Neoplastic Process 2 BXGD011234 Malignant melanoma, metastatic C0860594 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 29 BXGD011235 Anxious personality C0860602 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD011236 Anxiety symptoms C0860603 phenotype Sign or Symptom T184 Sign or Symptom 110 BXGD011237 Inappropriate crying C0860609 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 8 BXGD011238 Loss of memory ability C0860628 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD011239 Psychogenic coma C0860634 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD011240 Aloof C0860659 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 81 BXGD011241 Bilateral optic neuritis C0861152 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011242 Allergic rhinoconjunctivitis C0861154 disease C11;C20 Eye Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD011243 Rhinoconjunctivitis C0861155 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD011244 Visual phenomena C0861156 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD011245 Lymphoplasmacytoid immunocytoma C0861199 disease Neoplastic Process T191 Neoplastic Process 1 BXGD011246 Lobular Neoplasia C0861352 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 49 BXGD011247 Noninvasive ductal carcinoma C0861353 disease Neoplastic Process T191 Neoplastic Process 8 BXGD011248 Stage IV Colon Carcinoma C0861461 disease Neoplastic Process T191 Neoplastic Process 1 BXGD011249 Adenocarcinoma of the cardia C0861471 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD011250 Pancreatic adenocarcinoma metastatic C0861727 disease Neoplastic Process T191 Neoplastic Process 32 BXGD011251 Pancreatic adenocarcinoma resectable C0861748 disease Neoplastic Process T191 Neoplastic Process 8 BXGD011252 Stage IV Rectal Carcinoma C0861772 disease Neoplastic Process T191 Neoplastic Process 4 BXGD011253 Recurrent Hepatocellular Carcinoma C0861876 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 12 BXGD011254 B-immunoblastic lymphoma (Kiel Classification) C0861927 disease Neoplastic Process T191 Neoplastic Process 2 BXGD011255 Centrocytic (mantle cell) lymphoma (Kiel classification) C0861999 disease Neoplastic Process T191 Neoplastic Process 1 BXGD011256 Precursor B-lymphoblastic lymphoma/leukemia C0862030 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 25 BXGD011257 Precursor B-lymphoblastic lymphoma stage II C0862039 disease Neoplastic Process T191 Neoplastic Process 1 BXGD011258 Mycosis fungoides/Sezary syndrome NOS C0862196 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 36 BXGD011259 Epithelioid mesothelioma, malignant C0862312 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 32 BXGD011260 Stage IV Renal Cell Cancer C0862448 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD011261 Borderline ovarian tumour C0862506 disease Neoplastic Process T191 Neoplastic Process 54 BXGD011262 Adenocarcinoma of the prostate metastatic C0862636 disease Neoplastic Process T191 Neoplastic Process 11 BXGD011263 Adenocarcinoma of lung stage IIIB C0862793 disease Neoplastic Process T191 Neoplastic Process 1 BXGD011264 Recurrent lung cancer C0862802 disease Neoplastic Process T191 Neoplastic Process 5 BXGD011265 Stage III Lung Cancer C0862847 disease Neoplastic Process T191 Neoplastic Process 1 BXGD011266 Dedifferentiated chondrosarcoma C0862878 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 15 BXGD011267 Superficial basal cell carcinoma C0862889 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD011268 Cholangiocarcinoma non-resectable C0862953 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD011269 Localized Ewing Sarcoma C0863029 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD011270 Cold symptoms C0863093 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011271 Recurrent respiratory tract infections C0863094 disease Disease or Syndrome T047 Disease or Syndrome 14 BXGD011272 Afebrile seizure C0863106 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD011273 AGEP C0863129 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD011274 Larynx carcinoma recurrent C0863183 disease Neoplastic Process T191 Neoplastic Process 5 BXGD011275 Stage III Carcinoma of Stomach C0863188 disease Neoplastic Process T191 Neoplastic Process 1 BXGD011276 Hepatoma resectable C0863194 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD011277 dmac C0864632 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD011278 Sporothrix schenckii Infection C0864813 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011279 parathyroiditis C0865171 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011280 Female Virilization C0865181 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 1 BXGD011281 Autosomal recessive agammaglobulinemia C0865214 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD011282 Acute intravascular hemolysis C0865236 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 1 BXGD011283 Thrombopathy C0865262 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011284 High-oxygen-affinity hemoglobin C0865274 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011285 Polycythemia due to fall in plasma volume C0865275 D75.1 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD011286 Polycythemia due to high altitude C0865276 D75.1 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD011287 Schizophreniform psychosis NOS C0865304 F20.81 disease Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD011288 Adult attention deficit hyperactivity disorder C0865424 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 20 BXGD011289 (non-specific) purulent meningitis C0865440 G00.9 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD011290 Parkinsonism or Parkinson's disease NOS C0865474 G20 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD011291 Idiopathic Parkinsonism or Parkinson's disease C0865475 G20 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD011292 Primary Parkinsonism or Parkinson's disease C0865476 G20 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD011293 Mitral disease C0865573 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011294 Chronic myocarditis C0865681 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD011295 asthma with copd C0865800 J44 disease Disease or Syndrome T047 Disease or Syndrome 29 BXGD011296 Segmental Ileitis C0865998 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011297 Postoperative peritoneal adhesions C0866036 disease Acquired Abnormality T020 Acquired Abnormality 3 BXGD011298 Renal thrombosis C0866188 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011299 lupus erythematodes C0866588 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD011300 Chronic graft-versus-host disease C0867389 D89.811 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 241 BXGD011301 Hereditary disturbances in tooth structure, not elsewhere classified in ICD10CM C0868847 K00.5 disease Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 4 BXGD011302 Pancolitis C0868908 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 29 BXGD011303 Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM C0869083 Q87.89 disease Disease or Syndrome DOID:630;DOID:7;DOID:225;DOID:150;DOID:0080015 genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder T047 Disease or Syndrome 14 BXGD011304 Neonatal hyperthyroidism C0869147 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011305 Adverse effects, not elsewhere classified C0869220 T78 disease Injury or Poisoning T037 Injury or Poisoning 55 BXGD011306 Dyscalculia C0869474 R48.8 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 20 BXGD011307 Carditis C0869523 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD011308 Beta thalassemia minor C0869532 D56.3 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD011309 Hyperkeratosis C0870082 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 176 BXGD011310 snake phobia C0871007 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD011311 positive and negative symptoms C0871099 phenotype Sign or Symptom T184 Sign or Symptom 18 BXGD011312 Psychotic symptom C0871189 phenotype Sign or Symptom T184 Sign or Symptom 86 BXGD011313 Reading Disabilities C0871215 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 28 BXGD011314 social stress C0871388 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 45 BXGD011315 Subcortical lesions C0871456 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011316 Systolic Pressure C0871470 phenotype Clinical Attribute T201 Clinical Attribute 843 BXGD011317 winter depression C0871610 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 9 BXGD011318 facial features C0871976 phenotype Organism Attribute T032 Organism Attribute 1 BXGD011319 Sarcopenia C0872084 M62.84 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 164 BXGD011320 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME C0872218 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD011321 Posturing C0872410 phenotype Disease or Syndrome T047 Disease or Syndrome 2 BXGD011322 Infectious Lung Disorder C0876973 group C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome HP:0002715;HP:0002086 Abnormality of the immune system; Abnormality of the respiratory system T047 Disease or Syndrome 185 BXGD011323 Histiocytosis haematophagic C0876991 disease Disease or Syndrome HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 36 BXGD011324 Cardiotoxicity C0876994 disease C23;C25;C14;C26 Pathological Conditions, Signs and Symptoms; Chemically-Induced Disorders; Cardiovascular Diseases; Wounds and Injuries Injury or Poisoning T037 Injury or Poisoning 13 BXGD011325 Enzyme inhibition disorder C0877008 phenotype Disease or Syndrome T047 Disease or Syndrome 171 BXGD011326 Muscle fibrosis C0877009 phenotype Sign or Symptom T184 Sign or Symptom 34 BXGD011327 Pelvic Organ Prolapse C0877015 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 119 BXGD011328 Heparin-induced thrombocytopenia type II C0877016 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011329 Generalized tonic-clonic seizures with focal onset C0877017 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 23 BXGD011330 Schimke immunoosseous dysplasia C0877024 disease C16;C13;C05;C12;C08;C20;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 21 BXGD011331 Tooth Infection C0877046 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011332 Oral fungal infection C0877048 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011333 Acute Generalized Exanthematous Pustulosis C0877055 disease C17;C20;C25 Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 7 BXGD011334 Hypoglycemic seizures C0877056 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939;HP:0000707 Abnormality of metabolism/homeostasis; Abnormality of the nervous system T047 Disease or Syndrome 19 BXGD011335 Retinal toxicity C0877104 disease Anatomical Abnormality T190 Anatomical Abnormality 12 BXGD011336 AIDS related complication C0877121 group C01;C20 Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD011337 Osteopenia periarticular C0877138 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011338 Short phalanx of finger C0877165 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 41 BXGD011339 Hematoma, Epidural, Spinal C0877172 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 1 BXGD011340 Food aversion C0877173 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD011341 Respiratory tract infection viral C0877203 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD011342 Peripartum cardiomyopathy C0877208 O90.3 phenotype C14 Cardiovascular Diseases Pathologic Function DOID:7 disease of anatomical entity T046 Pathologic Function 2 BXGD011343 Decreased erythroid precursor production C0877221 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD011344 Increased serum serotonin C0877243 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 8 BXGD011345 Peritonsillitis C0877267 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011346 Vertebral lesion C0877400 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011347 Asthma chronic C0877430 disease Disease or Syndrome T047 Disease or Syndrome 36 BXGD011348 Non-ischemic cardiomyopathy C0877438 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD011349 Sigmoid polyp C0877441 disease Neoplastic Process T191 Neoplastic Process 3 BXGD011350 Candidemia C0877445 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 40 BXGD011351 Heyde's syndrome C0877456 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011352 Chronic synovitis C0877521 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD011353 Carcinomatous ascites C0877550 disease Neoplastic Process T191 Neoplastic Process 2 BXGD011354 Treatment related secondary malignancy C0877578 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 13 BXGD011355 Anteroseptal infarction C0877603 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011356 Cytomegalovirus viremia C0877635 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 17 BXGD011357 Gastrointestinal cramps C0877664 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD011358 Hemicrania C0877781 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 5 BXGD011359 Sleep Disorders, Circadian Rhythm C0877792 G47.2 group C10;F03;C24 Nervous System Diseases; Mental Disorders; Occupational Diseases Pathologic Function T046 Pathologic Function 5 BXGD011360 Distorted hearing C0877848 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding T033 Finding 3 BXGD011361 Askin's tumor C0877849 disease C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD011362 Cerebral Arteriosclerosis C0877854 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD011363 Cerebral Embolism and Thrombosis C0877855 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011364 Arteriolosclerosis C0878486 I70 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD011365 Intraepithelial Neoplasia C0878500 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 186 BXGD011366 beta Thalassemia, heterozygous C0878520 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD011367 Beta thalassemia trait C0878521 D56.3 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 34 BXGD011368 Cardiomyopathies C0878544 I42.9 group C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 925 BXGD011369 Coronary artery ectasia C0878552 disease Disease or Syndrome T047 Disease or Syndrome 24 BXGD011370 Diffuse panbronchiolitis C0878555 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 26 BXGD011371 Electrocardiogram J wave C0878565 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD011372 Peripheral demyelination C0878575 phenotype C10 Nervous System Diseases Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 27 BXGD011373 Posterior Leukoencephalopathy Syndrome C0878576 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011374 Sister Mary Joseph's Nodule C0878585 phenotype C04 Neoplasms Sign or Symptom T184 Sign or Symptom 1 BXGD011375 lung cavity C0878624 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011376 Mucosal neuromas C0878627 disease C04 Neoplasms Disease or Syndrome T047 Disease or Syndrome 3 BXGD011377 pathergy C0878631 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD011378 Abnormality of the tongue C0878638 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 25 BXGD011379 Gastric hyperplastic polyp C0878649 disease C06;C04 Digestive System Diseases; Neoplasms Disease or Syndrome T047 Disease or Syndrome 7 BXGD011380 Disproportionate short stature C0878659 phenotype C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding HP:0001507 Growth abnormality T033 Finding 86 BXGD011381 Proportionate short stature C0878660 phenotype C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding HP:0001507 Growth abnormality T033 Finding 19 BXGD011382 Analbuminemia C0878666 phenotype Finding T033 Finding 1 BXGD011383 Increased urinary urate C0878672 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 2 BXGD011384 Erdheim-Chester Disease C0878675 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 29 BXGD011385 6-pyruvoyl-tetrahydropterin synthase deficiency C0878676 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD011386 Glycogen Storage Disease Type IIb C0878677 disease C16;C18;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 11 BXGD011387 Dent's disease C0878681 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 23 BXGD011388 Ceruloplasmin deficiency C0878682 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 8 BXGD011389 SHORT syndrome C0878684 disease C23;C18;C13;C12 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 10 BXGD011390 Conjunctivochalasis C0878693 H11.82 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD011391 Overactive Bladder C0878773 N32.81 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 65 BXGD011392 Growth failure C0878787 phenotype Disease or Syndrome HP:0001507 Growth abnormality T047 Disease or Syndrome 84 BXGD011393 Hereditary Papillary Renal Carcinoma C0879257 disease C16;C04;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD011394 Stromal Neoplasm C0879615 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 86 BXGD011395 Cardiac troponin I measurement C0883409 phenotype Laboratory Procedure T059 Laboratory Procedure 11 BXGD011396 Posterior Choroidal Artery Infarction C0887799 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD011397 Psychogenic Inversion of Circadian Rhythm C0887800 disease C10 Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD011398 Carcinoma, Pancreatic Ductal C0887833 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 82 BXGD011399 Polycystic Kidney, Type 1 Autosomal Dominant Disease C0887850 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality DOID:630 genetic disease T019 Congenital Abnormality 10 BXGD011400 Monckeberg Medial Calcific Sclerosis C0887866 I70.2 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD011401 Experimental Lung Inflammation C0887898 disease C01;C08 Infections; Respiratory Tract Diseases Experimental Model of Disease T050 Experimental Model of Disease 54 BXGD011402 Upper Aerodigestive Tract Neoplasms C0887900 group C04 Neoplasms Neoplastic Process T191 Neoplastic Process 24 BXGD011403 Chlamydophila Infections C0887976 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD011404 Becker Muscular Dystrophy C0917713 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 86 BXGD011405 Hajdu-Cheney Syndrome C0917715 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 8 BXGD011406 Female sterility C0917730 N97 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Finding T033 Finding 28 BXGD011407 Male sterility C0917731 phenotype C12 Male Urogenital Diseases Finding T033 Finding 48 BXGD011408 Optic Atrophy, Hereditary, Leber C0917796 H47.22 disease C16;C18;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 100 BXGD011409 Cerebral Ischemia C0917798 I67.82 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Pathologic Function HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T046 Pathologic Function 120 BXGD011410 Hypersomnia C0917799 G47.10 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 70 BXGD011411 Epilepsy, Myoclonic, Infantile C0917800 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD011412 Sleeplessness C0917801 G47.0 phenotype C10;F03 Nervous System Diseases; Mental Disorders Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 174 BXGD011413 Arteriovenous Malformations, Cerebral C0917804 Q28.2 group C16;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T019 Congenital Abnormality 35 BXGD011414 Transient Cerebral Ischemia C0917805 G45.9 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 98 BXGD011415 Vegetative State C0917808 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 5 BXGD011416 Tetanilla C0917812 phenotype C23;C18;C10 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011417 Spina Bifida, Open C0917813 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 5 BXGD011418 Aphasia, Expressive C0917814 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 5 BXGD011419 Mental deficiency C0917816 F79 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 148 BXGD011420 Neurofibromatosis 3 C0917817 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 5 BXGD011421 Pineocytoma C0917890 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 4 BXGD011422 Pupillary Functions, Abnormal C0917967 H57.0 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD011423 Progressive Muscular Atrophy C0917981 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD011424 Acro-Osteolysis C0917990 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:630 genetic disease T047 Disease or Syndrome 16 BXGD011425 Cerebral Aneurysm C0917996 I67.1 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system T047 Disease or Syndrome 65 BXGD011426 ovarian neoplasm C0919267 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2542 BXGD011427 Genomic Instability C0919532 phenotype C23 Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 5 BXGD011428 Dissection of renal artery C0919563 I77.73 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011429 Impatience C0919568 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD011430 Sudden onset of sleep C0919582 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011431 Upper Extremity Deep Vein Thrombosis, Primary C0919631 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011432 Malignant pleurisy C0919632 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011433 Tumour ulceration C0919645 disease Neoplastic Process T191 Neoplastic Process 7 BXGD011434 Oropharyngeal candidiasis C0919659 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 27 BXGD011435 Protein C measurement C0919677 phenotype Laboratory Procedure T059 Laboratory Procedure 62 BXGD011436 Lupus-like syndrome C0919715 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD011437 Calcification of mitral valve C0919718 disease Disease or Syndrome HP:0000924;HP:0001626 Abnormality of the skeletal system; Abnormality of the cardiovascular system T047 Disease or Syndrome 8 BXGD011438 Engraftment syndrome C0919746 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD011439 Cytokine storm C0919747 disease Disease or Syndrome T047 Disease or Syndrome 97 BXGD011440 Vitamin D measurement C0919758 phenotype Laboratory Procedure T059 Laboratory Procedure 14 BXGD011441 Decreased transferrin saturation C0919785 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 2 BXGD011442 Anti-neutrophil cytoplasmic antibody positive vasculitis C0919818 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011443 Cytolytic hepatitis C0919823 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011444 Hyperfibrinogenemia C0919890 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 9 BXGD011445 Myeloblastoma C0919896 disease Neoplastic Process T191 Neoplastic Process 2 BXGD011446 Ascites infection C0919899 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD011447 Pleural Infection C0919907 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD011448 Tonic clonic movements C0919909 disease Disease or Syndrome T047 Disease or Syndrome 22 BXGD011449 Abulia C0919974 disease Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 9 BXGD011450 Renal cancer metastatic C0919976 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 16 BXGD011451 Metastatic renal carcinoma C0919989 disease Neoplastic Process T191 Neoplastic Process 8 BXGD011452 Thickened Achilles tendon C0919997 disease Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD011453 Cholestatic hepatic disorder C0920027 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD011454 Leukaemia recurrent C0920028 C95.92 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 50 BXGD011455 Radiation-induced liver disease C0920160 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD011456 Idiopathic thrombocytopenia C0920163 disease Disease or Syndrome HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 2 BXGD011457 Fundic gland polyp C0920184 disease C23 Pathological Conditions, Signs and Symptoms Neoplastic Process T191 Neoplastic Process 17 BXGD011458 Photodermatosis C0920193 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD011459 Pisa syndrome C0920233 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD011460 Psoriatic plaque C0920235 disease Disease or Syndrome T047 Disease or Syndrome 12 BXGD011461 Emergence Delirium C0920253 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD011462 Microsatellite Instability C0920269 phenotype C23 Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 15 BXGD011463 Sluggishness C0920289 phenotype C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Sign or Symptom T184 Sign or Symptom 2 BXGD011464 Developmental reading disorder C0920296 F81.0 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 33 BXGD011465 Overriding toe C0920299 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 47 BXGD011466 Autoimmune thyroiditis C0920350 E06.3 disease C20;C19 Immune System Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 161 BXGD011467 Carcinogenesis, Radiation C0920372 phenotype C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 13 BXGD011468 Environment-Related Malignant Neoplasm C0920506 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD011469 Insulin Sensitivity C0920563 phenotype C18 Nutritional and Metabolic Diseases Pathologic Function T046 Pathologic Function 62 BXGD011470 Neoplasm diagnosis C0920605 disease Neoplastic Process T191 Neoplastic Process 1 BXGD011471 Ischemia of kidney C0920646 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 131 BXGD011472 skin irritant C0920652 phenotype Sign or Symptom T184 Sign or Symptom 4 BXGD011473 Myocardial hypoxia C0920715 disease Disease or Syndrome T047 Disease or Syndrome 13 BXGD011474 hormone related neoplasm/cancer C0920776 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD011475 Testicular Feminization C0936016 E34.51 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 24 BXGD011476 Vitamin B 6 Deficiency C0936215 E53.1 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667 disease of metabolism T047 Disease or Syndrome 11 BXGD011477 Metastatic Prostate Carcinoma C0936223 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 362 BXGD011478 HIV-1-Associated Cognitive Motor Complex C0936243 disease C01;C20;C10;F03 Infections; Immune System Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 2 BXGD011479 Brain Embolism and Thrombosis C0936247 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011480 Chondroma C0936248 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 13 BXGD011481 Eczema Herpeticum C0936250 B00.0 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 21 BXGD011482 Polyradiculitis C0936251 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011483 Lysine Alpha-Ketoglutarate Reductase Deficiency Disease C0936256 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD011484 Brain Thrombus C0936261 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD011485 Cerebral Thrombus C0936263 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD011486 Familial Amyloid Polyneuropathy, Type IV C0936273 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011487 Blastoma C0936282 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 20 BXGD011488 Rectal pouch C0939964 disease Acquired Abnormality T020 Acquired Abnormality 3 BXGD011489 pancreatitis as a complication C0940932 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011490 precancerous lesions C0940937 phenotype Neoplastic Process T191 Neoplastic Process 270 BXGD011491 Diagnosis for colon C0941051 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD011492 Ulcerative colitis, quiescent C0941057 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD011493 Cholecystolithiasis C0947622 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 156 BXGD011494 Vascular inflammations C0947751 phenotype C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 305 BXGD011495 [D]Sleep disturbances (& [hypersomnia] or [insomnia]) C0947785 phenotype Sign or Symptom T184 Sign or Symptom 69 BXGD011496 Parkinson's disease and parkinsonism C0947810 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011497 Myasthenias C0947912 disease C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T047 Disease or Syndrome 41 BXGD011498 Atopic disorders C0947961 group Disease or Syndrome T047 Disease or Syndrome 29 BXGD011499 Ischemic stroke C0948008 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1159 BXGD011500 Primary Graft Dysfunction C0948031 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function T046 Pathologic Function 5 BXGD011501 Malignant neoplasm progression C0948048 disease Neoplastic Process T191 Neoplastic Process 1 BXGD011502 Anal infection C0948075 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011503 Corneal defect C0948085 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011504 Acute Coronary Syndrome C0948089 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 440 BXGD011505 Gastrointestinal tract adenoma C0948101 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD011506 Ovarian fibrosis C0948119 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011507 Hepatic siderosis C0948120 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD011508 Splenic Infection C0948149 disease C01;C15 Infections; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011509 Portal vein stenosis C0948153 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011510 Pancreatic Infection C0948160 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011511 Leukoaraiosis C0948163 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 72 BXGD011512 Bone marrow toxicity C0948168 disease Disease or Syndrome T047 Disease or Syndrome 13 BXGD011513 Tracheomalacia C0948187 disease C16;C17;C05;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 30 BXGD011514 Primary infection NOS C0948192 disease Disease or Syndrome T047 Disease or Syndrome 65 BXGD011515 Alloimmunisation C0948201 disease Disease or Syndrome T047 Disease or Syndrome 65 BXGD011516 Intestinal adenocarcinoma C0948209 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 10 BXGD011517 Ovarian adenocarcinoma C0948216 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 43 BXGD011518 Sarcoma of peritoneum C0948222 disease Neoplastic Process T191 Neoplastic Process 1 BXGD011519 Nuchal bleb, familial C0948242 disease C23;C16;C04;C13;C20;C15 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Congenital Abnormality HP:0001939;HP:0001197;HP:0000152 Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth; Abnormality of head or neck DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T019 Congenital Abnormality 24 BXGD011520 Cytokine Release Syndrome C0948245 D89.83 disease C23;C25 Pathological Conditions, Signs and Symptoms; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 29 BXGD011521 Femoral artery occlusion C0948249 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD011522 Neuroborreliosis C0948264 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 12 BXGD011523 Hemodynamic instability C0948268 disease Disease or Syndrome T047 Disease or Syndrome 15 BXGD011524 Beta haemolytic streptococcal infection C0948279 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD011525 Malignant syndrome NOS C0948281 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011526 Carcinoma of peritoneum C0948303 disease Neoplastic Process T191 Neoplastic Process 10 BXGD011527 Transfusion-Related Acute Lung Injury C0948343 J95.84 disease C08;C20;C15 Respiratory Tract Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 24 BXGD011528 Nephroangiosclerosis C0948347 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011529 Myocardial bridging C0948355 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 3 BXGD011530 Periprosthetic osteolysis C0948364 phenotype C05 Musculoskeletal Diseases Pathologic Function T046 Pathologic Function 5 BXGD011531 Kaufman-McKusick syndrome C0948368 disease C16;C13;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 10 BXGD011532 Myocardial reinfarction C0948369 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011533 Impaired insulin secretion C0948379 disease Disease or Syndrome T047 Disease or Syndrome 88 BXGD011534 Cerebral hygroma C0948384 disease Neoplastic Process T191 Neoplastic Process 1 BXGD011535 Secondary Adrenal Insufficiency C0948387 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 20 BXGD011536 Convulsion in childhood C0948391 phenotype Sign or Symptom T184 Sign or Symptom 5 BXGD011537 Hypertrophic pachymeningitis C0948402 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD011538 Venoocclusive disease C0948441 group C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 34 BXGD011539 Mitochondrial DNA mutation C0948444 disease Congenital Abnormality T019 Congenital Abnormality 25 BXGD011540 Coronary Restenosis C0948480 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD011541 Hydroxyprolinuria C0948585 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 8 BXGD011542 Lymphangiosis carcinomatosa C0948588 disease C15 Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 8 BXGD011543 Ocular discomfort C0948595 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD011544 Cancer of lymph node C0948627 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 7 BXGD011545 Hyperuricosuria C0948643 R82.993 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 3 BXGD011546 Adenocarcinoma of liver C0948680 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD011547 Coronary spastic angina C0948698 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Sign or Symptom T184 Sign or Symptom 4 BXGD011548 Infusion-Related Reaction C0948715 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD011549 Gastric candidiasis C0948729 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011550 Hypoplasia of the pituitary gland C0948740 disease Disease or Syndrome HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD011551 Salivary gland carcinoma C0948750 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 47 BXGD011552 Pulmonary failure C0948755 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011553 High weight C0948775 phenotype C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Sign or Symptom T184 Sign or Symptom 12 BXGD011554 Rhinosinusitis C0948780 disease C01;C08;C09 Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 38 BXGD011555 Bronchopulmonary infection C0948783 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011556 Blanching C0948786 phenotype Sign or Symptom T184 Sign or Symptom 7 BXGD011557 Klebsiella pneumoniae infection C0948802 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD011558 Hepatic impairment C0948807 phenotype Disease or Syndrome T047 Disease or Syndrome 9 BXGD011559 Anemia due to blood loss C0948824 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011560 Euthymia C0948853 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 10 BXGD011561 Oxalate crystalluria C0948859 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011562 Flu symptoms C0948873 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011563 Primary hypogonadism C0948896 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000119;HP:0000818 Abnormality of the genitourinary system; Abnormality of the endocrine system T047 Disease or Syndrome 80 BXGD011564 Nephrotoxic serum nephritis C0948908 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD011565 Osteomyelofibrosis C0948968 D47.4 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD011566 Leukemic infiltration of skin C0948976 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD011567 Infection caused by Coxiella C0949056 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD011568 Polyp of large intestine C0949059 disease C23;C06;C04 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T191 Neoplastic Process 99 BXGD011569 Hospital acquired pneumonia C0949083 disease C23;C01;C08 Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 25 BXGD011570 Candida sepsis C0949091 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD011571 Congenital hypoplastic anemia C0949116 D61.01 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD011572 Delayed menarche C0949173 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000119;HP:0000818;HP:0001507 Abnormality of the genitourinary system; Abnormality of the endocrine system; Growth abnormality T047 Disease or Syndrome 6 BXGD011573 IIeocolitis C0949272 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 53 BXGD011574 Gonadal Agenesis C0949331 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD011575 Cervical Dystonia C0949445 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707;HP:0000152;HP:0003011 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculature DOID:7 disease of anatomical entity T184 Sign or Symptom 23 BXGD011576 Luft Disease C0949496 disease C18;C05;C10 Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD011577 Porokeratosis of Mibelli C0949506 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD011578 Hurthle Cell Tumor C0949541 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 170 BXGD011579 Wheat Hypersensitivity C0949570 disease C20 Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD011580 Gonadal Dysgenesis, 46,XX C0949595 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 10 BXGD011581 Uniparental Disomy C0949628 phenotype C23 Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 1 BXGD011582 Cardiomyopathy, Hypertrophic, Familial C0949658 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 83 BXGD011583 Tauopathies C0949664 group C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 245 BXGD011584 Spondylarthritis C0949690 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 158 BXGD011585 Spondylarthropathies C0949691 group C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 92 BXGD011586 Polyomavirus Infections C0949804 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 15 BXGD011587 Electron Transport Chain Deficiencies, Mitochondrial C0949855 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD011588 Oxidative Phosphorylation Deficiencies C0949856 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD011589 Mitochondrial Respiratory Chain Deficiencies C0949857 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 49 BXGD011590 Denys-Drash Syndrome C0950121 disease C16;C04;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 15 BXGD011591 Frasier Syndrome C0950122 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 6 BXGD011592 Disease due to Papilloma virus C0950124 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 16 BXGD011593 Autosomal Chromosome Disorders C0969687 group C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 1 BXGD011594 Arthritis, Collagen-Induced C0971858 disease C05 Musculoskeletal Diseases Experimental Model of Disease T050 Experimental Model of Disease 43 BXGD011595 Dysphasia C0973461 R47.02 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 63 BXGD011596 Arthritis, Experimental C0993582 disease C05 Musculoskeletal Diseases Experimental Model of Disease T050 Experimental Model of Disease 43 BXGD011597 Anoxia of brain C0995195 phenotype C10 Nervous System Diseases Pathologic Function T046 Pathologic Function 2 BXGD011598 Progressive multiple sclerosis C1095979 disease Disease or Syndrome T047 Disease or Syndrome 37 BXGD011599 Bronchopulmonary disease C1096000 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011600 Drug Resistant Epilepsy C1096063 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 184 BXGD011601 Deformity of lower limb C1096086 disease Anatomical Abnormality HP:0040064 Abnormality of limbs T190 Anatomical Abnormality 11 BXGD011602 Iris transillumination defect C1096099 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 3 BXGD011603 Acquired haemophilia C1096116 D68.311 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD011604 Kinsbourne Syndrome C1096154 disease C04;C11;C10 Neoplasms; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011605 Macrophage Activation Syndrome C1096155 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 57 BXGD011606 Chromosome 17 trisomy C1096168 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 6 BXGD011607 West Nile viral infection C1096184 A92.30 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 164 BXGD011608 Type II hypersensitivity C1096189 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011609 Immune reconstitution syndrome C1096197 D89.3 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD011610 Lipoprotein (a) measurement C1096202 phenotype Laboratory Procedure T059 Laboratory Procedure 23 BXGD011611 Gait deviation C1096245 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD011612 Calcification of the aorta C1096249 phenotype Pathologic Function HP:0000924;HP:0001626 Abnormality of the skeletal system; Abnormality of the cardiovascular system T046 Pathologic Function 21 BXGD011613 Gastrointestinal discomfort C1096250 phenotype Sign or Symptom T184 Sign or Symptom 4 BXGD011614 Cardiac infection C1096253 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011615 Arterial fibrosis C1096285 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD011616 Macroangiopathy C1096293 disease Disease or Syndrome T047 Disease or Syndrome 31 BXGD011617 Placental dysplasia C1096298 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD011618 Increased mean platelet volume C1096367 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 10 BXGD011619 Near sudden infant death syndrome C1096378 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD011620 Slight temperature C1096446 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD011621 Neonatal Early-Onset Sepsis C1096452 disease C23;C16;C01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections Disease or Syndrome T047 Disease or Syndrome 12 BXGD011622 Vascular occlusion C1096458 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 30 BXGD011623 Hereditary factor VIII deficiency disease without inhibitor C1096487 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011624 Hereditary factor IX deficiency disease without inhibitor C1096488 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011625 Gastroduodenal haemorrhage C1096494 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011626 Mosaic trisomy 8 syndrome C1096527 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD011627 Superficial punctate keratopathy C1096543 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD011628 Infection caused by Malassezia C1096560 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011629 Klebsiella oxytoca infection C1096567 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD011630 Staphylococcus epidermidis infection C1096572 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD011631 Campylobacter jejuni infection C1096582 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 5 BXGD011632 Chlamydia pneumoniae Infections C1096584 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 13 BXGD011633 Postoperative hip pain C1096605 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD011634 Corneal crystalline deposits C1096610 phenotype Pathologic Function HP:0000478 Abnormality of the eye T046 Pathologic Function 2 BXGD011635 Contralateral breast cancer C1096616 disease Neoplastic Process T191 Neoplastic Process 24 BXGD011636 Peritoneal lesion C1096618 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011637 Cardiac fibroma C1096654 disease C04;C14 Neoplasms; Cardiovascular Diseases Neoplastic Process HP:0002664;HP:0001626 Neoplasm; Abnormality of the cardiovascular system T191 Neoplastic Process 4 BXGD011638 Thyroid cancer metastatic C1096666 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 15 BXGD011639 BK virus infection C1096691 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD011640 Lactescent serum C1096710 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD011641 Pain during injection C1096717 phenotype Sign or Symptom T184 Sign or Symptom 3 BXGD011642 Neonatal Late-Onset Sepsis C1096721 disease C23;C16;C01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD011643 Late onset neonatal pneumonia C1096722 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011644 Infantile Sialic Acid Storage Disease C1096902 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011645 Sialic Acid Storage Disease, Finnish Type (disorder) C1096903 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 47 BXGD011646 Hepatitis viral infections C1112152 group Disease or Syndrome T047 Disease or Syndrome 1 BXGD011647 Hereditary non-polyposis colorectal cancer syndrome C1112155 disease Congenital Abnormality DOID:630 genetic disease T019 Congenital Abnormality 31 BXGD011648 Intrauterine infection C1112157 disease Disease or Syndrome T047 Disease or Syndrome 30 BXGD011649 Gastrooesophageal cancer C1112160 disease Neoplastic Process T191 Neoplastic Process 26 BXGD011650 Transient psychosis C1112173 disease F03 Mental Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD011651 Panencephalitis C1112174 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD011652 Abdominal Infection C1112209 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 23 BXGD011653 Hepatic Infection C1112211 disease C23;C06;C01 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 24 BXGD011654 Cholestasis in newborn C1112213 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD011655 Sensorimotor neuropathy C1112256 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 93 BXGD011656 Gaze palsy C1112261 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD011657 Tissue anoxia C1112262 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD011658 Atypical benign partial epilepsy C1112263 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011659 Diabetic gastroenteropathy C1112275 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD011660 Adenoviral hepatitis C1112306 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011661 Congenital cutis laxa C1112321 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011662 Multifocal micronodular pneumocyte hyperplasia C1112324 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD011663 Apoptotic DNA damage C1112338 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD011664 Connective tissue inflammation C1112341 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011665 Bronchial dysplasia C1112356 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD011666 Interferon gamma receptor deficiency C1112429 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011667 Thromboembolic stroke C1112433 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 13 BXGD011668 Female sexual dysfunction C1112442 disease Mental or Behavioral Dysfunction HP:0000119 Abnormality of the genitourinary system T048 Mental or Behavioral Dysfunction 22 BXGD011669 Male sexual dysfunction C1112443 N53.9 disease Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 12 BXGD011670 Unresectable Hepatocellular Carcinoma C1112459 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 14 BXGD011671 Aeromonas hydrophila infection C1112472 disease Disease or Syndrome T047 Disease or Syndrome 16 BXGD011672 Small cell carcinoma of esophagus C1112474 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD011673 Aggressive Systemic Mastocytosis C1112486 C96.21 disease C04;C20 Neoplasms; Immune System Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 13 BXGD011674 Tubular adenoma of colon C1112503 disease Neoplastic Process T191 Neoplastic Process 3 BXGD011675 Leukoplakia of oral mucosa, incl tongue C1112530 K13.2 disease C06;C07 Digestive System Diseases; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD011676 Polyp of cecum C1112566 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD011677 Paraneoplastic pemphigus C1112570 L10.81 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 12 BXGD011678 Granulomatous ileocolitis C1112574 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD011679 Hypertonic dehydration C1112601 disease C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 3 BXGD011680 Peripheral artery dissection C1112654 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011681 Nuclear non-senile cataract C1112705 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 69 BXGD011682 non-gonococcal urethritis (NGU) C1112709 N34.1 disease C23;C13;C01;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD011683 Gastric infection C1112734 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD011684 Gastrooesophageal heterotopia C1112740 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011685 Hepatic lymphoma C1112746 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD011686 Anterior subcapsular cataract C1112768 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 10 BXGD011687 Thyroid hyperplasia C1112776 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 1 BXGD011688 Invasive Ductal Breast Carcinoma C1134719 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 414 BXGD011689 Breakthrough Pain C1135120 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 4 BXGD011690 Stage 4S neuroblastoma C1135161 disease Neoplastic Process T191 Neoplastic Process 45 BXGD011691 Critical illness myopathy C1135188 G72.81 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD011692 Heart Failure, Systolic C1135191 I50.20 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 49 BXGD011693 Chronic systolic heart failure C1135194 I50.22 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD011694 Heart Failure, Diastolic C1135196 I50.30 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 55 BXGD011695 Persistent pulmonary hypertension C1135361 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD011696 Meningitis, Meningococcal, Serogroup A C1135745 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD011697 Meningitis, Meningococcal, Serogroup B C1135746 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD011698 Meningitis, Meningococcal, Serogroup C C1135747 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD011699 Acquired Metabolic Diseases, Nervous System C1135773 group C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011700 Gestational Trophoblastic Neoplasms C1135868 group C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 98 BXGD011701 Hemorrhagic Septicemia, Viral C1135869 disease C23;C01;C22 Pathological Conditions, Signs and Symptoms; Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD011702 Wasting Disease, Chronic C1135993 disease C01;C10;C22 Infections; Nervous System Diseases; Animal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD011703 Cutaneous Mastocytosis C1136033 D47.01 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002715;HP:0002664;HP:0001871 Abnormality of the integument; Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T191 Neoplastic Process 127 BXGD011704 Familial Acoustic Neuroma C1136041 disease C16;C04;C10;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 1 BXGD011705 Neuroma, Acoustic, Bilateral C1136042 disease C16;C04;C10;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process HP:0000707;HP:0002664;HP:0000598 Abnormality of the nervous system; Neoplasm; Abnormality of the ear DOID:630 genetic disease T191 Neoplastic Process 4 BXGD011706 Schwannoma, Acoustic, Bilateral C1136043 disease C16;C04;C10;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 1 BXGD011707 Embryo Disintegration C1136082 phenotype C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function T046 Pathologic Function 7 BXGD011708 Plasma cell dyscrasia C1136084 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 36 BXGD011709 Monoclonal Gammapathies C1136085 D47.2 group C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 62 BXGD011710 Water Stress C1136135 disease C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD011711 Posterior Tibial Tendon Dysfunction C1136154 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011712 Hammer Toe C1136179 phenotype C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 46 BXGD011713 Meningitis, Meningococcal, Serogroup Y C1136209 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD011714 Meningitis, Meningococcal, Serogroup W-135 C1136210 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD011715 Mental Retardation, X-Linked C1136249 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 141 BXGD011716 HIV-Associated Lipodystrophy Syndrome C1136321 disease C18;C01;C17;C20 Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD011717 Sclerocystic Ovaries C1136382 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 144 BXGD011718 Malignant neoplasm of ovary C1140680 C56 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2563 BXGD011719 Cerebral Cavernous Hemangioma C1140710 disease C16;C04;C10;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD011720 Hypoxic Brain Damage C1140716 phenotype C10 Nervous System Diseases Pathologic Function DOID:7 disease of anatomical entity T046 Pathologic Function 2 BXGD011721 Congenital long QT syndrome C1141890 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 30 BXGD011722 Shunt infection C1141920 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD011723 Abdominal sepsis C1141926 disease Disease or Syndrome T047 Disease or Syndrome 18 BXGD011724 Wound sepsis C1141927 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011725 Multi-organ disorder C1141933 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011726 HIV disease progression C1141957 disease Disease or Syndrome T047 Disease or Syndrome 54 BXGD011727 Stage IV Esophageal Squamous Cell Carcinoma C1142025 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD011728 Vitamin E Assay C1142098 phenotype Laboratory Procedure T059 Laboratory Procedure 3 BXGD011729 Abdominal Compartment Syndrome C1142110 disease C05;C14 Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011730 Infectious Enterocolitis C1142115 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011731 Meningococcal bacteraemia C1142126 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011732 Pneumococcal bacteraemia C1142127 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 12 BXGD011733 Carnitine deficiency C1142132 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 15 BXGD011734 Autoimmune nephritis C1142150 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011735 Heart valve calcification C1142152 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD011736 Brugada Syndrome (disorder) C1142166 I49.8 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 66 BXGD011737 Recurrent Acute Myeloid Leukemia C1142169 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD011738 Epimacular membrane C1142216 phenotype Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD011739 Granulomatous iritis C1142223 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011740 Call-Fleming syndrome C1142239 I67.841 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011741 Infected cyst C1142249 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011742 Arthrofibrosis C1142253 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD011743 Intestinal edema C1142262 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0025031;HP:0001939 Abnormality of the digestive system; Abnormality of metabolism/homeostasis T046 Pathologic Function 2 BXGD011744 Neutrophilic dermatosis C1142272 disease Disease or Syndrome T047 Disease or Syndrome 12 BXGD011745 Nevus cell nevus C1142274 disease Neoplastic Process T191 Neoplastic Process 2 BXGD011746 Renal anemia C1142276 disease Disease or Syndrome T047 Disease or Syndrome 12 BXGD011747 Brown urine C1142277 phenotype Finding T033 Finding 1 BXGD011748 Melanonychia C1142305 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 2 BXGD011749 Paratubal Cyst C1142307 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Disease or Syndrome T047 Disease or Syndrome 1 BXGD011750 Intestinal adenoma C1142339 disease Neoplastic Process T191 Neoplastic Process 23 BXGD011751 Neurotmesis C1142379 disease C10;C26 Nervous System Diseases; Wounds and Injuries Injury or Poisoning T037 Injury or Poisoning 2 BXGD011752 Myoglobinaemia C1142397 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011753 Bacteremia due to Staphylococcus aureus C1142423 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 17 BXGD011754 Sundowning C1142436 F05 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD011755 Intrahepatic biloma C1142442 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011756 Apraxia of eyelid C1142448 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding HP:0000707;HP:0000152 Abnormality of the nervous system; Abnormality of head or neck T033 Finding 5 BXGD011757 Lupus anticoagulant measurement C1142517 phenotype Laboratory Procedure T059 Laboratory Procedure 5 BXGD011758 Smooth philtrum C1142533 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 105 BXGD011759 Pneumonia due to methicillin resistant Staphylococcus aureus C1142536 J15.212 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD011760 Native valve endocarditis C1142550 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD011761 Primary HIV infection C1142553 disease C01;C20 Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 38 BXGD011762 Hypertensive cardiomyopathy C1144799 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD011763 Autonomic nervous system disorders C1145628 G90 group C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 73 BXGD011764 Respiratory Failure C1145670 J96.9 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system T047 Disease or Syndrome 319 BXGD011765 Deafness, Sudden C1148477 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom T184 Sign or Symptom 6 BXGD011766 X-Linked Dyskeratosis Congenita C1148551 disease C16;C17;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 17 BXGD011767 peptidylamidoglycolate lyase activity C1150891 phenotype Molecular Function T044 Molecular Function 1 BXGD011768 2-oxo-hept-3-ene-1,7-dioate hydratase activity C1150929 phenotype Molecular Function T044 Molecular Function 14 BXGD011769 Endometrial adenocarcinoma C1153706 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 212 BXGD011770 sensory perception of bitter taste C1154610 phenotype Organism Function T040 Organism Function 5 BXGD011771 Situs ambiguous C1167664 disease Congenital Abnormality T019 Congenital Abnormality 9 BXGD011772 Epidermal necrosis C1167709 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011773 Stage I Gallbladder Carcinoma C1167716 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD011774 Neutropenic infection C1167779 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011775 Lung hyperinflation C1167782 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD011776 Skin toxicity C1167791 disease Disease or Syndrome T047 Disease or Syndrome 62 BXGD011777 Increased alpha-globulin C1167806 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD011778 Coagulation factor measurement C1167912 phenotype Laboratory Procedure T059 Laboratory Procedure 14 BXGD011779 Increased CSF lactate C1167918 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 87 BXGD011780 Arterial calcification C1168153 phenotype C18 Nutritional and Metabolic Diseases Pathologic Function HP:0000924;HP:0001626 Abnormality of the skeletal system; Abnormality of the cardiovascular system T046 Pathologic Function 2 BXGD011781 Septicopyemia C1168186 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011782 Recurrent respiratory papillomatosis C1168198 disease C01;C08 Infections; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 37 BXGD011783 Asymmetry of the ears C1168239 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 4 BXGD011784 Laryngopharyngeal Reflux C1168250 disease C06;C08 Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 23 BXGD011785 Melalgia C1168279 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD011786 Corneal melt C1168305 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD011787 High-Grade Prostatic Intraepithelial Neoplasia C1168327 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 111 BXGD011788 Low Grade Prostatic Intraepithelial Neoplasia C1168328 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 7 BXGD011789 Flash pulmonary oedema C1168329 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011790 Non-ischemic dilated cardiomyopathy C1168330 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD011791 Apical myocardial infarction C1168331 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011792 Squamous cell carcinoma of the head and neck C1168401 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 1543 BXGD011793 Protein C antigen measurement C1168438 phenotype Laboratory Procedure T059 Laboratory Procedure 62 BXGD011794 Pseudocholinesterase Measurement C1168443 phenotype Laboratory Procedure T059 Laboratory Procedure 39 BXGD011795 Kallikrein hypertension C1171349 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011796 Renoprival hypertension C1171363 disease C13;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011797 Severe Acute Respiratory Syndrome C1175175 J12.81 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 117 BXGD011798 Ductal Carcinoma C1176475 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 273 BXGD011799 Thoracic kyphosis C1184919 phenotype C05 Musculoskeletal Diseases Finding HP:0000924 Abnormality of the skeletal system T033 Finding 21 BXGD011800 Lumbar hyperlordosis C1184923 disease C05 Musculoskeletal Diseases Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 92 BXGD011801 Hair whorls C1185616 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 9 BXGD011802 Child Malnutrition C1257753 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD011803 Overnutrition C1257763 phenotype C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 54 BXGD011804 Choledochal Cyst, Type II C1257796 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality T019 Congenital Abnormality 5 BXGD011805 Choledochal Cyst, Type III C1257797 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality T019 Congenital Abnormality 5 BXGD011806 Choledochal Cyst, Type IV C1257798 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality T019 Congenital Abnormality 5 BXGD011807 Choledochal Cyst, Type V C1257799 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality T019 Congenital Abnormality 5 BXGD011808 Chromosomal Instability C1257806 phenotype C23 Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 8 BXGD011809 Aganglionosis, Rectosigmoid Colon C1257840 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality T019 Congenital Abnormality 15 BXGD011810 pseudomembranous colitis C1257843 A04.7 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD011811 Colonic Inertia C1257861 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025031 Abnormality of the digestive system T184 Sign or Symptom 6 BXGD011812 Pheochromocytoma, Extra-Adrenal C1257877 disease C04 Neoplasms Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 38 BXGD011813 Intestinal Polyposis C1257915 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T047 Disease or Syndrome 49 BXGD011814 Mammary Carcinoma, Animal C1257925 disease C04;C22 Neoplasms; Animal Diseases Neoplastic Process T191 Neoplastic Process 144 BXGD011815 Mammary Neoplasms, Human C1257931 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 527 BXGD011816 Glucose Metabolism Disorders C1257958 group C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 32 BXGD011817 Mannosidase Deficiency Diseases C1257960 E77.1 group C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD011818 Endogenous Hyperinsulinism C1257963 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 26 BXGD011819 Exogenous Hyperinsulinism C1257964 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 26 BXGD011820 Compensatory Hyperinsulinemia C1257965 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 30 BXGD011821 Henipavirus Infections C1258039 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD011822 Barrett Epithelium C1258085 disease C06;C04 Digestive System Diseases; Neoplasms Disease or Syndrome T047 Disease or Syndrome 52 BXGD011823 Diffuse Scleroderma C1258104 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 56 BXGD011824 Ileus C1258215 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T047 Disease or Syndrome 20 BXGD011825 Myxoid cyst C1258666 M67.4 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 106 BXGD011826 Dendritic Cell Sarcoma, Follicular C1260325 C96.4 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 16 BXGD011827 Dendritic Cell Sarcoma, Interdigitating C1260326 C96.4 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD011828 Glucocorticoid-remediable aldosteronism C1260386 E26.02 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 30 BXGD011829 Alpha thalassemia intermedia C1260396 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD011830 Alpha thalassemia minor C1260397 D56.3 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011831 Splenic sequestration C1260402 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD011832 prothrombin gene mutation C1260403 D68.52 phenotype C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 23 BXGD011833 frontal dementia C1260405 G31.09 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 2 BXGD011834 Acute ulcerative colitis C1260710 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD011835 Aortic valve disorder C1260873 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 58 BXGD011836 Infective dermatitis C1260874 L30.3 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD011837 Rhinorrhea C1260880 phenotype C01;C08;C09 Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Sign or Symptom HP:0002086 Abnormality of the respiratory system T184 Sign or Symptom 19 BXGD011838 Allergic bronchitis C1260881 J45 disease C01;C08;C20 Infections; Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD011839 Mural thrombus of heart C1260883 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD011840 Hypertrophic obesity C1260894 disease C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD011841 Anemia, Diamond-Blackfan C1260899 D61.01 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 86 BXGD011842 Dysfibrinogenemia C1260903 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 13 BXGD011843 Abnormal breathing C1260922 R06 phenotype C08 Respiratory Tract Diseases Finding HP:0002086 Abnormality of the respiratory system T033 Finding 5 BXGD011844 Abnormal pigmentation C1260926 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 58 BXGD011845 Morphologically altered structure C1260954 disease Anatomical Abnormality T190 Anatomical Abnormality 46 BXGD011846 Drusen C1260959 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 57 BXGD011847 Eccrine ductal carcinoma C1260964 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD011848 Lipoblastoma C1260965 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 20 BXGD011849 Central odontogenic fibroma C1260966 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD011850 Pontoneocerebellar hypoplasia C1261175 disease Disease or Syndrome T047 Disease or Syndrome 27 BXGD011851 Agenesis of vagina C1261251 Q52.0 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 1 BXGD011852 Stenosis C1261287 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 19 BXGD011853 Fasting blood sugar result C1261430 phenotype Laboratory or Test Result T034 Laboratory or Test Result 65 BXGD011854 Congenital meningocele C1261470 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality DOID:0080015 physical disorder T019 Congenital Abnormality 33 BXGD011855 Sarcoma C1261473 group C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:14566 disease of cellular proliferation T191 Neoplastic Process 853 BXGD011856 Finding of Mean Corpuscular Hemoglobin C1261502 phenotype Finding T033 Finding 653 BXGD011857 Congenital absence of both testes C1261504 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 3 BXGD011858 Type I hyperlipidaemia C1261969 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011859 Chondrosis C1261982 disease C17;C05 Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD011860 Ischaemic cerebral infarction C1262005 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD011861 Bacterial sinusitis C1262006 disease C01;C08;C09 Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011862 Post lumbar puncture syndrome C1262010 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011863 Uremic pruritus C1262019 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD011864 Diffuse alveolar damage C1262020 disease Disease or Syndrome T047 Disease or Syndrome 22 BXGD011865 Diabetic cystopathy C1262037 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD011866 Glial scar C1262048 phenotype Acquired Abnormality T020 Acquired Abnormality 51 BXGD011867 Lymphocytic infiltration C1262091 disease Disease or Syndrome T047 Disease or Syndrome 84 BXGD011868 Congenital hyperthyroidism C1262098 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011869 Neuromuscular toxicity C1262106 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011870 Lipohypertrophy C1262113 disease C18;C17 Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD011871 Fungal keratitis C1262117 disease C23;C01;C11 Pathological Conditions, Signs and Symptoms; Infections; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 21 BXGD011872 Scleroderma renal crisis C1262147 disease C13;C17;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD011873 Grip strength decreased C1262148 phenotype Sign or Symptom T184 Sign or Symptom 3 BXGD011874 Cerebrovascular infarction C1262200 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011875 Lymphocytic alveolitis C1262202 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011876 Diarrhoea predominant irritable bowel syndrome C1262211 disease Disease or Syndrome T047 Disease or Syndrome 57 BXGD011877 IgM gammopathy C1262216 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011878 Dysmetabolic syndrome C1262289 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD011879 Oral wart C1262299 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD011880 High turnover bone disease C1262307 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011881 Invasive Fungal Infections C1262313 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 52 BXGD011882 Weight decreased C1262477 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001507 Growth abnormality T033 Finding 271 BXGD011883 Eosinophilic gastroenteritis C1262481 disease C06;C15 Digestive System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 6 BXGD011884 Hereditary stomatocytosis C1262483 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD011885 Hepatocellular jaundice C1262535 phenotype C06 Digestive System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD011886 Hepatitis, Drug-Induced C1262760 disease C06;C25 Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 418 BXGD011887 Osteoprotegerin test C1262886 phenotype Laboratory Procedure T059 Laboratory Procedure 3 BXGD011888 Macroorchidism C1263023 disease Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 16 BXGD011889 Advanced cirrhosis C1263666 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD011890 Chronic metabolic disorder C1263722 group C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011891 Sulfatiduria C1263726 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD011892 Uroporphyrinuria C1263733 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD011893 Coproporphyrinuria C1263734 disease C16;C06;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011894 Disorder of organic acid metabolism C1263739 group C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011895 Female genital tract infection C1263758 group C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 2 BXGD011896 Endocervical adenocarcinoma C1263762 disease Neoplastic Process T191 Neoplastic Process 14 BXGD011897 Attention deficit hyperactivity disorder C1263846 F90.9 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 842 BXGD011898 Paralytic stroke C1263853 disease C10;F03;C14 Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011899 Lumbar radiculopathy C1263855 M54.16 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD011900 Peripheral axonal neuropathy C1263857 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 94 BXGD011901 Muscular dystrophy congenital, merosin negative C1263858 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 12 BXGD011902 Neoplasm of cerebrum C1263885 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD011903 Neoplasm of temporal lobe C1263887 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD011904 Neoplasm of cauda equina C1263892 disease C10 Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD011905 Hemolytic disorder C1263988 disease C16;C13;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD011906 Regenerative anemia C1263989 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD011907 Sickle cell-Hemoglobin O Arab disease C1264000 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011908 Alloimmune thrombocytopenia C1264031 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD011909 von Willebrand Disease, Type 1 C1264039 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 39 BXGD011910 von Willebrand Disease, Type 2 C1264040 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD011911 von Willebrand Disease, Type 3 C1264041 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 11 BXGD011912 Follicular non-Hodgkin's lymphoma, large cell C1264190 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD011913 Refractory anemia with ringed sideroblasts C1264195 D46.1 disease C15 Hemic and Lymphatic Diseases Neoplastic Process HP:0002664;HP:0001871 Neoplasm; Abnormality of blood and blood-forming tissues T191 Neoplastic Process 36 BXGD011914 Persistent infection C1264606 phenotype C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 13 BXGD011915 Infectious peritonitis C1264610 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 11 BXGD011916 Trephine hole C1265713 disease Acquired Abnormality T020 Acquired Abnormality 5 BXGD011917 Progonoma C1265730 disease Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD011918 Orthokeratinized odontogenic cyst C1265736 disease C16;C04;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality T190 Anatomical Abnormality 3 BXGD011919 Lateral protrusion C1265752 disease Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD011920 Calcified aneurysm C1265768 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011921 Multiple aneurysms C1265769 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD011922 Diffuse telangiectasis C1265776 phenotype C14 Cardiovascular Diseases Finding HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system T033 Finding 1 BXGD011923 Chronic emphysema C1265792 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 1 BXGD011924 Eggshell calcium deposition C1265884 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD011925 Hyperparakeratosis C1265968 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 2 BXGD011926 Clear cell tumor C1265994 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD011927 Large cell neuroendocrine carcinoma C1265996 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 91 BXGD011928 Glassy cell carcinoma C1265998 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD011929 Non-small cell carcinoma C1266002 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 33 BXGD011930 Basaloid squamous cell carcinoma C1266005 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 26 BXGD011931 Adenoid basal carcinoma C1266007 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD011932 Trichilemmocarcinoma C1266009 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD011933 Papillary transitional cell neoplasm of low malignant potential C1266010 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD011934 Hepatocellular carcinoma, scirrhous C1266018 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD011935 Traditional Serrated Adenoma C1266025 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 90 BXGD011936 Enterochromaffin-like cell carcinoid C1266029 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD011937 Atypical carcinoid tumor C1266032 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 7 BXGD011938 Chromophobe Renal Cell Carcinoma C1266042 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 185 BXGD011939 Sarcomatoid Renal Cell Carcinoma C1266043 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 134 BXGD011940 Collecting Duct Carcinoma of the Kidney C1266044 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 162 BXGD011941 Metanephric adenoma C1266045 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD011942 Atypical follicular adenoma C1266046 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD011943 Fetal adenocarcinoma C1266047 disease Neoplastic Process T191 Neoplastic Process 2 BXGD011944 Hyalinizing trabecular adenoma C1266049 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD011945 Poorly Differentiated Thyroid Carcinoma C1266050 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 54 BXGD011946 Papillary microcarcinoma C1266051 disease Neoplastic Process T191 Neoplastic Process 13 BXGD011947 Malignant eccrine spiradenoma C1266063 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD011948 Eccrine porocarcinoma C1266065 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD011949 Intraductal papillary-mucinous adenoma C1266071 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD011950 Intraductal papillary-mucinous carcinoma, invasive C1266074 disease Neoplastic Process T191 Neoplastic Process 1 BXGD011951 Atypical medullary carcinoma C1266082 disease Neoplastic Process T191 Neoplastic Process 3 BXGD011952 Polymorphous low grade adenocarcinoma C1266086 disease Neoplastic Process T191 Neoplastic Process 23 BXGD011953 Adenocarcinoma with neuroendocrine differentiation C1266088 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD011954 Metaplastic carcinoma C1266089 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 14 BXGD011955 Hepatoid adenocarcinoma C1266090 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 7 BXGD011956 Thymoma, type A C1266091 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD011957 Thymoma, type AB C1266092 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD011958 Thymoma, type B2 C1266095 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD011959 Carcinoma showing thymus-like element C1266100 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD011960 Thymic epithelial tumor C1266101 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD011961 Large cell calcifying Sertoli cell tumor C1266109 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD011962 Glomus tumor, malignant C1266111 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD011963 Diffuse melanocytosis C1266112 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD011964 Solitary fibrous tumor C1266119 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 58 BXGD011965 Myofibroma (morphologic abnormality) C1266121 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD011966 Angiomyofibroblastoma C1266123 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD011967 tumor miofibroblastico peribronquial congenito C1266124 disease Neoplastic Process T191 Neoplastic Process 3 BXGD011968 Histiocytoma, Angiomatoid Fibrous C1266127 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 28 BXGD011969 Ossifying fibromyxoid tumor C1266128 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 16 BXGD011970 Atypical Lipoma C1266129 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 70 BXGD011971 Metastasizing leiomyoma C1266132 disease C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD011972 Spindle cell rhabdomyosarcoma C1266134 disease C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD011973 Benign cystic nephroma C1266138 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD011974 Cystic Partially Differentiated Nephroblastoma C1266139 disease Neoplastic Process T191 Neoplastic Process 1 BXGD011975 Nephrogenic adenofibroma C1266141 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD011976 Pleuropulmonary blastoma C1266144 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0002086 Neoplasm; Abnormality of the respiratory system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 20 BXGD011977 Adenomyoepithelioma C1266146 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD011978 Neuroendocrine tumor grade 1 C1266147 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD011979 Intratubular malignant germ cells C1266157 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 16 BXGD011980 Nongerminomatous Germ Cell Tumor C1266158 disease C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 34 BXGD011981 Trophoblastic tumor, epithelioid C1266159 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD011982 Intraosseous well differentiated osteosarcoma C1266163 disease Neoplastic Process T191 Neoplastic Process 2 BXGD011983 High grade surface osteosarcoma C1266165 disease Neoplastic Process T191 Neoplastic Process 2 BXGD011984 Intracortical osteosarcoma C1266166 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD011985 Chondrosarcoma, Clear Cell C1266167 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD011986 Parachordoma C1266175 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 3 BXGD011987 Dysembryoplastic neuroepithelial tumor C1266177 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 17 BXGD011988 Gliofibroma C1266178 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD011989 Large cell medulloblastoma C1266180 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD011990 Dysplastic gangliocytoma of cerebellum (Lhermitte-Duclos) C1266181 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD011991 Atypical Teratoid Rhabdoid Tumor C1266184 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 84 BXGD011992 Retinoblastoma, spontaneously regressed C1266186 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 12 BXGD011993 Lymphocyte Rich Classical Hodgkin Lymphoma C1266194 C81.4 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 15 BXGD011994 Polybrominated biphenyl measurement C1266708 phenotype Laboratory Procedure T059 Laboratory Procedure 12 BXGD011995 Porphyric polyneuropathy C1268588 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD011996 Localized candidiasis C1268606 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD011997 Congenital Thrombotic Thrombocytopenic Purpura C1268935 disease C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 36 BXGD011998 Diarrhea-associated hemolytic uremic syndrome C1268936 disease C23;C13;C12;C15 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD011999 Diarrhea-negative hemolytic uremic syndrome C1268937 disease C13;C12;C15 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012000 Myelodysplastic syndrome, no ICD-O subtype C1268964 disease C15 Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD012001 Major Depressive Disorder C1269683 F32.9 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1236 BXGD012002 Caliectasis C1269700 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 3 BXGD012003 Infection due to resistant organism C1269831 group C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD012004 Keratosis lichenoides chronica C1269841 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD012005 Tumor Cell Invasion C1269955 phenotype Neoplastic Process T191 Neoplastic Process 6626 BXGD012006 Mild cognitive disorder C1270972 G31.84 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 430 BXGD012007 Lower limb spasticity C1271100 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 43 BXGD012008 Congenital ectopic pupil C1271219 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 14 BXGD012009 Pigment dispersion syndrome (disorder) C1271398 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD012010 Scotopic sensitivity C1272174 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD012011 Autoantibody measurement C1272321 phenotype Laboratory Procedure T059 Laboratory Procedure 27 BXGD012012 Disorder of vitamin B12 C1272348 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD012013 Deficiency of vitamin D3 C1272352 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD012014 Small cell glioblastoma C1272516 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD012015 Secondary angle-closure glaucoma - synechial C1272657 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD012016 Minimal deviation adenocarcinoma of endocervical type C1272765 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012017 Follicular bronchiolitis C1272766 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD012018 Left ventricular diastolic dysfunction C1273070 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 31 BXGD012019 Upper limb spasticity C1273957 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 14 BXGD012020 First myocardial infarction C1273976 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD012021 Oncogenic osteomalacia C1274103 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 22 BXGD012022 Lupus erythematosus overlap syndrome C1274161 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012023 IgA pemphigus C1274167 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012024 Autosomal dominant ichthyosis C1274214 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD012025 Punctate palmoplantar keratoderma C1274216 disease Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 4 BXGD012026 Inherited epidermolysis bullosa C1274224 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 5 BXGD012027 Chylomicronemia syndrome C1274228 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD012028 T-lymphocyte immunodeficiency C1274233 disease C20 Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD012029 Febrile Ulceronecrotic Mucha-Habermann disease C1274297 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD012030 Primary cutaneous B-cell lymphoma C1274310 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 16 BXGD012031 Recurrent herpes simplex infection of eye C1274320 disease C01;C11 Infections; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD012032 Recurrent herpes simplex labialis C1274321 disease C01;C17;C07 Infections; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012033 Recurrent genital herpes simplex C1274323 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD012034 Streptococcal infection of skin C1274355 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012035 Vibrio vulnificus infection C1274377 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD012036 Chronic plaque-like oral candidiasis C1274408 disease C01;C07 Infections; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012037 Lichenoid actinic keratosis C1274594 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012038 Segmental vitiligo C1274648 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD012039 Hypopigmented scar C1274651 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD012040 Postmenopausal frontal fibrosing alopecia C1274700 disease Disease or Syndrome T047 Disease or Syndrome 11 BXGD012041 Central centrifugal cicatricial alopecia C1274708 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD012042 Atrophic acne scar C1274728 disease Disease or Syndrome T047 Disease or Syndrome 13 BXGD012043 Hyperhidrosis Palmaris Et Plantaris C1274743 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T047 Disease or Syndrome 10 BXGD012044 Atopic keratoconjunctivitis C1274788 disease C11;C20 Eye Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD012045 Ligneous conjunctivitis C1274789 H10.51 disease C16;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD012046 Urban Schosser Spohn syndrome C1274795 disease C23;C16;C17 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 6 BXGD012047 Port-wine stain with oculocutaneous melanosis C1274879 disease C16;C17;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD012048 Cutaneous allodynia C1274924 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 3 BXGD012049 Skin-ache syndrome C1274925 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD012050 Stinging of skin C1274926 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD012051 Drug-Induced Stevens Johnson Syndrome C1274933 disease C17;C20;C25;C07 Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 31 BXGD012052 Drug-induced panniculitis C1274943 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012053 Retinoid dermatitis C1274989 disease C17;C20;C25 Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 9 BXGD012054 Skin flap necrosis C1274999 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD012055 Acrocephalopolysyndactyly type 2 C1275078 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD012056 Cardio-facio-cutaneous syndrome C1275081 disease C23;C16;C17;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Congenital Abnormality DOID:630;DOID:225 genetic disease; syndrome T019 Congenital Abnormality 28 BXGD012057 Ichthyosis follicularis with alopecia and photophobia (IFAP) C1275091 disease Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 2 BXGD012058 Keratoderma with deafness C1275100 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD012059 Epidermolysis Bullosa Pruriginosa C1275114 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD012060 Familial multiple trichoepitheliomata C1275122 disease C16;C04;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 317 BXGD012061 Inherited disorder of porphyrin metabolism C1275125 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012062 TNF receptor-associated periodic fever syndrome (TRAPS) C1275126 disease C23;C16;C17 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 90 BXGD012063 Multiple basal cell papillomata C1275155 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012064 Subungual keratoacanthoma C1275192 disease C17 Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD012065 Mantleoma C1275208 disease Neoplastic Process T191 Neoplastic Process 3 BXGD012066 Sebaceoma C1275210 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012067 Paget's disease of vulva C1275217 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD012068 Fibroma of tendon sheath C1275236 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD012069 Storiform collagenoma C1275237 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD012070 Dermatomyofibroma C1275239 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012071 Familial Multiple Lipomatosis C1275273 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 3 BXGD012072 Spindle cell liposarcoma C1275275 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD012073 Soft tissue chondroma C1275277 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD012074 Extraskeletal Myxoid Chondrosarcoma C1275278 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 50 BXGD012075 Low-grade fibromyxoid sarcoma C1275282 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 10 BXGD012076 Lymphomatoid papulosis type A (CD-30 positive type) C1275293 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD012077 Poikilodermatous mycosis fungoides C1275298 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012078 Granulomatous mycosis fungoides C1275302 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD012079 Erythrodermic mycosis fungoides C1275303 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012080 Primary cutaneous marginal zone B-cell lymphoma C1275321 disease Neoplastic Process T191 Neoplastic Process 9 BXGD012081 Primary cutaneous diffuse large cell B-cell lymphoma C1275325 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD012082 Familial mastocytosis C1275345 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012083 Desmoplastic spindle and epithelioid cell melanocytic nevus of skin C1275419 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD012084 Extra-abdominal fibromatosis C1275420 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD012085 Lymphedema of lower extremity C1275454 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012086 Familial hypercholesterolemia due to genetic defect of apolipoprotein B C1275461 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012087 Tumor stage mycosis fungoides C1275465 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 8 BXGD012088 Funisitis (disorder) C1275592 disease C16;C13 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 12 BXGD012089 Acute myeloid leukemia with recurrent genetic abnormality C1275661 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD012090 Melanotic medulloblastoma C1275668 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 43 BXGD012091 Meibomian gland dysfunction C1275684 H02.88 disease C11;C17 Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome HP:0002715;HP:0000152;HP:0000478 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the eye T047 Disease or Syndrome 23 BXGD012092 Avellino corneal dystrophy C1275685 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 115 BXGD012093 Granulomatous rosacea C1275718 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012094 Congenital central hypoventilation C1275808 disease C23;C08;C10 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 29 BXGD012095 Transitional cell dysplasia C1275859 disease Neoplastic Process T191 Neoplastic Process 5 BXGD012096 Metaplastic squamous cell carcinoma C1275874 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD012097 Cellular neurothekeoma C1275959 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD012098 Sensory exotropia C1276000 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 1 BXGD012099 Bilateral superior oblique palsy C1276004 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012100 Pena-Shokeir syndrome type I C1276035 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0001197 Abnormality of prenatal development or birth DOID:630 genetic disease T047 Disease or Syndrome 40 BXGD012101 Acute non-ST segment elevation myocardial infarction (disorder) C1276061 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012102 Infantile atopic dermatitis C1276070 disease C16;C17;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012103 Childhood atopic dermatitis C1276071 disease C16;C17;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD012104 Adult atopic dermatitis C1276072 disease C16;C17;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD012105 Chronic hand eczema C1276092 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD012106 Sporadic porphyria cutanea tarda C1276127 disease C16;C06;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD012107 Cutaneous lymphoma C1276146 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 36 BXGD012108 Delayed adrenarche C1276238 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818;HP:0001507 Abnormality of the endocrine system; Growth abnormality T047 Disease or Syndrome 1 BXGD012109 Left ventricular systolic dysfunction C1277187 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 41 BXGD012110 Delayed myelination C1277241 phenotype F03 Mental Disorders Finding HP:0000707 Abnormality of the nervous system T033 Finding 112 BXGD012111 Pangastritis C1277259 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD012112 Cough with fever C1277295 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD012113 Transferrin saturation measurement C1277709 phenotype Laboratory Procedure T059 Laboratory Procedure 26 BXGD012114 Serum gamma-glutamyl transferase measurement C1278049 phenotype Laboratory Procedure T059 Laboratory Procedure 54 BXGD012115 Transient myocardial ischemia C1278536 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD012116 Postnatal infection C1278797 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD012117 Chlamydial urethritis C1278807 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD012118 Chronic leukemia (category) C1279296 C95.1 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 32 BXGD012119 Inflammatory abdominal aortic aneurysm C1279376 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD012120 Postoperative pneumonia C1279386 disease C23;C01;C08 Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD012121 periodic paralysis (finding) C1279412 G72.3 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 18 BXGD012122 Anxiety neurosis (finding) C1279420 F41.1 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 75 BXGD012123 X-Linked Combined Immunodeficiency Diseases C1279481 group C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 38 BXGD012124 Acute interstitial pneumonia C1279945 J84.114 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 88 BXGD012125 Lipoatrophy C1280433 disease C18;C17 Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome HP:0003549 Abnormality of connective tissue T047 Disease or Syndrome 106 BXGD012126 Podoconiosis C1280469 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD012127 Axenfeld syndrome C1280768 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012128 displaced uterus C1280777 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD012129 Von Willebrand disease, platelet type C1280798 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 8 BXGD012130 Vascular degeneration C1281300 I70 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD012131 Intercritical gout C1281373 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD012132 Familial obesity C1281440 disease C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD012133 Fatty acid measurement C1281901 group Laboratory Procedure T059 Laboratory Procedure 50 BXGD012134 Hemoglobin A measurement C1281911 phenotype Laboratory Procedure T059 Laboratory Procedure 6 BXGD012135 Corneal allograft rejection C1281914 disease Disease or Syndrome T047 Disease or Syndrome 21 BXGD012136 Obstruction of nasolacrimal duct C1281931 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 12 BXGD012137 Refractory heart failure C1281998 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012138 Choroidal neovascular membrane (disorder) C1282209 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD012139 Postoperative endophthalmitis C1282227 disease C23;C01;C11 Pathological Conditions, Signs and Symptoms; Infections; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD012140 Endogenous endophthalmitis C1282231 disease C01;C11 Infections; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012141 Adenoviral keratitis C1282239 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD012142 Sterile keratitis C1282241 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012143 Intermittent pain C1282310 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD012144 Ocular Cicatricial Pemphigoid C1282359 disease C11;C17 Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD012145 Mixed type cataract C1282365 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD012146 Primary acquired nasolacrimal duct obstruction C1282418 disease Acquired Abnormality T020 Acquired Abnormality 2 BXGD012147 Metastasis from malignant tumor of prostate C1282496 disease Neoplastic Process T191 Neoplastic Process 342 BXGD012148 Gastric Xanthoma C1282522 disease C06;C18 Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012149 Granulocytosis C1282609 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD012150 Penile swelling C1282799 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD012151 De Vaal's syndrome C1282908 disease C16;C18;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012152 Secondary Raynaud's phenomenon C1282916 I73.0 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD012153 Enthesitis C1282952 disease C17;C05;C10;C26 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Wounds and Injuries Disease or Syndrome HP:0003549 Abnormality of connective tissue T047 Disease or Syndrome 26 BXGD012154 von Willebrand Disease, Type 2A C1282968 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD012155 von Willebrand Disease, Type 2B C1282971 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 8 BXGD012156 von Willebrand disease type 2M C1282974 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD012157 von Willebrand Disease, Type 2N C1282975 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 10 BXGD012158 Transient hypoparathyroidism C1282979 disease C23;C19 Pathological Conditions, Signs and Symptoms; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD012159 ehrlichiosis chafeensis (diagnosis) C1282983 A77.41 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 8 BXGD012160 Iron binding capacity total measurement C1283048 phenotype Laboratory Procedure T059 Laboratory Procedure 20 BXGD012161 Postcapillary pulmonary hypertension C1283386 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD012162 Deficiency of acetylcholinesterase C1283397 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD012163 Butyrylcholinesterase deficiency C1283400 disease C23;C16;C18;C08 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012164 Deficiency of sulfatase C1283601 E75.26 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD012165 Sucrase-isomaltase deficiency, congenital C1283620 E74.31 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD012166 Deficiency of cathepsin C C1283723 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD012167 Degenerative disorder C1285162 group C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 160 BXGD012168 Autoimmune connective tissue disorder C1285175 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012169 Fetal Nutrition Disorders C1285261 disease C18;C13 Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 1 BXGD012170 Fetal ascites C1285291 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0025031;HP:0001197 Abnormality of the digestive system; Abnormality of prenatal development or birth T047 Disease or Syndrome 6 BXGD012171 Vegetation C1285498 disease Anatomical Abnormality T190 Anatomical Abnormality 67 BXGD012172 Memory performance C1285654 phenotype Mental Process T041 Mental Process 40 BXGD012173 Finding of liver enzyme levels C1287351 phenotype Laboratory or Test Result T034 Laboratory or Test Result 7 BXGD012174 Bilirubin level result C1287365 phenotype Laboratory or Test Result T034 Laboratory or Test Result 32 BXGD012175 Atrophoderma maculatum C1288283 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 39 BXGD012176 Subretinal membrane C1288350 disease Anatomical Abnormality T190 Anatomical Abnormality 3 BXGD012177 Chronic disease of skin C1290009 group C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD012178 Acute mucositis C1290073 disease C23;C06;C07 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012179 Post-streptococcal reactive arthritis C1290140 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD012180 Disorder of cervical spine C1290145 group C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012181 Disorder of smooth muscle C1290162 group C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD012182 Neoplasm of chest wall C1290309 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012183 Nonspecific interstitial pneumonia C1290344 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 28 BXGD012184 Acute disease of cardiovascular system C1290379 group C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD012185 Chronic heart disease C1290386 group C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD012186 Cerebral arterial aneurysm C1290398 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD012187 Abnormal number of teeth C1290508 phenotype C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 3 BXGD012188 Anodontia of Permanent Dentition C1290511 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T019 Congenital Abnormality 12 BXGD012189 Amelogenesis imperfecta pigmented hypomaturation type C1290537 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD012190 Failure of tooth eruption C1290587 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD012191 Hyperplastic tooth follicle C1290590 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD012192 Resorption of apex of tooth root C1290638 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD012193 Dentin bridge C1290645 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD012194 Osteomyelitis of mandible C1290708 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome HP:0002715;HP:0000152;HP:0000924 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the skeletal system T047 Disease or Syndrome 3 BXGD012195 Diarrheal disorder C1290807 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 32 BXGD012196 Disorder of skull C1290854 group C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD012197 Disorder of hand C1290871 group Disease or Syndrome T047 Disease or Syndrome 2 BXGD012198 Inflammatory disorder C1290884 group C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 391 BXGD012199 Acute inflammatory disease C1290885 group C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 2 BXGD012200 Chronic inflammatory disorder C1290886 group C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 74 BXGD012201 Abdominal bloating C1291077 R14.0 phenotype C06 Digestive System Diseases Sign or Symptom T184 Sign or Symptom 10 BXGD012202 Decreased reticulin C1291129 phenotype Anatomical Abnormality T190 Anatomical Abnormality 3 BXGD012203 Increased histidine C1291163 phenotype Finding T033 Finding 1 BXGD012204 3-Hydroxyacyl-CoA Dehydrogenase Deficiency C1291230 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD012205 Cortisone reductase deficiency C1291245 disease C23;C16;C18;C13;C17;C12;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD012206 Deficiency of iodide peroxidase (disorder) C1291299 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012207 Deficiency of dehydrogenase C1291311 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD012208 Deficiency of oxidase C1291312 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD012209 Deficiency of monooxygenase C1291314 disease Disease or Syndrome T047 Disease or Syndrome 17 BXGD012210 Deficiency of reductase C1291316 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD012211 Deficiency of transferase C1291317 group Disease or Syndrome T047 Disease or Syndrome 3 BXGD012212 Deficiency of phosphorylase kinase C1291390 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD012213 Deficiency of 3-oxoacid CoA-transferase C1291422 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012214 Deficiency of triacylglycerol lipase C1291447 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD012215 Deficiency of phosphoserine phosphatase C1291463 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD012216 Hyaluronidase Deficiency C1291490 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD012217 Deficiency of lyase C1291557 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD012218 Deficiency of glutamate decarboxylase C1291560 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD012219 Deficiency of aromatic-L-amino-acid decarboxylase C1291564 E70.81 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 7 BXGD012220 Deficiency of citrate(si)-synthase C1291575 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD012221 Deficiency of isomerase C1291601 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD012222 Deficiency of maleylacetoacetate isomerase C1291607 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD012223 Deficiency of mannose-6-phosphate isomerase C1291610 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD012224 Deficiency of glucose-6-phosphate isomerase C1291611 disease Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 2 BXGD012225 Deficiency of bisphosphoglycerate mutase C1291620 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD012226 Primary Effusion Lymphoma C1292753 C83.8 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 169 BXGD012227 Mediastinal (Thymic) Large B-Cell Lymphoma C1292754 C85.2 disease C04;C08;C20;C15 Neoplasms; Respiratory Tract Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 66 BXGD012228 Precursor B-cell lymphoblastic lymphoma C1292757 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD012229 Precursor T-cell lymphoblastic lymphoma C1292758 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 30 BXGD012230 Precursor B-cell lymphoblastic leukemia C1292769 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 478 BXGD012231 Chronic myelogenous leukemia, BCR/ABL positive C1292771 C92.1 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD012232 Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative C1292772 C92.20 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 32 BXGD012233 Acute myeloid leukemia with multilineage dysplasia C1292773 C92.A disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD012234 Acute myeloid leukemia, 11q23 abnormalities C1292775 C92.6 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 7 BXGD012235 Therapy-related acute myeloid leukemia and myelodysplastic syndrome C1292776 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 11 BXGD012236 Aggressive natural killer-cell leukemia C1292777 C94.8 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 30 BXGD012237 Chronic myeloproliferative disorder C1292778 D47.1 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 366 BXGD012238 Myelodysplastic Syndrome with Isolated del(5q) C1292779 D46.C disease C15 Hemic and Lymphatic Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 41 BXGD012239 Therapy-related myelodysplastic syndrome C1292780 disease C15 Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 42 BXGD012240 Leptin measurement C1295176 phenotype Laboratory Procedure T059 Laboratory Procedure 5 BXGD012241 Decreased vibratory sense C1295585 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 33 BXGD012242 Increased estradiol level C1295643 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 2 BXGD012243 Increased glucagon level C1295677 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 6 BXGD012244 Partial Trisomy C1297882 Q92.2 disease C23 Pathological Conditions, Signs and Symptoms Congenital Abnormality T019 Congenital Abnormality 29 BXGD012245 Radial scar C1297883 disease C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality T020 Acquired Abnormality 10 BXGD012246 Single tumor C1298180 phenotype Neoplastic Process T191 Neoplastic Process 63 BXGD012247 Occlusive stroke C1298680 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD012248 Oxalosis C1298681 E72.53 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 9 BXGD012249 Chronic pain syndrome C1298685 G89.4 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 10 BXGD012250 Cleft lip and alveolus C1298692 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality T019 Congenital Abnormality 4 BXGD012251 Hypoplasia of optic disc C1298695 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 31 BXGD012252 Aneurysm of aortic root C1298820 disease C14 Cardiovascular Diseases Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 39 BXGD012253 Endocervical Carcinoma C1299237 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 14 BXGD012254 Carcinoma of supraglottis C1299240 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD012255 Primary malignant neoplasm of ovary and other uterine adnexa C1299247 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD012256 Sarcoma - category (morphologic abnormality) C1299262 group Neoplastic Process T191 Neoplastic Process 1 BXGD012257 Multi vessel coronary artery disease C1299432 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD012258 Left main coronary artery disease C1299433 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD012259 Developmental failure of fusion C1299493 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 5 BXGD012260 Neonatal stroke C1299567 P91.82 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD012261 Early cirrhosis C1299579 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD012262 Non-insulin-dependent diabetes mellitus with unspecified complications C1299614 E11.8 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD012263 Postural Orthostatic Tachycardia Syndrome C1299624 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 25 BXGD012264 Glaucomatous visual field defect C1299694 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 3 BXGD012265 Eosinophilic myositis (disorder) C1299884 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD012266 laminitis C1299888 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD012267 Enteric coccidiosis C1299919 A07.3 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 4 BXGD012268 Perivascular Epithelioid Cell Neoplasms C1300127 group C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 31 BXGD012269 Villitis of unknown etiology C1300128 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD012270 Diaphyseal medullary stenosis with bone malignancy C1300202 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012271 Blomstrand dysplasia C1300206 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD012272 Thanatophoric dysplasia, type 1 C1300256 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012273 Thanatophoric dysplasia, type 2 C1300257 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD012274 Acroscyphodysplasia C1300261 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD012275 Brachydactyly syndrome type B C1300267 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012276 Brachydactyly syndrome type C C1300268 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD012277 Transient neonatal hyperparathyroidism C1300287 phenotype C23;C19 Pathological Conditions, Signs and Symptoms; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012278 Desmoplastic fibroblastoma C1300346 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD012279 Atypical polypoid adenomyoma C1300347 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 8 BXGD012280 Small cell carcinoma of prostate C1300585 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD012281 Acute and chronic colitis C1300682 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD012282 Pancreatic intraepithelial neoplasia C1301034 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 186 BXGD012283 Mast cell malignancy C1301145 disease C04;C17;C20;C15 Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD012284 Salivary duct carcinoma C1301194 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 54 BXGD012285 Gastrointestinal Crohn's disease C1301260 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012286 Extraovarian endometriosis C1301339 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 2 BXGD012287 Myelodysplastic-Myeloproliferative Diseases C1301355 group C15 Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 38 BXGD012288 Acute Leukemia of Ambiguous Lineage C1301357 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012289 Precursor T cell lymphoblastic leukemia/lymphoblastic lymphoma C1301359 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 20 BXGD012290 Post-transplant lymphoproliferative disorder, polymorphic C1301361 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 8 BXGD012291 Primary Cutaneous Anaplastic Large Cell Lymphoma C1301362 C86.6 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 24 BXGD012292 Blastic plasmacytoid dendritic cell neoplasm C1301363 C86.4 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 46 BXGD012293 Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease C1301365 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 4 BXGD012294 Severe visual impairment C1301509 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 35 BXGD012295 Hypertension with albuminuria C1301626 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD012296 Cardiovascular morbidity C1301700 phenotype Disease or Syndrome T047 Disease or Syndrome 75 BXGD012297 Neurological morbidity C1301721 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD012298 Respiratory morbidity C1301752 disease Disease or Syndrome T047 Disease or Syndrome 18 BXGD012299 Induced hypothermia (finding) C1301797 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 21 BXGD012300 Talipes C1301937 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064 Abnormality of limbs DOID:7 disease of anatomical entity T019 Congenital Abnormality 74 BXGD012301 Bulbar weakness C1301959 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T047 Disease or Syndrome 3 BXGD012302 Dysplasia of colon C1302363 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD012303 Adenoma of large intestine C1302401 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 452 BXGD012304 Plasma cell myeloma/plasmacytoma C1302424 disease C04;C20;C15;C14 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012305 Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma C1302547 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 42 BXGD012306 Polyp of small intestine C1302645 disease C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T190 Anatomical Abnormality 2 BXGD012307 Adenoma of rectum C1302652 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD012308 Retinal thickening C1302690 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD012309 Hamartoma of skin C1302724 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm T191 Neoplastic Process 1 BXGD012310 Melanocytic neoplasm C1302746 disease Neoplastic Process T191 Neoplastic Process 4 BXGD012311 Primary cutaneous lymphoma C1302772 disease C04;C17;C20;C15 Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 19 BXGD012312 Low Grade Squamous Intraepithelial Neoplasia C1302773 disease C23;C04;C13 Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 94 BXGD012313 Congenital malformation syndrome C1302790 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 57 BXGD012314 Cutaneous vascular malformation C1302793 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD012315 Myopericytoma C1302808 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD012316 Congenital Fibrosis of the Extraocular Muscles C1302995 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000152;HP:0003011 Abnormality of head or neck; Abnormality of the musculature T047 Disease or Syndrome 13 BXGD012317 Congenital euryblepharon C1303001 disease Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 9 BXGD012318 Epicanthus inversus C1303003 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 9 BXGD012319 Brushfield spots C1303007 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 14 BXGD012320 Microcoria, congenital C1303009 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 3 BXGD012321 Mydriasis, Congenital C1303010 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD012322 Nicolaides Baraitser syndrome C1303073 disease C23;C16;C17;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 18 BXGD012323 Acute ST segment elevation myocardial infarction (disorder) C1303258 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD012324 Brachioradial pruritus C1304055 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD012325 Chronic stable plaque psoriasis C1304119 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD012326 Onset of psoriasis in childhood (1-10 years) C1304136 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD012327 Familial psoriasis C1304140 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD012328 Retention hyperkeratosis C1304147 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD012329 Idiopathic angioedema C1304177 disease C17;C20;C14 Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD012330 Autoimmune urticaria C1304191 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD012331 Chronic autoimmune urticaria C1304193 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD012332 Cutaneous xanthoma C1304249 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD012333 Skin Nodular Basal Cell Carcinoma C1304300 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD012334 Metastatic basal cell carcinoma C1304306 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD012335 Eruptive melanocytic nevi C1304321 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012336 Occupational irritant contact dermatitis C1304345 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012337 Urticarial vasculitis C1304408 phenotype C17;C20;C14 Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD012338 Localized vitiligo C1304469 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD012339 Generalized vitiligo C1304470 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 43 BXGD012340 Microvenular hemangioma C1304506 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD012341 Spindle cell hemangioma C1304508 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 68 BXGD012342 Glomeruloid hemangioma C1304511 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0001626 Neoplasm; Abnormality of the cardiovascular system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012343 RDW - Red blood cell distribution width result C1304746 phenotype Laboratory or Test Result T034 Laboratory or Test Result 593 BXGD012344 Thoracoabdominal aortic aneurysm, ruptured C1305122 I71.5 disease C14;C26 Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD012345 Atypical adenoma C1305409 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD012346 Overbite C1305740 disease C07 Stomatognathic Diseases Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 13 BXGD012347 Diastolic blood pressure measurement C1305849 phenotype Diagnostic Procedure T060 Diagnostic Procedure 35 BXGD012348 Body mass index C1305855 phenotype Clinical Attribute T201 Clinical Attribute 1014 BXGD012349 Familial hematuria C1305904 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 23 BXGD012350 Eccrine dermal cylindroma C1305968 disease C16;C04;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm T191 Neoplastic Process 12 BXGD012351 Primary malignant neoplasm of appendix C1306050 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD012352 DEVELOPMENTAL DYSPLASIA OF THE HIP 1 C1306065 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD012353 Drug-induced paranoid state C1306067 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD012354 After-cataract C1306068 H26.4 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 22 BXGD012355 Oguchi disease C1306122 H53.63 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD012356 ACTH-Secreting Pituitary Adenoma C1306214 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 67 BXGD012357 Dyschromatosis universalis C1306229 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD012358 Aggressive angiomyxoma C1306242 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 9 BXGD012359 Melanotic neurilemmoma C1306247 disease C04;C10;C09 Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD012360 Mental handicap C1306341 F79 disease Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 26 BXGD012361 Primary malignant neoplasm C1306459 group C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 8221 BXGD012362 Primary malignant neoplasm of lung C1306460 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 3894 BXGD012363 Congenital exomphalos C1306503 Q79.2 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T019 Congenital Abnormality 235 BXGD012364 Chronic venous insufficiency C1306557 I87.2 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 25 BXGD012365 Hepatic Insufficiency C1306571 phenotype C06 Digestive System Diseases Pathologic Function T046 Pathologic Function 13 BXGD012366 Botryoid-Type Embryonal Rhabdomyosarcoma C1306573 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD012367 Botryoid rhabdomyosarcoma C1306574 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD012368 Acute encephalopathy C1306587 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 31 BXGD012369 Congenital dyserythropoietic anemia, type II C1306589 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 21 BXGD012370 Radial nerve palsy C1306600 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD012371 Systolic blood pressure measurement C1306620 phenotype Diagnostic Procedure T060 Diagnostic Procedure 54 BXGD012372 Facial asymmetry C1306710 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0000152 Abnormality of head or neck T033 Finding 109 BXGD012373 Congenital naevus C1306726 disease Neoplastic Process T191 Neoplastic Process 5 BXGD012374 Eosinophilic disorder C1306759 group C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 288 BXGD012375 Aortoiliac occlusive disease C1306762 disease Disease or Syndrome T047 Disease or Syndrome 17 BXGD012376 Red man syndrome C1306792 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD012377 Papillary Renal Cell Carcinoma C1306837 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 223 BXGD012378 Megaloblastic anemia due to inborn errors of metabolism C1306856 D51.0 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 3 BXGD012379 Climacteric discomfort C1306878 phenotype Sign or Symptom T184 Sign or Symptom 4 BXGD012380 Peripheral arterial occlusive disease C1306889 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 35 BXGD012381 Anomaly of placenta C1306893 O43.10 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Pathologic Function HP:0001197 Abnormality of prenatal development or birth T046 Pathologic Function 5 BXGD012382 Hereditary edema of legs C1313885 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD012383 Respiration intermittent C1313952 R06.3 phenotype Sign or Symptom HP:0002086 Abnormality of the respiratory system T184 Sign or Symptom 6 BXGD012384 Dental cyst C1313977 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD012385 Acute contagious conjunctivitis C1313983 disease C23;C01;C11 Pathological Conditions, Signs and Symptoms; Infections; Eye Diseases Disease or Syndrome HP:0002715;HP:0000152;HP:0000478;HP:0001626 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD012386 Serum alkaline phosphatase raised C1314665 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 67 BXGD012387 Ameloblastic Carcinoma C1314678 disease Neoplastic Process T191 Neoplastic Process 6 BXGD012388 Age at menarche C1314691 phenotype F01 Behavior and Behavior Mechanisms Finding T033 Finding 267 BXGD012389 Astrocytoma, low grade C1314694 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 34 BXGD012390 Steatocystomas C1314743 disease C04 Neoplasms Acquired Abnormality T020 Acquired Abnormality 3 BXGD012391 Stromal keratitis C1318020 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD012392 Serum iron measurement C1318312 phenotype Laboratory Procedure T059 Laboratory Procedure 17 BXGD012393 Serum zinc measurement C1318315 phenotype Laboratory Procedure T059 Laboratory Procedure 6 BXGD012394 Liver regeneration disorder C1318485 phenotype C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 346 BXGD012395 Non-toxic nodular goiter C1318500 E04.9 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD012396 Infantile malignant osteopetrosis C1318518 disease C05 Musculoskeletal Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 13 BXGD012397 Necrotizing vasculitis C1318520 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD012398 Secondary polycythemia C1318533 D75.1 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 25 BXGD012399 Sertoli-Leydig cell tumor of intermediate differentiation C1318541 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD012400 Fibrous histiocytoma of tendon sheath C1318543 disease C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD012401 M5b Acute differentiated monocytic leukemia C1318544 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 122 BXGD012402 Refractory anemia with excess blasts I C1318550 D46.21 disease C15 Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD012403 Congenital melanocytic nevus C1318558 disease C16;C04;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 7 BXGD012404 Infantile digital fibromatosis C1318562 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm T191 Neoplastic Process 1 BXGD012405 Herpes simplex type 1 infection C1318711 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD012406 Vancomycin intermediate staphylococcus aureus infection C1318881 disease Disease or Syndrome T047 Disease or Syndrome 16 BXGD012407 Staphylococcus aureus infection C1318973 A49.01 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 49 BXGD012408 Nephrogenic rest, intralobar C1319016 disease Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 1 BXGD012409 Asthmatic bronchitis C1319018 J45.90 disease C01;C08;C20 Infections; Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD012410 Corticosteroid induced cataract C1319183 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD012411 Infection due to vancomycin resistant Staphylococcus aureus C1319193 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD012412 Pediatric human immunodeficiency virus infection C1319296 disease C01;C20 Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD012413 Nephroblastoma, favorable histology C1319300 disease C16;C04;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD012414 Transitional cell carcinoma of kidney C1319314 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm T191 Neoplastic Process 1 BXGD012415 Adenocarcinoma of large intestine C1319315 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 543 BXGD012416 Squamous cell carcinoma of pharynx C1319317 disease C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process T191 Neoplastic Process 14 BXGD012417 Barber Say syndrome C1319466 disease C23;C16;C11;C17;C05;C07 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 21 BXGD012418 Asthma, Aspirin-Induced C1319853 disease C08;C20;C25 Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome HP:0002715;HP:0002086 Abnormality of the immune system; Abnormality of the respiratory system T047 Disease or Syndrome 25 BXGD012419 Sendai virus infection C1319860 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 25 BXGD012420 Invasive Group A beta-hemolytic streptococcal disease C1320211 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD012421 Invasive Streptococcus pneumoniae disease C1320214 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 55 BXGD012422 Cervical Squamous Cell Carcinoma In Situ C1320453 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 10 BXGD012423 Nephrogenic rest C1320468 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 15 BXGD012424 Mesoblastic nephroma, cellular C1320471 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD012425 Nuchal Rigidity C1320474 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 6 BXGD012426 Bone marrow myeloid dysplasia C1320638 disease C15 Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 9 BXGD012427 Peripheral retinal degeneration C1320640 H35.4 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD012428 Non-specific colitis C1321275 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012429 Elliptical nystagmus C1321325 phenotype C11;C10 Eye Diseases; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD012430 Slowed saccades C1321329 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 29 BXGD012431 Monoblastic leukemia C1321422 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 14 BXGD012432 Epithelioid Malignant Peripheral Nerve Sheath Tumor C1321427 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012433 Torre-Muir syndrome C1321489 disease C16;C04;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 8 BXGD012434 Anaplastic large B-cell lymphoma C1321546 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 17 BXGD012435 T-cell/histiocyte rich large B-cell lymphoma C1321547 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 28 BXGD012436 Shprintzen-Goldberg syndrome C1321551 disease C16;C17;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 61 BXGD012437 Ocular ischemic syndrome C1321558 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012438 Trichobezoar disorder C1321580 disease C26 Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 1 BXGD012439 Breathing abnormally deep C1321587 phenotype C08 Respiratory Tract Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD012440 Achalasia C1321756 K22.0 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 40 BXGD012441 Histiocytic leukemia C1321757 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012442 HYPOTHYROIDISM, GOITROUS C1321809 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD012443 Juvenile astrocytoma C1321865 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 17 BXGD012444 Pediatric Intraocular Retinoblastoma C1321869 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD012445 childhood acute myeloid leukemia/other myeloid malignancies C1321871 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD012446 Stage IV Skin Melanoma C1321872 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 45 BXGD012447 Desmoplastic infantile ganglioglioma C1321878 disease Neoplastic Process T191 Neoplastic Process 5 BXGD012448 Atresia of vagina C1321884 disease Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 16 BXGD012449 Blood in stool C1321898 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Sign or Symptom HP:0025031 Abnormality of the digestive system T184 Sign or Symptom 13 BXGD012450 Minimal Brain Dysfunction C1321905 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 22 BXGD012451 Congenital absence of parathyroid gland C1321907 disease C16;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality HP:0000818 Abnormality of the endocrine system DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 4 BXGD012452 Chordoid Glioma of the Third Ventricle C1322252 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012453 Seasonal rhinitis C1322281 disease C08;C20;C09 Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD012454 sympathomimetic disorder C1323099 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD012455 fibrinogen activity C1325327 phenotype Molecular Function T044 Molecular Function 26 BXGD012456 Congenital amegakaryocytic thrombocytopenia C1327915 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 7 BXGD012457 Childhood Chronic Myelogenous Leukemia, BCR-ABL1 Positive C1327920 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 12 BXGD012458 type B thymoma C1328042 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012459 Myelodysplastic/myeloproliferative neoplasm, unclassifiable C1328061 disease C15 Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012460 Mucocutaneous leishmaniasis C1328252 B55.2 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 37 BXGD012461 Ankle brachial pressure index (observable entity) C1328319 phenotype Clinical Attribute T201 Clinical Attribute 7 BXGD012462 Mitochondrial hepatopathy C1328348 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD012463 Neuropathy ataxia and retinis pigmentosa C1328349 disease C16;C18;C11;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 7 BXGD012464 Metastatic glioma C1328402 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD012465 Hip Dysplasia C1328407 disease C05;C26 Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 128 BXGD012466 Abnormality of amino acid metabolism C1328440 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 8 BXGD012467 Pancreatic Endocrine Carcinoma C1328479 C25.4 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 29 BXGD012468 Intraoperative hypertension C1328500 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD012469 Hormone refractory prostate cancer C1328504 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 683 BXGD012470 Tubular breast carcinoma C1328544 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012471 Autologous graft versus host disease C1328550 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD012472 Empty follicle syndrome C1328577 disease Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 14 BXGD012473 Panhypogammaglobulinemia C1328587 phenotype Finding HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T033 Finding 20 BXGD012474 Autoimmune Lymphoproliferative Syndrome C1328840 D89.82 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 65 BXGD012475 Autoimmune vasculitis C1328843 disease C20;C14 Immune System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD012476 Multiple Lentigines/LEOPARD syndrome C1328928 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD012477 Multiple lentigines C1328931 disease Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 13 BXGD012478 Developmental Academic Disorder C1330966 F81.9 phenotype C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Finding DOID:150 disease of mental health T033 Finding 29 BXGD012479 Aortic sclerosis C1331537 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD012480 Thymic Dysplasia C1331541 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD012481 Infection by Ascaris lumbricoides C1331548 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD012482 AIDS-Related Diffuse Large B-cell Lymphoma C1332042 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012483 AIDS-Related Non-Hodgkin Lymphoma C1332051 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 15 BXGD012484 AIDS-Related Primary Effusion Lymphoma C1332059 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012485 Anaplastic large cell lymphoma, ALK negative C1332078 C84.7 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 28 BXGD012486 Anaplastic Large Cell Lymphoma, ALK-Positive C1332079 C84.6 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 25 BXGD012487 Lung Acinar Adenocarcinoma C1332137 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD012488 Prostate Acinar Adenocarcinoma C1332139 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD012489 Acrofacial Dysostosis C1332140 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD012490 acute myeloid leukemia with multilineage dysplasia following myelodysplastic syndrome C1332153 disease Neoplastic Process T191 Neoplastic Process 49 BXGD012491 Acute myelomonocytic leukemia with abnormal eosinophils C1332156 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD012492 Acute Thymic Involution C1332162 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD012493 Adenocarcinoma of the gastroesophageal junction C1332166 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 32 BXGD012494 Adenoid cystic breast carcinoma C1332167 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD012495 Adult Anaplastic Large Cell Lymphoma C1332182 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 128 BXGD012496 Adult Astrocytic Tumor C1332183 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 19 BXGD012497 Adult Atypical Meningioma C1332184 disease Neoplastic Process T191 Neoplastic Process 9 BXGD012498 Adult Brain Glioblastoma C1332187 disease Neoplastic Process T191 Neoplastic Process 4 BXGD012499 Adult Clear Cell Sarcoma of Soft Parts C1332198 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 10 BXGD012500 Adult Desmoplastic Small Round Cell Tumor C1332199 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 32 BXGD012501 Adult Diffuse Astrocytoma C1332200 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 21 BXGD012502 Adult Diffuse Large B-Cell Lymphoma C1332201 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 504 BXGD012503 Adult Lymphocyte-Rich Classical Hodgkin Lymphoma C1332205 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012504 Adult Lymphoma C1332206 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1169 BXGD012505 Adult Nodular Lymphocyte Predominant Hodgkin Lymphoma C1332210 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 17 BXGD012506 Adult B Lymphoblastic Lymphoma C1332212 disease Neoplastic Process T191 Neoplastic Process 12 BXGD012507 Adult T Lymphoblastic Lymphoma C1332213 disease Neoplastic Process T191 Neoplastic Process 21 BXGD012508 Adult Primary Cutaneous Anaplastic Large Cell Lymphoma C1332214 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 12 BXGD012509 Adult Spinal Cord Ependymoma C1332215 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD012510 Adult Systemic Anaplastic Large Cell Lymphoma C1332216 disease Neoplastic Process T191 Neoplastic Process 12 BXGD012511 Adult Type Ovarian Granulosa Cell Tumor C1332218 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 10 BXGD012512 Adult Kidney Wilms Tumor C1332219 disease C16;C04;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD012513 Adult Xanthogranuloma C1332220 disease Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 4 BXGD012514 Adult Yolk Sac Tumor C1332221 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 35 BXGD012515 Aggressive Non-Hodgkin Lymphoma C1332225 disease Neoplastic Process T191 Neoplastic Process 57 BXGD012516 Adenocarcinoma of ampulla of Vater C1332243 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 15 BXGD012517 Adenocarcinoma of anal canal C1332259 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012518 Anal canal squamous cell carcinoma C1332262 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012519 Perianal Squamous Intraepithelial Neoplasia C1332271 disease Neoplastic Process T191 Neoplastic Process 52 BXGD012520 Castleman Disease, Hyaline-Vascular Type C1332293 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD012521 Anti-Basement Membrane Glomerulonephritis C1332309 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 39 BXGD012522 Aortic Angiosarcoma C1332312 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012523 Breast Apocrine Adenosis C1332314 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 1 BXGD012524 Apocrine breast carcinoma C1332316 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012525 Asbestos-Related Lung Carcinoma C1332337 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012526 Atypical Adenomatous Lung Hyperplasia C1332345 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD012527 Atypical Ductal Breast Hyperplasia C1332347 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 80 BXGD012528 Atypical Small Acinar Proliferation of the Prostate Gland C1332353 N42.32 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD012529 Autoimmune Hepatitis with Centrilobular Necrosis C1332355 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD012530 Barrett's Adenocarcinoma C1332460 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 31 BXGD012531 Bilateral Carcinoma C1332549 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD012532 Biphasic Pulmonary Blastoma C1332556 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012533 Bladder Paraganglioma C1332562 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 8 BXGD012534 Small cell neuroendocrine carcinoma of bladder C1332564 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012535 Blastoid Variant Mantle Cell Lymphoma C1332569 disease Neoplastic Process T191 Neoplastic Process 2 BXGD012536 Bone Epithelioid Hemangioma C1332575 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012537 Haemangioma of bone C1332578 disease C04;C14 Neoplasms; Cardiovascular Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD012538 Brain Stem Glioblastoma C1332610 disease Neoplastic Process T191 Neoplastic Process 2 BXGD012539 Angiosarcoma of the breast C1332614 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012540 Breast Fibrocystic Change, Proliferative Type C1332629 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 14 BXGD012541 Breast Liposarcoma C1332632 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012542 Breast Mucosa-Associated Lymphoid Tissue Lymphoma C1332633 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD012543 Breast Small Cell Carcinoma C1332638 disease Neoplastic Process T191 Neoplastic Process 3 BXGD012544 Complement component 3 deficiency C1332655 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD012545 Calcifying Fibrous Pseudotumor C1332833 disease Neoplastic Process T191 Neoplastic Process 5 BXGD012546 Cardiac Epithelioid Hemangioendothelioma C1332846 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD012547 Cardiac rhabdomyoma C1332852 disease C04;C14 Neoplasms; Cardiovascular Diseases Neoplastic Process HP:0002664;HP:0001626;HP:0003011 Neoplasm; Abnormality of the cardiovascular system; Abnormality of the musculature T191 Neoplastic Process 6 BXGD012548 Adenocarcinoma of cecum C1332866 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012549 Central nervous system leukaemia C1332884 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 17 BXGD012550 Central nervous system melanoma C1332888 disease Neoplastic Process T191 Neoplastic Process 2 BXGD012551 Cerebellar Glioblastoma C1332899 disease Neoplastic Process T191 Neoplastic Process 6 BXGD012552 Cerebellar hemangioblastoma C1332900 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD012553 Cervical Clear Cell Adenocarcinoma C1332912 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD012554 Cervical Endometrioid Adenocarcinoma C1332913 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012555 Cervical Mucinous Adenocarcinoma C1332919 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012556 Cervical Squamous Intraepithelial Neoplasia C1332922 disease C23;C04;C13 Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 109 BXGD012557 Childhood Acute Erythroid Leukemia C1332937 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 8 BXGD012558 Childhood Anaplastic Large Cell Lymphoma C1332942 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 130 BXGD012559 Childhood Anaplastic Oligodendroglioma C1332943 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 29 BXGD012560 Childhood Botryoid-Type Embryonal Rhabdomyosarcoma C1332944 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012561 Childhood Brain Meningioma C1332949 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012562 Childhood Brain Stem Neoplasm C1332951 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012563 Childhood Cerebellar Neoplasm C1332959 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012564 Childhood Clear Cell Sarcoma of Soft Parts C1332964 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 10 BXGD012565 Congenital Mesoblastic Nephroma C1332965 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664;HP:0003549 Abnormality of the genitourinary system; Neoplasm; Abnormality of connective tissue DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 42 BXGD012566 Childhood Desmoplastic Small Round Cell Tumor C1332966 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 32 BXGD012567 Childhood Ganglioglioma C1332969 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 38 BXGD012568 Childhood Hematopoietic Neoplasm C1332970 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 8 BXGD012569 Childhood Leukemia C1332977 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1740 BXGD012570 Childhood Lymphocyte-Rich Classic Hodgkin Lymphoma C1332978 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012571 Childhood Lymphoma C1332979 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1171 BXGD012572 Childhood Mesenchymal Chondrosarcoma C1332982 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD012573 Childhood Nodular Lymphocyte Predominant Hodgkin Lymphoma C1332985 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 17 BXGD012574 Childhood Osteosarcoma C1332986 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2208 BXGD012575 Childhood Pilocytic Astrocytoma C1332995 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 97 BXGD012576 Childhood B Lymphoblastic Lymphoma C1332996 disease Neoplastic Process T191 Neoplastic Process 12 BXGD012577 Childhood T Lymphoblastic Lymphoma C1332998 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 21 BXGD012578 Childhood Renal Cell Carcinoma C1333001 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 107 BXGD012579 Childhood Kidney Neoplasm C1333003 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD012580 Childhood Supratentorial Neoplasm C1333004 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012581 Childhood Kidney Wilms Tumor C1333015 disease C16;C04;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 338 BXGD012582 Chronic Cancer Pain C1333034 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 4 BXGD012583 Chronic Myelomonocytic Leukemia-1 C1333043 C93.1 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD012584 Chronic Myelomonocytic Leukemia-2 C1333044 C93.1 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012585 Myeloproliferative Neoplasm, Unclassifiable C1333046 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD012586 Classical Burkitt Lymphoma C1333063 disease C04;C01;C20;C15 Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012587 Classical Hodgkin's Lymphoma C1333064 C81.7 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 285 BXGD012588 Lung Clear Cell Tumor C1333065 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD012589 Clear Cell Hepatocellular Carcinoma C1333067 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012590 Thymic Clear Cell Carcinoma C1333069 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012591 Chordoma of clivus C1333071 disease C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD012592 Colloid Carcinoma of the Pancreas C1333081 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012593 Colon Neuroendocrine Tumor G1 C1333084 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012594 Colon Carcinoma Metastatic in the Liver C1333085 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012595 Colon Mucosa-Associated Lymphoid Tissue Lymphoma C1333096 disease Neoplastic Process T191 Neoplastic Process 2 BXGD012596 Colorectal High Grade Intraepithelial Neoplasia C1333110 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012597 Colorectal Intraepithelial Neoplasia C1333112 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD012598 Colorectal Traditional Serrated Adenoma C1333116 disease Neoplastic Process T191 Neoplastic Process 14 BXGD012599 Colorectal Tubular Adenoma C1333117 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012600 Colorectal Villous Adenoma C1333119 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD012601 combined type small cell lung cancer C1333125 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD012602 Conjunctival intraepithelial neoplasia C1333148 disease C23;C04;C13;C11 Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012603 Primary Cutaneous Follicle Center Lymphoma C1333171 disease Neoplastic Process T191 Neoplastic Process 19 BXGD012604 Cutaneous Follicular Lymphoma C1333172 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD012605 Lymphoproliferative Disorder of the Skin C1333177 disease C17;C20;C15 Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 75 BXGD012606 Cystic Neoplasm C1333190 disease Neoplastic Process T191 Neoplastic Process 7 BXGD012607 Deep Penetrating Nevus C1333268 disease Neoplastic Process T191 Neoplastic Process 2 BXGD012608 Dermal Fibroma C1333275 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD012609 Desmoplastic melanoma C1333280 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 20 BXGD012610 Diencephalic Neoplasm C1333286 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012611 Diffuse follicle center lymphoma C1333290 C82.5 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012612 Diffuse infiltrative lymphocytosis syndrome C1333292 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 5 BXGD012613 ALK positive large B-cell lymphoma C1333294 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD012614 Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type C1333295 disease Neoplastic Process T191 Neoplastic Process 18 BXGD012615 Activated B-cell type diffuse large B-cell lymphoma C1333296 disease Neoplastic Process T191 Neoplastic Process 39 BXGD012616 Type C Lymphomatoid Papulosis C1333297 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD012617 Distal Bile Duct Carcinoma C1333308 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012618 Barretts esophagus with dysplasia C1333324 K22.71 disease C06;C04 Digestive System Diseases; Neoplasms Disease or Syndrome T047 Disease or Syndrome 9 BXGD012619 Ectopic thymus C1333375 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD012620 Central Nervous System Embryonal Neoplasm C1333378 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD012621 Encapsulated Thymoma C1333383 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD012622 Endometrial intraepithelial neoplasia C1333394 N85.02 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 15 BXGD012623 Endometrial Squamous Cell Carcinoma C1333396 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012624 Liver and Intrahepatic Bile Duct Epithelial Neoplasm C1333419 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD012625 epithelioid cell intraocular melanoma C1333422 disease C04;C11 Neoplasms; Eye Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012626 EBV-Related Hodgkin Lymphoma C1333430 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD012627 EBV-Related Lymphoma C1333431 disease Neoplastic Process T191 Neoplastic Process 5 BXGD012628 Esophageal Basaloid Carcinoma C1333443 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD012629 Esophageal Liposarcoma C1333456 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012630 Esophageal Melanoma C1333460 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012631 Esophageal Squamous Intraepithelial Neoplasia C1333468 disease C23;C04;C13 Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 6 BXGD012632 Ethmoid Sinus Adenocarcinoma C1333472 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012633 Exaggerated placental site C1333482 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 1 BXGD012634 Extragastrointestinal Gastrointestinal Stromal Tumor C1333500 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 12 BXGD012635 Fallopian Tube Adenocarcinoma C1333590 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012636 Hereditary Malignant Neoplasm C1333600 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 63 BXGD012637 Flat Ductal Epithelial Atypia of the Breast C1333620 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD012638 Gallbladder Melanoma C1333749 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012639 Gastric Cardia Adenocarcinoma C1333762 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 65 BXGD012640 Gastric Cardia Carcinoma C1333763 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 24 BXGD012641 Gastric Gastrointestinal Stromal Tumor C1333768 C49.A2 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 11 BXGD012642 Gastric Inflammatory Myofibroblastic Tumor C1333774 disease C23 Pathological Conditions, Signs and Symptoms Neoplastic Process T191 Neoplastic Process 3 BXGD012643 Gastric Mucosa-Associated Lymphoid Tissue Lymphoma C1333782 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 46 BXGD012644 Gastric Precancerous Condition C1333786 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012645 Tubular adenocarcinoma gastric C1333791 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD012646 Digestive System Non-Hodgkin Lymphoma C1333800 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD012647 Gastrointestinal Stromal Tumor of the Gastrointestinal Tract C1333802 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD012648 Central Nervous System Germinoma C1333813 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD012649 Glomus Tumor of Uncertain Malignant Potential C1333826 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD012650 Grade 3 Invasive Breast Carcinoma C1333843 disease Neoplastic Process T191 Neoplastic Process 3 BXGD012651 Grade 3 Colon Adenocarcinoma C1333855 disease Neoplastic Process T191 Neoplastic Process 3 BXGD012652 Grade 3 Colorectal Adenocarcinoma C1333856 disease Neoplastic Process T191 Neoplastic Process 4 BXGD012653 Grade 1 Colon Adenocarcinoma C1333866 disease Neoplastic Process T191 Neoplastic Process 2 BXGD012654 Pancreatic Intraepithelial Neoplasia-1 C1333869 disease Neoplastic Process T191 Neoplastic Process 8 BXGD012655 B-cell lymphoma unclassifiable with features intermediate between classical Hodgkin lymphoma and diffuse large B-cell lymphoma C1333878 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD012656 Head and Neck Basaloid Carcinoma C1333940 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD012657 Paraganglioma of head and neck C1333944 disease C04 Neoplasms Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 19 BXGD012658 central nervous system hemangioblastoma C1333955 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012659 Carcinoid tumour of the liver C1333963 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD012660 Liver Dysplastic Nodule C1333964 disease Disease or Syndrome T047 Disease or Syndrome 15 BXGD012661 Inflammatory pseudotumor of liver C1333967 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 2 BXGD012662 Liver and Intrahepatic Bile Duct Neoplasm C1333976 disease C06 Digestive System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD012663 Hepatitis B Virus-Related Hepatocellular Carcinoma C1333977 disease Neoplastic Process T191 Neoplastic Process 76 BXGD012664 Hepatitis C Virus-Related Hepatocellular Carcinoma C1333978 disease Neoplastic Process T191 Neoplastic Process 18 BXGD012665 Hepatitis Virus-Related Hepatocellular Carcinoma C1333979 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD012666 Hepatosplenic T-cell lymphoma C1333984 C86.1 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 13 BXGD012667 Hereditary clear cell renal cell carcinoma C1333985 disease C16;C04;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD012668 Hereditary Glomangioma C1333987 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012669 Familial meningioma C1333989 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD012670 Hereditary Nonpolyposis Colorectal Cancer C1333990 disease C16;C06;C04;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 174 BXGD012671 Hereditary Non-Polyposis Colon Cancer Type 2 C1333991 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 23 BXGD012672 Hereditary Ovarian Carcinoma C1333992 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 14 BXGD012673 hereditary paraganglioma C1333993 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process T191 Neoplastic Process 15 BXGD012674 Barretts esophagus with high grade dysplasia C1334003 K22.711 disease C06;C04 Digestive System Diseases; Neoplasms Disease or Syndrome T047 Disease or Syndrome 12 BXGD012675 High Grade Sarcoma C1334008 disease Neoplastic Process T191 Neoplastic Process 9 BXGD012676 High Grade Cervical Intraepithelial Neoplasia C1334011 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 51 BXGD012677 High Grade Intraepithelial Neoplasia C1334015 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 38 BXGD012678 Histiocytic and Dendritic Cell Neoplasm C1334030 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD012679 Human Papillomavirus-Related Esophageal Squamous Cell Carcinoma C1334054 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD012680 Human Papillomavirus-Related Squamous Cell Carcinoma C1334057 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD012681 Hypercellular bone marrow C1334068 phenotype Finding T033 Finding 1 BXGD012682 Hyperimmunoglobulin Syndrome C1334069 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD012683 Indolent Non-Hodgkin Lymphoma C1334170 disease Neoplastic Process T191 Neoplastic Process 27 BXGD012684 Infiltrating Cervical Carcinoma C1334177 disease Neoplastic Process T191 Neoplastic Process 76 BXGD012685 Intermediate Grade Ductal Breast Carcinoma In Situ C1334206 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD012686 Intermediate Risk Gastrointestinal Stromal Tumor C1334222 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012687 Intestinal Graft Versus Host Disease C1334228 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD012688 Intracranial Germinoma C1334240 disease Neoplastic Process T191 Neoplastic Process 6 BXGD012689 Intracranial Melanoma C1334243 disease Neoplastic Process T191 Neoplastic Process 4 BXGD012690 Intramuscular Myxoma C1334260 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm T191 Neoplastic Process 9 BXGD012691 Intraorbital Meningioma C1334261 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD012692 Intraurothelial Neoplasia C1334266 disease Neoplastic Process T191 Neoplastic Process 3 BXGD012693 Intraventricular Meningioma C1334271 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 16 BXGD012694 Invasive Apocrine Breast Carcinoma C1334272 disease Neoplastic Process T191 Neoplastic Process 2 BXGD012695 Invasive Carcinoma C1334274 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 173 BXGD012696 Invasive Ductal and Lobular Carcinoma C1334277 disease Neoplastic Process T191 Neoplastic Process 2 BXGD012697 Infiltrating Bladder Urothelial Carcinoma C1334281 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD012698 Inverted urothelial papilloma C1334282 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012699 Lung Large Cell Neuroendocrine Carcinoma C1334363 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD012700 Laryngeal Sarcoma C1334377 disease C04;C08;C09 Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012701 Laryngeal Small Cell Carcinoma C1334378 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012702 Meningeal melanoma C1334386 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 23 BXGD012703 Lipomatous hemangiopericytoma C1334402 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD012704 Localized Carcinoma C1334407 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD012705 Localized Primitive Neuroectodermal Tumor C1334410 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD012706 Locally Metastatic Malignant Neoplasm C1334411 disease Neoplastic Process T191 Neoplastic Process 8 BXGD012707 Low Grade Ductal Breast Carcinoma In Situ C1334413 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD012708 Barretts esophagus with low grade dysplasia C1334414 K22.710 disease C06;C04 Digestive System Diseases; Neoplasms Disease or Syndrome T047 Disease or Syndrome 4 BXGD012709 Low Grade Malignant Neoplasm C1334425 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012710 adenoid cystic carcinoma of lung C1334439 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012711 Pulmonary Sclerosing Hemangioma C1334455 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 33 BXGD012712 Salivary Gland Lymphoepithelial Carcinoma C1334461 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012713 Major Salivary Gland Carcinoma C1334549 disease Neoplastic Process T191 Neoplastic Process 2 BXGD012714 Malignant Childhood Central Nervous System Neoplasm C1334573 disease Neoplastic Process T191 Neoplastic Process 3 BXGD012715 Malignant Mixed Mesodermal (Mullerian) Tumor C1334603 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 12 BXGD012716 Malignant Ovarian Sex Cord-Stromal Tumor C1334609 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012717 Malignant Phyllodes Tumor of Prostate C1334615 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD012718 Malignant Smooth Muscle Neoplasm C1334620 disease C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD012719 Intraductal Proliferative Lesion of the Breast C1334631 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012720 Mature B-Cell Neoplasm C1334633 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD012721 Mature B-Cell Non-Hodgkin Lymphoma C1334634 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 20 BXGD012722 Maxillary Sinus Squamous Cell Carcinoma C1334647 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 24 BXGD012723 Mediastinal Germ Cell Tumor C1334655 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 8 BXGD012724 Mediastinal B-Cell Lymphoma, Unclassifiable, with Features Intermediate between Diffuse Large B-Cell Lymphoma and Classic Hodgkin Lymphoma C1334657 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD012725 Mediastinal Lymphangioma C1334664 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD012726 Mediastinal Lymphoma C1334665 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD012727 Megakaryocytic Neoplasm C1334687 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012728 Megaloblastic erythroid hyperplasia C1334688 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 3 BXGD012729 Melanomatosis C1334691 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 1 BXGD012730 Meningeal Gliomatosis C1334695 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012731 Mesenchymal Cell Neoplasm C1334699 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 55 BXGD012732 Metaplastic carcinoma of breast C1334708 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 31 BXGD012733 Metastatic Malignant Peripheral Nerve Sheath Tumor C1334720 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012734 Breast Microglandular Adenosis C1334753 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD012735 Minor Salivary Gland Adenocarcinoma C1334768 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012736 Minor Salivary Gland Carcinoma C1334771 disease Neoplastic Process T191 Neoplastic Process 2 BXGD012737 Mixed Cell Type Gastrointestinal Stromal Tumor C1334781 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD012738 Monomorphic Post-Transplant Lymphoproliferative Disorder C1334798 disease Neoplastic Process T191 Neoplastic Process 4 BXGD012739 Monophasic Synovial Sarcoma C1334801 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD012740 Motor Manifestations C1334804 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 5 BXGD012741 Mucinous carcinoma of breast C1334807 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD012742 Mucinous neoplasm C1334811 disease Neoplastic Process HP:0002664 Neoplasm T191 Neoplastic Process 9 BXGD012743 Multi-centric Castleman's Disease C1334815 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 29 BXGD012744 Multifocal osteosarcoma C1334820 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012745 Adenocarcinoma of the nasal cavity C1334920 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD012746 Neuroblastic tumors C1334953 disease C04 Neoplasms Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 73 BXGD012747 Neoplasm of the posterior pituitary C1334957 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD012748 Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma C1334963 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD012749 Nodular Lymphocyte Predominant Hodgkin Lymphoma C1334968 C81.0 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 51 BXGD012750 Medulloblastoma with extensive nodularity C1334970 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD012751 Nodular Neoplasm C1334971 disease Neoplastic Process T191 Neoplastic Process 3 BXGD012752 Non-Cutaneous Melanoma C1334974 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD012753 Non-Hereditary Clear Cell Renal Cell Carcinoma C1334978 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 15 BXGD012754 Non-Neoplastic Peripheral Nervous System Disorder C1335029 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD012755 testicular nonseminoma C1335059 disease Neoplastic Process T191 Neoplastic Process 30 BXGD012756 Non-Small Cell Adenocarcinoma C1335060 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD012757 Occult Lung Adenocarcinoma C1335096 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012758 Occupational Malignant Neoplasm C1335101 phenotype Neoplastic Process T191 Neoplastic Process 1 BXGD012759 Ocular Adnexal Mucosa-Associated Lymphoid Tissue Lymphoma C1335103 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 14 BXGD012760 Olfactory Groove Meningioma C1335107 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD012761 Oligodendroglial Neoplasm C1335110 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 14 BXGD012762 Opisthorchis Viverrini-Related Cholangiocarcinoma C1335113 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD012763 Optic Nerve Astrocytoma C1335114 disease C04;C11;C10 Neoplasms; Eye Diseases; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD012764 Oral Cavity Granular Cell Tumor C1335118 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD012765 Osteogenic Neoplasm C1335146 disease Neoplastic Process T191 Neoplastic Process 7 BXGD012766 Osteosarcoma Arising in Paget Disease of Bone C1335148 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012767 Ovarian Cystic Teratoma C1335155 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012768 Ovarian Mucinous Adenocarcinoma C1335167 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 45 BXGD012769 Ovarian mucinous tumor C1335168 disease Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD012770 Ovarian Adenosarcoma C1335169 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012771 Ovarian Serous Adenocarcinoma C1335177 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 143 BXGD012772 Ovarian Serous Surface Papillary Adenocarcinoma C1335178 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012773 Ovarian Transitional Cell Carcinoma C1335184 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012774 Pancreatic Adenosquamous Carcinoma C1335299 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD012775 Pancreatic Ductal Adenocarcinoma C1335302 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 970 BXGD012776 Papillary Lung Adenocarcinoma C1335325 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012777 Parotid Gland Adenocarcinoma C1335354 disease Neoplastic Process T191 Neoplastic Process 2 BXGD012778 Adenoid cystic carcinoma of parotid gland C1335355 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012779 Carcinoma ex pleomorphic adenoma of parotid gland C1335356 disease Neoplastic Process T191 Neoplastic Process 2 BXGD012780 Mucoepidermoid carcinoma of parotid gland C1335363 disease Neoplastic Process T191 Neoplastic Process 2 BXGD012781 Parotid Gland Squamous Cell Carcinoma C1335367 disease Neoplastic Process T191 Neoplastic Process 5 BXGD012782 periampullary adenocarcinoma C1335377 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD012783 Lipomatosis of Nerve C1335389 disease C04;C18;C17;C10 Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012784 Pericytic Neoplasm C1335392 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD012785 Prostate Phyllodes Tumor C1335409 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD012786 Cyst of pineal gland C1335411 phenotype C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Finding HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T033 Finding 3 BXGD012787 Pleural Carcinomatosis C1335433 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD012788 Plexopathy C1335437 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD012789 precancerous polyps C1335468 phenotype Neoplastic Process T191 Neoplastic Process 17 BXGD012790 Primary chondrosarcoma of bone C1335473 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD012791 Primary Carcinoma C1335475 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 25 BXGD012792 Gastric Burkitt Lymphoma C1335482 disease C04;C01;C20;C15 Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012793 Gastric Diffuse Large B-Cell Lymphoma C1335483 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 8 BXGD012794 Primary Lung Meningioma C1335488 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD012795 Prostate Leiomyosarcoma C1335511 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012796 Prostate Lymphoma C1335512 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012797 Proximal-Type Epithelioid Sarcoma C1335563 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD012798 Radiation-Related Angiosarcoma C1335661 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD012799 Rectal Lipoma C1335684 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD012800 Recurrent Anaplastic Large Cell Lymphoma C1335693 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012801 Recurrent Follicular Lymphoma C1335701 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD012802 Recurrent Head and Neck Carcinoma C1335703 disease Neoplastic Process T191 Neoplastic Process 4 BXGD012803 Recurrent Malignant Peripheral Nerve Sheath Tumor C1335710 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD012804 Recurrent Medulloblastoma C1335712 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD012805 Recurrent Meningioma C1335713 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 9 BXGD012806 Refractory Follicular Lymphoma C1335723 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 16 BXGD012807 Refractory Mature T-Cell and NK-Cell Non-Hodgkin Lymphoma C1335727 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012808 Refractory Neoplasm C1335729 disease Neoplastic Process T191 Neoplastic Process 9 BXGD012809 Renal Pelvis Adenocarcinoma C1335748 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012810 Renal Pelvis Carcinoma C1335749 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012811 Salivary Gland Epithelial Myoepithelial Carcinoma C1335900 disease Neoplastic Process T191 Neoplastic Process 3 BXGD012812 Mucoepidermoid carcinoma of salivary gland C1335903 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 10 BXGD012813 Polymorphous low grade adenocarcinoma of salivary gland C1335907 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012814 Schwannomatosis C1335929 Q85.03 disease C16;C04;C17;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases Neoplastic Process DOID:630;DOID:7;DOID:14566 genetic disease; disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 18 BXGD012815 Breast Sclerosing Adenosis C1335931 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 4 BXGD012816 Signet-ring cell adenocarcinoma gastric C1335965 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD012817 Vulvar Intraepithelial Neoplasia, Differentiated Type C1335968 disease Neoplastic Process T191 Neoplastic Process 5 BXGD012818 Skeletal Muscle Neoplasm C1335971 disease C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012819 Skull Base Chordoma C1335975 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 17 BXGD012820 Skull Base Meningioma C1335976 disease C04;C05;C10 Neoplasms; Musculoskeletal Diseases; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD012821 Gastrointestinal stromal tumor of small intestine C1335996 C49.A3 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD012822 Small Intestinal Neuroendocrine Neoplasm C1336005 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012823 Solid Lung Adenocarcinoma C1336026 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD012824 Solid pseudopapillary tumour of the pancreas C1336030 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 9 BXGD012825 Spinal Degenerative Disorder C1336050 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD012826 Spindle Cell Neoplasm C1336052 disease Neoplastic Process T191 Neoplastic Process 19 BXGD012827 Spindle Cell Type Gastrointestinal Stromal Tumor C1336056 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD012828 Sporadic Breast Carcinoma C1336076 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 184 BXGD012829 Sporadic Burkitt's lymphoma C1336077 disease C04;C01;C20;C15 Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 20 BXGD012830 Papillary renal cell carcinoma, sporadic C1336078 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 17 BXGD012831 Squamous cell breast carcinoma C1336079 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012832 Thymic Squamous Cell Carcinoma C1336082 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD012833 Squamous Lung Dysplasia C1336084 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 8 BXGD012834 Stage IA1 Cervical Cancer C1336109 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012835 Stage IA Lung Adenocarcinoma AJCC v7 C1336117 disease Neoplastic Process T191 Neoplastic Process 7 BXGD012836 Stage IA Lung Cancer AJCC v7 C1336118 disease Neoplastic Process T191 Neoplastic Process 2 BXGD012837 stage IA non-small cell lung cancer C1336119 disease Neoplastic Process T191 Neoplastic Process 2 BXGD012838 Stage IB Uterine Corpus Cancer AJCC v7 C1336132 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012839 Stage IB Lung Adenocarcinoma AJCC v7 C1336137 disease Neoplastic Process T191 Neoplastic Process 2 BXGD012840 Stage IB Lung Cancer AJCC v7 C1336138 disease Neoplastic Process T191 Neoplastic Process 2 BXGD012841 Stage IB Non-Small Cell Lung Carcinoma AJCC v7 C1336139 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012842 Stage IIA Esophageal Squamous Cell Carcinoma AJCC v7 C1336160 disease Neoplastic Process T191 Neoplastic Process 3 BXGD012843 Stage IIB Osteosarcoma AJCC v7 C1336191 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012844 Stage 3 Neuroblastoma C1336257 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD012845 Subglottic hemangioma C1336518 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012846 Adenoid cystic carcinoma of submandibular gland C1336522 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD012847 Carcinoma of urinary bladder, superficial C1336527 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 66 BXGD012848 Supratentorial Glioblastoma C1336536 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD012849 Supratentorial Embryonal Tumor, Not Otherwise Specified C1336538 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 22 BXGD012850 Systemic Anaplastic Large Cell Lymphoma C1336548 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 19 BXGD012851 T-Cell and NK-Cell Neoplasm C1336554 disease Neoplastic Process T191 Neoplastic Process 7 BXGD012852 Testicular Germ Cell Tumor C1336708 disease C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 208 BXGD012853 testicular embryonal carcinoma and teratoma C1336716 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD012854 Testicular Sarcoma C1336727 disease C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012855 Thalamic Neoplasm C1336733 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012856 Treatment related acute myeloid leukaemia C1336735 disease Neoplastic Process T191 Neoplastic Process 65 BXGD012857 Thymic Lymphoma C1336745 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 45 BXGD012858 Thymic Carcinoid Tumor C1336746 C7A.091 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 8 BXGD012859 Thyroid Angiosarcoma C1336748 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD012860 Thyroid Diffuse Large B-Cell Lymphoma C1336749 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012861 Thyroid Gland Oncocytic Adenoma C1336750 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0002664 Abnormality of the endocrine system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD012862 Thyroid Hyalinizing Trabecular Adenoma C1336751 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD012863 Thyroid Lymphoma C1336753 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 20 BXGD012864 Treatment-Induced Anemia C1336820 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD012865 Type 1 Papillary Renal Cell Carcinoma C1336839 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD012866 Papillary renal cell carcinoma type 2 C1336840 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm T191 Neoplastic Process 6 BXGD012867 Type A Lymphomatoid Papulosis C1336841 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD012868 Type B Lymphomatoid Papulosis C1336842 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD012869 Undifferentiated Pancreatic Carcinoma C1336861 disease Neoplastic Process T191 Neoplastic Process 7 BXGD012870 Urethral Squamous Cell Carcinoma C1336890 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012871 Urinary Bladder Inflammatory Myofibroblastic Tumor C1336891 disease C23;C04;C13;C12 Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD012872 Uterine Angiosarcoma C1336899 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 6 BXGD012873 Endometrial Endometrioid Adenocarcinoma C1336905 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 53 BXGD012874 Well Differentiated Pancreatic Endocrine Tumor C1337011 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 117 BXGD012875 Well-differentiated papillary mesothelioma C1337012 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 9 BXGD012876 Differentiated Thyroid Gland Carcinoma C1337013 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 245 BXGD012877 Grade I Chondrosarcoma C1337014 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 7 BXGD012878 Xanthogranulomatous cholecystitis C1337035 disease C06;C18 Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD012879 Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions C1337036 disease Neoplastic Process T191 Neoplastic Process 6 BXGD012880 Adrenalitis C1364667 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD012881 Cerebral Cavernous Malformations 1 C1366911 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD012882 Kaposiform Hemangioendothelioma C1367420 disease C04;C01;C15 Neoplasms; Infections; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 11 BXGD012883 Cellular angiofibroma C1367534 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD012884 Nasopharyngeal Angiofibroma C1367536 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm T191 Neoplastic Process 17 BXGD012885 Adamantinoma C1367554 disease C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 24 BXGD012886 Marginal Zone B-Cell Lymphoma C1367654 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 124 BXGD012887 Eccrine Papillary Adenocarcinoma C1367774 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD012888 Digital papillary eccrine carcinoma of skin C1367789 disease Neoplastic Process T191 Neoplastic Process 4 BXGD012889 Pineal parenchymal tumor of intermediate differentiation C1367859 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012890 Pagetoid reticulosis C1367970 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD012891 Phlebitis and thrombophlebitis C1367972 I80.9 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD012892 Paget Disease C1368019 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 66 BXGD012893 Pancreatic Somatostatinoma C1368041 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD012894 islet cell gastrinoma C1368066 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD012895 Aplastic bone marrow C1368107 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD012896 Solitary Myofibromatosis C1368237 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 11 BXGD012897 Pigmented Basal Cell Carcinoma C1368275 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 28 BXGD012898 Malignant basal cell tumor C1368295 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012899 Hypopharyngeal Carcinoma C1368404 disease C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process T191 Neoplastic Process 103 BXGD012900 Epithelioma C1368683 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:14566 disease of cellular proliferation T191 Neoplastic Process 326 BXGD012901 Burkitt-like lymphoma C1368771 C83.7 disease C04;C01;C20;C15 Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD012902 Sebaceous adenoma C1368816 disease C04 Neoplasms Neoplastic Process HP:0001574;HP:0002664;HP:0000152 Abnormality of the integument; Neoplasm; Abnormality of head or neck DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD012903 Ovarian Sclerosing Stromal Tumor C1368821 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012904 Adult Teratoma C1368898 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 93 BXGD012905 Mature Teratoma C1368910 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 8 BXGD012906 Papillary urothelial carcinoma C1368911 disease Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 14 BXGD012907 Primary serous papillary carcinoma of peritoneum C1368918 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012908 Atypical Lobular Breast Hyperplasia C1368920 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 11 BXGD012909 Anal cancer metastatic C1369136 disease Neoplastic Process T191 Neoplastic Process 2 BXGD012910 Ovarian Granulosa Cell Tumor C1370419 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 23 BXGD012911 Cerebellar Liponeurocytoma C1370507 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD012912 Adult Intracranial Germ Cell Tumor C1370508 disease Neoplastic Process T191 Neoplastic Process 2 BXGD012913 Chordoid meningioma C1370510 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD012914 Soft tissue perineurioma C1370657 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD012915 Intraneural perineurioma C1370658 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD012916 Stromal sarcoma C1370723 disease Neoplastic Process T191 Neoplastic Process 7 BXGD012917 Bile duct adenocarcinoma C1370800 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD012918 Recurrent Childhood Hepatocellular Carcinoma C1370832 disease Neoplastic Process T191 Neoplastic Process 1 BXGD012919 Refractory Chronic Myelogenous Leukemia, BCR-ABL1 Positive C1370868 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD012920 Liposarcoma, well differentiated C1370889 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 54 BXGD012921 carcinoma of the renal pelvis and ureter C1370932 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD012922 Prostate cancer stage C C1370962 disease Neoplastic Process T191 Neoplastic Process 2 BXGD012923 Regressing nevus C1377589 disease Neoplastic Process T191 Neoplastic Process 4 BXGD012924 Peritoneal Mesothelioma C1377610 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 31 BXGD012925 Childhood Central Nervous System Neoplasm C1377665 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD012926 Adult Central Nervous System Neoplasm C1377678 group C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD012927 Periosteal Osteosarcoma C1377843 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD012928 refractory carcinoma of the testis C1377904 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD012929 Pleural Mesothelioma C1377913 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 19 BXGD012930 Stage IV Nasopharyngeal Carcinoma C1377919 disease C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process T191 Neoplastic Process 16 BXGD012931 Oncocytic Neoplasm C1378050 disease Neoplastic Process T191 Neoplastic Process 105 BXGD012932 Undifferentiated leukemia C1378511 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 120 BXGD012933 Renal carcinoma C1378703 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 665 BXGD012934 Increased capillary permeability (finding) C1382398 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 1 BXGD012935 Cardiac Hypertrophy C1383860 I51.7 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function T046 Pathologic Function 88 BXGD012936 Cellular Ependymoma C1384403 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD012937 Secretory meningioma C1384406 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 16 BXGD012938 Microcystic meningioma C1384408 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD012939 Metastatic Carcinoma C1384494 group C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 57 BXGD012940 Conn Syndrome C1384514 E26.01 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 82 BXGD012941 Primary testicular failure C1384582 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 4 BXGD012942 Congenital absence of germinal epithelium of testes C1384583 disease C12 Male Urogenital Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 82 BXGD012943 Generalized osteoarthritis C1384584 M19.91 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 63 BXGD012944 Hemangiomatosis C1384590 disease C04;C14 Neoplasms; Cardiovascular Diseases Neoplastic Process HP:0002664;HP:0001626 Neoplasm; Abnormality of the cardiovascular system T191 Neoplastic Process 3 BXGD012945 Systemic onset juvenile chronic arthritis C1384600 M08.20 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 90 BXGD012946 Dyspareunia C1384606 phenotype C13;C12;F03 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 37 BXGD012947 Cervical spondylosis C1384641 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD012948 hearing impairment C1384666 H91.9 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000598 Abnormality of the ear DOID:7 disease of anatomical entity T047 Disease or Syndrome 740 BXGD012949 Single umbilical artery C1384670 Q27.0 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001197;HP:0001626 Abnormality of prenatal development or birth; Abnormality of the cardiovascular system T019 Congenital Abnormality 28 BXGD012950 Intrauterine retardation C1386048 phenotype Pathologic Function HP:0001507 Growth abnormality T046 Pathologic Function 41 BXGD012951 Acute depression C1386135 disease C23;F03 Pathological Conditions, Signs and Symptoms; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD012952 Caffeine dependence C1386553 phenotype C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD012953 Penis agenesis C1387005 disease C12 Male Urogenital Diseases Congenital Abnormality T019 Congenital Abnormality 217 BXGD012954 Grass allergy C1387134 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD012955 allergic rhinitis with asthma C1387164 J45 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD012956 Acute haemolytic anaemia C1387528 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD012957 Chronic hemolytic anemia C1387532 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 15 BXGD012958 Episodic paroxysmal anxiety C1387805 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 14 BXGD012959 Abnormality of limbs C1387925 phenotype Anatomical Abnormality HP:0040064 Abnormality of limbs T190 Anatomical Abnormality 8 BXGD012960 Arteriosclerosis of aorta C1388177 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012961 Aneurysm of descending thoracic aorta C1388233 phenotype C14 Cardiovascular Diseases Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 15 BXGD012962 ATRIOVENTRICULAR CANAL DEFECT C1389016 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T190 Anatomical Abnormality 55 BXGD012963 Atrioventricular Septal Defect C1389018 Q21.2 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T019 Congenital Abnormality 58 BXGD012964 Atrophy of the spinal cord C1389102 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 13 BXGD012965 Generalized amyotrophy C1389113 disease Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 56 BXGD012966 Peroneal muscle atrophy C1389118 disease Disease or Syndrome HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T047 Disease or Syndrome 10 BXGD012967 Basal ganglia calcification C1389280 G23.8 phenotype Pathologic Function HP:0000707;HP:0000924 Abnormality of the nervous system; Abnormality of the skeletal system T046 Pathologic Function 22 BXGD012968 Internal hemorrhage C1390214 phenotype Pathologic Function HP:0001871;HP:0001626 Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T046 Pathologic Function 1 BXGD012969 Increased susceptibility to fractures C1390474 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 42 BXGD012970 Bone xanthoma C1390512 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD012971 Cancer cachexia C1391732 disease Neoplastic Process T191 Neoplastic Process 110 BXGD012972 Congenital cardiomyopathy C1391997 I42.4 disease Disease or Syndrome; Congenital Abnormality DOID:7 disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 1 BXGD012973 Cardiovascular insufficiency C1392046 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD012974 Coralliform cataract C1392104 disease C11 Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 2 BXGD012975 Crystalline cataract C1392110 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD012976 Centrocytic lymphoma C1392224 C83.1 disease Neoplastic Process T191 Neoplastic Process 5 BXGD012977 Nonobstructive chronic pyelonephritis NOS C1392616 N11.8 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD012978 Cognitive changes C1392786 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 50 BXGD012979 Congenital finger flexion contractures C1393871 disease Congenital Abnormality HP:0040064;HP:0000924;HP:0003549;HP:0003011 Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T019 Congenital Abnormality 5 BXGD012980 Coronal hypospadias C1394030 Q54.0 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 4 BXGD012981 Cortical hyperostosis C1394142 disease Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD012982 Crisis state C1394213 F43.0 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD012983 Cryptitis C1394254 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD012984 Cyanotic heart disease C1394290 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD012985 Endometrial Cyst C1394320 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Disease or Syndrome T047 Disease or Syndrome 1 BXGD012986 Cystocele (female) C1394494 N81.1 disease C23;C06;C13;C12 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0025031;HP:0000119;HP:0003549 Abnormality of the digestive system; Abnormality of the genitourinary system; Abnormality of connective tissue T047 Disease or Syndrome 2 BXGD012987 Intrinsic Factor Deficiency C1394891 disease C18;C15 Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 18 BXGD012988 Nervous system--Degeneration C1395088 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD012989 Placental dysfunction C1395512 O43.89 disease Disease or Syndrome T047 Disease or Syndrome 31 BXGD012990 Bowel diverticulosis C1395674 disease Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 5 BXGD012991 Polydactyly preaxial type 1 C1395852 Q69.1 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 49 BXGD012992 Perioral eczema C1396126 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T047 Disease or Syndrome 3 BXGD012993 Epidemic polyarthritis C1396740 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD012994 Hypoplasia of the epiglottis C1396772 disease Congenital Abnormality HP:0002086 Abnormality of the respiratory system T019 Congenital Abnormality 5 BXGD012995 Calcification of falx cerebri C1397139 disease Disease or Syndrome HP:0000707;HP:0000924 Abnormality of the nervous system; Abnormality of the skeletal system T047 Disease or Syndrome 6 BXGD012996 Cardiac fibrosis C1397307 disease Disease or Syndrome T047 Disease or Syndrome 297 BXGD012997 Stapes fixation C1397523 disease Acquired Abnormality T020 Acquired Abnormality 3 BXGD012998 Short palate C1398301 disease Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 3 BXGD012999 Narrow palate C1398312 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 40 BXGD013000 Cleft palate and bilateral cleft lip C1398522 disease Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 18 BXGD013001 chronic glomerular disease C1398786 N03 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD013002 Growth arrest lines C1399128 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD013003 Ectopic rhythm C1399226 I49.8 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 13 BXGD013004 Hemiparaesthesia C1399357 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD013005 Hemiparkinsonism C1399358 G20 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD013006 Brain necrosis C1399578 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD013007 skin fold (abnormality) C1399793 disease Anatomical Abnormality T190 Anatomical Abnormality 21 BXGD013008 Humoral immunodeficiency C1399819 disease C20 Immune System Diseases Disease or Syndrome HP:0002715 Abnormality of the immune system T047 Disease or Syndrome 9 BXGD013009 Attention deficit-hyperactivity C1399930 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 9 BXGD013010 Thyroid hypertrophy C1400126 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD013011 Absent pituitary C1400193 disease Anatomical Abnormality T190 Anatomical Abnormality 2 BXGD013012 Pituitary anomalies C1400201 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD013013 Immune complex nephritis C1400417 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD013014 Ovarian Insufficiency C1401084 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD013015 Pigmented lesions C1402291 disease Disease or Syndrome T047 Disease or Syndrome 18 BXGD013016 Primary Lesion C1402294 phenotype Disease or Syndrome T047 Disease or Syndrome 71 BXGD013017 Vascular lesions C1402315 disease Disease or Syndrome T047 Disease or Syndrome 111 BXGD013018 Subcutaneous lipoma C1403035 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002664;HP:0003549 Abnormality of the integument; Neoplasm; Abnormality of connective tissue T191 Neoplastic Process 10 BXGD013019 Viral meningoencephalitis C1403880 A86 disease C23;C01;C10 Pathological Conditions, Signs and Symptoms; Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD013020 Squamous cell metaplasia C1403996 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD013021 Valve anomalies C1404153 disease Congenital Abnormality T019 Congenital Abnormality 4 BXGD013022 Limb-girdle myopathy C1404521 disease Disease or Syndrome HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T047 Disease or Syndrome 3 BXGD013023 Drug-induced Nephropathy C1404837 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD013024 Septic peritonitis C1404931 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD013025 Poliomyelitis, paralytic C1405301 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD013026 Vaccine associated paralytic poliomyelitis C1405308 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD013027 Infant Irritability C1405430 phenotype F01 Behavior and Behavior Mechanisms Sign or Symptom T184 Sign or Symptom 2 BXGD013028 Retinitis punctata albescens (disorder) C1405854 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD013029 Absent radius C1405984 disease Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 24 BXGD013030 Symptomatic epilepsy C1406659 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD013031 Flexion contracture of toe C1406835 phenotype Finding HP:0040064;HP:0000924;HP:0003549;HP:0003011 Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T033 Finding 10 BXGD013032 Thoracic dysplasia C1406921 disease Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 6 BXGD013033 Thymus enlargement C1406945 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD013034 Hypertrophic neuropathy of infancy C1408174 G60.0 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 21 BXGD013035 Hereditary motor and sensory neuropathy, types I-IV C1408182 G60.0 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 21 BXGD013036 Renal disease (acute) NOS C1408247 N28.9 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD013037 Kidney damage C1408258 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 5 BXGD013038 Supranuclear ophthalmoplegia C1408507 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 5 BXGD013039 Periostosis C1409412 disease Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 2 BXGD013040 Coronary sinus defect C1409792 Q21.1 disease Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 5 BXGD013041 Spine stiffness C1410087 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD013042 Nontraumatic subarachnoid hemorrhage, unspecified C1410400 I60 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD013043 Narrow angle C1410927 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD013044 Developmental arithmetic disorder C1411876 F81.2 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 2 BXGD013045 Knot (abnormality) C1411926 disease Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD013046 Mycobacterium leprae infection C1411934 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD013047 Clostridium; difficile (disorder) C1411966 disease Disease or Syndrome T047 Disease or Syndrome 106 BXGD013048 Mycobacterium avium infection C1411980 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD013049 Mesenteric vascular insufficiency C1412000 K55.1 disease C06;C14 Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD013050 Atypical pneumonia C1412002 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD013051 Tumor of the Pineal Region C1412004 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD013052 Infiltrating duct carcinoma C1412014 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD013053 Anal squamous cell carcinoma C1412036 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 39 BXGD013054 Dystonia 6, torsion (disorder) C1414216 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD013055 HETEROTAXY, VISCERAL, 2, AUTOSOMAL C1415817 disease Disease or Syndrome DOID:0080015 physical disorder T047 Disease or Syndrome 39 BXGD013056 Disseminated carcinoma C1439275 disease Neoplastic Process T191 Neoplastic Process 1 BXGD013057 Enterostomy (morphologic abnormality) C1442523 disease Acquired Abnormality T020 Acquired Abnormality 2 BXGD013058 Acute respiratory tract infection C1442786 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome HP:0002715;HP:0002086 Abnormality of the immune system; Abnormality of the respiratory system T047 Disease or Syndrome 6 BXGD013059 Neonatal necrotizing enterocolitis C1442826 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD013060 Myocardial necrosis C1442837 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 30 BXGD013061 Hypervitaminosis D C1442839 E67.3 disease Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 2 BXGD013062 Exostoses C1442903 M27.8 phenotype C05 Musculoskeletal Diseases Disease or Syndrome HP:0002664;HP:0000924 Neoplasm; Abnormality of the skeletal system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 37 BXGD013063 Foreign body giant cell granuloma C1442907 disease C23;C15;C26 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 4 BXGD013064 Avascular necrosis of the capital femoral epiphysis C1442965 disease C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 23 BXGD013065 Hernia of abdominal wall C1442978 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0025031;HP:0003549 Abnormality of the digestive system; Abnormality of connective tissue T047 Disease or Syndrome 4 BXGD013066 Alcoholic liver damage C1442981 disease C06;C25;F03 Digestive System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 6 BXGD013067 Estradiol level result C1443016 phenotype Laboratory or Test Result T034 Laboratory or Test Result 21 BXGD013068 Carnitine Acetyltransferase Deficiency C1443228 phenotype C23;C16;C18;C11;C10;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD013069 Healthcare associated pneumonia C1443237 phenotype C23;C01;C08 Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 22 BXGD013070 Axial myopia C1443296 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 5 BXGD013071 Retinopathy of prematurity stage 1 - demarcation line C1443381 H35.12 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 3 BXGD013072 Retinopathy of prematurity stage 4 - subtotal retinal detachment C1443384 H35.15 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 1 BXGD013073 Chronic Q Fever C1443892 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 22 BXGD013074 Severe diarrhea C1443924 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 47 BXGD013075 Chronic esophagitis C1443971 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD013076 Disease due to Neisseria C1444087 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD013077 Ocular syphilis C1444605 disease C13;C01;C11;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Eye Diseases; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD013078 Posterior capsule opacification C1444680 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD013079 Juvenile idiopathic arthritis, enthesitis related arthritis C1444844 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD013080 Poor eye contact C1445953 phenotype F03 Mental Disorders Finding HP:0000707 Abnormality of the nervous system T033 Finding 73 BXGD013081 Serum total cholesterol measurement C1445957 phenotype Laboratory Procedure T059 Laboratory Procedure 486 BXGD013082 Non-specific brain syndrome C1446648 group C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD013083 Overlapping fingers C1446712 disease Acquired Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T020 Acquired Abnormality 27 BXGD013084 rings tracheal C1446783 disease Anatomical Abnormality T190 Anatomical Abnormality 4 BXGD013085 Cramping sensation quality C1446787 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD013086 Cardiomyopathy, Familial Idiopathic C1449563 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 773 BXGD013087 CADASILM C1449626 disease C23;C16;C10;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD013088 Primary Peritonitis C1449646 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD013089 Secondary Peritonitis C1449647 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 8 BXGD013090 Adolescent Gynecomastia C1449720 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD013091 Infant Gynecomastia C1449721 P83.4 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD013092 Myopia, Progressive C1449744 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD013093 Pseudohypoaldosteronism, Type I, Autosomal Dominant C1449842 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 13 BXGD013094 Pseudohypoaldosteronism, Type I, Autosomal Recessive C1449843 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 10 BXGD013095 Pseudohypoaldosteronism, Type II C1449844 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 27 BXGD013096 Erythematotelangiectatic Rosacea C1449852 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013097 Papulopustular Rosacea C1449853 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD013098 Micronuclei, Chromosome-Defective C1449861 phenotype C23 Pathological Conditions, Signs and Symptoms Cell Component T026 Cell Component 26 BXGD013099 Micronuclei, Genotoxicant-Induced C1449862 phenotype C23 Pathological Conditions, Signs and Symptoms Cell Component T026 Cell Component 26 BXGD013100 Plagiocephaly, Nonsynostotic C1450010 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD013101 Autosomal Recessive Emery-Dreifuss Muscular Dystrophy C1450051 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD013102 Tibial Muscular Dystrophy C1450052 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD013103 Pulmonary Histiocytosis X C1455705 disease C08;C15 Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD013104 Neurological ventriculitis C1455718 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD013105 Acute fatty liver of pregnancy C1455728 disease C06;C13 Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 5 BXGD013106 Congenital hypoparathyroidism C1455734 disease C19 Endocrine System Diseases Congenital Abnormality HP:0000818 Abnormality of the endocrine system T019 Congenital Abnormality 5 BXGD013107 Aortic valve sclerosis C1455780 disease C18;C14 Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD013108 Dental caries of smooth surface C1456145 K02.6 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD013109 Narcolepsy without cataplexy C1456240 G47.419 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 3 BXGD013110 Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site C1456246 disease Disease or Syndrome T047 Disease or Syndrome 43 BXGD013111 Mitochondrial metabolism disorder, unspecified C1456275 E88.4 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD013112 Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome) C1456276 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD013113 Other alcohol-induced mental disorders C1456283 disease Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 2 BXGD013114 Selective mutism specific to childhood and adolescence C1456326 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD013115 Stimulant abuse C1456332 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD013116 Crushing sensation C1456399 phenotype Sign or Symptom T184 Sign or Symptom 10 BXGD013117 Absence of muscle C1456418 Q79.8 disease Congenital Abnormality DOID:0080015 physical disorder T019 Congenital Abnormality 12 BXGD013118 Genetic Brain Disorders C1456542 group Disease or Syndrome T047 Disease or Syndrome 1 BXGD013119 Vision Impairment and Blindness C1456582 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD013120 Methamphetamine abuse C1456624 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 15 BXGD013121 Cancer, Benign C1456633 phenotype Neoplastic Process T191 Neoplastic Process 3 BXGD013122 Polio and Post-Polio Syndrome C1456687 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 16 BXGD013123 Benign melanocytic nevus C1456781 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 122 BXGD013124 Paranoia C1456784 F22 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 35 BXGD013125 Still's disease with juvenile onset and/or adult onset C1456792 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD013126 Ventouse delivery (finding) C1456852 phenotype Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 3 BXGD013127 Ureteral Calculi C1456865 disease C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD013128 Diabetic foot ulcer C1456868 disease C17;C19;C14 Skin and Connective Tissue Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 107 BXGD013129 alpha^+^ Thalassemia C1456873 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 92 BXGD013130 Sarcoid arthritis C1457871 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013131 Os trigonum disorder C1457873 disease Congenital Abnormality T019 Congenital Abnormality 2 BXGD013132 Aggressive reaction C1457883 phenotype F03;F01 Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 10 BXGD013133 Congenital hypogammaglobulinemia C1457897 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD013134 Bleeding tendency C1458140 phenotype C15 Hemic and Lymphatic Diseases Pathologic Function HP:0001871 Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T046 Pathologic Function 71 BXGD013135 Squamous odontogenic tumor C1458142 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD013136 Mammary Neoplasms C1458155 group C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0002664;HP:0000769 Neoplasm; Abnormality of the breast DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2780 BXGD013137 Polypoidal choroidal vasculopathy C1504336 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 56 BXGD013138 Allergic disorder of respiratory system C1504369 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013139 Diabetic macroangiopathy C1504375 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD013140 Pulmonary arterial medial hypertrophy C1504382 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system T047 Disease or Syndrome 2 BXGD013141 Hippocampal sclerosis C1504404 G93.81 disease Disease or Syndrome T047 Disease or Syndrome 84 BXGD013142 Pyramidal Tract Dysfunction C1504405 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 3 BXGD013143 Testotoxicosis C1504412 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD013144 Idiopathic pneumonia syndrome C1504431 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD013145 Cerebral artery stenosis C1504438 disease Disease or Syndrome HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system T047 Disease or Syndrome 3 BXGD013146 Infection by human herpesvirus 7 C1504514 B10.82 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD013147 Acute lymphoblastic leukemia recurrent C1504525 disease Neoplastic Process T191 Neoplastic Process 8 BXGD013148 Secondary epilepsy C1504530 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD013149 Post transplant diabetes mellitus C1504532 disease Disease or Syndrome T047 Disease or Syndrome 21 BXGD013150 Post transplant erythrocytosis C1504533 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD013151 Cerebellitis C1504541 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD013152 Pelvic insufficiency fracture C1504553 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD013153 Retinal gliosis C1504559 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD013154 Stenosis of middle cerebral artery C1504568 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system T047 Disease or Syndrome 2 BXGD013155 Histiocytoma C1509147 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD013156 Sclerosing hemangioma C1509148 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD013157 Gait Apraxia C1510417 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T047 Disease or Syndrome 1 BXGD013158 Cavitation C1510420 disease Anatomical Abnormality T190 Anatomical Abnormality 47 BXGD013159 childhood choroid plexus carcinoma C1510426 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD013160 Cerebral abscess C1510428 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD013161 Entrapment Neuropathies C1510429 group C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD013162 Superficial Thrombophlebitis C1510431 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 5 BXGD013163 Radiation Sickness C1510432 disease C26 Wounds and Injuries Injury or Poisoning T037 Injury or Poisoning 1 BXGD013164 Acute ischemic heart disease C1510446 I24.9 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD013165 Chronic iridocyclitis C1510449 H20.1 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD013166 Dysacusis C1510450 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom T184 Sign or Symptom 3 BXGD013167 Acrocephalosyndactylia C1510455 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 3 BXGD013168 Orofaciodigital Syndrome I C1510460 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 17 BXGD013169 Vitamin Deficiency C1510471 E56.9 group C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD013170 Drug Dependence C1510472 group C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 248 BXGD013171 Diverticulosis C1510475 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 43 BXGD013172 Neuralgic Amyotrophy C1510479 G54.5 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD013173 Cerebral Amyloid Angiopathy, Hereditary C1510489 disease C16;C18;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 19 BXGD013174 Lens Opacities C1510497 phenotype C11 Eye Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 24 BXGD013175 Oxyphilic Adenoma C1510502 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 114 BXGD013176 Autism Spectrum Disorders C1510586 F84.0 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1071 BXGD013177 Epididymal Adenocarcinoma C1510784 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD013178 Angiogenic Switch C1510885 disease Neoplastic Process T191 Neoplastic Process 96 BXGD013179 Benign Struma Ovarii C1511104 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5 BXGD013180 Breast Carcinoma with Choriocarcinomatous Features C1511302 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD013181 Breast Diffuse Large B-Cell Lymphoma C1511306 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD013182 cutaneous B-cell non-Hodgkin lymphoma C1511566 disease Neoplastic Process T191 Neoplastic Process 16 BXGD013183 Desmoplastic C1511789 disease Disease or Syndrome T047 Disease or Syndrome 117 BXGD013184 Differentiating Neuroblastoma C1511934 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 20 BXGD013185 HER2 gene amplification C1512127 disease Disease or Syndrome T047 Disease or Syndrome 170 BXGD013186 Grade II Meningioma C1512259 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD013187 Grade I Meningioma C1512260 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 7 BXGD013188 Hepatocarcinogenesis C1512409 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 855 BXGD013189 Hereditary Melanoma C1512419 disease C16;C04;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 50 BXGD013190 High Grade B-Cell Non-Hodgkin's Lymphoma C1512431 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD013191 Cervical high grade squamous intraepithelial lesion C1512433 disease C23;C04;C13 Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 42 BXGD013192 Human herpesvirus 8 infection C1512508 B10.89 disease C01;C20 Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD013193 Increased Cellularity Present C1512694 disease Neoplastic Process T191 Neoplastic Process 21 BXGD013194 Chronic Lymphoproliferative Disorder of NK-Cells C1512709 disease C23 Pathological Conditions, Signs and Symptoms Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 17 BXGD013195 Infiltrating Urothelial Carcinoma C1512751 disease Neoplastic Process T191 Neoplastic Process 1 BXGD013196 Mammary Tumorigenesis C1512981 phenotype C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 162 BXGD013197 Microcysts C1513269 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Anatomical Abnormality T190 Anatomical Abnormality 12 BXGD013198 Mild Adverse Event C1513302 phenotype Finding T033 Finding 5 BXGD013199 Solid/Multicystic Ameloblastoma C1513734 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD013200 Poorly Differentiated Neuroblastoma C1514225 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD013201 Potassium Deficiency Disorder C1514284 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 3 BXGD013202 Glioblastoma, IDH-Wildtype C1514422 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 75 BXGD013203 Primary peritoneal carcinoma C1514428 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 49 BXGD013204 Prostate Basal Cell Carcinoma C1514507 disease Neoplastic Process T191 Neoplastic Process 1 BXGD013205 Prostate Stromal Proliferation of Uncertain Malignant Potential C1514517 disease Neoplastic Process T191 Neoplastic Process 3 BXGD013206 Retinal hemangioblastoma C1514915 disease C04;C11 Neoplasms; Eye Diseases Neoplastic Process HP:0000707;HP:0002664;HP:0000152;HP:0000478;HP:0001626 Abnormality of the nervous system; Neoplasm; Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD013207 Surgically-Created Resection Cavity C1515091 disease Acquired Abnormality T020 Acquired Abnormality 16 BXGD013208 Synchronous Bilateral Breast Carcinoma C1515107 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD013209 Testicular gonadoblastoma C1515283 disease C16;C04;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD013210 Testicular Intratubular Germ Cell Neoplasia, Unclassified C1515286 disease Neoplastic Process T191 Neoplastic Process 1 BXGD013211 Astler-Coller B1 Rectal Carcinoma C1516061 disease Neoplastic Process T191 Neoplastic Process 22 BXGD013212 Cervical Mesonephric Adenocarcinoma C1516419 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD013213 Cellular Congenital Mesoblastic Nephroma C1516474 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD013214 Cholangiolocellular Carcinoma C1516490 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 16 BXGD013215 Overt Primary Myelofibrosis C1516552 disease C15 Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD013216 Prefibrotic/Early Primary Myelofibrosis C1516553 disease C15 Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD013217 Serous Endometrial Intraepithelial Carcinoma C1516857 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD013218 Endometrial Small Cell Carcinoma C1516858 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD013219 Endometrial Undifferentiated Carcinoma C1516865 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 4 BXGD013220 Estrogen Receptor Status - Clinical Trial Eligibility Criteria C1516974 phenotype Clinical Attribute T201 Clinical Attribute 1 BXGD013221 Cervical Keratinizing Squamous Cell Carcinoma C1517658 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD013222 Lipid-Rich Breast Carcinoma C1517894 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD013223 Low Grade B-Cell Non-Hodgkin's Lymphoma C1518004 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD013224 Low Grade Cervical Squamous Intraepithelial Neoplasia C1518005 disease C23;C04;C13 Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 8 BXGD013225 Clear cell adenocarcinoma of ovary C1518693 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 30 BXGD013226 Ovarian Fetiform Teratoma C1518715 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD013227 Ovarian gonadoblastoma C1518716 disease C16;C04;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD013228 Ovarian Small Cell Carcinoma, Hypercalcemic Type C1518736 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD013229 peak expiratory flow (procedure) C1518922 phenotype Laboratory Procedure T059 Laboratory Procedure 74 BXGD013230 Pilomyxoid astrocytoma C1519086 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 15 BXGD013231 Salivary Gland Carcinoma ex Pleomorphic Adenoma C1519172 disease Neoplastic Process T191 Neoplastic Process 4 BXGD013232 Salivary Gland Pleomorphic Adenoma C1519176 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 63 BXGD013233 Glioblastoma, IDH-Mutant C1519214 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 14 BXGD013234 Seminal Vesicle Adenocarcinoma C1519233 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD013235 Skin Carcinogenesis C1519346 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 194 BXGD013236 Skin Papule C1519353 phenotype C17 Skin and Connective Tissue Diseases Finding T033 Finding 74 BXGD013237 Smoking Behaviors C1519383 phenotype F01 Behavior and Behavior Mechanisms Individual Behavior T055 Individual Behavior 249 BXGD013238 Trisomy 4 C1519653 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 16 BXGD013239 Tumor-Associated Process C1519665 phenotype C23 Pathological Conditions, Signs and Symptoms Neoplastic Process T191 Neoplastic Process 8 BXGD013240 Tumor-Associated Vasculature C1519666 disease Acquired Abnormality T020 Acquired Abnormality 84 BXGD013241 Tumor Angiogenesis C1519670 phenotype C23 Pathological Conditions, Signs and Symptoms Neoplastic Process T191 Neoplastic Process 822 BXGD013242 Tumor Cell Mobility C1519675 phenotype Neoplastic Process T191 Neoplastic Process 5 BXGD013243 Tumor Expansion C1519678 phenotype Neoplastic Process T191 Neoplastic Process 46 BXGD013244 Tumor Immunity C1519680 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 337 BXGD013245 Tumor Promotion C1519689 phenotype C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 170 BXGD013246 Turcot Syndrome Type 1 C1519702 disease C16;C06;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD013247 Turcot Syndrome Type 2 C1519703 disease C16;C06;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD013248 Type II Endometrial Adenocarcinoma C1519714 disease Neoplastic Process T191 Neoplastic Process 3 BXGD013249 Type I Endometrial Adenocarcinoma C1519719 disease Neoplastic Process T191 Neoplastic Process 4 BXGD013250 Undifferentiated Neuroblastoma C1519787 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 12 BXGD013251 Mature T ALL C1521897 disease Neoplastic Process T191 Neoplastic Process 6 BXGD013252 Hypercholesterolemia result C1522133 phenotype Finding T033 Finding 3 BXGD013253 Hypermagnesemia result C1522135 phenotype Finding T033 Finding 7 BXGD013254 Leukemia, Large Granular Lymphocytic C1522378 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 78 BXGD013255 Transient Situational Disturbance C1522512 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD013256 Depression and Suicide C1524032 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 15 BXGD013257 Breast Adenolipoma C1524056 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD013258 Bonnevie-Ullrich Syndrome C1527168 disease C16;C13;C12;C19;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD013259 Angioblastic Meningioma C1527197 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 12 BXGD013260 Radiation-induced disorder C1527225 group C23;C21 Pathological Conditions, Signs and Symptoms; Disorders of Environmental Origin Disease or Syndrome T047 Disease or Syndrome 1 BXGD013261 Adrenomyeloneuropathy C1527231 E71.522 disease C16;C18;C10;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 38 BXGD013262 Infantile paralysis C1527258 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 1 BXGD013263 Acanthocheilonemiasis C1527287 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 2 BXGD013264 Dysentery, Bacillary C1527298 A03.9 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 2 BXGD013265 Chronic Airflow Obstruction C1527303 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 35 BXGD013266 Allergic Reaction C1527304 T78.40 phenotype C20 Immune System Diseases Pathologic Function DOID:7 disease of anatomical entity T046 Pathologic Function 197 BXGD013267 spasmus nutans C1527306 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD013268 Brain Edema C1527311 phenotype C10 Nervous System Diseases Pathologic Function HP:0001939;HP:0000707 Abnormality of metabolism/homeostasis; Abnormality of the nervous system DOID:7 disease of anatomical entity T046 Pathologic Function 30 BXGD013269 Alpha-Aminoadipic Semialdehyde Deficiency Disease C1527317 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD013270 Transient Ischemic Attack, Anterior Circulation C1527335 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD013271 Sjogren's Syndrome C1527336 M35.0 disease C11;C17;C05;C20;C07 Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 481 BXGD013272 Familial Amyloid Polyneuropathy, Appalachian Type C1527337 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013273 Hereditary Cerebral Amyloid Angiopathy, Icelandic Type C1527338 disease C16;C18;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD013274 Voice Disturbance C1527340 phenotype C23;C08;C10;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013275 Dysphonia C1527344 R49.0 phenotype C23;C08;C10;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Mental or Behavioral Dysfunction HP:0000707;HP:0001608 Abnormality of the nervous system; Abnormality of the voice T048 Mental or Behavioral Dysfunction 77 BXGD013276 Brain Hypoxia C1527348 phenotype C10 Nervous System Diseases Pathologic Function T046 Pathologic Function 12 BXGD013277 Ductal Breast Carcinoma C1527349 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 196 BXGD013278 Hepatic Form of Wilson Disease C1527352 disease C16;C06;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 24 BXGD013279 Phototoxicity C1527358 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 52 BXGD013280 Salaam Seizures C1527366 G40.82 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 75 BXGD013281 Cystic Breast Disease C1527375 N60.1 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 1 BXGD013282 Morphea C1527383 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 20 BXGD013283 Involuntary Quiver C1527384 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 10 BXGD013284 Amniotic Bands C1527388 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0001197 Abnormality of prenatal development or birth T019 Congenital Abnormality 6 BXGD013285 Neoplasms, Intracranial C1527390 group C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 157 BXGD013286 Ogilvie Syndrome C1527395 K59.81 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD013287 Fibrocystic Disease of Pancreas C1527396 disease C16;C06;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 9 BXGD013288 Narcotic Dependence C1527402 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 7 BXGD013289 Female Pseudo-Turner Syndrome C1527404 disease C16;C17;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Congenital Abnormality DOID:630;DOID:225 genetic disease; syndrome T019 Congenital Abnormality 11 BXGD013290 Erythrocytosis C1527405 D75.1 phenotype C15 Hemic and Lymphatic Diseases Finding HP:0001871 Abnormality of blood and blood-forming tissues DOID:630;DOID:7 genetic disease; disease of anatomical entity T033 Finding 9 BXGD013291 Eosinophilic Pneumonia C1527407 J82.81 disease C08;C15 Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD013292 Thrombosis of retinal vein C1527411 disease C11;C14 Eye Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD013293 Cervical Squamous Intraepithelial Neoplasia 1 C1527424 disease Neoplastic Process T191 Neoplastic Process 13 BXGD013294 Perinatal jaundice C1531394 disease C23;C16;C17 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013295 Alpha carotene level C1531500 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD013296 Chronic myeloid leukemia in lymphoid blast crisis C1531551 disease C23;C04;C15 Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD013297 Dendritic cell neoplasm C1531553 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD013298 Anterior segment ischemia C1531582 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 2 BXGD013299 Smoldering myeloma C1531608 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 41 BXGD013300 Cardioembolic stroke C1531624 disease Disease or Syndrome T047 Disease or Syndrome 42 BXGD013301 Cerebral ventriculomegaly C1531647 phenotype C10 Nervous System Diseases Finding DOID:7 disease of anatomical entity T033 Finding 410 BXGD013302 Currarino triad C1531773 disease C16;C06;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD013303 Paralytic rabies C1532094 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD013304 Disorder of immune function C1532237 group C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 1 BXGD013305 Sarcoid uveitis C1532790 disease C11;C15 Eye Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD013306 Histiocytic proliferation C1533022 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD013307 Primary congenital glaucoma C1533041 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 24 BXGD013308 Multifocal choroiditis C1533060 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD013309 Eccrine Poroma C1533161 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD013310 Disorder of cellular component of blood C1533163 group C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 2 BXGD013311 Infantile nystagmus syndrome C1533172 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 54 BXGD013312 Acute myeloid leukemia, inv(16)(p13q22) C1533174 disease Neoplastic Process T191 Neoplastic Process 4 BXGD013313 Methamphetamine dependence C1533217 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 33 BXGD013314 fertility disorders C1533568 group C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD013315 Hydroxymethylglutaric aciduria C1533587 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD013316 Malignant Paraganglionic Neoplasm C1533592 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD013317 child neglect behavior C1533650 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD013318 Disorder of skeletal muscle C1533847 group C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0003011 Abnormality of the musculature DOID:7 disease of anatomical entity T047 Disease or Syndrome 29 BXGD013319 ADENOMAS AND ADENOCARCINOMAS C1535510 group C04 Neoplasms Neoplastic Process T191 Neoplastic Process 51 BXGD013320 Orthostatic intolerance C1535893 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding DOID:630;DOID:7 genetic disease; disease of anatomical entity T033 Finding 2 BXGD013321 Nipah Virus Infection C1535917 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD013322 Neurodevelopmental Disorders C1535926 F89 group F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 535 BXGD013323 Pneumocystis jiroveci pneumonia C1535939 B59 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 180 BXGD013324 Polyglandular Type III Autoimmune Syndrome C1535942 disease C20;C19 Immune System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD013325 Gastrointestinal inflammation C1535950 disease Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T047 Disease or Syndrome 39 BXGD013326 Stenosis of foramen magnum C1535953 disease Disease or Syndrome HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T047 Disease or Syndrome 6 BXGD013327 Cholestatic pruritus C1535964 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Sign or Symptom T184 Sign or Symptom 15 BXGD013328 Hyperchylomicronemia C1535978 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 2 BXGD013329 Staphylococcal osteomyelitis C1535985 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD013330 Lymphoma transformation C1536010 disease Neoplastic Process T191 Neoplastic Process 6 BXGD013331 Dysbacteriosis C1536021 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 5 BXGD013332 Osteoarticular pain C1536074 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD013333 Sudden unexplained death in epilepsy C1536075 disease Disease or Syndrome T047 Disease or Syndrome 12 BXGD013334 Geographic Atrophy C1536085 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 85 BXGD013335 Positive myoclonus C1536088 phenotype Sign or Symptom T184 Sign or Symptom 3 BXGD013336 Central pain syndrome C1536114 G89.0 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013337 Heart failure NYHA class II C1536131 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD013338 Chocolate cyst of ovary C1536148 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 50 BXGD013339 Chronic pelvic pain syndrome C1536168 phenotype Sign or Symptom T184 Sign or Symptom 8 BXGD013340 Refractory angina pectoris C1536180 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD013341 ST segment elevation myocardial infarction C1536220 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 264 BXGD013342 Non ST segment elevation myocardial infarction C1536221 disease Disease or Syndrome T047 Disease or Syndrome 18 BXGD013343 Non STEMI C1536222 disease Disease or Syndrome T047 Disease or Syndrome 13 BXGD013344 Central areolar choroidal sclerosis C1536451 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD013345 Deficiency of acetyl-CoA acetyltransferase C1536500 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 7 BXGD013346 Bowenoid papulosis of penis C1536526 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD013347 Arterial leg ulcer C1536651 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD013348 cancer angiogenesis C1536999 phenotype Neoplastic Process T191 Neoplastic Process 44 BXGD013349 Hypereosinophilic syndrome C1540912 D72.11 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 19 BXGD013350 Adult Giant Cell Glioblastoma C1541316 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 13 BXGD013351 Adult Gliosarcoma C1541317 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 44 BXGD013352 adult acute myeloid leukemia with inv(16)(p13;q22) C1541333 disease Neoplastic Process T191 Neoplastic Process 1 BXGD013353 Adult Oligodendroglial Tumor C1541567 disease Neoplastic Process T191 Neoplastic Process 14 BXGD013354 PRESENILE AND SENILE DEMENTIA C1541844 disease C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction DOID:630;DOID:7 genetic disease; disease of anatomical entity T048 Mental or Behavioral Dysfunction 1 BXGD013355 Infective endocarditis C1541923 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 62 BXGD013356 bullous staphylococcal impetigo C1542647 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD013357 Congenital erythroid hypoplasia C1542667 disease Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 3 BXGD013358 Acute Hemolytic Transfusion Reaction C1549006 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013359 Ocular surface disease C1557335 disease Disease or Syndrome T047 Disease or Syndrome 12 BXGD013360 Blurred Vision, CTCAE C1557375 phenotype Finding T033 Finding 26 BXGD013361 Adverse Event Associated with Cardiac Arrhythmia C1560249 phenotype Disease or Syndrome T047 Disease or Syndrome 42 BXGD013362 Prolonged QTc interval C1560305 phenotype Pathologic Function HP:0001626 Abnormality of the cardiovascular system T046 Pathologic Function 25 BXGD013363 Chronic Kidney Diseases C1561643 N18.9 group C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1074 BXGD013364 Overweight and obesity C1561826 E66 disease Disease or Syndrome T047 Disease or Syndrome 81 BXGD013365 Anemia in chronic kidney disease C1561828 D63.1 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD013366 Non-ST elevation (NSTEMI) myocardial infarction C1561921 I21.4 disease Disease or Syndrome T047 Disease or Syndrome 17 BXGD013367 Fibrinogen, CTCAE C1561955 phenotype Finding T033 Finding 26 BXGD013368 Limbal stem cell deficiency C1561989 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD013369 Undifferentiated inflammatory arthritis C1562028 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD013370 Microspherophakia C1562061 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 9 BXGD013371 Human T-cell Lymphoma Virus Type -1 associated uveitis C1562067 disease C01;C11;C20 Infections; Eye Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD013372 Fleck corneal dystrophy C1562113 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 104 BXGD013373 Estrogen receptor positive tumor C1562312 disease Neoplastic Process T191 Neoplastic Process 4 BXGD013374 Vein of Galen Malformations C1562503 disease C16;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD013375 Leprosy, Multibacillary C1562585 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 34 BXGD013376 Congenital hereditary endothelial dystrophy C1562689 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD013377 Acute cerebellar syndrome C1562722 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013378 Punctate epithelial keratitis C1562761 disease C11 Eye Diseases Disease or Syndrome HP:0002715;HP:0000478 Abnormality of the immune system; Abnormality of the eye T047 Disease or Syndrome 3 BXGD013379 Retrocorneal fibrous membrane C1562893 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD013380 Thiel-Behnke corneal dystrophy C1562894 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 12 BXGD013381 Leprosy, Paucibacillary C1562908 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 31 BXGD013382 Hormone receptor positive tumor C1563119 disease Neoplastic Process T191 Neoplastic Process 1 BXGD013383 Dysarthria, Guttural C1563666 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD013384 DNA Repair-Deficiency Disorders C1563696 group C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD013385 Chromosome Instability Syndromes C1563697 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD013386 Nephrogenic Diabetes Insipidus, Type I C1563705 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 24 BXGD013387 Nephrogenic Diabetes Insipidus, Type II C1563706 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD013388 Myopathic Ophthalmopathy C1563709 disease C16;C11;C20;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD013389 Andersen Syndrome C1563715 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 23 BXGD013390 Thyroid Dysgenesis C1563716 disease C16;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality HP:0000818 Abnormality of the endocrine system DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 24 BXGD013391 Genital Infantilism C1563718 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013392 Kallmann Syndrome 1 C1563719 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 12 BXGD013393 Kallmann Syndrome 2 (disorder) C1563720 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 8 BXGD013394 Abdominal Cryptorchidism C1563730 disease C16;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality T019 Congenital Abnormality 8 BXGD013395 Inguinal Cryptorchidism C1563731 phenotype C16;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Finding T033 Finding 8 BXGD013396 adiposity C1563743 phenotype Organism Attribute DOID:0014667 disease of metabolism T032 Organism Attribute 4 BXGD013397 Atherogenesis C1563937 phenotype C14 Cardiovascular Diseases Pathologic Function T046 Pathologic Function 59 BXGD013398 Headache Disorders, Primary C1565106 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013399 Mobility Limitation C1565249 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 3 BXGD013400 Cholera Infantum C1565321 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD013401 Renal Insufficiency C1565489 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 615 BXGD013402 Acute Kidney Insufficiency C1565662 N28.9 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 104 BXGD013403 Direct Hyperbilirubinemia, Neonatal C1565885 phenotype C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 3 BXGD013404 Indirect Hyperbilirubinemia, Neonatal C1565886 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 4 BXGD013405 Newborn physiological jaundice C1565887 phenotype C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Sign or Symptom DOID:7 disease of anatomical entity T184 Sign or Symptom 2 BXGD013406 Posterior Fossa Meningioma C1565950 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 12 BXGD013407 Sphenoid Wing Meningioma C1565951 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 14 BXGD013408 Icterus Gravis Neonatorum C1566050 phenotype C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 1 BXGD013409 Preterm Premature Rupture of Fetal Membranes C1566302 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 5 BXGD013410 Delayed Graft Function C1566590 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 6 BXGD013411 Granulosa Cell Cancer C1567257 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD013412 Unilateral Multicystic Dysplastic Kidney C1567426 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 3 BXGD013413 Polycystic Kidney - body part C1567435 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 54 BXGD013414 Alport Syndrome C1567741 Q87.81 disease C16;C13;C17;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 51 BXGD013415 Alport Syndrome, X-Linked C1567742 disease C16;C13;C17;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 13 BXGD013416 Alport Syndrome, Autosomal Dominant C1567743 disease C16;C13;C17;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD013417 Alport Syndrome, Autosomal Recessive C1567744 disease C16;C13;C17;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 8 BXGD013418 Usher Syndrome, Type I C1568247 disease C23;C16;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 23 BXGD013419 Usher Syndrome, Type III C1568248 disease C23;C16;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 13 BXGD013420 Usher Syndrome, Type II C1568249 disease C23;C16;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 12 BXGD013421 Tendinopathy C1568272 disease C05;C26 Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 80 BXGD013422 Tendinosis C1568363 disease C05;C26 Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 28 BXGD013423 Oral Mucositis C1568868 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 59 BXGD013424 Adenocarcinoma, Endometrioid C1569637 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 130 BXGD013425 Involutional paraphrenia C1571983 F22 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 25 BXGD013426 Psychosis, Involutional C1571984 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 25 BXGD013427 Valgus deformities of feet C1578482 disease C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064 Abnormality of limbs T190 Anatomical Abnormality 26 BXGD013428 Myxedema, Congenital C1578691 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 4 BXGD013429 Chronic uremia C1579029 N18.9 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD013430 Leg ischaemia C1579665 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD013431 Retinal thrombosis C1579873 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD013432 Autoimmune myocarditis C1608389 disease Disease or Syndrome T047 Disease or Syndrome 63 BXGD013433 Megacystis microcolon intestinal hypoperistalsis syndrome C1608393 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 9 BXGD013434 Malignant transformation C1608408 phenotype Neoplastic Process T191 Neoplastic Process 1027 BXGD013435 Head titubation C1608410 phenotype Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 7 BXGD013436 Compensated cirrhosis C1608426 disease Disease or Syndrome T047 Disease or Syndrome 23 BXGD013437 Mycobacterium abscessus Infection C1608955 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 6 BXGD013438 Congenital absence of kidneys syndrome C1609433 Q60.1 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 110 BXGD013439 Myelolipoma of adrenal gland C1609519 disease Neoplastic Process T191 Neoplastic Process 3 BXGD013440 ADHF C1609524 disease Disease or Syndrome T047 Disease or Syndrome 46 BXGD013441 Restrictive deficit on pulmonary function testing C1609528 phenotype C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system T047 Disease or Syndrome 16 BXGD013442 Functional abdominal pain C1609533 phenotype Sign or Symptom T184 Sign or Symptom 4 BXGD013443 Invasive Candidiasis C1609535 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 20 BXGD013444 Latent Tuberculosis C1609538 Z22.7 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 183 BXGD013445 Urethral atresia C1610065 disease Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 23 BXGD013446 Urinary tract inflammation C1610066 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD013447 Circulatory depression C1610069 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD013448 Uhthoff's phenomenon C1610071 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD013449 Graft versus host disease in skin C1610605 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD013450 Burkholderia cepacia Infection C1610617 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD013451 Factor II mutation C1610621 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD013452 Granulomatous infection C1610637 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD013453 Lack of satiety C1611159 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD013454 Thalamic infarction C1611171 disease C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013455 Calcification of coronary artery C1611184 phenotype C18;C14 Nutritional and Metabolic Diseases; Cardiovascular Diseases Pathologic Function HP:0000924;HP:0001626 Abnormality of the skeletal system; Abnormality of the cardiovascular system T046 Pathologic Function 51 BXGD013456 Familial (FPAH) C1611743 disease Disease or Syndrome T047 Disease or Syndrome 1075 BXGD013457 Infection caused by Lassa virus C1617072 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD013458 Nephrogenic Fibrosing Dermopathy C1619692 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD013459 RENAL ADYSPLASIA C1619700 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T019 Congenital Abnormality 29 BXGD013460 Gastrointestinal telangiectasia C1619711 disease Disease or Syndrome HP:0025031;HP:0001574;HP:0001626 Abnormality of the digestive system; Abnormality of the integument; Abnormality of the cardiovascular system T047 Disease or Syndrome 2 BXGD013461 Cystatin C measurement C1619716 phenotype Laboratory Procedure T059 Laboratory Procedure 2 BXGD013462 Decompensated cirrhosis of liver C1619727 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 52 BXGD013463 Gout flare C1619733 M10 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD013464 Immune Reconstitution Inflammatory Syndrome C1619738 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 33 BXGD013465 Lymphoepithelioid lymphoma (clinical) C1621719 C84.4 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 7 BXGD013466 Adrenal hyperplasia C1621895 disease C23;C04;C19 Pathological Conditions, Signs and Symptoms; Neoplasms; Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 33 BXGD013467 Intermediate Maple Syrup Urine Disease C1621920 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD013468 Glioblastoma Multiforme C1621958 disease C04 Neoplasms Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3197 BXGD013469 Meretoja syndrome C1622345 disease C16;C18;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD013470 Suxamethonium sensitivity C1622434 phenotype C23;C16;C18;C08 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases Pathologic Function T046 Pathologic Function 1 BXGD013471 Lentiglobus C1622439 disease Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 1 BXGD013472 Portal cirrhosis C1622502 K74.69 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD013473 Neurocytoma C1622510 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD013474 Adult Diffuse Small Cleaved Cell Lymphoma C1622814 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD013475 Cirrhosis C1623038 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 919 BXGD013476 Electrocardiography C1623258 phenotype Diagnostic Procedure T060 Diagnostic Procedure 8 BXGD013477 Lattice corneal dystrophy Type II C1628319 disease C16;C18;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD013478 Atypical Burkitt's lymphoma C1629504 C83.7 disease C04;C01;C20;C15 Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 2 BXGD013479 Age at menopause C1629609 phenotype Finding T033 Finding 129 BXGD013480 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) C1631597 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 31 BXGD013481 Complicated appendicitis C1632842 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 5 BXGD013482 Macular dystrophy, corneal type 1 C1636149 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 100 BXGD013483 Groenouw corneal dystrophy type I (disorder) C1641846 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD013484 androgen independent prostate cancer C1654637 disease Neoplastic Process T191 Neoplastic Process 190 BXGD013485 Early onset schizophrenia C1656427 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 15 BXGD013486 tumor vasculature C1658953 phenotype Neoplastic Process T191 Neoplastic Process 200 BXGD013487 Complete paraplegia C1659098 G82.21 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD013488 Intraoperative floppy iris syndrome C1688637 H21.81 phenotype C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD013489 Cardiomyopathy associated with another disorder C1689817 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD013490 Lattice corneal dystrophy Type I C1690006 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 11 BXGD013491 Penile hypospadias C1691215 Q54.1 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 127 BXGD013492 Cystic Kidney Diseases C1691228 Q61 group C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 50 BXGD013493 Sensory hearing loss C1691779 H90.5 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD013494 Inflammatory polyarthritis C1692871 disease Disease or Syndrome T047 Disease or Syndrome 13 BXGD013495 Arthritis, Bacterial C1692886 group C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 34 BXGD013496 Non-dipping C1695689 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD013497 Vertebral wedging C1695776 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 8 BXGD013498 Cerebral hypoperfusion C1695782 disease Disease or Syndrome T047 Disease or Syndrome 40 BXGD013499 Lewis-Sumner syndrome C1695985 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD013500 Peritoneal Necrotic Lesion C1696082 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD013501 Remitting seronegative symmetrical synovitis with pitting oedema syndrome C1696153 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD013502 Hepatic calcification C1696466 disease Disease or Syndrome HP:0025031;HP:0000924 Abnormality of the digestive system; Abnormality of the skeletal system T047 Disease or Syndrome 2 BXGD013503 Skin-picking C1696701 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 10 BXGD013504 Prehypertension C1696708 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 41 BXGD013505 Polyomavirus-associated nephropathy C1696946 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 6 BXGD013506 obsolete Prominent epicanthal folds C1697450 disease Congenital Abnormality T019 Congenital Abnormality 2 BXGD013507 Spontaneous hematomas C1697453 disease Disease or Syndrome HP:0001574;HP:0001871;HP:0001626 Abnormality of the integument; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T047 Disease or Syndrome 33 BXGD013508 HIV peripheral neuropathy C1697744 disease C01;C20 Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013509 Psoriatic conditions C1697846 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD013510 BK virus nephropathy C1697878 disease C01 Infections Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 12 BXGD013511 Hypotestosteronism C1697976 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD013512 Malignant Solid Neoplasm C1698088 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD013513 Muscle Weakness Upper Limb C1698196 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 29 BXGD013514 HCV coinfection C1698259 disease Disease or Syndrome T047 Disease or Syndrome 37 BXGD013515 Acute promyelocytic leukaemia differentiation syndrome C1698394 disease Neoplastic Process T191 Neoplastic Process 3 BXGD013516 Eosinophilic bronchitis C1698398 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD013517 Mucosal Infection C1698484 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD013518 Bacterial otitis media C1698510 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD013519 Rokitansky Kuster Hauser syndrome C1698581 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 27 BXGD013520 Small Intestinal Mucositis C1698626 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD013521 Photodamaged skin C1698818 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD013522 HER-2 positive breast cancer C1699634 disease Neoplastic Process T191 Neoplastic Process 18 BXGD013523 EBV viremia C1701919 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD013524 Associated Pulmonary Arterial Hypertension C1701938 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 22 BXGD013525 Familial pulmonary arterial hypertension C1701939 disease Disease or Syndrome T047 Disease or Syndrome 12 BXGD013526 Pneumonia, Ventilator-Associated C1701940 J95.851 disease C23;C01;C08 Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 56 BXGD013527 Embolus C1704212 phenotype C14 Cardiovascular Diseases Finding T033 Finding 1 BXGD013528 Lipogranuloma C1704214 disease C23;C18;C15 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001939;HP:0002715;HP:0025354;HP:0001871 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype; Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 9 BXGD013529 Basaloid carcinoma C1704216 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD013530 Storiform-Pleomorphic Malignant Fibrous Histiocytoma C1704218 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD013531 Dentinogenic Ghost Cell Tumor C1704219 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD013532 Thyroid Gland Adenocarcinoma C1704228 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD013533 Grade I Astrocytoma C1704230 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 35 BXGD013534 Metastatic Malignant Neoplasm to the Leptomeninges C1704231 disease C10 Nervous System Diseases Neoplastic Process T191 Neoplastic Process 25 BXGD013535 Breast Lymphoma C1704251 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD013536 Delusion of persecution C1704268 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD013537 Benign Prostatic Hyperplasia C1704272 N40 disease C12 Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 770 BXGD013538 Endometrial Polyp C1704273 N84.0 disease C23;C04;C13 Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 16 BXGD013539 Intrauterine adhesions C1704274 N85.6 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 24 BXGD013540 Pyomyositis C1704275 disease C01;C05;C10 Infections; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD013541 Pyelonephritis acute necrotizing C1704315 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013542 Leukokeratosis C1704317 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 2 BXGD013543 Glomerulonephritis, Minimal Change C1704320 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD013544 Nephrotic Syndrome, Minimal Change C1704321 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 85 BXGD013545 Paget's Disease of the Nipple C1704323 C50 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD013546 Bone Sarcoma C1704327 group C04;C05 Neoplasms; Musculoskeletal Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 32 BXGD013547 Osteoblastic Osteosarcoma C1704328 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 10 BXGD013548 Dental Diseases C1704330 K08.9 group C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD013549 Enchondroma C1704356 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0000924 Neoplasm; Abnormality of the skeletal system DOID:14566 disease of cellular proliferation T191 Neoplastic Process 41 BXGD013550 Carcinoma of Endocrine Gland C1704374 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 22 BXGD013551 Hypophosphatemic Rickets C1704375 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome HP:0001939;HP:0000924 Abnormality of metabolism/homeostasis; Abnormality of the skeletal system T047 Disease or Syndrome 29 BXGD013552 Uterine Corpus Carcinosarcoma C1704376 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 33 BXGD013553 Bright Disease C1704377 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 31 BXGD013554 Heymann Nephritis C1704378 disease C13;C12;C20 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD013555 Distal Renal Tubular Acidosis C1704380 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T047 Disease or Syndrome 23 BXGD013556 Primary Lung Lymphoma C1704383 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD013557 Hyperlipoproteinemia Type IIb C1704417 E78.2 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 25 BXGD013558 Skin Pigmentation Disorder C1704421 group C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 21 BXGD013559 Milroy Disease C1704423 Q82.0 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 52 BXGD013560 Hereditary lymphedema type II C1704424 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD013561 Hypoalphalipoproteinemia, Familial C1704429 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 18 BXGD013562 Urinary Schistosomiasis C1704430 B65.0 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD013563 Disorder of electrolytes C1704431 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 8 BXGD013564 Peripheral Arterial Diseases C1704436 group C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 319 BXGD013565 Oncocytic Schneiderian papilloma C1704453 disease Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 1 BXGD013566 Thyroid Gland Carcinoma Showing Thymus-Like Differentiation C1704613 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD013567 Hyperparathyroidism-Jaw Tumor Syndrome C1704981 disease C04;C05;C19;C07 Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases; Stomatognathic Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 12 BXGD013568 Neonatal Deformity C1705254 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 23 BXGD013569 Anhydrotic Ectodermal Dysplasias C1706004 Q82.4 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality HP:0001574 Abnormality of the integument DOID:630;DOID:225 genetic disease; syndrome T019 Congenital Abnormality 29 BXGD013570 Sulfatidosis C1706192 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013571 Atopic IgE-mediated allergic disorder C1706410 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD013572 Lipidemias C1706412 phenotype C18 Nutritional and Metabolic Diseases Finding T033 Finding 18 BXGD013573 Primary intraocular non-Hodgkin malignant lymphoma C1706527 disease Neoplastic Process T191 Neoplastic Process 2 BXGD013574 Cornea verticillata C1706559 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 1 BXGD013575 Pachyonychia Congenita, Jadassohn Lewandowsky Type C1706595 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 8 BXGD013576 Adult Extraskeletal Myxoid Chondrosarcoma C1706731 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 23 BXGD013577 Aldosterone-Producing Adrenal Cortex Adenoma C1706762 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD013578 Apocrine Carcinoma C1706827 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 11 BXGD013579 Cancer Other C1707251 disease Neoplastic Process T191 Neoplastic Process 2 BXGD013580 NUT midline carcinoma C1707291 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 33 BXGD013581 Cellular Myxoma C1707332 disease Neoplastic Process T191 Neoplastic Process 1 BXGD013582 Classic medulloblastoma C1707400 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD013583 Colorectal Mucinous Adenocarcinoma C1707439 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD013584 Colorectal Signet Ring Cell Carcinoma C1707440 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD013585 Colorectal Small Cell Neuroendocrine Carcinoma C1707441 disease Neoplastic Process T191 Neoplastic Process 1 BXGD013586 Columnar Cell Change of the Breast C1707444 phenotype Neoplastic Process T191 Neoplastic Process 82 BXGD013587 Columnar Cell Hyperplasia of the Breast C1707446 disease Neoplastic Process T191 Neoplastic Process 38 BXGD013588 Conventional Dermatofibrosarcoma Protuberans C1707508 disease Neoplastic Process T191 Neoplastic Process 2 BXGD013589 Corneal Sensitivity C1707516 phenotype Sign or Symptom T184 Sign or Symptom 8 BXGD013590 Cutaneous Fibrous Histiocytoma, Epithelioid Variant C1707544 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD013591 Primary cutaneous gamma-delta T-cell lymphoma C1707547 disease Neoplastic Process T191 Neoplastic Process 1 BXGD013592 Direct Contact Transmission Infection C1707758 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 13 BXGD013593 Fetal Lung Adenocarcinoma C1708045 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD013594 Gardner Fibroma C1708187 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD013595 HIV lipodystrophy C1708272 disease C18;C01;C17;C20 Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Immune System Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD013596 Heavier Menses C1708341 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD013597 Hereditary Diffuse Gastric Cancer C1708349 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 312 BXGD013598 Hereditary Leiomyomatosis and Renal Cell Cancer C1708350 disease C16;C04;C13;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm T191 Neoplastic Process 61 BXGD013599 Hereditary Paraganglioma-Pheochromocytoma Syndrome C1708353 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome T047 Disease or Syndrome 23 BXGD013600 Histiocytoid Cardiomyopathy C1708371 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 12 BXGD013601 Hydroa vacciniforme-like lymphoma C1708397 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD013602 Indirect Contact Transmission Infection C1708498 phenotype C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD013603 Induced cataract C1708502 disease Disease or Syndrome T047 Disease or Syndrome 13 BXGD013604 Intimal sarcoma C1708550 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 7 BXGD013605 Intraocular Infection C1708554 disease C01;C11 Infections; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD013606 Invasive Cutaneous Melanoma C1708565 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 25 BXGD013607 Invasive Prostate Carcinoma C1708566 disease Neoplastic Process T191 Neoplastic Process 45 BXGD013608 Keratocystic Odontogenic Tumor C1708604 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0000152 Neoplasm; Abnormality of head or neck T191 Neoplastic Process 59 BXGD013609 Low grade appendiceal mucinous neoplasm C1708747 disease Neoplastic Process T191 Neoplastic Process 5 BXGD013610 Low grade myofibroblastic sarcoma C1708751 disease Neoplastic Process T191 Neoplastic Process 7 BXGD013611 Lung Melanoma C1708773 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 12 BXGD013612 mucoepidermoid carcinoma of lung C1708778 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD013613 Sarcomatoid carcinoma of the lung C1708781 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 11 BXGD013614 Lung Lymphoepithelioma-Like Carcinoma C1708792 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD013615 Malignant Proliferating Pilar Tumor C1708903 disease Neoplastic Process T191 Neoplastic Process 1 BXGD013616 Mediastinal Myeloid Sarcoma C1708956 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD013617 Mediastinal Paraganglioma C1708957 disease Neoplastic Process T191 Neoplastic Process 5 BXGD013618 Metastatic Adrenal Gland Pheochromocytoma C1708998 disease Neoplastic Process T191 Neoplastic Process 8 BXGD013619 Mixed Somatotroph and Lactotroph Adenoma C1709052 disease Neoplastic Process T191 Neoplastic Process 2 BXGD013620 Myxoinflammatory fibroblastic sarcoma C1709103 disease Neoplastic Process T191 Neoplastic Process 8 BXGD013621 Desmoplastic Neurotropic Melanoma C1709220 disease Neoplastic Process T191 Neoplastic Process 1 BXGD013622 Non-Neoplastic Disorder C1709246 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 50 BXGD013623 Null Cell Pituitary Gland Adenoma C1709286 disease Neoplastic Process T191 Neoplastic Process 9 BXGD013624 Osteofibrous Dysplasia C1709353 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 25 BXGD013625 Papillary Thyroid Microcarcinoma C1709457 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 46 BXGD013626 B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 C1709527 disease Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues T191 Neoplastic Process 83 BXGD013627 Pleomorphic hyalinizing angiectatic tumor of soft tissue C1709569 disease Neoplastic Process T191 Neoplastic Process 5 BXGD013628 Presymptomatic Cancer C1709650 disease Neoplastic Process T191 Neoplastic Process 1 BXGD013629 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type C1709656 disease Neoplastic Process T191 Neoplastic Process 23 BXGD013630 Primary Focal Segmental Glomerulosclerosis C1709661 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD013631 Prosthetic Valve Thrombosis C1709735 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD013632 Pyloric Gland Adenoma C1709780 disease Neoplastic Process T191 Neoplastic Process 2 BXGD013633 Pyothorax-Associated Lymphoma C1709781 disease Neoplastic Process T191 Neoplastic Process 26 BXGD013634 Sarcomatoid Hepatocellular Carcinoma C1710014 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD013635 Satellite Nodule C1710016 disease Neoplastic Process T191 Neoplastic Process 10 BXGD013636 Sclerosing Epithelioid Fibrosarcoma C1710026 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 16 BXGD013637 Secondary Focal Segmental Glomerulosclerosis C1710040 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD013638 paranasal sinus and nasal cavity cancer C1710095 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 12 BXGD013639 Sinonasal undifferentiated carcinoma C1710096 disease C04;C08;C09 Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process T191 Neoplastic Process 11 BXGD013640 Sparsely Granulated Somatotroph Adenoma C1710140 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD013641 Pleuropulmonary blastoma type III C1710499 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD013642 Pleuropulmonary blastoma type I C1710501 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD013643 Unilateral Breast Carcinoma C1710547 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 7 BXGD013644 Sporadic Gastric Adenocarcinoma C1711192 disease Neoplastic Process T191 Neoplastic Process 1 BXGD013645 carcinosarcoma of lung C1711276 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD013646 Rectosigmoid Adenocarcinoma C1711390 disease Neoplastic Process T191 Neoplastic Process 2 BXGD013647 Recurrent Adult Hepatocellular Carcinoma C1711391 disease Neoplastic Process T191 Neoplastic Process 1 BXGD013648 Emphysema or COPD C1717804 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD013649 Incisional pain C1717947 phenotype Sign or Symptom T184 Sign or Symptom 8 BXGD013650 Refractory cytopenia with multilineage dysplasia (RCMD) C1719306 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD013651 Hereditary amyloid nephropathy C1719313 E85.0 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD013652 Hereditary cardiac amyloidosis C1719315 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD013653 Inherited systemic amyloidosis C1719316 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD013654 Idiopathic transverse myelitis C1719404 disease C04;C01;C20;C10 Neoplasms; Infections; Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD013655 PERIODONTITIS, LOCALIZED AGGRESSIVE C1719494 K05.21 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD013656 Aggressive periodontitis, generalized C1719495 K05.22 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 56 BXGD013657 Generalized chronic periodontitis C1719498 K05.32 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 25 BXGD013658 Other stomatitis and mucositis (ulcerative) C1719528 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD013659 Severe Sepsis C1719672 R65.2 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 181 BXGD013660 Hard drusen C1719777 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD013661 Episodic ataxia type 1 C1719788 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD013662 Peripapillary atrophy C1719838 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 4 BXGD013663 Pressure ulcer stage 4 (disorder) C1719910 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013664 AIDS-related small noncleaved cell lymphoma C1720008 disease C04;C01;C20;C15 Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD013665 Supranuclear gaze palsy C1720037 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 19 BXGD013666 Central corneal thickness C1720164 phenotype Clinical Attribute T201 Clinical Attribute 35 BXGD013667 Confluent drusen C1720180 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD013668 Episodic Ataxia C1720189 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 36 BXGD013669 Retinal pigment epithelium atrophy C1720251 disease Acquired Abnormality T020 Acquired Abnormality 7 BXGD013670 Gonadotropin releasing factor deficiency C1720275 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD013671 Simple ectopia lentis C1720383 disease C11 Eye Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD013672 Episodic ataxia type 2 (disorder) C1720416 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD013673 Papillary carcinoma, clear cell C1720430 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD013674 Soft drusen C1720452 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD013675 Follicular carcinoma, widely invasive C1720470 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD013676 Adult growth hormone deficiency C1720505 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD013677 Follicular carcinoma, clear cell C1720506 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD013678 Allergic disorder C1720649 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD013679 Testicular Hydrocele C1720771 N43.3 disease C12 Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 21 BXGD013680 Renal tubular necrosis C1720775 N17.0 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD013681 Apolipoprotein C-II Deficiency (disorder) C1720779 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD013682 Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency C1720802 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD013683 Tumor of Rete Testis C1720811 disease C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD013684 Endometrial Diseases C1720816 group C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 17 BXGD013685 Membranoproliferative Glomerulonephritis, Type III C1720821 disease C13;C12;C20 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD013686 Sudden Cardiac Arrest C1720824 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function T046 Pathologic Function 27 BXGD013687 Painful Bladder Syndrome C1720830 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 81 BXGD013688 Familial Partial Lipodystrophy, Type 1 C1720859 disease C18;C17 Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD013689 Familial Partial Lipodystrophy, Type 2 C1720860 disease C18;C17 Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 16 BXGD013690 Familial Partial Lipodystrophy, Type 3 C1720861 disease C18;C17 Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 10 BXGD013691 Congenital Generalized Lipodystrophy Type 1 C1720862 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD013692 Congenital Generalized Lipodystrophy Type 2 C1720863 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 9 BXGD013693 Sulfatidosis, Juvenile, Austin Type C1720864 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD013694 Female Urogenital Diseases C1720887 group C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 18 BXGD013695 Hyper-IgM Immunodeficiency Syndrome, Type 2 C1720956 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD013696 Hyper-IgM Immunodeficiency Syndrome, Type 3 C1720957 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD013697 Hyper-IgM Immunodeficiency Syndrome, Type 5 C1720958 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD013698 Channelopathies C1720983 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 94 BXGD013699 Leukokeratosis, Hereditary Mucosal C1721005 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD013700 Keratoderma, Palmoplantar, Epidermolytic C1721006 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD013701 Pachyonychia Congenita, Type 2 (disorder) C1721007 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD013702 Paraneoplastic Opsoclonus-Myoclonus Ataxia C1721017 disease C04;C11;C10 Neoplasms; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD013703 Female Athlete Triad Syndrome C1721053 disease F03 Mental Disorders Disease or Syndrome T047 Disease or Syndrome 2 BXGD013704 Brugada ECG Pattern C1721096 phenotype C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Finding DOID:630;DOID:7 genetic disease; disease of anatomical entity T033 Finding 4 BXGD013705 Replication Error Phenotype C1721098 phenotype C23 Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 15 BXGD013706 Chronic Prostatitis with Chronic Pelvic Pain Syndrome C1723764 disease C12 Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD013707 Acute dystonia C1735368 phenotype Sign or Symptom T184 Sign or Symptom 4 BXGD013708 Acute uveitis C1735373 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD013709 Progressive optic neuropathy C1735375 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD013710 Chronic polyarthritis C1735378 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD013711 Autoimmune inner ear disease C1735590 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD013712 VACTERL Association C1735591 disease C16;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 15 BXGD013713 Intracardiac mass C1735593 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD013714 Paraneoplastic dermatomyositis C1735598 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013715 SLE flare C1735608 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD013716 Progression of adenocarcinoma C1735635 disease Neoplastic Process T191 Neoplastic Process 4 BXGD013717 Migraine with Typical Aura C1735856 G43.1 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD013718 Recurrent deep vein thrombosis C1735901 phenotype C14 Cardiovascular Diseases Pathologic Function HP:0001871 Abnormality of blood and blood-forming tissues T046 Pathologic Function 2 BXGD013719 Acute agranulocytosis C1735902 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD013720 Chronic acidosis C1735903 phenotype C18 Nutritional and Metabolic Diseases Pathologic Function HP:0001939 Abnormality of metabolism/homeostasis T046 Pathologic Function 1 BXGD013721 Recurrent pulmonary embolism C1735914 disease C08;C14 Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD013722 Anti-MAG neuropathy C1736154 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD013723 Secondary hypoparathyroidism C1737223 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013724 Mesangioproliferative glomerulonephritis C1737225 disease Disease or Syndrome T047 Disease or Syndrome 21 BXGD013725 Progression of non-small cell lung cancer C1737250 disease Neoplastic Process T191 Neoplastic Process 151 BXGD013726 Recurrent mycobacterium avium complex infections C1737260 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 2 BXGD013727 Acute myeloid leukaemia progression C1737261 disease Neoplastic Process T191 Neoplastic Process 9 BXGD013728 Dysmorphism C1737329 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 80 BXGD013729 Platelet anisocytosis C1739105 phenotype Pathologic Function T046 Pathologic Function 3 BXGD013730 Latent Autoimmune Diabetes in Adults C1739108 disease C18;C20;C19 Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 39 BXGD013731 Fetus affected by placental transfer of anticonvulsant C1739111 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD013732 Mucocutaneous herpes simplex C1739133 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD013733 Progression of prostate cancer C1739135 disease Neoplastic Process T191 Neoplastic Process 398 BXGD013734 Prostatic Hypertrophy C1739363 N40 disease C12 Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 37 BXGD013735 Chronic iron overload C1739382 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD013736 Angel shaped phalangoepiphyseal dysplasia C1739384 disease C05 Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD013737 Birch pollen allergy C1739388 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD013738 Thin glomerular basement membrane disease C1739392 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD013739 Takotsubo Cardiomyopathy C1739395 I51.81 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 44 BXGD013740 CML progression C1739405 disease Neoplastic Process T191 Neoplastic Process 47 BXGD013741 Acute coagulopathy C1739406 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD013742 Cardiac autonomic neuropathy C1740787 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD013743 Aortic wall hypertrophy C1740794 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD013744 Exaggerated startle response C1740801 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 18 BXGD013745 Slowly progressive insulin dependent diabetes C1740821 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD013746 CLL progression C1740827 disease Neoplastic Process T191 Neoplastic Process 28 BXGD013747 Acute migraine C1740836 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD013748 T-lymphocyte deficiency C1744558 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 25 BXGD013749 Congenital ectodermal dysplasia of face C1744559 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD013750 Atrophy of optic disc C1744705 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013751 Aspiration pneumonitis C1761609 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD013752 Conjunctival hyperemia C1761613 H11.43 phenotype C11 Eye Diseases Finding HP:0000152;HP:0000478;HP:0001626 Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T033 Finding 3 BXGD013753 Meningioma, benign, no ICD-O subtype C1762616 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 404 BXGD013754 RAPP-HODGKIN SYNDROME C1785148 disease C16;C17;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 9 BXGD013755 Idiopathic Pulmonary Fibrosis C1800706 J84.112 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 803 BXGD013756 Opitz-G syndrome, type 2 C1801950 disease C16;C13;C05;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 13 BXGD013757 Congenital muscular hypertrophy-cerebral syndrome C1802395 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 5 BXGD013758 Chromosome 5, trisomy 5q C1802398 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 42 BXGD013759 Increased CSF protein C1806780 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 26 BXGD013760 Familial benign hypercalcemia C1809471 E83.52 disease C16;C18;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 24 BXGD013761 Aortic aneurysm and dissection C1812607 disease Disease or Syndrome T047 Disease or Syndrome 14 BXGD013762 Temperature instability C1820737 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 12 BXGD013763 Feeding intolerance C1820738 phenotype C23 Pathological Conditions, Signs and Symptoms Finding T033 Finding 1 BXGD013764 RESTING HEART RATE C1821417 phenotype Finding T033 Finding 80 BXGD013765 DEAFNESS, AUTOSOMAL RECESSIVE 70 C1824925 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD013766 Allergic fungal sinusitis C1827192 disease C01;C08;C09 Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD013767 Refractory occipital lobe epilepsy C1827284 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013768 Carcinoma of urinary bladder, invasive C1827293 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 287 BXGD013769 Extensively Drug-Resistant Tuberculosis C1827301 phenotype C01 Infections Disease or Syndrome T047 Disease or Syndrome 29 BXGD013770 Slow acetylator due to N-acetyltransferase enzyme variant C1827377 disease Disease or Syndrome T047 Disease or Syndrome 20 BXGD013771 Refractory infantile spasms C1827396 disease C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD013772 Seminoma of testis, stage 1 C1827434 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD013773 Wide spaced nipples C1827524 phenotype Finding HP:0000769 Abnormality of the breast T033 Finding 96 BXGD013774 Disseminated Mycobacterium kansasii infection C1827561 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD013775 Tongue thrusting when swallowing, abnormal persistence beyond early childhood C1827668 phenotype C07 Stomatognathic Diseases Pathologic Function T046 Pathologic Function 3 BXGD013776 Refractory frontal lobe epilepsy C1827691 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD013777 Luxation of lens C1827700 phenotype C11 Eye Diseases Anatomical Abnormality T190 Anatomical Abnormality 7 BXGD013778 Fast acetylator due to N-acetyltransferase enzyme variant C1827820 disease Disease or Syndrome T047 Disease or Syndrome 17 BXGD013779 Enzyme activity finding C1827841 phenotype C23 Pathological Conditions, Signs and Symptoms Finding T033 Finding 1 BXGD013780 IgE-mediated allergic asthma C1827849 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 133 BXGD013781 Upper urinary tract infection C1827894 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD013782 Neurofibroma of subcutaneous tissue C1827970 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process HP:0001574;HP:0000707;HP:0002664 Abnormality of the integument; Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 3 BXGD013783 Barbiturate withdrawal C1827973 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD013784 Ovarian cancer, disseminated C1827996 disease Neoplastic Process T191 Neoplastic Process 2 BXGD013785 Intermittent hyperventilation C1828017 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding HP:0002086 Abnormality of the respiratory system T033 Finding 3 BXGD013786 Non dystrophic myotonia C1828221 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD013787 Acute renal failure due to ischemia C1828256 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD013788 Sinistrocardia C1828378 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD013789 Paraneoplastic encephalitis C1828448 disease C04;C10 Neoplasms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013790 Tongue thrusting C1829460 phenotype F03 Mental Disorders Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD013791 Amino acidemias C1829648 group Disease or Syndrome T047 Disease or Syndrome 1 BXGD013792 Carnitine palmitoyl transferase 1A deficiency C1829703 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD013793 Fatty acid oxidation defects C1829742 group Disease or Syndrome T047 Disease or Syndrome 2 BXGD013794 Phosphaturic Mesenchymal Tumor C1831619 disease Neoplastic Process T191 Neoplastic Process 6 BXGD013795 Adult Subependymal Giant Cell Astrocytoma C1832033 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 14 BXGD013796 Childhood Subependymal Giant Cell Astrocytoma C1832034 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 14 BXGD013797 EPIDERMAL DIFFERENTIATION COMPLEX C1832097 disease Disease or Syndrome T047 Disease or Syndrome 38 BXGD013798 Short humerus C1832117 phenotype Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 24 BXGD013799 Fibular hypoplasia C1832119 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 16 BXGD013800 Square face C1832127 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 8 BXGD013801 Pursed lips C1832130 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 3 BXGD013802 Metaphyseal rarefaction C1832146 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD013803 Abnormality of temperature regulation C1832160 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 19 BXGD013804 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY C1832162 disease C11;C17 Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD013805 Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism C1832167 disease C16;C11;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013806 BLOOD GROUP--FROESE C1832168 phenotype Finding T033 Finding 1 BXGD013807 DOYNE HONEYCOMB RETINAL DYSTROPHY C1832174 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD013808 Cataract, Congenital, Cerulean Type, 2 C1832175 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD013809 Deafness, Autosomal Dominant 12 C1832187 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD013810 Peroxisome biogenesis disorders C1832200 E71.51 group C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 41 BXGD013811 Rieger syndrome 2 (disorder) C1832229 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD013812 Peroxisome Biogenesis Disorder, Complementation Group C C1832232 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 8 BXGD013813 Agammaglobulinemia, non-Bruton type C1832241 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD013814 CARDIOMYOPATHY, DILATED, 1D (disorder) C1832243 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD013815 CARDIOMYOPATHY, DILATED, 1C (disorder) C1832244 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD013816 OBESITY, MODIFIER OF C1832250 phenotype Finding T033 Finding 1 BXGD013817 BODY MASS INDEX, MODIFIER OF C1832251 phenotype Finding T033 Finding 1 BXGD013818 INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY, MODIFIER OF C1832253 phenotype Finding T033 Finding 1 BXGD013819 Ribbing disease C1832273 disease C16;C04;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013820 Charcot-Marie-Tooth disease, Type 2D C1832274 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD013821 Thenar muscle weakness C1832276 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 3 BXGD013822 First dorsal interossei muscle weakness C1832277 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 3 BXGD013823 First dorsal interossei muscle atrophy C1832278 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 3 BXGD013824 Cold-induced hand cramps C1832279 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 3 BXGD013825 INFLAMMATORY BOWEL DISEASE 2 C1832321 disease C06 Digestive System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD013826 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive C1832322 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD013827 Failure to thrive secondary to recurrent infections C1832323 phenotype Finding HP:0002715;HP:0001507 Abnormality of the immune system; Growth abnormality T033 Finding 7 BXGD013828 Recurrent opportunistic infections C1832324 phenotype C01 Infections Finding HP:0002715 Abnormality of the immune system T033 Finding 10 BXGD013829 Axonal loss C1832338 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 16 BXGD013830 Talipes cavus equinovarus C1832342 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality HP:0040064 Abnormality of limbs T190 Anatomical Abnormality 4 BXGD013831 Slow-growing hair C1832348 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 35 BXGD013832 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED C1832370 disease C16;C05;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 20 BXGD013833 Retinitis Pigmentosa 18 C1832378 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD013834 Diabetes Mellitus, Transient Neonatal, 1 C1832386 disease C16;C18;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 12 BXGD013835 Platelet Disorder, Familial, with Associated Myeloid Malignancy C1832388 disease C16;C04;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD013836 Van Maldergem Wetzburger Verloes syndrome C1832390 disease C23;C16;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 4 BXGD013837 DIABETES MELLITUS, INSULIN-DEPENDENT, 12 C1832392 disease C18;C20;C19 Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 2 BXGD013838 Deafness, Autosomal Recessive 12 C1832394 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD013839 Charcot-Marie-Tooth disease, Type 4B1 C1832399 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD013840 Crisponi syndrome C1832409 disease C23;C16;C17;C05;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 6 BXGD013841 Cataract, Age-Related Nuclear C1832423 H25.1 phenotype C11 Eye Diseases Pathologic Function HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T046 Pathologic Function 4 BXGD013842 Deafness, Autosomal Dominant 9 C1832425 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD013843 MICROPHTHALMIA, SYNDROMIC 8 C1832440 disease C16;C11;C05;C10;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013844 Sparse eyebrow C1832446 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 31 BXGD013845 Cranial hyperostosis C1832451 phenotype C05 Musculoskeletal Diseases Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 10 BXGD013846 Atrophia Maculosa Varioliformis Cutis, Familial C1832465 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013847 CAPOS syndrome C1832466 disease C23;C16;C11;C05;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD013848 Renal dysplasia diffuse cystic C1832471 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013849 Deafness, Autosomal Dominant 11 C1832475 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD013850 Limb-girdle muscular dystrophy type 2F C1832525 disease C16;C05;C08;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD013851 CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT C1832526 disease C11 Eye Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD013852 HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION C1832529 disease C08;C14 Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD013853 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C C1832567 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD013854 DERMATITIS HERPETIFORMIS, FAMILIAL C1832586 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD013855 POLYPOSIS SYNDROME, HEREDITARY MIXED, 1 C1832587 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome T047 Disease or Syndrome 4 BXGD013856 Chromosome 11p11.2 Deletion Syndrome C1832588 disease C23;C16;C04;C05 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 65 BXGD013857 Neuronal Intestinal Dysplasia, Type B C1832589 disease C06;C10 Digestive System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD013858 Craniosynostosis, Philadelphia Type C1832590 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD013859 Herniation of intervertebral nuclei C1832597 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD013860 Narrow vertebral interpedicular distance C1832598 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 6 BXGD013861 Naxos disease C1832600 disease C16;C17;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD013862 Anterior polar cataract 2 C1832609 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD013863 Hypocalcemia, Autosomal Dominant, with Bartter Syndrome C1832612 disease C18;C13;C12;C19 Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013864 HYPERPARATHYROIDISM, NEONATAL SEVERE C1832615 disease C16;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD013865 Hypoparathyroidism familial isolated C1832648 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD013866 ANOPHTHALMIA AND PULMONARY HYPOPLASIA C1832661 disease C16;C11;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1410 BXGD013867 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO C1832662 phenotype Finding T033 Finding 9 BXGD013868 SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) C1832669 disease C23;C16;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD013869 Dysfunction of lateral corticospinal tracts C1832671 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD013870 CARDIOMYOPATHY, DILATED, 1E C1832680 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD013871 BRACHYDACTYLY, TYPE A2 C1832702 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 6 BXGD013872 MULTIPLE SYNOSTOSES SYNDROME 2 C1832708 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD013873 Rhabdomyolysis, Cerivastatin-Induced C1832733 phenotype C05 Musculoskeletal Diseases Pathologic Function T046 Pathologic Function 1 BXGD013874 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id C1832736 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD013875 Hypertrophic nerve changes C1832776 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 6 BXGD013876 Deafness, Autosomal Recessive 9 C1832828 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD013877 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 C1832841 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD013878 USHER SYNDROME, TYPE ID C1832845 disease C23;C16;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 8 BXGD013879 CHOREOATHETOSIS/SPASTICITY, EPISODIC C1832855 disease C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD013880 Hemiplegic migraine, familial type 1 C1832884 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD013881 MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA C1832885 disease Finding T033 Finding 1 BXGD013882 MIGRAINE, SPORADIC HEMIPLEGIC C1832903 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD013883 Timothy syndrome C1832916 disease C23;C16;C05;F03;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 32 BXGD013884 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder) C1832926 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD013885 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 C1832931 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD013886 DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder) C1832932 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD013887 JUVENILE POLYPOSIS OF STOMACH C1832940 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD013888 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) C1832942 disease C16;C06;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013889 Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies C1832950 disease C16;C05;C10;C07;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013890 Cone-Rod Dystrophy 5 C1832976 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD013891 GLAUCOMA 3, PRIMARY INFANTILE, B C1832977 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD013892 Absent or minimally ossified vertebral bodies C1832983 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 9 BXGD013893 Metaphyseal spurs C1832988 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 4 BXGD013894 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC C1833030 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD013895 DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES C1833102 disease C23;C18;C10;C19 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD013896 DIABETES MELLITUS, PERMANENT NEONATAL C1833104 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 20 BXGD013897 Cataract, Pulverulent C1833118 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 12 BXGD013898 Slender long bone C1833144 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 35 BXGD013899 Long Qt Syndrome 4 C1833154 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013900 Hyperferritinemia, hereditary, with congenital cataracts C1833213 disease C18;C11 Nutritional and Metabolic Diseases; Eye Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 10 BXGD013901 DIABETES MELLITUS, INSULIN-DEPENDENT, 8 C1833218 disease C18;C20;C19 Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 2 BXGD013902 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) C1833219 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD013903 Autoamputation C1833222 phenotype Finding HP:0040064 Abnormality of limbs T033 Finding 2 BXGD013904 Dystrophic toenail C1833225 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 18 BXGD013905 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) C1833236 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD013906 Retinitis Pigmentosa 17 C1833245 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD013907 SCHIZOPHRENIA 4 (disorder) C1833247 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD013908 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative C1833275 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD013909 FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED C1833296 disease C18;C10;F03 Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:7;DOID:150 disease of anatomical entity; disease of mental health T047 Disease or Syndrome 6 BXGD013910 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V C1833308 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 12 BXGD013911 Rickets of the lower limbs C1833323 phenotype C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD013912 Sparse bone trabeculae C1833324 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 5 BXGD013913 Thin bony cortex C1833325 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 14 BXGD013914 Generalized bone demineralization C1833326 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD013915 Enlarged epiphyses C1833328 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 5 BXGD013916 Bulging epiphyses C1833329 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 5 BXGD013917 Increased serum 1,25-dihydroxyvitamin D3 C1833331 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 3 BXGD013918 Synostotic Posterior Plagiocephaly C1833340 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T047 Disease or Syndrome 25 BXGD013919 Sleep-wake cycle disturbance C1833362 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 10 BXGD013920 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III C1833372 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD013921 Inclusion Body Myopathy, Autosomal Recessive C1833373 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013922 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder) C1833382 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD013923 D-2-hydroxyglutaric aciduria C1833429 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T047 Disease or Syndrome 5 BXGD013924 Subependymal cysts C1833431 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD013925 Multifocal cerebral white matter abnormalities C1833434 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0000707 Abnormality of the nervous system T033 Finding 10 BXGD013926 Proximal Myopathy with Focal Depletion of Mitochondria C1833453 disease C18;C05;C10 Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013927 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 C1833477 disease C16;C06;C04;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 2 BXGD013928 Varicella, Severe Recurrent C1833487 disease C01 Infections Disease or Syndrome HP:0002715 Abnormality of the immune system T047 Disease or Syndrome 2 BXGD013929 Deafness, Autosomal Dominant 4 C1833503 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD013930 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET C1833508 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD013931 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE C1833511 disease C16;C06;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD013932 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL C1833518 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD013933 OROFACIAL CLEFT 7 C1833538 disease C16;C17;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD013934 UV-Sensitive Syndrome C1833561 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 15 BXGD013935 PAROXYSMAL EXTREME PAIN DISORDER C1833661 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 13 BXGD013936 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA C1833662 disease C16;C18;C05;C10;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 34 BXGD013937 Elevated alkaline phosphatase of bone origin C1833667 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 7 BXGD013938 NEPHROLITHIASIS, CALCIUM OXALATE C1833683 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 33 BXGD013939 Carpal osteolysis C1833734 phenotype Pathologic Function HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T046 Pathologic Function 3 BXGD013940 Osteolysis involving tarsal bones C1833735 phenotype Pathologic Function HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T046 Pathologic Function 3 BXGD013941 Osteogenesis imperfecta, Levin type C1833736 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD013942 Diaphyseal cortical sclerosis C1833739 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD013943 Biconcave flattened vertebrae C1833753 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD013944 Femoral bowing present at birth, straightening with time C1833754 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD013945 Decreased calvarial ossification C1833762 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 10 BXGD013946 Familial medullary thyroid carcinoma C1833921 disease C16;C04;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:630;DOID:7;DOID:14566 genetic disease; disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 56 BXGD013947 THYROID CARCINOMA, SPORADIC MEDULLARY C1833929 disease Neoplastic Process T191 Neoplastic Process 22 BXGD013948 COLORECTAL CANCER, SOMATIC C1833970 disease Neoplastic Process T191 Neoplastic Process 3 BXGD013949 Oculopharyngodistal Myopathy C1834014 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD013950 Progressive ptosis C1834015 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 2 BXGD013951 Aplasia/Hypoplasia of the middle phalanx of the 5th finger C1834034 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 5 BXGD013952 Schilbach-Rott Syndrome C1834038 disease C16;C13;C05;C12;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013953 Underdeveloped nasal alae C1834055 phenotype Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 79 BXGD013954 Short middle phalanx of the 5th finger C1834060 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 17 BXGD013955 NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder) C1834120 disease C23;C16;C17;C05;C07;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD013956 Shield chest C1834124 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 12 BXGD013957 Abnormal vertebral morphology C1834129 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 28 BXGD013958 Sick Sinus Syndrome 2, Autosomal Dominant C1834144 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD013959 HYPERTENSION, RESISTANT TO CONVENTIONAL THERAPY C1834155 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013960 MYELOKATHEXIS, ISOLATED C1834176 disease Finding T033 Finding 1 BXGD013961 Ceroid Lipofuscinosis, Neuronal, Parry Type C1834207 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD013962 NEUROFIBROMATOSIS, FAMILIAL SPINAL C1834235 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD013963 Symmetric spinal nerve root neurofibromas C1834236 disease Neoplastic Process HP:0001574;HP:0000707;HP:0002664 Abnormality of the integument; Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 1 BXGD013964 Inguinal freckling C1834297 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD013965 AMYOTROPHY, HEREDITARY NEURALGIC C1834304 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD013966 RETINITIS PIGMENTOSA 27 C1834329 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD013967 Myopathy, Actin, Congenital, with Excess of Thin Myofilaments C1834339 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 3 BXGD013968 Periosteal thickening of long tubular bones C1834345 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD013969 Narcolepsy 1 C1834372 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 4 BXGD013970 Nail dysplasia C1834405 disease C23 Pathological Conditions, Signs and Symptoms Congenital Abnormality HP:0001574 Abnormality of the integument T019 Congenital Abnormality 78 BXGD013971 Myxoid subcutaneous tumors C1834421 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm T191 Neoplastic Process 1 BXGD013972 Profuse pigmented skin lesions C1834424 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 2 BXGD013973 Obsessive-compulsive trait C1834433 phenotype F01 Behavior and Behavior Mechanisms Finding HP:0000707 Abnormality of the nervous system T033 Finding 18 BXGD013974 MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS C1834478 disease C23;C10;C09;C15 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD013975 CARDIOMYOPATHY, DILATED, 1S C1834481 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD013976 ARTHROGRYPOSIS, DISTAL, TYPE 2B C1834523 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 25 BXGD013977 Weakness of the intrinsic hand muscles C1834536 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 21 BXGD013978 Myopathy, Centronuclear, Autosomal Dominant C1834558 G71.228 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 16 BXGD013979 Continuous Muscle Fiber Activity, Hereditary C1834559 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD013980 Jankovic Rivera syndrome C1834569 disease C23;C16;C05;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD013981 Myoclonic dystonia C1834570 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 19 BXGD013982 MYELOPROLIFERATIVE SYNDROME, TRANSIENT C1834582 disease C16;C10;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 105 BXGD013983 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) C1834653 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD013984 Nasal, dysarthic speech C1834664 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 6 BXGD013985 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B C1834671 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD013986 Facioscapulohumeral muscular dystrophy 1a C1834673 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD013987 BETHLEM MYOPATHY 1 C1834674 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 17 BXGD013988 Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant C1834690 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD013989 Hyporeflexia of lower limbs C1834696 phenotype Finding HP:0000707;HP:0040064 Abnormality of the nervous system; Abnormality of limbs T033 Finding 19 BXGD013990 Neuropathy, Distal Hereditary Motor, Type VIIA C1834703 disease C23;C16;C08;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD013991 CEREBELLOPARENCHYMAL DISORDER VI C1834711 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD013992 Cerebellar Granule Cell Hypertrophy and Megalencephaly C1834712 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD013993 Malignant genitourinary tract tumor C1834728 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm T191 Neoplastic Process 3 BXGD013994 Cutaneous syndactyly of toes C1834737 disease Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 5 BXGD013995 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding) C1834752 disease Finding T033 Finding 10 BXGD013996 MYXOMATOUS MITRAL VALVE PROLAPSE 1 C1834819 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD013997 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 C1834846 disease C23;C18;C11;C10 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD013998 MIRROR MOVEMENTS 1 C1834870 phenotype Finding T033 Finding 2 BXGD013999 Fusion of the left and right thalami C1834930 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD014000 Cystic renal dysplasia C1834931 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 12 BXGD014001 Lumbar kyphoscoliosis C1834953 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD014002 Coronal cleft vertebrae C1834954 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 11 BXGD014003 Flattened, squared-off epiphyses of tubular bones C1834961 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD014004 Irregular acetabular roof C1834975 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD014005 Metaphyseal cupping of proximal phalanges C1834980 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD014006 Prominent supraorbital arches in adult C1834993 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 1 BXGD014007 Melanosis, Universal C1835039 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014008 MELANOMA, CUTANEOUS MALIGNANT, 1 C1835047 disease Finding T033 Finding 1 BXGD014009 OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF C1835054 phenotype Finding T033 Finding 2 BXGD014010 Masticatory Muscles, Hypertrophy of C1835093 disease C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD014011 Macrodontia of permanent maxillary central incisor C1835095 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 8 BXGD014012 Increased axial length of the globe C1835117 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 4 BXGD014013 Premature osteoarthritis C1835121 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 8 BXGD014014 Premature calcification of mitral annulus C1835130 phenotype Finding HP:0000924;HP:0001626 Abnormality of the skeletal system; Abnormality of the cardiovascular system T033 Finding 1 BXGD014015 Hypomagnesemia 2, renal C1835171 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 10 BXGD014016 MACULAR DYSTROPHY, ATYPICAL VITELLIFORM C1835178 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD014017 MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1 C1835192 disease Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 1 BXGD014018 Thick corpus callosum C1835194 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD014019 PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO (finding) C1835223 disease Finding T033 Finding 2 BXGD014020 Predominantly lower limb lymphedema C1835228 phenotype C15 Hemic and Lymphatic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 6 BXGD014021 Hyperkeratosis over edematous areas C1835253 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001939;HP:0001574 Abnormality of metabolism/homeostasis; Abnormality of the integument T033 Finding 1 BXGD014022 Lymphedema, microcephaly and chorioretinopathy syndrome C1835265 disease C23;C16;C11;C05;C10;C15 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 7 BXGD014023 Labial pseudohypertrophy C1835380 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 1 BXGD014024 Loss of truncal subcutaneous adipose tissue C1835384 phenotype Finding HP:0003549 Abnormality of connective tissue T033 Finding 3 BXGD014025 Increased intramuscular fat C1835389 phenotype Finding HP:0003549;HP:0003011 Abnormality of connective tissue; Abnormality of the musculature T033 Finding 1 BXGD014026 Increased intraabdominal fat C1835390 phenotype Finding HP:0003549 Abnormality of connective tissue T033 Finding 3 BXGD014027 LI-FRAUMENI SYNDROME 1 C1835398 disease C16;C04;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014028 HEPATITIS C VIRUS, SUSCEPTIBILITY TO C1835407 disease Finding T033 Finding 1 BXGD014029 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type C1835437 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD014030 Decreased cranial base ossification C1835442 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 1 BXGD014031 Disc-like vertebral bodies C1835444 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD014032 Severe limb shortening C1835446 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD014033 Diaphyseal thickening C1835473 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 14 BXGD014034 Hypoplastic cervical vertebrae C1835570 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 5 BXGD014035 Multiple carpal ossification centers C1835573 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD014036 Bipartite calcaneus C1835574 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD014037 Mild postnatal growth retardation C1835580 phenotype Finding HP:0001507 Growth abnormality T033 Finding 6 BXGD014038 Aplastic/hypoplastic lacrimal glands C1835602 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 1 BXGD014039 Hereditary Hyperexplexia C1835614 disease C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD014040 TYLOSIS WITH ESOPHAGEAL CANCER C1835664 disease C16;C06;C04;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 5 BXGD014041 Keratoderma palmoplantar spastic paralysis C1835671 disease C16;C17;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD014042 Palmoplantar Keratoderma with Deafness C1835672 disease C23;C16;C17;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD014043 Recurrent bacterial skin infections C1835686 phenotype Finding HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T033 Finding 13 BXGD014044 Keratitis Fugax Hereditaria C1835697 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014045 CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO (finding) C1835713 disease Finding T033 Finding 2 BXGD014046 Widely-spaced maxillary central incisors C1835762 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 7 BXGD014047 Vertebral arch anomaly C1835764 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD014048 Crossed fused renal ectopia C1835796 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 10 BXGD014049 Anoperineal fistula C1835798 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding HP:0025031;HP:0000119 Abnormality of the digestive system; Abnormality of the genitourinary system T033 Finding 2 BXGD014050 Eversion of lateral third of lower eyelids C1835801 phenotype C11 Eye Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 6 BXGD014051 Prominent fingertip pads C1835807 phenotype Finding HP:0001574;HP:0040064;HP:0000924 Abnormality of the integument; Abnormality of limbs; Abnormality of the skeletal system T033 Finding 16 BXGD014052 Kallikrein, Decreased Urinary Activity of C1835808 phenotype C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Finding T033 Finding 1 BXGD014053 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency C1835813 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014054 FANCONI ANEMIA, COMPLEMENTATION GROUP N C1835817 disease C16;C18;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD014055 PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) C1835819 disease C16;C05;C10;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225;DOID:0080015 genetic disease; disease of anatomical entity; syndrome; physical disorder T047 Disease or Syndrome 1 BXGD014056 HOLOPROSENCEPHALY 7 C1835820 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225;DOID:0080015 genetic disease; disease of anatomical entity; syndrome; physical disorder T047 Disease or Syndrome 1 BXGD014057 Renal Hypodysplasia, Nonsyndromic, 1 C1835826 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 1 BXGD014058 Invasive Pneumococcal Disease, Recurrent Isolated, 1 C1835828 disease C01;C20 Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD014059 Ichthyosis with hypotrichosis, autosomal recessive C1835851 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014060 DEAFNESS, AUTOSOMAL RECESSIVE 68 C1835854 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD014061 Triangular face C1835884 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 111 BXGD014062 DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder) C1835887 disease C16;C18;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 1 BXGD014063 RETINITIS PIGMENTOSA 33 (disorder) C1835895 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD014064 SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder) C1835896 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014065 Retinal Cone Dystrophy 3B C1835897 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD014066 Epilepsy, Nocturnal Frontal Lobe, Type 4 C1835905 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD014067 Aminoacylase 1 deficiency C1835922 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD014068 Loss of ability to walk in early childhood C1835993 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD014069 Facial diplegia C1836003 phenotype C01;C10;C07 Infections; Nervous System Diseases; Stomatognathic Diseases Finding HP:0000707;HP:0000152;HP:0003011 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculature T033 Finding 42 BXGD014070 Drug Metabolism, Poor, CYP2C19-Related C1836023 phenotype C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014071 Deafness, Autosomal Recessive 23 C1836027 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014072 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome C1836033 disease C16;C17;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD014073 Poor head control C1836038 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 162 BXGD014074 Long face C1836047 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 182 BXGD014075 Filaminopathy, autosomal dominant C1836050 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014076 Muscle fiber splitting C1836057 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 13 BXGD014077 Stickler Syndrome, Type I, Nonsyndromic Ocular C1836080 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014078 RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT C1836081 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014079 LEFT VENTRICULAR NONCOMPACTION 2 C1836118 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD014080 SARCOIDOSIS, EARLY-ONSET C1836122 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014081 Axial dystonia C1836149 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 6 BXGD014082 Gait imbalance C1836150 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 57 BXGD014083 Frontolimbic dementia C1836151 phenotype C10;F03 Nervous System Diseases; Mental Disorders Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD014084 Myopathy, Myofibrillar, Zasp-Related C1836155 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014085 Progressive proximal muscle weakness C1836156 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 28 BXGD014086 Generalized Epilepsy and Paroxysmal Dyskinesia C1836173 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD014087 Chondrodysplasia, acromesomelic, with genital anomalies C1836182 disease C16;C13;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014088 Short femoral neck C1836184 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 31 BXGD014089 Fibular aplasia C1836186 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 9 BXGD014090 Widened proximal tibial metaphyses C1836187 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD014091 Radial deviation of finger C1836189 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 42 BXGD014092 Aplasia/Hypoplasia involving the metacarpal bones C1836192 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 7 BXGD014093 Synostosis of carpal bones C1836193 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 23 BXGD014094 Short toe C1836195 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 56 BXGD014095 DEAFNESS, AUTOSOMAL RECESSIVE 48 C1836199 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD014096 Proximal/middle symphalangism of 5th finger C1836212 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD014097 Tukel syndrome C1836217 disease C23;C16;C11;C05;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD014098 Carpal bone aplasia C1836219 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD014099 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO C1836230 disease Finding T033 Finding 149 BXGD014100 HIV-1, RESISTANCE TO C1836231 phenotype Finding T033 Finding 147 BXGD014101 ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO C1836232 phenotype Finding T033 Finding 147 BXGD014102 AIDS, PROGRESSION TO C1836233 phenotype Finding T033 Finding 147 BXGD014103 Congenital bilateral ptosis C1836264 disease Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 4 BXGD014104 Epidermolysis Bullosa Simplex with Migratory Circinate Erythema C1836284 disease C23;C16;C17 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD014105 Muscle Weakness Lower Limb C1836296 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 74 BXGD014106 Carotid Intimal Medial Thickness 1 C1836302 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014107 Generalized joint laxity C1836308 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 44 BXGD014108 Proximal femoral metaphyseal irregularity C1836320 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 7 BXGD014109 ERYTHROKERATODERMIA VARIABILIS 3 (disorder) C1836330 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 3 BXGD014110 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K C1836373 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD014111 Dysmetric saccades C1836392 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 18 BXGD014112 Abnormality of ocular smooth pursuit C1836393 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 5 BXGD014113 SPINOCEREBELLAR ATAXIA 26 C1836395 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014114 Familial neurocardiogenic syncope C1836438 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD014115 Increased serum lactate C1836440 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 169 BXGD014116 Nemaline myopathy 1 C1836448 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014117 Distal lower limb muscle weakness C1836450 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 49 BXGD014118 Distal lower limb amyotrophy C1836451 disease Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 29 BXGD014119 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 C1836460 disease C23;C18;C11;C05;C10 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014120 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 C1836474 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014121 Saccadic smooth pursuit C1836479 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 22 BXGD014122 Li-Fraumeni Syndrome 2 C1836482 disease C16;C04;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD014123 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder) C1836485 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014124 Generalized tonic seizures C1836508 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 30 BXGD014125 Schindler Disease, Type II C1836522 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014126 White mater abnormalities in the posterior periventricular region C1836525 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD014127 Distal sensory impairment of all modalities C1836527 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 9 BXGD014128 Increased urinary O-linked sialopeptides C1836533 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 2 BXGD014129 Depressed nasal bridge C1836542 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 426 BXGD014130 Thick vermilion border C1836543 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 95 BXGD014131 Schindler Disease, Type I C1836544 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014132 Schindler Disease, Type III C1836545 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014133 GRISCELLI SYNDROME, TYPE 3 C1836573 disease C23;C16;C18;C17 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD014134 Silver-gray hair C1836576 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 4 BXGD014135 Decreased hip abduction C1836589 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 5 BXGD014136 Macrocephaly at birth C1836599 phenotype C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 12 BXGD014137 Bruck syndrome 2 C1836602 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 2 BXGD014138 Progressive distal muscle weakness C1836609 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 14 BXGD014139 Decreased circulating cortisol level C1836623 phenotype C20;C19 Immune System Diseases; Endocrine System Diseases Finding HP:0000818 Abnormality of the endocrine system T033 Finding 23 BXGD014140 Loeys-Dietz Aortic Aneurysm Syndrome C1836635 disease C16;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD014141 Dermal translucency C1836646 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 10 BXGD014142 Generalized arterial tortuosity C1836651 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 4 BXGD014143 Ascending aortic dissection C1836653 phenotype C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 25 BXGD014144 Total Hypotrichosis, Mari type C1836672 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 27 BXGD014145 Short distal phalanx of the 5th finger C1836674 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 6 BXGD014146 Abnormality of the middle ear ossicles C1836678 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 5 BXGD014147 Erythrokeratoderma, Reticular C1836681 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD014148 Czech dysplasia, metatarsal type C1836683 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD014149 Narrow iliac wings C1836688 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 8 BXGD014150 Striatal Degeneration, Autosomal Dominant C1836694 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 2 BXGD014151 Lower limb hyperreflexia C1836696 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 38 BXGD014152 Pseudohyperkalemia, Familial, 2, due to Red Cell Leak C1836705 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014153 Hyperthyroidism, Nonautoimmune C1836706 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD014154 Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum C1836723 disease C16;C05;C26 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 1 BXGD014155 hypopigmented skin patch C1836735 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 123 BXGD014156 White eyelashes C1836736 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 8 BXGD014157 White eyebrow C1836737 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 7 BXGD014158 Abnormal speech discrimination C1836752 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 2 BXGD014159 Proximal lower limb amyotrophy C1836767 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 15 BXGD014160 Tortuous cerebral arteries C1836791 phenotype Finding HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system T033 Finding 2 BXGD014161 Combined Oxidative Phosphorylation Deficiency 1 C1836797 disease C16;C06;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD014162 Mild microcephaly C1836806 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 12 BXGD014163 Amish Infantile Epilepsy Syndrome C1836824 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD014164 Developmental stagnation at onset of seizures C1836829 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD014165 Developmental regression C1836830 disease F03 Mental Disorders Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 333 BXGD014166 Hyporeflexia of upper limbs C1836835 phenotype Finding HP:0000707;HP:0040064 Abnormality of the nervous system; Abnormality of limbs T033 Finding 5 BXGD014167 Psychomotor deterioration C1836842 phenotype F03 Mental Disorders Finding HP:0000707 Abnormality of the nervous system T033 Finding 13 BXGD014168 Progressive inability to walk C1836843 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 10 BXGD014169 Curvilinear intracellular accumulation of autofluorescent lipopigment storage material C1836852 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 6 BXGD014170 Vacuolated lymphocytes C1836855 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 8 BXGD014171 FANCONI ANEMIA, COMPLEMENTATION GROUP J C1836860 disease C16;C18;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD014172 FANCONI ANEMIA, COMPLEMENTATION GROUP I C1836861 disease C16;C18;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD014173 Broad ischia C1836868 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD014174 Pierson syndrome C1836876 disease C23;C16;C13;C11;C12;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 7 BXGD014175 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 C1836892 disease Finding T033 Finding 1 BXGD014176 Spastic/hyperactive bladder C1836904 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 10 BXGD014177 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 C1836906 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD014178 Gastrointestinal dysmotility C1836923 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 28 BXGD014179 Bone spicule pigmentation of the retina C1836926 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 24 BXGD014180 Emanuel syndrome C1836929 disease C23;C16;C05;C10;F03;C07;F01;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD014181 Low-set nipples C1836933 phenotype Finding HP:0000769 Abnormality of the breast T033 Finding 9 BXGD014182 Thickened nuchal skin fold C1836940 phenotype Finding HP:0001197;HP:0000152 Abnormality of prenatal development or birth; Abnormality of head or neck T033 Finding 58 BXGD014183 Disproportionate tall stature C1836996 phenotype Finding HP:0001507 Growth abnormality T033 Finding 30 BXGD014184 Atrial Fibrillation, Familial, 3 C1837014 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD014185 CATARACT, CONGENITAL, CERULEAN TYPE, 3 C1837023 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014186 MEACHAM SYNDROME (disorder) C1837026 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014187 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive C1837028 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD014188 Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 C1837029 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD014189 CD8 Deficiency, Familial C1837065 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014190 Recurrent viral infection C1837066 phenotype C01 Infections Finding HP:0002715 Abnormality of the immune system T033 Finding 32 BXGD014191 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy C1837073 disease C16;C11;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD014192 Hypoplastic inferior ilia C1837078 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD014193 Tibial bowing C1837081 phenotype C05 Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 25 BXGD014194 Metaphyseal cupping C1837082 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 13 BXGD014195 Short metacarpal C1837084 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 66 BXGD014196 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY C1837091 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD014197 Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency C1837092 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD014198 Easy fatigability C1837098 phenotype Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 74 BXGD014199 Decreased muscle mass C1837108 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 65 BXGD014200 Myasthenic Syndrome, Congenital, Fast-Channel C1837122 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD014201 Poor suck C1837142 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 103 BXGD014202 MYOPIA 6 (disorder) C1837148 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD014203 Drug Metabolism, Poor, CYP2D6-Related C1837154 phenotype C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014204 Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly C1837206 disease C23;C06;C18;C11;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD014205 OROFACIAL CLEFT 5 C1837210 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:225;DOID:0080015 syndrome; physical disorder T047 Disease or Syndrome 2 BXGD014206 Cleft lip, isolated C1837217 disease Congenital Abnormality T019 Congenital Abnormality 20 BXGD014207 Cleft palate, isolated C1837218 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality DOID:225;DOID:0080015 syndrome; physical disorder T019 Congenital Abnormality 295 BXGD014208 Intracerebral periventricular calcifications C1837246 phenotype Finding HP:0000707;HP:0000924 Abnormality of the nervous system; Abnormality of the skeletal system T033 Finding 5 BXGD014209 Antenatal intracerebral hemorrhage C1837247 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function HP:0000707;HP:0001871;HP:0001626 Abnormality of the nervous system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T046 Pathologic Function 2 BXGD014210 Malformations of Cortical Development, Group II C1837249 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 180 BXGD014211 Basal ganglia cysts C1837251 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 6 BXGD014212 Macrovesicular hepatic steatosis C1837256 phenotype C06 Digestive System Diseases Finding HP:0025031 Abnormality of the digestive system T033 Finding 9 BXGD014213 Lipid accumulation in hepatocytes C1837257 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 1 BXGD014214 Prominent forehead C1837260 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 159 BXGD014215 Increased muscle lipid content C1837262 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 14 BXGD014216 Long-chain dicarboxylic aciduria C1837273 disease Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T047 Disease or Syndrome 1 BXGD014217 Hypoplastic toenails C1837279 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 42 BXGD014218 COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 C1837315 disease Finding T033 Finding 166 BXGD014219 Alpha-B Crystallinopathy C1837317 disease C11;C05;C10;C14 Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014220 Decreased Achilles reflex C1837323 phenotype Finding HP:0000707;HP:0040064 Abnormality of the nervous system; Abnormality of limbs T033 Finding 7 BXGD014221 Transposition of the Great Arteries, Dextro-Looped 1 C1837341 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 6 BXGD014222 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J C1837342 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD014223 Childhood onset C1837352 phenotype Finding T033 Finding 56 BXGD014224 Leukodystrophy, Hypomyelinating, 2 C1837355 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD014225 Abnormal pattern of respiration C1837388 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 20 BXGD014226 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie C1837396 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD014227 Severe global developmental delay C1837397 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 130 BXGD014228 Flat occiput C1837402 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 45 BXGD014229 High, narrow palate C1837404 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 129 BXGD014230 Hypoplasia involving bones of the upper limbs C1837406 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 9 BXGD014231 Ankle contracture C1837407 phenotype Finding HP:0040064;HP:0000924;HP:0003549;HP:0003011 Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T033 Finding 3 BXGD014232 SPINOCEREBELLAR ATAXIA 8 C1837454 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 21 BXGD014233 Impaired smooth pursuit C1837458 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 25 BXGD014234 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 C1837461 disease Finding T033 Finding 578 BXGD014235 Narrow face C1837463 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 87 BXGD014236 Insulin-Like Growth Factor I Deficiency C1837475 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 28 BXGD014237 Thoracic hypoplasia C1837482 disease Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 32 BXGD014238 Posterior rib cupping C1837483 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 5 BXGD014239 Flat acetabular roof C1837485 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 21 BXGD014240 Axonal degeneration C1837496 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 17 BXGD014241 Microcephaly, Primary Autosomal Recessive, 5 C1837501 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7;DOID:0080015 genetic disease; disease of anatomical entity; physical disorder T047 Disease or Syndrome 2 BXGD014242 Small cerebral cortex C1837503 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 8 BXGD014243 Decreased serum complement C3 C1837512 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 12 BXGD014244 Impaired pain sensation C1837522 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 41 BXGD014245 AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency C1837530 disease C23;C16;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD014246 Fused labia minora C1837532 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 5 BXGD014247 SPINOCEREBELLAR ATAXIA 20 C1837541 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD014248 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 C1837549 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD014249 Prostate Cancer, Hereditary, 4 C1837593 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD014250 Painless fractures due to injury C1837602 phenotype Finding HP:0000707;HP:0000924 Abnormality of the nervous system; Abnormality of the skeletal system T033 Finding 8 BXGD014251 ICHTHYOSIS PREMATURITY SYNDROME C1837610 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD014252 Intermittent hypothermia C1837639 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 3 BXGD014253 Impaired ability to form peer relationships C1837649 phenotype F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 3 BXGD014254 Lack of spontaneous play C1837650 phenotype F01 Behavior and Behavior Mechanisms Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD014255 Inflexible adherence to routines or rituals C1837653 phenotype F01 Behavior and Behavior Mechanisms Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD014256 Spondyloepiphyseal dysplasia, Omani type C1837657 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD014257 Gross motor development delay C1837658 disease F03 Mental Disorders Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 118 BXGD014258 Progressive intervertebral space narrowing C1837670 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD014259 AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder) C1837728 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD014260 Overfolded helix C1837731 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 46 BXGD014261 Thickened helices C1837732 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 37 BXGD014262 Broad lateral eyebrow C1837733 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 2 BXGD014263 MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY C1837756 disease C16;C18;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014264 Progressive clavicular acroosteolysis C1837757 phenotype C05 Musculoskeletal Diseases Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD014265 Bird-like facies C1837758 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 12 BXGD014266 Narrow nasal ridge C1837761 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 11 BXGD014267 Decreased adipose tissue around neck C1837763 phenotype Finding HP:0001574;HP:0003549 Abnormality of the integument; Abnormality of connective tissue T033 Finding 2 BXGD014268 Loss of subcutaneous adipose tissue in limbs C1837764 phenotype Finding HP:0003549 Abnormality of connective tissue T033 Finding 11 BXGD014269 Loss of facial adipose tissue C1837767 phenotype Finding HP:0000152;HP:0003549 Abnormality of head or neck; Abnormality of connective tissue T033 Finding 6 BXGD014270 Sparse hair C1837770 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 112 BXGD014271 Prominent superficial veins C1837785 phenotype Finding HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system T033 Finding 8 BXGD014272 Insulin-resistant diabetes mellitus at puberty C1837792 phenotype Disease or Syndrome HP:0001939;HP:0000818 Abnormality of metabolism/homeostasis; Abnormality of the endocrine system T047 Disease or Syndrome 5 BXGD014273 Prominent umbilicus C1837795 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 3 BXGD014274 Generalized muscular appearance from birth C1837799 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 2 BXGD014275 Decreased serum leptin C1837802 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 8 BXGD014276 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2 C1837811 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD014277 Cerebrofrontofacial Syndrome C1837819 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD014278 Burn-Mckeown syndrome C1837822 disease C23;C16;C08;C10;C09;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD014279 Bilateral talipes equinovarus C1837835 phenotype C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding HP:0040064 Abnormality of limbs T033 Finding 16 BXGD014280 CARDIOMYOPATHY, DILATED, 1O C1837839 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014281 SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE C1837845 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD014282 DEAFNESS, AUTOSOMAL RECESSIVE 35 C1837857 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014283 LEBER CONGENITAL AMAUROSIS 9 (disorder) C1837873 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD014284 SCHIZOPHRENIA 12 C1837893 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD014285 Type I transferrin isoform profile C1837899 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 16 BXGD014286 ERYTHROCYTOSIS, FAMILIAL, 2 C1837915 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014287 Corneal Dystrophy, Lattice Type IIIA C1837974 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014288 Colorectal Adenomatous Polyposis, Autosomal Recessive C1837991 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD014289 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 C1838023 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD014290 Incomprehensible speech C1838027 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 7 BXGD014291 Epilepsy, Nocturnal Frontal Lobe, Type 1 C1838049 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014292 Autosomal Dominant Lateral Temporal Lobe Epilepsy C1838062 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 8 BXGD014293 Focal sensory auditory seizure C1838063 phenotype C10 Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD014294 ABCD syndrome C1838099 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD014295 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) C1838100 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 12 BXGD014296 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA C1838103 disease C16;C18;C05;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD014297 Generalized limb muscle atrophy C1838114 disease Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 21 BXGD014298 OSLER-RENDU-WEBER SYNDROME 2 C1838163 disease C16;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 6 BXGD014299 Nail bed telangiectasia C1838167 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system T033 Finding 2 BXGD014300 CODAS syndrome C1838180 disease C23;C16;C11;C05;C07 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 4 BXGD014301 Squared iliac bones C1838186 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 6 BXGD014302 SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) C1838192 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD014303 SPINAL MUSCULAR ATROPHY, TYPE IV C1838230 G12.1 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD014304 TIBIAL MUSCULAR DYSTROPHY, TARDIVE C1838244 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 18 BXGD014305 Serpentine fibula polycystic kidney syndrome C1838257 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD014306 DIABETES MELLITUS, INSULIN-DEPENDENT, 4 C1838261 disease C18;C20;C19 Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 5 BXGD014307 Epiphyseal dysplasia, multiple, 1 C1838280 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014308 Pick Complex C1838313 disease C18;C10;F03 Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:7;DOID:150 disease of anatomical entity; disease of mental health T047 Disease or Syndrome 1 BXGD014309 Primitive reflexes (palmomental, snout, glabellar) C1838319 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 14 BXGD014310 Hyperorality C1838320 phenotype F01 Behavior and Behavior Mechanisms Finding HP:0000707 Abnormality of the nervous system T033 Finding 10 BXGD014311 APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS C1838329 disease C16;C04;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014312 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 C1838333 disease C16;C06;C04;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD014313 Limb hypertonia C1838391 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707;HP:0040064;HP:0003011 Abnormality of the nervous system; Abnormality of limbs; Abnormality of the musculature T033 Finding 77 BXGD014314 VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL C1838437 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 1 BXGD014315 ICHTHYOSIS EXFOLIATIVA C1838440 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD014316 SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder) C1838492 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014317 LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO (finding) C1838527 disease Finding DOID:630;DOID:7 genetic disease; disease of anatomical entity T033 Finding 1 BXGD014318 CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE C1838539 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD014319 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 C1838564 disease Finding T033 Finding 1 BXGD014320 CEROID LIPOFUSCINOSIS, NEURONAL, 8 C1838570 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD014321 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy C1838577 disease C23;C17;C05;C10;C14 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD014322 Progressive encephalopathy C1838578 phenotype C10 Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 14 BXGD014323 Pseudobulbar signs C1838579 phenotype Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 7 BXGD014324 Retinitis Pigmentosa 11 C1838601 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014325 EPILEPSY, CHILDHOOD ABSENCE, 1 C1838604 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD014326 Aplasia of the 1st metacarpal C1838610 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 5 BXGD014327 Warburg Sjo Fledelius syndrome C1838625 disease C23;C16;C11;C05;C10;C19;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 16 BXGD014328 Stargardt disease 3 C1838644 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD014329 RETINITIS PIGMENTOSA 12 (disorder) C1838647 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD014330 SPLIT-HAND/FOOT MALFORMATION 3 C1838652 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD014331 Macrocytosis, Familial C1838656 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014332 Vitamin D Hydroxylation-Deficient Rickets, Type 1B C1838657 disease C16;C18;C13;C05;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD014333 Deformed rib cage C1838659 phenotype Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD014334 Metaphyseal irregularity C1838662 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 34 BXGD014335 Enlargement of the wrists C1838663 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 8 BXGD014336 Enlargement of the ankles C1838664 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 6 BXGD014337 Rapidly progressive C1838681 phenotype Finding T033 Finding 38 BXGD014338 DEAFNESS, AUTOSOMAL RECESSIVE 2 C1838701 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD014339 Retinitis Pigmentosa 13 C1838702 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD014340 Bladder Exstrophy and Epispadias Complex C1838703 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T047 Disease or Syndrome 8 BXGD014341 Anteriorly placed anus C1838705 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 34 BXGD014342 Eiken Skeletal Dysplasia C1838779 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 1 BXGD014343 PARKINSON DISEASE, MITOCHONDRIAL (disorder) C1838867 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD014344 Corticospinal tract atrophy C1838868 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD014345 Myoglobinuria, Recurrent C1838877 phenotype C05 Musculoskeletal Diseases Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system DOID:7 disease of anatomical entity T033 Finding 2 BXGD014346 ATAXIA AND POLYNEUROPATHY, ADULT-ONSET C1838916 disease C23;C18;C10 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014347 LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY C1838951 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 40 BXGD014348 STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA C1838954 disease Finding T033 Finding 1 BXGD014349 MITOCHONDRIAL COMPLEX I DEFICIENCY C1838979 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 40 BXGD014350 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL C1838990 disease Finding T033 Finding 2 BXGD014351 Episodic vomiting C1838993 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0025031 Abnormality of the digestive system T033 Finding 43 BXGD014352 Striatonigral Degeneration, Infantile, Mitochondrial C1839022 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD014353 Decreased light- and dark-adapted electroretinogram amplitude C1839025 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 15 BXGD014354 LEBER OPTIC ATROPHY AND DYSTONIA C1839040 disease C23;C16;C18;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD014355 Upper motor neuron dysfunction C1839042 phenotype Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 16 BXGD014356 Spermatogenic Failure, Nonobstructive, Y-Linked C1839071 disease C16;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 16 BXGD014357 MENTAL RETARDATION, X-LINKED 89 C1839082 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Mental or Behavioral Dysfunction DOID:630;DOID:150 genetic disease; disease of mental health T048 Mental or Behavioral Dysfunction 3 BXGD014358 Dystonia 3, Torsion, X-Linked C1839130 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 15 BXGD014359 Thyroxine-Binding Globulin Deficiency C1839141 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 3 BXGD014360 THROMBOCYTOPENIA 1 (disorder) C1839163 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 30 BXGD014361 Intermittent thrombocytopenia C1839167 phenotype C15 Hemic and Lymphatic Diseases Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 4 BXGD014362 Hypoplasia of the capital femoral epiphysis C1839254 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 11 BXGD014363 Bulbo-Spinal Atrophy, X-Linked C1839259 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 126 BXGD014364 SPASTIC PARAPLEGIA 2, X-LINKED (disorder) C1839264 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 8 BXGD014365 Decreased proportion of CD4-positive T cells C1839304 phenotype C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 19 BXGD014366 Decreased proportion of CD8-positive T cells C1839305 phenotype C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 5 BXGD014367 Abnormal form of the vertebral bodies C1839326 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 89 BXGD014368 Rett Syndrome, Preserved Speech Variant C1839332 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 1 BXGD014369 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 C1839333 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 57 BXGD014370 Abnormal T-wave C1839341 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 20 BXGD014371 Progressive visual loss C1839364 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 77 BXGD014372 Pyruvate Dehydrogenase E1 Alpha Deficiency C1839413 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD014373 Severe lactic acidosis C1839436 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 8 BXGD014374 Chronic lactic acidosis C1839437 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 4 BXGD014375 PROPERDIN DEFICIENCY, X-LINKED C1839454 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD014376 Properdin Deficiency, Type II C1839455 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014377 Properdin Deficiency, Type III C1839456 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014378 Dysfunctional alternative complement pathway C1839458 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 1 BXGD014379 Thick skull base C1839507 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 2 BXGD014380 Limited knee flexion C1839512 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD014381 Protein avoidance C1839531 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 5 BXGD014382 Low plasma citrulline C1839532 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 14 BXGD014383 Hyperglutaminemia C1839533 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 5 BXGD014384 Episodic ammonia intoxication C1839541 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 4 BXGD014385 Microretrognathia C1839546 phenotype C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 53 BXGD014386 Optic Atrophy Spastic Paraplegia Syndrome C1839565 phenotype C23;C16;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014387 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 C1839566 disease C23;C16;C11;C05;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014388 Proximal tubulopathy C1839603 phenotype C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 37 BXGD014389 Low-molecular-weight proteinuria C1839606 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 4 BXGD014390 X-linked myopathy with excessive autophagy C1839615 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 14 BXGD014391 Severe muscular hypotonia C1839630 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 75 BXGD014392 Decreased cervical spine flexion due to contractures of posterior cervical muscles C1839653 phenotype Finding HP:0000924;HP:0003549;HP:0003011 Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T033 Finding 7 BXGD014393 Calf muscle pseudohypertrophy C1839666 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 17 BXGD014394 AUTISM, SEVERE C1839707 disease Finding T033 Finding 2 BXGD014395 Mental Retardation with Spastic Paraplegia C1839727 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD014396 Prieto X-linked mental retardation syndrome C1839730 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 16 BXGD014397 11 pairs of ribs C1839731 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 20 BXGD014398 MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME C1839735 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 21 BXGD014399 WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME C1839736 disease C23;C16;C18;C17;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD014400 Thick lower lip vermilion C1839739 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 145 BXGD014401 Paroxysmal bursts of laughter C1839749 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD014402 Narrow forehead C1839758 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 106 BXGD014403 Triangular nasal tip C1839765 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD014404 Tented upper lip vermilion C1839767 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 79 BXGD014405 FRAGILE X TREMOR/ATAXIA SYNDROME C1839780 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 62 BXGD014406 Macroorchidism, postpubertal C1839782 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 2 BXGD014407 Large forehead C1839783 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 14 BXGD014408 Folate-dependent fragile site at Xq28 C1839785 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 1 BXGD014409 Deep philtrum C1839797 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 42 BXGD014410 Long nose C1839798 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 29 BXGD014411 Long neck C1839816 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 7 BXGD014412 Anterior concavity of thoracic vertebrae C1839822 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD014413 Short distal phalanx of finger C1839829 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 85 BXGD014414 Frontal hirsutism C1839830 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 2 BXGD014415 Noncompaction cardiomyopathy C1839832 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 17 BXGD014416 MAJOR AFFECTIVE DISORDER 2 C1839839 disease C16;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 185 BXGD014417 MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE C1839840 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD014418 Periventricular cysts C1839858 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 9 BXGD014419 Elevated amniotic fluid alpha-fetoprotein C1839860 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 4 BXGD014420 Bicarbonaturia C1839865 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 2 BXGD014421 Elevated serum acid phosphatase C1839866 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 4 BXGD014422 Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis C1839874 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014423 Leiomyomatosis, esophageal and vulval, with nephropathy C1839884 disease C16;C04;C13;C17;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD014424 Decreased activity of the pyruvate dehydrogenase complex C1839888 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 35 BXGD014425 CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED C1839909 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014426 Multiple impacted teeth C1839965 phenotype C07 Stomatognathic Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 3 BXGD014427 Reduced natural killer cell activity C1839969 phenotype Finding HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T033 Finding 4 BXGD014428 Ichthyosis follicularis atrichia photophobia syndrome C1839988 disease C23;C16;C11;C17;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD014429 Elevated 8-dehydrocholesterol C1840013 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD014430 Elevated 8(9)-cholestenol C1840014 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD014431 SMALL PATELLA SYNDROME C1840061 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 21 BXGD014432 Patellar hypoplasia C1840068 phenotype C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 5 BXGD014433 Sandal gap C1840069 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 62 BXGD014434 Anteverted nostril C1840077 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 407 BXGD014435 CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO C1840169 disease Finding T033 Finding 2 BXGD014436 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR C1840235 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 20 BXGD014437 Midnasal stenosis C1840238 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 16 BXGD014438 IgE RESPONSIVENESS, ATOPIC C1840253 disease C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD014439 IMMUNE SUPPRESSION C1840264 phenotype Disease or Syndrome T047 Disease or Syndrome 222 BXGD014440 ICHTHYOSIS--CHEEK--EYEBROW SYNDROME C1840283 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD014441 LEBER CONGENITAL AMAUROSIS 11 C1840284 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014442 Ichthyosis hystrix, Curth Macklin type C1840296 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014443 Distal shortening of limbs C1840307 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 6 BXGD014444 Short 4th metacarpal C1840309 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 14 BXGD014445 Laryngeal cleft C1840311 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality HP:0002086 Abnormality of the respiratory system T019 Congenital Abnormality 72 BXGD014446 Redundant neck skin C1840319 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 16 BXGD014447 HYPOPHOSPHATEMIC BONE DISEASE C1840321 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD014448 ODONTOHYPOPHOSPHATASIA (disorder) C1840322 disease C16;C18;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD014449 Barakat syndrome C1840333 disease C23;C13;C12;C10;C19;C09 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 17 BXGD014450 Hypoparathyroidism, Autosomal Recessive C1840334 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD014451 Hypocalciuric Hypercalcemia, Acquired C1840348 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 13 BXGD014452 HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE (disorder) C1840362 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD014453 THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY C1840364 disease C19 Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD014454 King Denborough syndrome C1840365 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 1 BXGD014455 Mixed respiratory and metabolic acidosis C1840372 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 4 BXGD014456 Elevated systolic blood pressure C1840374 phenotype C14 Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 14 BXGD014457 Elevated diastolic blood pressure C1840375 phenotype C14 Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 14 BXGD014458 Elevated mean arterial pressure C1840376 phenotype C14 Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 10 BXGD014459 Cerebellar vermis hypoplasia C1840379 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 100 BXGD014460 Persistent cavum septum pellucidum C1840380 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 17 BXGD014461 Abnormality of the ureter C1840382 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 19 BXGD014462 Pseudohypoaldosteronism, Type IIa C1840389 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014463 Pseudohypoaldosteronism, Type IIc C1840391 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014464 HYPERPIGMENTATION, FAMILIAL PROGRESSIVE C1840392 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD014465 Hyperostosis Cranialis Interna C1840404 phenotype C05 Musculoskeletal Diseases Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 2 BXGD014466 Thickened cortex of long bones C1840418 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 6 BXGD014467 HEREDITARY RENAL CANCER ASSOCIATED 1 C1840423 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD014468 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS (disorder) C1840427 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD014469 Isolated hyperchlorhidrosis C1840437 phenotype Finding DOID:630;DOID:7 genetic disease; disease of anatomical entity T033 Finding 1 BXGD014470 Orthostatic Hypotensive Disorder, Streeten Type C1840438 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014471 Hyaloideoretinal degeneration of Wagner C1840452 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 7 BXGD014472 Retinal pigment epithelial atrophy C1840457 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 25 BXGD014473 HOLOPROSENCEPHALY 4 (disorder) C1840528 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225;DOID:0080015 genetic disease; disease of anatomical entity; syndrome; physical disorder T047 Disease or Syndrome 3 BXGD014474 HOLOPROSENCEPHALY 3 C1840529 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225;DOID:0080015 genetic disease; disease of anatomical entity; syndrome; physical disorder T047 Disease or Syndrome 4 BXGD014475 Abnormality of the carpal bones C1840535 phenotype C05 Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 6 BXGD014476 Hip Dysplasia, Congenital, Nonsyndromic C1840555 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014477 Hidradenitis suppurativa, familial C1840560 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD014478 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 C1841621 phenotype Finding T033 Finding 4 BXGD014479 Heme Oxygenase 1 Deficiency C1841651 disease C23;C18;C15 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD014480 Progressive Familial Heart Block, Type II C1841658 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD014481 Delayed ossification of carpal bones C1841684 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 12 BXGD014482 Pseudoepiphyses C1841685 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD014483 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1 C1841837 disease Finding T033 Finding 1 BXGD014484 Glucocorticoid Receptor Deficiency C1841972 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 104 BXGD014485 Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance C1841973 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014486 BODY COMPOSITION, BENEFICIAL C1841982 phenotype C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Finding T033 Finding 1 BXGD014487 GLOMUVENOUS MALFORMATIONS C1841984 disease C04 Neoplasms Disease or Syndrome T047 Disease or Syndrome 13 BXGD014488 GLAUCOMA 1, OPEN ANGLE, A C1842028 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD014489 Giant Platelet Syndrome with Thrombocytopenia C1842035 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD014490 GIANT PIGMENTED HAIRY NEVUS C1842036 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T191 Neoplastic Process 5 BXGD014491 Prominent supraorbital ridges C1842060 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 41 BXGD014492 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F C1842062 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD014493 Prolonged Electroretinal Response Suppression C1842073 phenotype C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T033 Finding 3 BXGD014494 Abnormality of the ribs C1842083 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 69 BXGD014495 Platelet Glycoprotein IV Deficiency C1842090 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 14 BXGD014496 Retinitis Pigmentosa 26 C1842127 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD014497 Nonsyndromic sensorineural hearing loss C1842137 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding T033 Finding 1 BXGD014498 Progressive hearing impairment C1842138 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding HP:0000598 Abnormality of the ear T033 Finding 14 BXGD014499 Irregular vertebral endplates C1842153 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 24 BXGD014500 Flat capital femoral epiphysis C1842155 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 11 BXGD014501 MYOPATHY, MYOSIN STORAGE (disorder) C1842160 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD014502 Scapuloperoneal amyotrophy C1842162 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 4 BXGD014503 Centrally nucleated skeletal muscle fibers C1842170 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 25 BXGD014504 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) C1842180 disease C16;C17;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 22 BXGD014505 Broad metacarpals C1842229 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 12 BXGD014506 Broad metatarsal C1842231 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 7 BXGD014507 Charcot-Marie-Tooth Disease, Dominant Intermediate C C1842237 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD014508 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 C1842247 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 25 BXGD014509 DEAFNESS, AUTOSOMAL RECESSIVE 39 (disorder) C1842342 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014510 HERMANSKY-PUDLAK SYNDROME 2 C1842362 disease C16;C18;C11;C17;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD014511 Central hypotonia C1842364 phenotype Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 50 BXGD014512 Low anterior hairline C1842366 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 71 BXGD014513 DEAFNESS, AUTOSOMAL DOMINANT 41 (disorder) C1842371 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014514 Epilepsy, Benign Neonatal, 3 C1842382 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014515 Neutrophil Immunodeficiency Syndrome C1842398 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014516 TROPICAL CALCIFIC PANCREATITIS C1842402 disease C06;C18 Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 24 BXGD014517 Pancreatic calcification C1842406 phenotype Finding HP:0025031;HP:0000924 Abnormality of the digestive system; Abnormality of the skeletal system T033 Finding 7 BXGD014518 increased risk of pancreatic cancer C1842408 phenotype C04 Neoplasms Finding HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T033 Finding 5 BXGD014519 Uniparental disomy, paternal, chromosome 14 C1842466 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 7 BXGD014520 Retinitis Pigmentosa 7 C1842475 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD014521 Impaired Ig class switch recombination C1842528 phenotype Finding HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T033 Finding 4 BXGD014522 DYSTONIA 18 (disorder) C1842534 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD014523 Limb-girdle muscle atrophy C1842552 disease Disease or Syndrome HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T047 Disease or Syndrome 8 BXGD014524 Temporal epilepsy, familial C1842564 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD014525 Abnormal corpus callosum morphology C1842581 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0000707 Abnormality of the nervous system T033 Finding 70 BXGD014526 Sensory axonal neuropathy C1842587 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 23 BXGD014527 SCHIZOPHRENIA 11 C1842605 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD014528 AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) C1842675 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 27 BXGD014529 Small earlobe C1842680 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 17 BXGD014530 Hypoplastic helices C1842681 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 4 BXGD014531 PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder) C1842687 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome; Congenital Abnormality DOID:7 disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 2 BXGD014532 Hypoplasia of the brainstem C1842688 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 55 BXGD014533 Posterior rib gap C1842696 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD014534 GAUCHER DISEASE, PERINATAL LETHAL C1842704 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD014535 Desquamation of skin soon after birth C1842714 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 14 BXGD014536 Hypermelanotic macule C1842774 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 59 BXGD014537 Recurrent upper and lower respiratory tract infections C1842777 phenotype Finding HP:0002715;HP:0000152;HP:0002086 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the respiratory system T033 Finding 10 BXGD014538 Cardiac conduction abnormality C1842820 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 18 BXGD014539 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii C1842836 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 6 BXGD014540 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2 C1842852 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD014541 Chromosome 1p36 Deletion Syndrome C1842870 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 6 BXGD014542 Depressed nasal ridge C1842876 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 117 BXGD014543 Short 5th finger C1842878 disease Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 18 BXGD014544 Dilated aortic root C1842881 phenotype Finding T033 Finding 1 BXGD014545 Caudal Duplication Anomaly C1842884 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 1 BXGD014546 AURAL ATRESIA, CONGENITAL C1842937 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 110 BXGD014547 NEUROTICISM C1842981 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 141 BXGD014548 Absent eyelashes C1843005 phenotype Congenital Abnormality HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T019 Congenital Abnormality 21 BXGD014549 Alzheimer disease, familial, type 3 C1843013 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 213 BXGD014550 Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques C1843014 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014551 Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia C1843015 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014552 Calf muscle hypertrophy C1843057 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 46 BXGD014553 Segmental peripheral demyelination/remyelination C1843077 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 21 BXGD014554 Acrocapitofemoral Dysplasia C1843096 disease C23;C16;C05 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014555 Enlargement of the distal femoral epiphysis C1843105 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD014556 Short palm C1843108 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 110 BXGD014557 Broad nail C1843112 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 9 BXGD014558 Hypercholanemia, Familial C1843139 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD014559 SEIZURES, BENIGN FAMILIAL INFANTILE, 3 C1843140 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD014560 Normal interictal EEG C1843146 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD014561 Progressive sensorineural hearing impairment C1843156 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000598 Abnormality of the ear T047 Disease or Syndrome 78 BXGD014562 Myelin outfoldings C1843168 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD014563 Hyperreflexia in upper limbs C1843175 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 16 BXGD014564 Noonan syndrome-like disorder with loose anagen hair C1843181 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD014565 Hypotrophy of the small hand muscles C1843228 disease Disease or Syndrome HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T047 Disease or Syndrome 2 BXGD014566 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 C1843244 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD014567 IRAK4 Deficiency C1843256 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD014568 Tubulointerstitial nephritis and uveitis C1843273 disease C13;C11;C12 Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD014569 Acute Tubulointerstitial Nephritis C1843274 N10 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 3 BXGD014570 Skin Fragility-Woolly Hair Syndrome C1843292 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014571 Palmoplantar keratosis with erythema and scale C1843294 phenotype Finding HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T033 Finding 1 BXGD014572 Sparse eyelashes C1843300 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 60 BXGD014573 Neuronopathy, Distal Hereditary Motor, Type Viib C1843315 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014574 Generalized osteosclerosis C1843331 phenotype C05 Musculoskeletal Diseases Finding HP:0000924 Abnormality of the skeletal system T033 Finding 8 BXGD014575 NIEMANN-PICK DISEASE, TYPE C2 C1843366 disease C16;C18;C10;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 9 BXGD014576 Poor school performance C1843367 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 211 BXGD014577 Vertical supranuclear gaze palsy C1843369 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 18 BXGD014578 Foam cells in visceral organs and CNS C1843373 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 2 BXGD014579 Reduced delayed hypersensitivity C1843386 phenotype Finding HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T033 Finding 4 BXGD014580 Accumulation of melanosomes in melanocytes C1843389 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 2 BXGD014581 Melanin pigment aggregation in hair shafts C1843390 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 2 BXGD014582 Death in childhood C1843392 phenotype Finding T033 Finding 25 BXGD014583 Diffuse reticular or finely nodular infiltrations C1843428 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 1 BXGD014584 Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis C1843463 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD014585 Epidermolysis Bullosa Simplex Superficialis C1843477 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD014586 Lethal Congenital Contracture Syndrome 2 C1843478 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD014587 Degenerative vitreoretinopathy C1843486 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 2 BXGD014588 Bilateral microphthalmos C1843496 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 35 BXGD014589 Pontocerebellar Hypoplasia Type 1 C1843504 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome; Congenital Abnormality DOID:7 disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 10 BXGD014590 Degeneration of anterior horn cells C1843505 phenotype C10 Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 15 BXGD014591 Hypoplasia of the ventral pons C1843507 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD014592 BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE C1843512 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014593 Retinal arteriolar tortuosity C1843517 phenotype Finding HP:0000152;HP:0000478;HP:0001626 Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system T033 Finding 23 BXGD014594 T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC C1843542 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD014595 Tip-toe gait C1843570 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 11 BXGD014596 LEPROSY, SUSCEPTIBILITY TO, 2 C1843632 disease Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 1 BXGD014597 Neck flexor weakness C1843637 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 30 BXGD014598 Nocturnal hypoventilation C1843643 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding HP:0002086 Abnormality of the respiratory system T033 Finding 14 BXGD014599 Spastic Paraplegia, Ataxia, And Mental Retardation C1843661 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD014600 Urinary bladder sphincter dysfunction C1843663 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 28 BXGD014601 Large sella turcica C1843677 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 3 BXGD014602 ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) C1843687 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 22 BXGD014603 Axial muscle weakness C1843697 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 28 BXGD014604 Increased variability in muscle fiber diameter C1843700 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 50 BXGD014605 LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO C1843738 disease Finding DOID:630;DOID:7 genetic disease; disease of anatomical entity T033 Finding 1 BXGD014606 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED C1843792 disease Disease or Syndrome DOID:630;DOID:7;DOID:150 genetic disease; disease of anatomical entity; disease of mental health T047 Disease or Syndrome 8 BXGD014607 Basal ganglia disease, biotin-responsive C1843807 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD014608 Newfoundland Rod-Cone Dystrophy C1843815 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014609 Bothnia Retinal Dystrophy C1843816 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD014610 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 C1843832 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014611 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis C1843851 disease C23;C16;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD014612 SPINOCEREBELLAR ATAXIA WITH EPILEPSY C1843852 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD014613 Atrophy/Degeneration involving the spinal cord C1843858 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD014614 Sensory ataxic neuropathy C1843859 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD014615 Vestibular dysfunction C1843865 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 16 BXGD014616 Progressive gait ataxia C1843885 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 21 BXGD014617 GIL BLOOD GROUP C1843889 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD014618 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 C1843896 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014619 COENZYME Q10 DEFICIENCY C1843920 disease C23;C18;C05;C10 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 21 BXGD014620 Postural instability C1843921 phenotype C10 Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 60 BXGD014621 Mental Retardation, Autosomal Recessive 2 C1843942 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD014622 Enteroviral hepatitis C1843995 disease Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T047 Disease or Syndrome 1 BXGD014623 Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction C1844006 disease C16;C06;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD014624 Corticospinal tract hypoplasia C1844007 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD014625 HETEROTAXY, VISCERAL, 1, X-LINKED C1844020 disease C16;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0080015 physical disorder T047 Disease or Syndrome 30 BXGD014626 Persistent bleeding after trauma C1844374 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 9 BXGD014627 Granulomatous Disease, Chronic, X-Linked C1844376 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 42 BXGD014628 Recurrent bacterial infection C1844383 phenotype C01 Infections Finding HP:0002715 Abnormality of the immune system T033 Finding 69 BXGD014629 Recurrent fungal infections C1844384 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 20 BXGD014630 Absence of bactericidal oxidative respiratory burst in phagocytes C1844385 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 4 BXGD014631 Deficiency or absence of cytochrome b(-245) C1844390 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 2 BXGD014632 Decreased activity of NADPH oxidase C1844394 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 5 BXGD014633 Pointed chin C1844505 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 71 BXGD014634 Large foramen magnum C1844508 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 6 BXGD014635 Antegonial notching of mandible C1844509 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 3 BXGD014636 Anteriorly placed odontoid process C1844512 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD014637 Increased density of long bone diaphyses C1844516 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD014638 Partial fusion of carpals C1844519 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD014639 Partial fusion of tarsals C1844520 phenotype C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD014640 Clitoral hypoplasia C1844527 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 30 BXGD014641 Midclavicular hypoplasia C1844530 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD014642 Hypoplastic finger C1844548 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 39 BXGD014643 Absent fingernail C1844554 phenotype C23 Pathological Conditions, Signs and Symptoms Congenital Abnormality HP:0001574 Abnormality of the integument T019 Congenital Abnormality 19 BXGD014644 Absent toenail C1844555 phenotype C23 Pathological Conditions, Signs and Symptoms Congenital Abnormality HP:0001574 Abnormality of the integument T019 Congenital Abnormality 11 BXGD014645 Medial flaring of the eyebrow C1844562 disease Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 28 BXGD014646 Large earlobe C1844573 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 18 BXGD014647 Hyperextensibility of the finger joints C1844577 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 18 BXGD014648 Exudative Vitreoretinopathy, Familial, X-Linked Recessive C1844579 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014649 Soft skin C1844592 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 22 BXGD014650 Molluscoid pseudotumors C1844597 disease Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 5 BXGD014651 Periorbital wrinkles C1844605 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 5 BXGD014652 Periorbital hyperpigmentation C1844606 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 5 BXGD014653 Aplasia/Hypoplastia of the eccrine sweat glands C1844618 disease Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 3 BXGD014654 Anal mucosal leukoplakia C1844632 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 2 BXGD014655 Unexplained fevers C1844662 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 14 BXGD014656 ISLETS OF LANGERHANS, ABSENCE OF C1844663 phenotype Finding DOID:630;DOID:7 genetic disease; disease of anatomical entity T033 Finding 1 BXGD014657 Immune dysregulation C1844666 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 11 BXGD014658 Dermoids of cornea C1844671 disease C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014659 DEAFNESS, X-LINKED 1 (disorder) C1844677 disease C23;C16;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD014660 Progressive hearing loss stapes fixation C1844678 disease C23;C16;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD014661 DEAFNESS-HYPOGONADISM SYNDROME C1844680 disease C23;C10;C19;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD014662 Limited knee extension C1844690 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 11 BXGD014663 OTOPALATODIGITAL SYNDROME, TYPE II C1844696 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD014664 Vertical clivus C1844702 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 1 BXGD014665 Platyspondyly C1844704 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 93 BXGD014666 Rudimentary fibula C1844706 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD014667 Radial deviation of the 2nd finger C1844709 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 7 BXGD014668 Nonossified fifth metatarsal C1844712 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD014669 Hypoplastic nasal tip C1844731 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD014670 Hemihypotrophy of lower limb C1844734 phenotype Finding HP:0040064;HP:0000924;HP:0001507 Abnormality of limbs; Abnormality of the skeletal system; Growth abnormality T033 Finding 3 BXGD014671 Axillary pterygium C1844738 phenotype C11 Eye Diseases Finding HP:0001574;HP:0000924 Abnormality of the integument; Abnormality of the skeletal system T033 Finding 7 BXGD014672 Butterfly vertebrae C1844752 phenotype Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 13 BXGD014673 Block vertebrae C1844753 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 4 BXGD014674 CONE-ROD DYSTROPHY, X-LINKED, 1 C1844776 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014675 CONE DYSTROPHY, X-LINKED, 1 C1844777 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD014676 Weight less than 3rd percentile C1844806 phenotype Finding HP:0001507 Growth abnormality T033 Finding 22 BXGD014677 Thick nasal alae C1844809 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 17 BXGD014678 Thick nasal septum C1844810 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 1 BXGD014679 Widely spaced teeth C1844813 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 71 BXGD014680 Lumbar kyphosis C1844818 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD014681 Range of joint movement increased C1844820 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 30 BXGD014682 Drumstick terminal phalanges C1844822 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD014683 Hyperconvex fingernails C1844825 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 12 BXGD014684 CLEFT PALATE, X-LINKED C1844830 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630;DOID:225;DOID:0080015 genetic disease; syndrome; physical disorder T047 Disease or Syndrome 9 BXGD014685 Cleft Palate with Ankyloglossia C1844831 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD014686 Stippled calcification in carpal bones C1844846 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD014687 Tarsal stippling C1844848 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD014688 Brachytelephalangic Chondrodysplasia Punctata C1844853 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 7 BXGD014689 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 (disorder) C1844865 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014690 Catel Manzke syndrome C1844887 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD014691 Ulnar deviation of the 2nd finger C1844891 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 6 BXGD014692 Broad finger C1844906 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 17 BXGD014693 Intermittent lactic acidemia C1844917 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 5 BXGD014694 Hypoplasia of the prostate C1844923 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 1 BXGD014695 Cervical spinal canal stenosis C1844925 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 6 BXGD014696 Scheuermann-like vertebral changes C1844926 phenotype C05 Musculoskeletal Diseases Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD014697 Arthrogryposis multiplex congenita, distal, X-linked C1844934 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD014698 Episodic respiratory distress C1844945 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 21 BXGD014699 Episodic hypoventilation C1844946 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding HP:0002086 Abnormality of the respiratory system T033 Finding 1 BXGD014700 Neural tube defects X-linked C1845026 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:0080015 physical disorder T047 Disease or Syndrome 6 BXGD014701 Spina Bifida, X-Linked C1845027 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:0080015 physical disorder T047 Disease or Syndrome 5 BXGD014702 Nonprogressive cerebellar ataxia C1845029 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 9 BXGD014703 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS C1845050 disease C23;C16;C18;C17 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 209 BXGD014704 AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 C1845052 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 10 BXGD014705 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED C1845055 disease C16;C10;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 42 BXGD014706 ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder) C1845069 disease C23;C16;C18;C11;C17;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 3 BXGD014707 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 (disorder) C1845073 disease C01;C20 Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014708 Lymphoproliferative Syndrome, X-Linked, 2 C1845076 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 14 BXGD014709 DEAFNESS, X-LINKED 5 (disorder) C1845095 disease C23;C16;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014710 Prominent median palatal raphe C1845108 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 1 BXGD014711 Hyperkyphosis C1845112 disease Acquired Abnormality HP:0000924 Abnormality of the skeletal system T020 Acquired Abnormality 4 BXGD014712 Immunodeficiency without anhidrotic ectodermal dysplasia C1845117 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD014713 SHORT STATURE, IDIOPATHIC, X-LINKED C1845118 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 18 BXGD014714 Generalized neonatal hypotonia C1845123 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 20 BXGD014715 MENTAL RETARDATION, X-LINKED 91 (disorder) C1845142 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD014716 Mental Retardation, X-Linked 92 C1845144 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD014717 Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate C1845146 disease C23;C16;C05;C10;F03;C07;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Congenital Abnormality T019 Congenital Abnormality 1 BXGD014718 Hypoplasia of the frontal bone C1845147 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 2 BXGD014719 Glycogen Storage Disease, Type IXD C1845151 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD014720 Exercise-induced myoglobinuria C1845155 phenotype C05 Musculoskeletal Diseases Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 8 BXGD014721 PARKINSON DISEASE 12 C1845165 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD014722 Dent Disease 2 C1845167 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD014723 Hypophosphatemic Rickets, X-Linked Recessive C1845168 disease C16;C18;C13;C05;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD014724 Renal phosphate wasting C1845169 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 8 BXGD014725 MENTAL RETARDATION, X-LINKED 78 C1845181 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD014726 Nephrogenic Syndrome of Inappropriate Antidiuresis C1845202 disease C16;C18;C10;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD014727 Decreased circulating renin level C1845206 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 9 BXGD014728 Heterotopia, Periventricular, Ehlers-Danlos Variant C1845235 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T019 Congenital Abnormality 1 BXGD014729 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE C1845243 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD014730 Lower limb hypertonia C1845245 phenotype Finding HP:0000707;HP:0040064;HP:0003011 Abnormality of the nervous system; Abnormality of limbs; Abnormality of the musculature T033 Finding 21 BXGD014731 Indolence C1845247 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 8 BXGD014732 Outbursts C1845248 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD014733 Small forehead C1845250 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 4 BXGD014734 Facial hypotonia C1845251 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000152;HP:0003011 Abnormality of head or neck; Abnormality of the musculature T033 Finding 33 BXGD014735 Prominent antihelix C1845272 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 6 BXGD014736 Abnormal conjugate eye movement C1845274 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 7 BXGD014737 MENTAL RETARDATION, X-LINKED 82 C1845286 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD014738 MENTAL RETARDATION, X-LINKED 84 C1845297 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD014739 Mental Retardation, X-Linked 45 C1845333 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD014740 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2 (finding) C1845334 disease Finding T033 Finding 1 BXGD014741 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding) C1845336 disease Finding T033 Finding 1 BXGD014742 Lack of peer relationships C1845337 phenotype F03 Mental Disorders Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD014743 Spinal Muscular Atrophy, Distal, X-Linked 3 C1845359 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD014744 Retrocerebellar cyst C1845370 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD014745 CONE-ROD DYSTROPHY, X-LINKED, 3 C1845407 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014746 Contiguous Abcd1-Dxs1375e Deletion Syndrome C1845408 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 2 BXGD014747 Cupped ears (finding) C1845447 phenotype Congenital Abnormality HP:0000598 Abnormality of the ear T019 Congenital Abnormality 45 BXGD014748 MENTAL RETARDATION, X-LINKED 77 C1845499 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD014749 Mental Retardation, X-Linked 46 C1845526 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 5 BXGD014750 MENTAL RETARDATION, X-LINKED 81 C1845531 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD014751 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2 (finding) C1845539 disease Finding T033 Finding 1 BXGD014752 FG SYNDROME 4 (disorder) C1845546 disease C23;C16;C06;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD014753 FG SYNDROME 3 C1845567 phenotype C23;C16;C06;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD014754 Recurrent bacterial meningitis C1845604 disease Disease or Syndrome HP:0000707;HP:0002715 Abnormality of the nervous system; Abnormality of the immune system T047 Disease or Syndrome 3 BXGD014755 Lymphoid depletion C1845609 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD014756 RETINITIS PIGMENTOSA 3 C1845667 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD014757 Perisylvian syndrome C1845668 disease C23;C16;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Congenital Abnormality T019 Congenital Abnormality 14 BXGD014758 Mental Retardation, X-Linked 63 C1845672 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD014759 MENTAL RETARDATION, X-LINKED 42 C1845810 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD014760 Coarse facial features C1845847 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0000152 Abnormality of head or neck T033 Finding 194 BXGD014761 MENTAL RETARDATION, X-LINKED 73 C1845860 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD014762 Creatine deficiency, X-linked C1845862 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 10 BXGD014763 Poor hand-eye coordination C1845864 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD014764 Irregularly spaced teeth C1845878 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 3 BXGD014765 MENTAL RETARDATION, X-LINKED 53 C1845889 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD014766 Lesch-Nyhan Syndrome, Neurologic Variant C1845892 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD014767 FG SYNDROME 2 C1845902 disease C23;C16;C06;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD014768 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema C1845919 disease C16;C17;C05;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014769 X- linked recessive C1845977 phenotype Finding T033 Finding 172 BXGD014770 Neutropenia, Severe Congenital, X-Linked C1845987 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD014771 Ectodermal dysplasia, hypohidrotic, with immune deficiency C1846006 disease C16;C17;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 10 BXGD014772 HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC C1846008 disease C16;C17;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 3 BXGD014773 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies C1846009 disease C23;C16;C13;C05;C12;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 8 BXGD014774 Pugilistic facies C1846011 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD014775 Marked muscular hypertrophy C1846013 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 4 BXGD014776 Progressive pes cavus C1846017 phenotype Finding HP:0040064 Abnormality of limbs T033 Finding 9 BXGD014777 Euthyroid multinodular goiter C1846034 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 4 BXGD014778 MENTAL RETARDATION, X-LINKED 72 C1846038 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD014779 Siderius X-linked mental retardation syndrome C1846055 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD014780 Lubs X-linked mental retardation syndrome C1846058 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Mental or Behavioral Dysfunction DOID:630;DOID:150 genetic disease; disease of mental health T048 Mental or Behavioral Dysfunction 11 BXGD014781 Infancy onset short-trunk short stature C1846061 phenotype Finding HP:0000924;HP:0001507 Abnormality of the skeletal system; Growth abnormality T033 Finding 1 BXGD014782 Terminal Osseous Dysplasia and Pigmentary Defects C1846129 disease C23;C16;C17;C05 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014783 Photosensitive tonic-clonic seizures C1846131 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 14 BXGD014784 Autistic features C1846135 phenotype Finding T033 Finding 3 BXGD014785 HOYERAAL-HREIDARSSON SYNDROME C1846142 disease C23;C16;C13;C17;C05;C10;F03;C15;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 16 BXGD014786 Intellectual disability, progressive C1846149 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Finding HP:0000707 Abnormality of the nervous system T033 Finding 45 BXGD014787 Widened subarachnoid space C1846151 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 35 BXGD014788 Anterior rib cupping C1846154 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 10 BXGD014789 Cone-shaped capital femoral epiphysis C1846157 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD014790 Mental Retardation, X-Linked 58 C1846174 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD014791 Hyperactive deep tendon reflexes C1846176 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 32 BXGD014792 Adrenal hypoplasia C1846223 phenotype Finding HP:0000818 Abnormality of the endocrine system DOID:7 disease of anatomical entity T033 Finding 23 BXGD014793 Absence of pubertal development C1846228 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 24 BXGD014794 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis C1846242 disease C23;C16;C13;C17;C05;C12;C10;F03;C15;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 4 BXGD014795 Microphthalmia, syndromic 2 C1846265 disease C16;C11;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD014796 Recurrent hypoglycemia C1846288 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 13 BXGD014797 Juvenile-onset dystonia C1846331 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014798 Externally rotated hips C1846339 phenotype Finding HP:0040064 Abnormality of limbs T033 Finding 2 BXGD014799 Bartter syndrome, type 3 C1846343 disease C13;C12;C19 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD014800 Bartter Syndrome, Type 3, with Hypocalciuria C1846344 disease C13;C12;C19 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD014801 Hyperactive renin-angiotensin system C1846345 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 8 BXGD014802 Renal salt wasting C1846347 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 22 BXGD014803 Renal potassium wasting C1846348 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 6 BXGD014804 Increased urinary potassium C1846351 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 5 BXGD014805 Hyperchloriduria C1846352 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 5 BXGD014806 Meckel syndrome type 3 C1846357 disease C23;C16;C13;C12;C08;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 3 BXGD014807 Spinocerebellar ataxia 19 C1846367 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD014808 FOCAL CORTICAL DYSPLASIA OF TAYLOR C1846385 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 14 BXGD014809 Focal Cortical Dysplasia of Taylor, Type IIa C1846386 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD014810 Focal Cortical Dysplasia of Taylor, Type IIb C1846389 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD014811 Lathosterolosis C1846421 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD014812 Thick upper lip vermilion C1846423 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 16 BXGD014813 Prominent sternum C1846433 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 8 BXGD014814 Hypoplastic scapulae C1846434 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 18 BXGD014815 Disproportionate short-trunk short stature C1846435 phenotype Finding HP:0000924;HP:0001507 Abnormality of the skeletal system; Growth abnormality T033 Finding 19 BXGD014816 Hypoplastic facial bones C1846438 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 6 BXGD014817 Hypoplasia of the odontoid process C1846439 phenotype C05 Musculoskeletal Diseases Finding HP:0000924 Abnormality of the skeletal system T033 Finding 23 BXGD014818 Hypoplastic acetabulae C1846442 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 4 BXGD014819 Irregular epiphyses C1846449 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 15 BXGD014820 Abnormality of the outer ear C1846460 disease Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 95 BXGD014821 Small thenar eminence C1846474 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 6 BXGD014822 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis C1846496 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD014823 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 C1846534 disease Disease or Syndrome T047 Disease or Syndrome 20 BXGD014824 Autoimmune Lymphoproliferative Syndrome Type 2B C1846545 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 14 BXGD014825 Recurrent sinopulmonary infections C1846546 phenotype Finding HP:0002715;HP:0002086 Abnormality of the immune system; Abnormality of the respiratory system T033 Finding 16 BXGD014826 Decreased T cell activation C1846550 phenotype Finding HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T033 Finding 6 BXGD014827 Defective B cell activation C1846551 phenotype Finding HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T033 Finding 1 BXGD014828 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE C1846564 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD014829 Degeneration of the lateral corticospinal tracts C1846566 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 21 BXGD014830 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY C1846574 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD014831 Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration C1846582 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD014832 Hemiclonic seizures C1846620 phenotype C10 Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD014833 DEAFNESS, AUTOSOMAL RECESSIVE (disorder) C1846647 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 38 BXGD014834 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I C1846672 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD014835 Thigh hypertrophy C1846674 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 2 BXGD014836 SPINOCEREBELLAR ATAXIA 17 C1846707 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 28 BXGD014837 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies C1846722 disease C23;C16;C05;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014838 Deafness, Autosomal Recessive 30 C1846784 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014839 Cervical subluxation C1846798 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD014840 Small epiphyses C1846803 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 15 BXGD014841 Abnormality of coagulation C1846821 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 59 BXGD014842 Aortic Aneurysm, Familial Thoracic 2 C1846837 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD014843 EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 C1846843 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD014844 PARKINSON DISEASE 8 (disorder) C1846862 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014845 Substantia nigra gliosis C1846865 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0000707 Abnormality of the nervous system T033 Finding 14 BXGD014846 Parkinsonism with favorable response to dopaminergic medication C1846868 phenotype C10 Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 21 BXGD014847 Compensatory chin elevation C1846911 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 2 BXGD014848 Short middle phalanx of finger C1846950 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 20 BXGD014849 Senior-Loken Syndrome 3 C1846980 disease C16;C13;C11;C12;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 4 BXGD014850 ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) C1847024 disease C16;C18;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD014851 USHER SYNDROME, TYPE IG C1847089 disease C23;C16;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 3 BXGD014852 Dilated fourth ventricle C1847117 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 13 BXGD014853 ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE C1847132 disease C16;C18;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD014854 Morning myoclonic jerks C1847164 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 11 BXGD014855 Generalized tonic-clonic seizures on awakening C1847165 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD014856 Vascular Malformation, Primary Intraosseous C1847197 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014857 ALZHEIMER DISEASE 4 C1847200 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD014858 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA C1847319 disease C06;C04 Digestive System Diseases; Neoplasms Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 20 BXGD014859 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL C1847352 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD014860 PARKINSON DISEASE 10 C1847360 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014861 Aplasia/Hypoplasia of the ribs C1847363 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD014862 Absence of lymph node germinal center C1847383 phenotype Finding HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system T033 Finding 4 BXGD014863 Digital Arthropathy-Brachydactyly, Familial C1847406 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014864 Brachytelomesophalangy C1847408 phenotype C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD014865 Abnormal oral glucose tolerance C1847425 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 15 BXGD014866 Glut1 Deficiency Syndrome C1847501 E74.810 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD014867 Paroxysmal lethargy C1847507 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD014868 Postnatal microcephaly C1847514 phenotype Finding HP:0000707;HP:0000152;HP:0000924 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 62 BXGD014869 Paroxysmal involuntary eye movements C1847515 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 39 BXGD014870 Hyperopic astigmatism C1847524 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 9 BXGD014871 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 C1847529 phenotype Finding T033 Finding 2 BXGD014872 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 C1847530 phenotype Finding T033 Finding 2 BXGD014873 MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET C1847532 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD014874 Azoospermia, Nonobstructive C1847540 disease C12 Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 91 BXGD014875 Hyperinsulinemic hypoglycemia, familial, 6 C1847555 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD014876 Distal sensory impairment C1847584 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 86 BXGD014877 Deficit in phonologic short-term memory C1847609 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD014878 Dyskinesia, Familial, with Facial Myokymia C1847627 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014879 KUFOR-RAKEB SYNDROME C1847640 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 11 BXGD014880 SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES C1847650 disease C16;C01;C10;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD014881 Rapidly progressive dementia C1847651 disease C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 9 BXGD014882 NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO C1847711 phenotype Finding T033 Finding 1 BXGD014883 Hypermethioninemia due to deficiency of glycine N-methyltransferase C1847720 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD014884 SPINOCEREBELLAR ATAXIA 15 C1847725 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD014885 GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (finding) C1847730 phenotype Finding T033 Finding 2 BXGD014886 MUSCULAR DYSTROPHY, CONGENITAL, 1C C1847759 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD014887 Cerebellar cyst C1847762 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 14 BXGD014888 Shoulder girdle muscle atrophy C1847766 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 12 BXGD014889 Waardenburg Syndrome Type 1 C1847800 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 16 BXGD014890 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F C1847823 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD014891 LIG4 Syndrome C1847827 disease C23;C16;C05;C20 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD014892 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) C1847835 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 302 BXGD014893 Generalized aminoaciduria C1847868 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 11 BXGD014894 PHACE association C1847874 disease C16;C11;C17;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014895 X-linked dominant inheritance C1847879 phenotype Finding T033 Finding 65 BXGD014896 Anomalous branches of internal carotid artery C1847886 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 1 BXGD014897 Onion bulb formation C1847906 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 28 BXGD014898 OVARIOLEUKODYSTROPHY C1847967 disease C13;C10;C19 Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD014899 Persistent Polyclonal B-Cell Lymphocytosis C1847973 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD014900 HUNTINGTON DISEASE-LIKE 2 C1847987 disease C23;C16;C10;F03 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD014901 Ehlers-Danlos syndrome caused by tenascin-X deficiency C1848029 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD014902 Hypotonia-Cystinuria Syndrome C1848030 disease C23;C16;C18;C13;C05;C12;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 6 BXGD014903 MENTAL RETARDATION, X-LINKED 50 C1848087 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD014904 Spondyloepimetaphyseal Dysplasia, X-Linked C1848097 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD014905 Narrow pelvis bone C1848103 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 8 BXGD014906 Long fibula C1848109 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 4 BXGD014907 EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) C1848137 disease C23;C16;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD014908 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A C1848172 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 26 BXGD014909 Female external genitalia in individual with 46,XY karyotype C1848178 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 17 BXGD014910 Blind vagina C1848182 disease Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 3 BXGD014911 Absent facial hair C1848192 phenotype Congenital Abnormality HP:0001574 Abnormality of the integument T019 Congenital Abnormality 3 BXGD014912 X-Linked Lissencephaly C1848199 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD014913 SUBCORTICAL BAND HETEROTOPIA, X-LINKED C1848200 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T047 Disease or Syndrome 10 BXGD014914 Subcortical Band Heterotopia C1848201 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T047 Disease or Syndrome 30 BXGD014915 DEAFNESS, X-LINKED 4 (disorder) C1848204 disease C23;C16;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD014916 Poor speech C1848207 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 208 BXGD014917 Periventricular Heterotopia, X-Linked C1848213 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T047 Disease or Syndrome 3 BXGD014918 DOSAGE-SENSITIVE SEX REVERSAL C1848296 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 159 BXGD014919 Dent disease 1 C1848336 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD014920 Posterior pharyngeal cleft C1848389 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 12 BXGD014921 Large for gestational age C1848395 phenotype C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding HP:0001507 Growth abnormality T033 Finding 43 BXGD014922 Xeroderma pigmentosum, variant type C1848410 disease C16;C04;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 4 BXGD014923 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E C1848411 disease C16;C04;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality DOID:630 genetic disease T047;T019 Disease or Syndrome; Congenital Abnormality 9 BXGD014924 Xanthine nephrolithiasis C1848431 phenotype C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 3 BXGD014925 C1-C2 subluxation C1848446 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD014926 Poor motor coordination C1848453 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 6 BXGD014927 Atypical or prolonged hepatitis C1848456 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T047 Disease or Syndrome 1 BXGD014928 High nonceruloplasmin-bound serum copper C1848459 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 3 BXGD014929 Premature arteriosclerosis C1848486 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 9 BXGD014930 Pierre Robin syndrome with fetal chondrodysplasia C1848488 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD014931 Short fourth metatarsal C1848514 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 8 BXGD014932 WAARDENBURG SYNDROME, TYPE 4A C1848519 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 12 BXGD014933 von Willebrand Disease, Recessive Form C1848525 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014934 Extrapyramidal dyskinesia C1848528 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 7 BXGD014935 Hypoplasia of the pons C1848529 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 30 BXGD014936 Ataxia with vitamin E deficiency C1848533 disease C23;C18;C10 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 18 BXGD014937 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 C1848534 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD014938 Bulging of the costochondral junction C1848538 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 4 BXGD014939 Hypomethioninemia C1848555 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 5 BXGD014940 Decreased adenosylcobalamin C1848556 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 7 BXGD014941 Methylmalonic acidemia with homocystinuria C1848561 disease C16;C18;C17;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD014942 Decreased methylmalonyl-CoA mutase activity C1848579 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 5 BXGD014943 Decreased methionine synthase activity C1848580 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 6 BXGD014944 Visceral myopathy familial external ophthalmoplegia C1848586 disease C16;C06;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD014945 Isolated hypoplasia of the right ventricle C1848587 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 5 BXGD014946 Mesoaxial polydactyly C1848595 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 9 BXGD014947 Central Y-shaped metacarpal C1848597 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 9 BXGD014948 VACTERL Association With Hydrocephalus C1848599 disease C16;C06;C05;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 5 BXGD014949 USHER SYNDROME, TYPE IC C1848604 disease C23;C16;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 3 BXGD014950 Vestibular hypofunction C1848606 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 13 BXGD014951 USHER SYNDROME, TYPE IIA C1848634 disease C23;C16;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 4 BXGD014952 USHER SYNDROME, TYPE IB (disorder) C1848638 disease C23;C16;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 14 BXGD014953 USHER SYNDROME, TYPE IA, FORMERLY C1848639 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 5 BXGD014954 USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY C1848640 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 5 BXGD014955 Profound sensorineural hearing loss C1848641 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 22 BXGD014956 Al Awadi syndrome C1848651 disease C23;C16;C05 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014957 Anteriorly displaced genitalia C1848653 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 1 BXGD014958 Broad ribs C1848654 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 18 BXGD014959 Long ear C1848657 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 3 BXGD014960 Aplastic pubic bones C1848660 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD014961 Aplasia/Hypoplasia of the phalanges of the hand C1848670 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 4 BXGD014962 Aplasia/Hypoplasia of the tarsal bones C1848671 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD014963 Hypoplastic feet C1848673 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 129 BXGD014964 4-Hydroxyphenylpyruvic aciduria C1848678 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 2 BXGD014965 4-hydroxyphenylacetic aciduria C1848680 phenotype C06 Digestive System Diseases Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 1 BXGD014966 Episodic peripheral neuropathy C1848695 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD014967 Elevated hepatic transaminase C1848701 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 212 BXGD014968 Elevated urinary delta-aminolevulinic acid C1848702 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 3 BXGD014969 Developmental delay, mild C1848735 phenotype Finding T033 Finding 1 BXGD014970 Distal amyotrophy C1848736 disease Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 106 BXGD014971 Oliver-McFarlane syndrome C1848745 disease C23;C16;C11;C17;C05;C10;C19;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD014972 Increased anterioposterior diameter of thorax C1848760 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD014973 Overtubulated long bones C1848769 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 4 BXGD014974 Prominent superficial blood vessels C1848771 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system T033 Finding 4 BXGD014975 Epidermal hyperkeratosis C1848773 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 3 BXGD014976 Thyroid defect in oxidation and organification of iodide C1848800 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 1 BXGD014977 Thyroid Dyshormonogenesis 1 C1848805 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD014978 Hyperthreoninemia C1848861 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 2 BXGD014979 Miller-McKusick-Malvaux-Syndrome (3M Syndrome) C1848862 disease C23;C16;C05;C10;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 11 BXGD014980 Absent external genitalia C1848869 phenotype Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 3 BXGD014981 Abnormality of the diaphragm C1848873 phenotype Anatomical Abnormality HP:0003011 Abnormality of the musculature T190 Anatomical Abnormality 12 BXGD014982 Peripheral pulmonary vessel aplasia C1848877 phenotype Finding HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system T033 Finding 1 BXGD014983 Tay-Sachs Disease, Juvenile C1848913 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD014984 Hexosaminidase A Deficiency, Adult Type C1848914 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD014985 Tay-Sachs Disease, Variant B1 C1848916 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD014986 GM2-ganglioside accumulation C1848920 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 2 BXGD014987 Hexosaminidase alpha-Subunit Deficiency (Variant B) C1848922 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD014988 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME C1848934 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 36 BXGD014989 Generalized dystonia C1848954 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 11 BXGD014990 Increased urinary sulfite C1848957 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 2 BXGD014991 Decreased urinary sulfate C1848958 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 2 BXGD014992 Short upper lip C1848977 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 12 BXGD014993 Developmental stagnation C1848980 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 14 BXGD014994 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE C1849011 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD014995 Broad femoral neck C1849016 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 7 BXGD014996 Short metatarsal C1849020 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 34 BXGD014997 Oval face C1849025 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 14 BXGD014998 Hypoplastic iliac body C1849034 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 4 BXGD014999 Metaphyseal widening C1849039 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 43 BXGD015000 Soft, doughy skin C1849043 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 11 BXGD015001 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies C1849069 disease C16;C06;C13;C05;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 1 BXGD015002 Relative macrocephaly C1849075 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 49 BXGD015003 Metaphyseal striations C1849081 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD015004 Broad forehead C1849089 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 133 BXGD015005 Infantile onset spinocerebellar ataxia C1849096 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 6 BXGD015006 Loss of ability to walk C1849097 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 37 BXGD015007 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder) C1849115 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD015008 Premature graying of body hair C1849125 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD015009 Spastic paraplegia 15, autosomal recessive C1849128 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD015010 Impaired vibration sensation in the lower limbs C1849134 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 39 BXGD015011 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE C1849140 disease C23;C16;C05;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 23 BXGD015012 Progressive truncal ataxia C1849143 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD015013 Loss of Purkinje cells in the cerebellar vermis C1849146 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD015014 Decreased sensory nerve conduction velocity C1849148 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 15 BXGD015015 Hypermyelinated retinal nerve fibers C1849151 phenotype Finding HP:0000707;HP:0000478 Abnormality of the nervous system; Abnormality of the eye T033 Finding 1 BXGD015016 Swan neck-like deformities of the fingers C1849152 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD015017 Spastic Ataxia C1849156 disease C23;C16;C11;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 28 BXGD015018 Resistance to Insulin-Like Growth Factor I C1849157 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 55 BXGD015019 Frontal lobe hypoplasia C1849172 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 30 BXGD015020 Elevated 7-dehydrocholesterol C1849185 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD015021 Severe photosensitivity C1849186 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 4 BXGD015022 PEELING SKIN SYNDROME C1849193 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 67 BXGD015023 Generalized hirsutism C1849211 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 113 BXGD015024 Fair hair C1849221 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 17 BXGD015025 Cleft of chin C1849227 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD015026 Severe combined immunodeficiency, atypical C1849236 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD015027 Abnormality of B cell physiology C1849242 phenotype Finding HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T033 Finding 1 BXGD015028 Overgrowth C1849265 phenotype Finding HP:0001507 Growth abnormality T033 Finding 103 BXGD015029 Advanced ossification of carpal bones C1849292 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 7 BXGD015030 Advanced tarsal ossification C1849293 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 4 BXGD015031 Hypoplastic labia minora C1849295 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 30 BXGD015032 Widely patent fontanelles and sutures C1849300 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 17 BXGD015033 Aplasia/Hypoplasia of the pubic bone C1849305 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD015034 Short 1st metacarpal C1849311 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 18 BXGD015035 Sandhoff Disease, Adult Type C1849320 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD015036 Sandhoff Disease, Juvenile Type C1849321 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD015037 Sandhoff Disease, Infantile Type C1849322 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD015038 Robinow syndrome, autosomal recessive C1849334 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 4 BXGD015039 Long palpebral fissure C1849340 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 73 BXGD015040 Triangular mouth C1849341 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 14 BXGD015041 Duplication of the distal phalanx of hand C1849343 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 4 BXGD015042 Richieri Costa Pereira syndrome C1849348 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD015043 Cleft lower alveolar ridge C1849350 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 1 BXGD015044 Abnormality of the aryepiglottic fold C1849357 disease Anatomical Abnormality HP:0002086 Abnormality of the respiratory system T190 Anatomical Abnormality 3 BXGD015045 Absent earlobe C1849364 phenotype Congenital Abnormality HP:0000598 Abnormality of the ear T019 Congenital Abnormality 14 BXGD015046 Nasal bridge wide C1849367 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 429 BXGD015047 Ridged fingernail C1849392 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 9 BXGD015048 Enhanced S-Cone Syndrome C1849394 disease C23;C16;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 14 BXGD015049 Retinoschisis of Fovea C1849397 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD015050 Knobloch syndrome C1849409 disease C23;C16;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD015051 Macular hypoplasia C1849412 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 7 BXGD015052 Lack of T cell function C1849426 phenotype Finding HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T033 Finding 7 BXGD015053 Renal tubular acidosis, distal, type 3 C1849435 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD015054 Mainzer-Saldino Disease C1849437 disease C23;C16;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD015055 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) C1849452 disease Disease or Syndrome T047 Disease or Syndrome 11 BXGD015056 Increased red cell osmotic fragility C1849478 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 9 BXGD015057 Neuronal loss in the cerebral cortex C1849485 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 8 BXGD015058 Increased serum pyruvate C1849488 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 45 BXGD015059 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to C1849507 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD015060 EPILEPSY, PYRIDOXINE-DEPENDENT C1849508 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 25 BXGD015061 Prenatal movement abnormality C1849510 phenotype Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 11 BXGD015062 Pygmy (disorder) C1849524 phenotype Disease or Syndrome T047 Disease or Syndrome 5 BXGD015063 Persistent open anterior fontanelle C1849537 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 5 BXGD015064 Delayed eruption of primary teeth C1849538 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 14 BXGD015065 Delayed eruption of permanent teeth C1849540 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 10 BXGD015066 Osteolytic defects of the distal phalanges of the hand C1849547 phenotype C05 Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 4 BXGD015067 Progressive pulmonary function impairment C1849570 phenotype C08 Respiratory Tract Diseases Finding HP:0002086 Abnormality of the respiratory system T033 Finding 6 BXGD015068 Absence of labia majora C1849575 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 2 BXGD015069 Neck pterygia C1849577 phenotype C11 Eye Diseases Finding HP:0001574;HP:0000924 Abnormality of the integument; Abnormality of the skeletal system T033 Finding 1 BXGD015070 Anterior clefting of vertebral bodies C1849579 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD015071 Dysplastic patella C1849580 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD015072 Accelerated atherosclerosis C1849618 phenotype C14 Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 7 BXGD015073 Wide nasal base C1849667 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 12 BXGD015074 Numerous nevi C1849677 phenotype C04 Neoplasms Finding HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm T033 Finding 8 BXGD015075 Peroxisomal ACYL-COA oxidase deficiency C1849678 disease C16;C18;C10;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD015076 No social interaction C1849683 phenotype F03 Mental Disorders Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD015077 Diffuse hepatic steatosis C1849686 phenotype C06 Digestive System Diseases Finding HP:0025031 Abnormality of the digestive system T033 Finding 4 BXGD015078 Progesterone Resistance C1849699 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 29 BXGD015079 Midgut malrotation C1849706 phenotype C23;C16;C06 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Finding HP:0025031 Abnormality of the digestive system T033 Finding 1 BXGD015080 POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE C1849718 disease C16;C11;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 29 BXGD015081 Polyglucosan Body Disease, Adult Form C1849722 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD015082 Underfolded helix C1849735 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 2 BXGD015083 Peripheral thrombosis C1849749 phenotype Pathologic Function HP:0001871 Abnormality of blood and blood-forming tissues T046 Pathologic Function 3 BXGD015084 Periportal fibrosis C1849766 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding HP:0025031 Abnormality of the digestive system T033 Finding 4 BXGD015085 Achromatopsia 3 C1849792 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD015086 Pili torti developmental delay neurological abnormalities C1849811 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015087 Glycogen Storage Disease of Heart, Lethal Congenital C1849813 disease C16;C18;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD015088 Generalized hypopigmentation C1849923 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 23 BXGD015089 Phenylpyruvic acidemia C1849926 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD015090 Persistent Mullerian duct syndrome C1849930 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Anatomical Abnormality DOID:7 disease of anatomical entity T190 Anatomical Abnormality 9 BXGD015091 Disproportionate short-limb short stature C1849937 phenotype Finding HP:0001507 Growth abnormality T033 Finding 35 BXGD015092 Agenesis of maxillary lateral incisor C1849950 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 5 BXGD015093 Square pelvis bone C1849953 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD015094 Limited elbow movement C1849955 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 13 BXGD015095 Calcific stippling C1849993 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD015096 Presentey Anomaly C1850000 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015097 Pericardial Effusion, Chronic C1850039 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015098 Facial hirsutism C1850041 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 4 BXGD015099 Prominent protruding coccyx C1850044 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD015100 Absent proximal finger flexion creases C1850048 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD015101 Clinodactyly of the 5th finger C1850049 disease Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 284 BXGD015102 PEHO syndrome C1850055 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD015103 Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome C1850056 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD015104 Undetectable visual evoked potentials C1850069 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 6 BXGD015105 Supranuclear Palsy, Progressive, 1, Atypical C1850077 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015106 Irregular ossification at anterior rib ends C1850083 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD015107 Narrow sacroiliac notch C1850087 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 7 BXGD015108 PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder) C1850100 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD015109 RAINE SYNDROME C1850106 disease C16;C11;C05;C10;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD015110 Osteopetrosis, mild autosomal recessive form C1850126 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD015111 Sandwich appearance of vertebral bodies C1850134 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD015112 Flared metaphysis C1850135 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 32 BXGD015113 TORG-WINCHESTER SYNDROME C1850155 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD015114 Interphalangeal joint erosions C1850158 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD015115 Widened metacarpal shaft C1850159 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD015116 Thin metacarpal cortices C1850160 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD015117 Thin metatarsal cortices C1850162 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD015118 Bruck syndrome 1 C1850168 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 2 BXGD015119 OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) C1850169 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD015120 Neonatal short-limb short stature C1850171 phenotype Finding HP:0001507 Growth abnormality T033 Finding 12 BXGD015121 Bowing of limbs due to multiple fractures C1850178 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 4 BXGD015122 Posterior polar cataract C1850191 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 8 BXGD015123 Posterior scalloping of vertebral bodies C1850196 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD015124 Median cleft lip C1850256 Q36.1 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 15 BXGD015125 Short tibia C1850259 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 17 BXGD015126 Severe platyspondyly C1850293 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 5 BXGD015127 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE C1850303 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD015128 Labial hypoplasia C1850325 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 7 BXGD015129 Bifid uterus C1850327 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 6 BXGD015130 Single interphalangeal crease of fifth finger C1850336 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD015131 Mosaic variegated aneuploidy syndrome 1 C1850343 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 10 BXGD015132 Hypodysplasia of the corpus callosum C1850348 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD015133 Microcephaly, severe C1850352 phenotype Finding T033 Finding 1 BXGD015134 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B C1850362 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 12 BXGD015135 Niemann-Pick Disease, Nova Scotian Type C1850363 disease C16;C18;C10;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD015136 NEUTROPHIL ACTIN DYSFUNCTION C1850380 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD015137 Neuropathy, Painful C1850383 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD015138 GIANT AXONAL NEUROPATHY 1 C1850386 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD015139 Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive C1850395 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015140 NAVAJO NEUROHEPATOPATHY C1850406 disease C16;C06;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD015141 Reye syndrome-like episodes C1850413 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 4 BXGD015142 Microvesicular hepatic steatosis C1850415 phenotype C06 Digestive System Diseases Finding HP:0025031 Abnormality of the digestive system T033 Finding 11 BXGD015143 Postural hypotension with compensatory tachycardia C1850438 phenotype C10;C14 Nervous System Diseases; Cardiovascular Diseases Finding HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system T033 Finding 4 BXGD015144 CEROID LIPOFUSCINOSIS, NEURONAL, 5 C1850442 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 6 BXGD015145 CEROID LIPOFUSCINOSIS, NEURONAL, 1 C1850451 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD015146 Progressive microcephaly C1850456 phenotype Finding HP:0000707;HP:0000152;HP:0000924 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 67 BXGD015147 Neuronal loss in central nervous system C1850496 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 37 BXGD015148 Yellow subcutaneous tissue covered by thin, scaly skin C1850533 phenotype Finding HP:0001574;HP:0003549 Abnormality of the integument; Abnormality of connective tissue T033 Finding 1 BXGD015149 Edema, generalized C1850534 R60.1 phenotype C23;C18;C13;C12;C14 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Pathologic Function HP:0001939 Abnormality of metabolism/homeostasis T046 Pathologic Function 12 BXGD015150 Hypernatremic dehydration C1850544 phenotype C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 3 BXGD015151 Atelosteogenesis type 2 C1850554 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD015152 Horizontal sacrum C1850558 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD015153 Nakajo syndrome C1850568 disease C17;C20;C25 Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 4 BXGD015154 Slender build C1850573 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001507 Growth abnormality T033 Finding 31 BXGD015155 Leigh Syndrome Due To Mitochondrial Complex II Deficiency C1850597 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 36 BXGD015156 Leigh Syndrome due to Mitochondrial Complex III Deficiency C1850598 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 36 BXGD015157 Leigh Syndrome due to Mitochondrial Complex IV Deficiency C1850599 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 37 BXGD015158 Leigh Syndrome due to Mitochondrial Complex V Deficiency C1850600 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 36 BXGD015159 Abnormality of brainstem morphology C1850601 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 21 BXGD015160 Native American myopathy C1850625 disease C23;C16;C05;C10;C07 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD015161 Exaggerated cupid's bow C1850629 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 11 BXGD015162 Broad distal phalanx of finger C1850630 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 10 BXGD015163 Short 3rd metacarpal C1850631 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD015164 Atrial myxoma, familial C1850635 disease C04;C14 Neoplasms; Cardiovascular Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD015165 Long eyelashes in irregular rows C1850640 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 2 BXGD015166 Anterior bowing of long bones C1850644 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD015167 Firm muscles C1850656 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 2 BXGD015168 Irregular femoral epiphysis C1850658 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD015169 Muscle hypertrophy of the lower extremities C1850663 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 3 BXGD015170 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) C1850674 G71.29 disease C23;C11;C05;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 11 BXGD015171 MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE C1850718 disease C18;C05;C10 Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD015172 Recurrent encephalopathy C1850719 phenotype C10 Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD015173 Transient hyperlipidemia C1850722 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD015174 Myopathy, congenital nonprogressive with Moebius and Robin sequences C1850746 disease C16;C05;C10;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 2 BXGD015175 EPILEPSY, PROGRESSIVE MYOCLONIC 2B C1850764 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD015176 Visual auras C1850765 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 7 BXGD015177 Reduced leukocyte alkaline phosphatase C1850780 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 2 BXGD015178 Proximal amyotrophy C1850794 disease Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 29 BXGD015179 Miyoshi myopathy C1850808 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD015180 Decreased/absent ankle reflexes C1850816 phenotype Finding HP:0000707;HP:0040064 Abnormality of the nervous system; Abnormality of limbs T033 Finding 4 BXGD015181 Exercise-induced myalgia C1850830 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 37 BXGD015182 Muscle fiber necrosis C1850848 phenotype Pathologic Function HP:0003011 Abnormality of the musculature T046 Pathologic Function 7 BXGD015183 Hyperextensibility at wrists C1850853 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 5 BXGD015184 Increased laxity of ankles C1850854 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 5 BXGD015185 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B C1850889 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 19 BXGD015186 Familial primary gastric lymphoma C1850900 disease C06;C04;C20;C15 Digestive System Diseases; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 121 BXGD015187 FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY C1850938 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 16 BXGD015188 Corneal dystrophy, Fuchs' endothelial, 1 C1850959 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD015189 Normal motor development C1851057 phenotype Finding T033 Finding 1 BXGD015190 Broad columella C1851059 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 10 BXGD015191 Severe expressive language delay C1851085 disease Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 11 BXGD015192 Agenesis of the anterior commissure C1851087 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD015193 Lumbosacral hirsutism C1851095 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD015194 LAURIN-SANDROW SYNDROME C1851100 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 36 BXGD015195 Fibrosis Of Extraocular Muscles, Congenital, 1 C1851102 disease C23;C16;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD015196 Levator palpebrae superioris atrophy C1851107 phenotype Finding HP:0000152;HP:0003011 Abnormality of head or neck; Abnormality of the musculature T033 Finding 2 BXGD015197 Superior rectus atrophy C1851108 phenotype Finding HP:0000152;HP:0003011 Abnormality of head or neck; Abnormality of the musculature T033 Finding 2 BXGD015198 Jones syndrome C1851112 disease C23;C16;C10;C07;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD015199 Desmoid disease, hereditary C1851124 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD015200 Progressive cervical vertebral spine fusion C1851129 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD015201 Small cervical vertebral bodies C1851130 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD015202 SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS C1851152 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD015203 Fibrinolytic Defect C1851184 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015204 Ectopia lentis isolated C1851286 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD015205 Abnormality of the renal collecting system C1851303 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 2 BXGD015206 Aplasia/hypoplasia of the femur C1851310 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD015207 Limited shoulder movement C1851313 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 5 BXGD015208 Iron Overload, Autosomal Dominant C1851316 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD015209 Familial Mediterranean Fever, Autosomal Dominant C1851347 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD015210 Facial Hypertrichosis C1851400 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 8 BXGD015211 Exudative vitreoretinopathy 1 C1851402 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD015212 Peripheral retinal avascularization C1851406 phenotype Finding HP:0000478;HP:0001626 Abnormality of the eye; Abnormality of the cardiovascular system T033 Finding 2 BXGD015213 Subcortical white matter calcifications C1851430 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0000707;HP:0000924 Abnormality of the nervous system; Abnormality of the skeletal system T033 Finding 1 BXGD015214 Cerebellar calcifications C1851431 phenotype Finding HP:0000707;HP:0000924 Abnormality of the nervous system; Abnormality of the skeletal system T033 Finding 1 BXGD015215 Cerebrooculofacioskeletal Syndrome 3 C1851443 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD015216 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness C1851536 disease C23;C16;C11;C05;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD015217 Limited hip movement C1851542 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 10 BXGD015218 Mottled pigmentation of the trunk and proximal extremities C1851551 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD015219 Discrete 2 to 5-mm hyper- and hypopigmented macules C1851552 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD015220 Skin fragility with non-scarring blistering C1851562 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 2 BXGD015221 Childhood Ependymoma C1851584 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 147 BXGD015222 MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA C1851585 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0002664;HP:0001871 Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 119 BXGD015223 Narrowing of medullary canal C1851612 phenotype Finding T033 Finding 1 BXGD015224 Pancreatic islet cell adenoma C1851697 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process HP:0025031;HP:0000818;HP:0000707;HP:0002664 Abnormality of the digestive system; Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 1 BXGD015225 Confetti-like hypopigmented macules C1851705 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 8 BXGD015226 LATERAL MENINGOCELE SYNDROME C1851710 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 118 BXGD015227 Dural ectasia C1851712 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 16 BXGD015228 Sclerosis of skull base C1851714 phenotype C05 Musculoskeletal Diseases Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 8 BXGD015229 Adrenocortical cytomegaly C1851720 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 6 BXGD015230 Overgrowth of external genitalia C1851722 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 6 BXGD015231 Pancreatic hyperplasia C1851733 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 6 BXGD015232 ELLIPTOCYTOSIS 2 (disorder) C1851741 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD015233 Poor wound healing C1851789 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 19 BXGD015234 Aplasia/Hypoplasia of the earlobes C1851792 disease Congenital Abnormality HP:0000598 Abnormality of the ear T019 Congenital Abnormality 11 BXGD015235 Palmoplantar cutis gyrata C1851797 phenotype Finding HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T033 Finding 2 BXGD015236 EDS VIIB C1851801 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD015237 Premature delivery because of cervical insufficiency or membrane fragility C1851808 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 4 BXGD015238 Hypermobility of distal interphalangeal joints C1851811 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD015239 Cigarette-paper scars C1851828 phenotype Finding HP:0001574;HP:0003549 Abnormality of the integument; Abnormality of connective tissue T033 Finding 5 BXGD015240 Premature birth following premature rupture of fetal membranes C1851833 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 5 BXGD015241 Narrow maxilla C1851835 disease Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD015242 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 C1851841 disease C16;C17;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 129 BXGD015243 Midline notch of upper alveolar ridge C1851853 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 8 BXGD015244 Small, conical teeth C1851883 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 4 BXGD015245 Anterior creases of earlobe C1851897 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 4 BXGD015246 Dopa-Responsive Dystonia C1851920 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 28 BXGD015247 Paroxysmal choreoathetosis C1851936 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD015248 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) C1851943 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD015249 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT C1851945 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD015250 Lewy Body Variant of Alzheimer Disease C1851958 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 4 BXGD015251 Fluctuations in consciousness C1851959 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 10 BXGD015252 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT C1851970 disease C16;C17;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD015253 Reticular hyperpigmentation C1851972 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 7 BXGD015254 Malattia Leventinese C1852020 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD015255 Drusen, Radial, Autosomal Dominant C1852021 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD015256 INSULIN RESISTANCE, SUSCEPTIBILITY TO C1852091 disease Finding DOID:0014667 disease of metabolism T033 Finding 3 BXGD015257 DIABETES MELLITUS, INSULIN-DEPENDENT, 2 C1852092 disease C18;C20;C19 Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD015258 Maturity-Onset Diabetes of the Young, Type 1 C1852093 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD015259 KERATOSIS PALMOPLANTARIS STRIATA II C1852127 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015260 Familial dermographism C1852145 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD015261 DERMODISTORTIVE URTICARIA C1852146 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD015262 Reticulate pigmentation of oral mucosa C1852148 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 1 BXGD015263 Fingerprints, Absence of C1852150 phenotype C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument DOID:630;DOID:7 genetic disease; disease of anatomical entity T033 Finding 4 BXGD015264 MAJOR AFFECTIVE DISORDER 1 C1852197 F31 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 161 BXGD015265 Failure of Tooth Eruption, Primary C1852222 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD015266 Nonarteritic anterior ischemic optic neuropathy (NAION) C1852242 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 22 BXGD015267 OPTIC ATROPHY 1 AND DEAFNESS C1852267 disease C23;C16;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015268 Auditory neuropathy C1852271 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 24 BXGD015269 DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) C1852282 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD015270 Autoamputation of digits C1852289 phenotype C05 Musculoskeletal Diseases Finding HP:0040064 Abnormality of limbs T033 Finding 8 BXGD015271 Darier Disease, Acral Hemorrhagic Type C1852296 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD015272 Darier Disease, Segmental C1852297 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD015273 Plantar pits C1852301 phenotype Finding HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T033 Finding 4 BXGD015274 Subungual hyperkeratotic fragments C1852311 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD015275 MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) C1852372 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 10 BXGD015276 Mitochondrial encephalopathy C1852373 disease C18;C05;C10 Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 32 BXGD015277 Cutis Gyrata Syndrome of Beare And Stevenson C1852406 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD015278 Prominent scrotal raphe C1852407 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 1 BXGD015279 Preauricular skin furrow C1852411 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 1 BXGD015280 Cataract, Variable Zonular Pulverulent C1852429 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015281 CATARACT, COPPOCK-LIKE C1852438 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 20 BXGD015282 Abnormality of the cervical spine C1852464 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 12 BXGD015283 Creutzfeldt-Jakob Disease, Sporadic C1852467 A81.09 disease C01;C10;F03 Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 57 BXGD015284 Extrapyramidal muscular rigidity C1852470 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 11 BXGD015285 Loss of facial expression C1852476 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD015286 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT C1852502 disease C05;C07 Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 45 BXGD015287 Misalignment of teeth C1852504 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 22 BXGD015288 Corticosteroid-Binding Globulin Deficiency C1852529 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD015289 Hypoplastic male external genitalia C1852534 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 9 BXGD015290 Coronary Artery Dissection, Spontaneous C1852540 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD015291 Absent retinal pigment epithelium C1852548 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 4 BXGD015292 Epithelial Recurrent Erosion Dystrophy C1852551 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD015293 CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT C1852555 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 12 BXGD015294 EPILEPSY, BENIGN NEONATAL, 2 C1852581 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD015295 Complement Component 4, Partial Deficiency Of C1852700 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015296 Hereditary macular coloboma C1852767 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T019 Congenital Abnormality 11 BXGD015297 OI-EDS Combined Syndrome C1852924 disease C16;C17;C05;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015298 Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia C1852989 disease C16;C11;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015299 Cornelia de Lange Syndrome 3 C1853099 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 5 BXGD015300 Cerebrooculofacioskeletal Syndrome 2 C1853102 disease C23;C16;C11;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD015301 ALOPECIA AREATA 2 C1853104 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD015302 Severe congenital neutropenia C1853118 phenotype C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 66 BXGD015303 Noonan Syndrome 4 C1853120 disease C16;C17;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 2 BXGD015304 NEPHROTIC SYNDROME, TYPE 3 C1853124 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD015305 Neutral Lipid Storage Disease with Myopathy C1853136 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD015306 OPTIC ATROPHY 5 (disorder) C1853139 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD015307 Slow decrease in visual acuity C1853141 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 27 BXGD015308 Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia C1853144 disease C23;C16;C10;C07;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD015309 MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) C1853147 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD015310 Multiple prenatal fractures C1853171 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 15 BXGD015311 Interhemispheric cysts C1853188 phenotype Finding T033 Finding 1 BXGD015312 Recurrent skin infections C1853193 phenotype C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T047 Disease or Syndrome 95 BXGD015313 Prostate Cancer, Hereditary, 7 C1853195 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 59 BXGD015314 COLD-INDUCED SWEATING SYNDROME 2 C1853198 disease C23;C16;C17;C05;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 4 BXGD015315 PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO C1853202 disease Finding T033 Finding 1 BXGD015316 Glycosylphosphatidylinositol deficiency C1853205 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD015317 Aphakia, congenital primary C1853230 disease C11 Eye Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 14 BXGD015318 Sclerocornea C1853235 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 42 BXGD015319 Isolated cases C1853237 phenotype Finding T033 Finding 111 BXGD015320 Conotruncal defect C1853238 disease Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 51 BXGD015321 Flat face C1853241 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 83 BXGD015322 Midface retrusion C1853242 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 228 BXGD015323 Eversion of lower lip C1853246 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 105 BXGD015324 SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT C1853247 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD015325 SPINOCEREBELLAR ATAXIA 28 C1853249 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD015326 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY C1853271 disease C23;C16;C18;C13;C05;C12 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD015327 Bleeding Disorder Due To P2RY12 Defect C1853278 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD015328 Erythrocytosis, Familial, 3 C1853286 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD015329 Increased red blood cell mass C1853288 phenotype C15 Hemic and Lymphatic Diseases Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 4 BXGD015330 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 C1853365 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD015331 Enlarged cisterna magna C1853377 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 18 BXGD015332 Interleukin 2 Receptor, Alpha, Deficiency of C1853392 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD015333 Gaze-evoked horizontal nystagmus C1853394 phenotype C11;C10 Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 10 BXGD015334 Difficulty in tongue movements C1853406 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 8 BXGD015335 INFLAMMATORY BOWEL DISEASE 5 C1853438 disease C06 Digestive System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD015336 Heterotaxy, Visceral, 3, Autosomal C1853444 disease C16;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0080015 physical disorder T047 Disease or Syndrome 29 BXGD015337 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET C1853445 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD015338 Pear-shaped nose C1853482 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 3 BXGD015339 Widow's peak C1853486 disease Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 9 BXGD015340 Thick eyebrow C1853487 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 104 BXGD015341 22q13.3 Deletion Syndrome C1853490 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 15 BXGD015342 Radiation induced meningioma C1853554 disease C04;C10;C26 Neoplasms; Nervous System Diseases; Wounds and Injuries Neoplastic Process T191 Neoplastic Process 2 BXGD015343 Alzheimer Disease 7 C1853555 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD015344 Jerky ocular pursuit movements C1853558 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 5 BXGD015345 Developmental Delay, Epilepsy, and Neonatal Diabetes C1853564 disease C23;C16;C18;C10;C19;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD015346 Neuroferritinopathy C1853578 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 17 BXGD015347 Perivascular spaces C1853618 phenotype Finding HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system T033 Finding 5 BXGD015348 Fryns-Aftimos Syndrome C1853623 disease C23;C16;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 3 BXGD015349 Broad neck C1853638 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 22 BXGD015350 Anemia, Diamond-Blackfan, 2 C1853666 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD015351 Rippling muscle disease C1853698 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD015352 Muscle mounding C1853702 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 3 BXGD015353 HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) C1853710 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD015354 MYOPATHY, DISTAL 2 C1853723 disease C16;C05;C08;C10;C07;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD015355 HEMOCHROMATOSIS, TYPE 4 C1853733 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD015356 Prominent occiput C1853737 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 53 BXGD015357 Long eyelashes C1853738 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 83 BXGD015358 Muscular hypotonia of the trunk C1853743 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 156 BXGD015359 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 C1853761 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 21 BXGD015360 Pontocerebellar atrophy C1853766 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 6 BXGD015361 Impaired distal vibration sensation C1853767 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 10 BXGD015362 Arthropathy, Erosive C1853829 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD015363 Parkinson Disease 6, Autosomal Recessive Early-Onset C1853833 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD015364 Decreased fumarate hydratase activity C1853903 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD015365 NONAKA MYOPATHY C1853926 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 132 BXGD015366 Rimmed vacuoles on biopsy C1853932 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 28 BXGD015367 Deposits immunoreactive to beta-amyloid protein C1853934 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 8 BXGD015368 CITRULLINEMIA, TYPE II, NEONATAL-ONSET C1853942 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 10 BXGD015369 MYASTHENIA, FAMILIAL INFANTILE, 1 C1853949 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015370 Generalized hypotonia due to defect at the neuromuscular junction C1853950 phenotype Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 2 BXGD015371 Decreased miniature endplate potentials C1853952 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 13 BXGD015372 Birdshot chorioretinopathy C1853959 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD015373 Dermatitis, Atopic, 2 C1853965 disease C16;C17;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD015374 Anisomastia C1854013 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality HP:0000769 Abnormality of the breast T190 Anatomical Abnormality 4 BXGD015375 Cataract, Central Saccular, With Sutural Opacities C1854021 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD015376 OTOSCLEROSIS 2 C1854022 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD015377 Spinal muscular atrophy, Jerash type C1854023 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD015378 Cardiomyopathy dilated with Woolly hair and keratoderma C1854063 disease C16;C17;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD015379 LATE-ONSET RETINAL DEGENERATION (disorder) C1854065 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 17 BXGD015380 Hyperaldosteronism, Familial, Type II C1854107 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD015381 Broad philtrum C1854111 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 22 BXGD015382 Prominent nasal bridge C1854113 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 180 BXGD015383 Short nose C1854114 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 265 BXGD015384 Charcot-Marie-Tooth disease, Type 2B2 C1854150 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD015385 Charcot-Marie-Tooth disease, Type 2B1 C1854154 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD015386 DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder) C1854158 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD015387 FIBROMATOSIS, GINGIVAL, 2 C1854181 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD015388 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY (disorder) C1854182 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD015389 Basal cell carcinoma, multiple C1854245 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD015390 LEBER CONGENITAL AMAUROSIS 6 (disorder) C1854260 disease C11 Eye Diseases Disease or Syndrome; Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 2 BXGD015391 Motor delay C1854301 phenotype F03 Mental Disorders Finding HP:0000707 Abnormality of the nervous system T033 Finding 384 BXGD015392 Hypotrichosis simplex C1854310 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 37 BXGD015393 Epilepsy, Nocturnal Frontal Lobe, Type 3 C1854335 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD015394 Spinocerebellar ataxia 14 C1854369 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD015395 Impaired vibration sensation at ankles C1854372 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 9 BXGD015396 Type 1 muscle fiber predominance C1854387 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 44 BXGD015397 Glabellar hemangioma C1854408 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0001626 Neoplasm; Abnormality of the cardiovascular system T191 Neoplastic Process 6 BXGD015398 Naevus flammeus of the eyelid C1854409 phenotype C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 6 BXGD015399 Deafness, Autosomal Recessive 10 C1854414 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD015400 MACROCEPHALY/AUTISM SYNDROME C1854416 disease C23;C16;C05;C10;F03 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD015401 Postnatal macrocephaly C1854417 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 4 BXGD015402 Biparietal narrowing C1854418 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 60 BXGD015403 Neuropathy, hereditary motor and sensory, Russe type C1854449 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD015404 Axonal regeneration C1854454 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD015405 TUBEROUS SCLEROSIS 1 (disorder) C1854465 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 32 BXGD015406 Spastic paraplegia 13, autosomal dominant C1854467 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD015407 Spinocerebellar ataxia 13 C1854488 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD015408 Limb dysmetria C1854489 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 16 BXGD015409 Slow progression C1854494 phenotype Finding T033 Finding 165 BXGD015410 Recurrent infection of the gastrointestinal tract C1854495 phenotype Finding HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T033 Finding 16 BXGD015411 Abnormality of the cranial nerves C1854510 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 17 BXGD015412 SEBASTIAN SYNDROME C1854520 disease C23;C10;C09;C15 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 42 BXGD015413 Carney Complex, Type 2 C1854540 disease C16;C04;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD015414 Metacarpal osteolysis C1854610 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD015415 Metatarsal osteolysis C1854614 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD015416 Growth Deficiency and Mental Retardation with Facial Dysmorphism C1854630 disease C23;C16;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 4 BXGD015417 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy C1854631 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015418 Limb fasciculations C1854657 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707;HP:0040064 Abnormality of the nervous system; Abnormality of limbs T033 Finding 5 BXGD015419 LETHAL CONGENITAL CONTRACTURE SYNDROME 1 C1854664 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 2 BXGD015420 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE C1854678 disease C23;C16;C17 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 8 BXGD015421 obsolete Congenital myopia C1854684 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD015422 Hypoplasia of the retina C1854685 disease Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 1 BXGD015423 Uncontrolled eye movements C1854686 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 7 BXGD015424 Short nasal bridge C1854689 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD015425 Diffuse cerebellar atrophy C1854699 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 17 BXGD015426 Metabolic Ketosis C1854704 phenotype C18 Nutritional and Metabolic Diseases Pathologic Function HP:0001939 Abnormality of metabolism/homeostasis T046 Pathologic Function 3 BXGD015427 J-shaped sella turcica C1854718 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 10 BXGD015428 Proximal tapering of metacarpals C1854749 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD015429 Dermatan sulfate excretion in urine C1854774 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 3 BXGD015430 Infantile cardiomyopathy C1854776 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD015431 Flaring of rib cage C1854780 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 4 BXGD015432 Grayish enamel C1854783 phenotype Finding HP:0000152;HP:0000924;HP:0003549 Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue T033 Finding 2 BXGD015433 Constricted iliac wings C1854785 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD015434 Epiphyseal deformities of tubular bones C1854786 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD015435 Pointed proximal second through fifth metacarpals C1854787 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD015436 Heparan sulfate excretion in urine C1854827 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 7 BXGD015437 Dense calvaria C1854834 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 3 BXGD015438 Progressive neurologic deterioration C1854838 phenotype F03 Mental Disorders Finding HP:0000707 Abnormality of the nervous system T033 Finding 33 BXGD015439 Absent speech C1854882 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 232 BXGD015440 Cerebral dysmyelination C1854885 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 17 BXGD015441 Short long bone C1854912 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 42 BXGD015442 Severe psychomotor retardation C1854919 phenotype Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 22 BXGD015443 Protuberant abdomen C1854928 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 25 BXGD015444 Monosomy 7 of Bone Marrow C1854978 disease C23;C16;C04;C15 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD015445 Molybdenum Cofactor Deficiency, Complementation Group A C1854988 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD015446 Molybdenum Cofactor Deficiency, Complementation Group B C1854989 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD015447 Molybdenum Cofactor Deficiency, Complementation Group C C1854990 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD015448 Agenesis of central incisor C1855000 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 1 BXGD015449 Mitochondrial Complex II Deficiency C1855008 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 8 BXGD015450 Progressive leukoencephalopathy C1855010 phenotype C10 Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 7 BXGD015451 Acute necrotizing encephalopathy C1855020 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 8 BXGD015452 Hepatocellular necrosis C1855038 phenotype Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 41 BXGD015453 MICROPHTHALMIA, ISOLATED 1 C1855052 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 8 BXGD015454 B lymphocytopenia C1855067 phenotype C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 13 BXGD015455 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 C1855081 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7;DOID:0080015 genetic disease; disease of anatomical entity; physical disorder T047 Disease or Syndrome 7 BXGD015456 Short proximal phalanx of thumb C1855091 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD015457 Methylmalonyl-CoA Epimerase Deficiency C1855100 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015458 Methylmalonic aciduria cblB type C1855102 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD015459 Neonatal onset C1855106 phenotype Finding T033 Finding 27 BXGD015460 Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency C1855114 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD015461 Methylmalonic Aciduria, mut(0) Type C1855115 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD015462 Methylmalonic Aciduria, mut(-) Type C1855116 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD015463 Methylmalonic aciduria C1855119 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T047 Disease or Syndrome 33 BXGD015464 3-Methylglutaconic Aciduria Type IV C1855126 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD015465 Methylcobalamin Deficiency, CblG Type C1855128 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD015466 Metaphyseal cupping of metacarpals C1855171 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD015467 Flat glenoid fossa C1855177 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD015468 CATARACT, ANTERIOR POLAR C1855179 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 125 BXGD015469 Broad phalanx C1855185 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 6 BXGD015470 Metaphyseal Chondrodysplasia with Retinitis Pigmentosa C1855188 disease C16;C11;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015471 Progressive leg bowing C1855191 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD015472 Cellular immunodeficiency C1855204 phenotype C20 Immune System Diseases Finding HP:0002715 Abnormality of the immune system T033 Finding 30 BXGD015473 Delayed proximal femoral epiphyseal ossification C1855222 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD015474 Spondylometaphyseal dysplasia, Sedaghatian type C1855229 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD015475 Focal lissencephaly C1855230 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 1 BXGD015476 Large posterior fontanelle C1855233 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 4 BXGD015477 Cone-shaped metacarpal epiphyses C1855239 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD015478 Irregular tarsal bones C1855240 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD015479 Pseudoarylsulfatase A Deficiency C1855255 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD015480 Disorganized thinking C1855263 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 8 BXGD015481 Shortening of the tibia C1855277 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD015482 Intrahepatic biliary atresia C1855284 phenotype C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 9 BXGD015483 Protruding ear C1855285 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 152 BXGD015484 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 C1855304 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 8 BXGD015485 Megaepiphyseal dwarfism C1855310 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD015486 Megacystis C1855311 phenotype C16;C13 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 8 BXGD015487 Cerebral hypoplasia C1855330 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 9 BXGD015488 Olfactory lobe agenesis C1855331 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 7 BXGD015489 External genital hypoplasia C1855333 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 29 BXGD015490 Bowing of the long bones C1855340 phenotype Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 63 BXGD015491 Inferior vermis hypoplasia C1855350 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD015492 Fixed facial expression C1855353 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD015493 Maple Syrup Urine Disease, Type IA C1855369 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD015494 Tortuosity of conjunctival vessels C1855391 phenotype Finding HP:0000152;HP:0000478;HP:0001626 Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system T033 Finding 3 BXGD015495 Thoracolumbar kyphosis C1855418 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 13 BXGD015496 Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive C1855433 disease C16;C11;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD015497 MALARIA, CEREBRAL, SUSCEPTIBILITY TO (finding) C1855457 disease Finding T033 Finding 1 BXGD015498 STARGARDT DISEASE 1 (disorder) C1855465 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 23 BXGD015499 Acute lymphoblastic leukemia with lymphomatous features C1855472 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD015500 Increased carrying angle C1855478 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD015501 Progressive spastic paraplegia C1855483 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 59 BXGD015502 Contiguous gene syndrome C1855496 disease Disease or Syndrome T047 Disease or Syndrome 52 BXGD015503 Lipase deficiency combined C1855498 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD015504 Prominent nipples C1855513 phenotype Finding HP:0000769 Abnormality of the breast T033 Finding 2 BXGD015505 Severe failure to thrive C1855514 phenotype Finding HP:0001507 Growth abnormality T033 Finding 14 BXGD015506 Hyperglycemia, Postprandial C1855520 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 37 BXGD015507 Small face C1855538 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 10 BXGD015508 Enlarged metaphyses C1855544 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 4 BXGD015509 Laron syndrome type 2 C1855548 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015510 Pyruvate Dehydrogenase E3-Binding Protein Deficiency C1855553 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD015511 Jerky head movements C1855568 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 10 BXGD015512 Erythrocyte Lactate Transporter Defect C1855577 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015513 Exercise-induced muscle cramps C1855578 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 8 BXGD015514 Exercise-induced muscle stiffness C1855579 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 4 BXGD015515 Exercise-induced muscle fatigue C1855580 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 18 BXGD015516 Keutel syndrome C1855607 disease C16;C18;C17;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD015517 HAIM-MUNK SYNDROME C1855627 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015518 Congenital palmoplantar keratosis C1855633 disease Congenital Abnormality HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T019 Congenital Abnormality 1 BXGD015519 Atrophy of alveolar ridges C1855642 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 3 BXGD015520 Keratoconus posticus circumscriptus C1855645 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD015521 Birth length less than 3rd percentile C1855650 phenotype Finding HP:0001507 Growth abnormality T033 Finding 21 BXGD015522 Fetus Small for Gestational Age C1855652 phenotype C16;C13 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding T033 Finding 4 BXGD015523 Kaufman oculocerebrofacial syndrome C1855663 disease C23;C16;C11;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 5 BXGD015524 Ovoid vertebral bodies C1855665 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 25 BXGD015525 Absent frontal sinuses C1855669 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 9 BXGD015526 Abnormal cornea morphology C1855670 group Finding HP:0000478 Abnormality of the eye T033 Finding 9 BXGD015527 Immotile cilia C1855672 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 41 BXGD015528 Aplasia/Hypoplasia of the cerebellar vermis C1855676 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 30 BXGD015529 Brainstem dysplasia C1855677 phenotype Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 5 BXGD015530 Nephronophthisis, familial juvenile C1855681 disease Disease or Syndrome T047 Disease or Syndrome 17 BXGD015531 Undetectable electroretinogram C1855685 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 21 BXGD015532 Hypoplasia of the primary teeth C1855694 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD015533 Aplasia cutis congenita of scalp C1855698 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality HP:0001574 Abnormality of the integument T019 Congenital Abnormality 7 BXGD015534 Bone marrow hypocellularity C1855710 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 64 BXGD015535 Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation C1855722 disease C23;C16;C11;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 4 BXGD015536 Low posterior hairline C1855728 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 86 BXGD015537 Neuronal intestinal pseudoobstruction C1855733 disease C06;C10 Digestive System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD015538 Indifference to Pain, Congenital, Autosomal Recessive C1855739 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 23 BXGD015539 Abnormality of T cells C1855752 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 2 BXGD015540 Abnormal immunoglobulin level C1855755 phenotype Finding HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T033 Finding 6 BXGD015541 Reduced natural killer cell count C1855767 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 3 BXGD015542 Immune Deficiency Disease C1855771 disease C20 Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD015543 Absent corpus callosum cataract immunodeficiency C1855772 disease C23;C16;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 4 BXGD015544 Cutaneous anergy C1855781 phenotype Finding HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T033 Finding 6 BXGD015545 Hepatic glycogen storage C1855790 phenotype Finding T033 Finding 1 BXGD015546 Bamforth syndrome C1855794 disease C16;C17;C05;C19;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD015547 Hypoproteinemia, Hypercatabolic C1855796 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD015548 Skin dimple over apex of long bone angulation C1855815 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD015549 Vertebral clefting C1855828 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD015550 Hypocalcemic seizures C1855841 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939;HP:0000707 Abnormality of metabolism/homeostasis; Abnormality of the nervous system T047 Disease or Syndrome 11 BXGD015551 Severe intrauterine growth retardation C1855843 phenotype C23;C16;C13 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding HP:0001507 Growth abnormality T033 Finding 9 BXGD015552 Patchy osteosclerosis C1855845 phenotype C05 Musculoskeletal Diseases Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD015553 Bartter syndrome, antenatal , type 2 C1855849 disease C13;C12;C19 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD015554 Abnormally large globe C1855852 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 16 BXGD015555 Impaired platelet aggregation C1855853 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 16 BXGD015556 Widened posterior fossa C1855889 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 1 BXGD015557 Erlenmeyer flask deformity of the femurs C1855895 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 7 BXGD015558 Broad first metatarsal C1855899 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 4 BXGD015559 HYPERTRICHOSIS, CONGENITAL GENERALIZED C1855900 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 25 BXGD015560 Congenital hypertrophy of left ventricle C1855901 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 1 BXGD015561 Hyperopia, High C1855925 phenotype C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 47 BXGD015562 Hydroxylysinuria C1855986 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 2 BXGD015563 HYDROLETHALUS SYNDROME 1 C1856016 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD015564 Abnormal cortical gyration C1856019 phenotype C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 17 BXGD015565 Abnormal vagina morphology C1856023 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 12 BXGD015566 Hydranencephaly with Renal Aplasia-Dysplasia C1856053 disease C16;C13;C12;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD015567 Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type C1856057 disease C16;C18;C17;C10;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015568 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY C1856058 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD015569 Mthfr Deficiency, Thermolabile Type C1856059 disease C16;C18;C17;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD015570 Methylenetetrahydrofolate reductase deficiency C1856061 E72.12 disease C23;C16;C18;C17;C05;C10;F03 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 5 BXGD015571 Biconcave vertebral bodies C1856087 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 16 BXGD015572 Methioninuria C1856089 phenotype Finding T033 Finding 1 BXGD015573 Mowat-Wilson syndrome C1856113 disease C23;C16;C06;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 10 BXGD015574 Happy demeanor C1856115 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 10 BXGD015575 Uplifted earlobe C1856117 disease Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 6 BXGD015576 Prominent nasal tip C1856118 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 13 BXGD015577 Low hanging columella C1856119 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 17 BXGD015578 Broad eyebrow C1856121 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 11 BXGD015579 Bile acid synthesis defect, congenital, 2 C1856127 disease C16;C06;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD015580 Conical incisor C1856136 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 10 BXGD015581 HEMOLYTIC UREMIC SYNDROME, TYPICAL C1856143 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD015582 ALZHEIMER DISEASE, SUSCEPTIBILITY TO C1856170 phenotype Finding T033 Finding 2 BXGD015583 HEMIHYPERPLASIA, ISOLATED C1856184 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 31 BXGD015584 Neutral hyperaminoaciduria C1856194 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 1 BXGD015585 U-Shaped upper lip vermilion C1856202 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 6 BXGD015586 Thin calvarium C1856231 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 1 BXGD015587 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II C1856245 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD015588 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I C1856251 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD015589 Coronal craniosynostosis C1856266 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T047 Disease or Syndrome 20 BXGD015590 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related C1856273 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 1 BXGD015591 Glycoprotein Storage Disease C1856275 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015592 Increased hepatic glycogen content C1856285 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 4 BXGD015593 GSD IV, Classic Hepatic C1856301 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD015594 GSD IV, Neuromuscular Form, Fatal Perinatal C1856303 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD015595 GSD IV, Neuromuscular Form, Congenital C1856304 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD015596 GSD IV, Neuromuscular Form, Childhood C1856305 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD015597 Fetal hydrops (in perinatal or congenital neuromuscular forms) C1856309 phenotype Finding T033 Finding 1 BXGD015598 Doll-like facies C1856361 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD015599 Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to C1856399 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD015600 Glutaric Aciduria IIA C1856401 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD015601 Glutaric Aciduria IIB C1856403 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD015602 Glutaric Aciduria IIC C1856405 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD015603 Infantile encephalopathy C1856408 phenotype C10 Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 14 BXGD015604 Dilation of lateral ventricles C1856409 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 23 BXGD015605 Dicarboxylic aciduria C1856432 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 8 BXGD015606 Hypoketotic hypoglycemia C1856438 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 15 BXGD015607 GLAUCOMA 3, PRIMARY CONGENITAL, A C1856439 disease C11 Eye Diseases Disease or Syndrome; Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 3 BXGD015608 Late onset congenital glaucoma C1856441 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 1 BXGD015609 Bernard-Soulier Syndrome, Type B C1856447 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD015610 Ghosal Hematodiaphyseal Dysplasia C1856465 disease C16;C05;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD015611 Gaucher Disease, Type Iiic C1856476 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015612 Slowed horizontal saccades C1856477 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 3 BXGD015613 Hypometric horizontal saccades C1856478 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD015614 Bulbar signs C1856507 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 33 BXGD015615 Prominent scalp veins C1856542 phenotype Finding HP:0001574;HP:0000152;HP:0001626 Abnormality of the integument; Abnormality of head or neck; Abnormality of the cardiovascular system T033 Finding 6 BXGD015616 Decreased beta-galactosidase activity C1856559 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 2 BXGD015617 Bone-marrow foam cells C1856560 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 5 BXGD015618 Progressive psychomotor deterioration C1856565 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 11 BXGD015619 Beaking of vertebral bodies C1856599 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 13 BXGD015620 Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to C1856603 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015621 Late-onset spinocerebellar degeneration C1856604 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD015622 Spatulate ribs C1856637 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD015623 Absent/hypoplastic paranasal sinuses C1856639 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 6 BXGD015624 Cervical platyspondyly C1856641 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD015625 Absent/hypoplastic coccyx C1856644 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD015626 Elevated sweat chloride C1856646 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 4 BXGD015627 Hypoplasia of olfactory tract C1856655 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 9 BXGD015628 Polysplenia C1856659 disease Congenital Abnormality HP:0025031;HP:0002715;HP:0001626 Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system T019 Congenital Abnormality 15 BXGD015629 Abnormality of the helix C1856660 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 21 BXGD015630 FRIEDREICH ATAXIA 1 C1856689 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 119 BXGD015631 Impaired proprioception C1856691 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 15 BXGD015632 Areflexia of lower limbs C1856694 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707;HP:0040064 Abnormality of the nervous system; Abnormality of limbs T033 Finding 24 BXGD015633 Mitochondrial malic enzyme reduced C1856697 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 1 BXGD015634 Palmoplantar cutis laxa C1856714 phenotype C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Finding HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T033 Finding 6 BXGD015635 Follicle-stimulating hormone deficiency, isolated C1856716 disease C12 Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD015636 Kininogen Deficiency, Total C1856719 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015637 Fuhrmann syndrome C1856728 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD015638 Short bowed radii C1856730 phenotype Finding T033 Finding 1 BXGD015639 Aplasia/Hypoplasia of the fibula C1856732 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 5 BXGD015640 Fibular hypoplasia and complex brachydactyly C1856738 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD015641 Malaligned carpal bone C1856742 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD015642 Deformed tarsal bones C1856746 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD015643 Aplastic/hypoplastic toenail C1856749 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 23 BXGD015644 Posterior vertebral hypoplasia C1856780 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD015645 Hypoplastic fingernail C1856786 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 30 BXGD015646 STROKE, ISCHEMIC, SUSCEPTIBILITY TO C1856857 phenotype Finding T033 Finding 2 BXGD015647 Down-sloping shoulders C1856872 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 32 BXGD015648 Hyperextensible hand joints C1856877 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 5 BXGD015649 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF C1856883 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD015650 Hypoplastic philtrum C1856886 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD015651 Clinodactyly of the thumb C1856888 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD015652 Facial Dysmorphism with Multiple Malformations C1856892 phenotype C23;C16;C05;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD015653 Eunuchoidism, familial hypogonadotropic C1856897 disease C19 Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD015654 Reduced pancreatic beta cells C1856904 phenotype Finding HP:0025031;HP:0000818 Abnormality of the digestive system; Abnormality of the endocrine system T033 Finding 7 BXGD015655 Ivory epiphyses C1856911 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD015656 Shortening of all middle phalanges of the fingers C1856912 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 7 BXGD015657 Hypoplasia of the femoral head C1856920 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 4 BXGD015658 Limited elbow flexion C1856922 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD015659 Epidermolysis bullosa with pyloric atresia C1856934 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD015660 Palmar hyperhidrosis C1856953 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T033 Finding 5 BXGD015661 Plantar hyperkeratosis C1856954 phenotype Finding HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T033 Finding 11 BXGD015662 Fragile nails C1856963 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001574 Abnormality of the integument T033 Finding 27 BXGD015663 Deep white matter hypodensities C1856979 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD015664 Increased CSF interferon alpha C1856983 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 7 BXGD015665 Capitate-hamate fusion C1857002 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 8 BXGD015666 Progressive congenital scoliosis C1857025 disease C05 Musculoskeletal Diseases Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 4 BXGD015667 Ehlers-Danlos syndrome, cardiac valvular form C1857034 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015668 Ectodermal dysplasia, ectrodactyly, and macular dystrophy C1857041 disease C16;C11;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 1 BXGD015669 Sparse scalp hair C1857042 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 85 BXGD015670 Abnormality of the philtrum C1857045 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 6 BXGD015671 Progressive hypotrichosis C1857048 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD015672 Anteverted ears C1857055 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 7 BXGD015673 Absent sternal ossification C1857074 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 5 BXGD015674 DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) C1857093 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD015675 Dyssegmental dysplasia C1857100 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD015676 Anisospondyly C1857101 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 4 BXGD015677 Limitation of joint mobility C1857108 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 84 BXGD015678 Parietal bossing C1857126 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 7 BXGD015679 Abnormal metaphyseal trabeculation C1857139 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD015680 Episodic hyperhidrosis C1857171 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 20 BXGD015681 Episodic hypertension C1857175 phenotype C14 Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 8 BXGD015682 Enlargement of the costochondral junction C1857180 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 8 BXGD015683 Iliac crest serration C1857186 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD015684 Sparse lateral eyebrow C1857206 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 20 BXGD015685 LACTASE PERSISTENCE C1857231 phenotype Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 15 BXGD015686 2,4-Dienoyl-CoA Reductase Deficiency C1857252 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD015687 Dicarboxylicaminoaciduria C1857253 disease C23;C16;C13;C12;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD015688 Trichohepatoenteric Syndrome C1857276 disease C23;C16;C13;C17 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 424 BXGD015689 Donnai-Barrow syndrome C1857277 disease C23;C16;C18;C13;C11;C12;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD015690 Partial or complete agenesis of corpus callosum C1857278 disease Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 5 BXGD015691 Infra-orbital crease C1857280 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 4 BXGD015692 Stroke-like episode C1857287 phenotype C10;C14 Nervous System Diseases; Cardiovascular Diseases Finding HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system T033 Finding 27 BXGD015693 RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL C1857299 disease C11 Eye Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 13 BXGD015694 Flexion contracture of finger C1857304 phenotype Finding HP:0040064;HP:0000924;HP:0003549;HP:0003011 Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T033 Finding 17 BXGD015695 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY C1857316 disease C16;C18;C01;C17;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD015696 Deafness, Sensorineural, Autosomal-Mitochondrial Type C1857332 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD015697 Posterior fossa cyst C1857353 phenotype Finding HP:0000707;HP:0000152;HP:0000924 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 11 BXGD015698 Leigh syndrome , French Canadian type C1857355 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 11 BXGD015699 Cystinuria, Type A C1857388 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD015700 Cystinuria, Type B C1857389 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD015701 De Toni-Debre-Fanconi Syndrome C1857395 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 14 BXGD015702 Acth-Independent Macronodular Adrenal Hyperplasia C1857451 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 46 BXGD015703 Renal hypoplasia/aplasia C1857453 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 73 BXGD015704 Morphological abnormality of the middle ear C1857456 phenotype Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 6 BXGD015705 Short columella C1857479 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 20 BXGD015706 Slender finger C1857482 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 20 BXGD015707 Decreased palmar creases C1857483 phenotype Finding HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T033 Finding 6 BXGD015708 Brachyturricephaly C1857484 phenotype C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 9 BXGD015709 Flat forehead C1857485 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 11 BXGD015710 Low-set, posteriorly rotated ears C1857486 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 223 BXGD015711 Broad alveolar ridges C1857500 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 10 BXGD015712 Facial hyperostosis C1857501 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 4 BXGD015713 Club-shaped distal femur C1857505 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD015714 Flattened epiphysis C1857527 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 11 BXGD015715 Postnatal onset growth deficiency C1857534 phenotype Finding T033 Finding 1 BXGD015716 Deep palmar crease C1857539 phenotype Finding HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T033 Finding 23 BXGD015717 CORNEAL ENDOTHELIAL DYSTROPHY 2 C1857569 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD015718 CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS C1857572 disease C23;C16;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD015719 CONOTRUNCAL HEART MALFORMATIONS (disorder) C1857586 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD015720 Amaurosis hypertrichosis C1857588 disease C16;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015721 Achromatopsia 2 C1857618 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD015722 COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING C1857624 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD015723 Chorioretinal dystrophy C1857627 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 7 BXGD015724 Narrow palm C1857632 phenotype Finding HP:0040064 Abnormality of limbs T033 Finding 17 BXGD015725 Patchy demyelination of subcortical white matter C1857638 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD015726 Decreased nerve conduction velocity C1857640 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 58 BXGD015727 Severe postnatal growth retardation C1857641 phenotype Finding HP:0001507 Growth abnormality T033 Finding 30 BXGD015728 Retinal pigment epithelial mottling C1857644 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 16 BXGD015729 Slender nose C1857645 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 4 BXGD015730 Ivory epiphyses of the phalanges of the hand C1857651 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD015731 Prematurely aged appearance C1857656 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 40 BXGD015732 Reduced subcutaneous adipose tissue C1857657 phenotype Finding HP:0001574;HP:0003549 Abnormality of the integument; Abnormality of connective tissue T033 Finding 21 BXGD015733 COACH syndrome C1857662 disease C23;C16;C06;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD015734 Aplastic clavicle C1857665 phenotype Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 19 BXGD015735 Sloping forehead C1857679 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 149 BXGD015736 Combined Oxidative Phosphorylation Deficiency 4 C1857682 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD015737 Pulmonary arteriovenous malformation C1857690 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system T190 Anatomical Abnormality 4 BXGD015738 Arteriovenous fistulas of celiac and mesenteric vessels C1857693 phenotype C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 2 BXGD015739 Lip telangiectasia C1857697 phenotype Finding HP:0001574;HP:0000152;HP:0001626 Abnormality of the integument; Abnormality of head or neck; Abnormality of the cardiovascular system T033 Finding 4 BXGD015740 Palate telangiectasia C1857699 phenotype Finding HP:0001574;HP:0000152;HP:0001626 Abnormality of the integument; Abnormality of head or neck; Abnormality of the cardiovascular system T033 Finding 2 BXGD015741 Abnormal myelination C1857704 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 49 BXGD015742 Increased cellular sensitivity to UV light C1857707 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 4 BXGD015743 Progeroid facial appearance C1857710 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 14 BXGD015744 Hereditary Angioedema Type III C1857728 disease C17;C20;C14 Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD015745 LEBER CONGENITAL AMAUROSIS 12 (disorder) C1857743 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD015746 Alagille Syndrome 2 C1857761 disease C16;C06;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD015747 Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 C1857777 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD015748 Thoracic scoliosis C1857790 phenotype C05 Musculoskeletal Diseases Finding HP:0000924 Abnormality of the skeletal system T033 Finding 23 BXGD015749 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2 C1857800 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD015750 MORM syndrome C1857802 disease C23;C16;C18;C11;C12;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 2 BXGD015751 DEAFNESS, AUTOSOMAL RECESSIVE 44 C1857809 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD015752 Macular Degeneration, Age-Related, 7 C1857813 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD015753 MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY TO C1857814 disease Finding DOID:630;DOID:7 genetic disease; disease of anatomical entity T033 Finding 1 BXGD015754 Heart-hand syndrome, Slovenian type C1857829 disease C16;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015755 Proopiomelanocortin Deficiency C1857854 disease C23;C18;C19 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD015756 Brooke-Spiegler syndrome C1857941 disease C16;C04;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 45 BXGD015757 Severe gastroesophageal reflux C1857946 phenotype Finding T033 Finding 1 BXGD015758 Prominent metopic ridge C1857949 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 39 BXGD015759 Deep plantar creases C1857953 phenotype Finding HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T033 Finding 19 BXGD015760 Spinal rigidity C1858025 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 55 BXGD015761 WOLFRAM SYNDROME 2 C1858028 disease C23;C18;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 7 BXGD015762 Asymmetry of the thorax C1858033 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 12 BXGD015763 Periorbital fullness C1858036 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 57 BXGD015764 Becker Nevus Syndrome C1858042 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015765 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation C1858043 disease C23;C16;C13;C05;C12;C10;F03;C07;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 1 BXGD015766 NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS C1858051 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD015767 ASTHMA AND NASAL POLYPS C1858067 disease C23;C08;C20;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015768 Retinal Dystrophy, Early Onset Severe C1858080 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 14 BXGD015769 STICKLER SYNDROME, TYPE II (disorder) C1858084 disease C11;C17 Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 4 BXGD015770 Malar flattening C1858085 disease Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 190 BXGD015771 Long fingers C1858091 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 32 BXGD015772 HUNTINGTON DISEASE-LIKE 3 (disorder) C1858114 disease C16;C10;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 2 BXGD015773 Caudate atrophy C1858116 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 6 BXGD015774 Generalized hypotonia C1858120 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 955 BXGD015775 Limb-girdle muscle weakness C1858127 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 41 BXGD015776 ICHTHYOSIS, LAMELLAR, 3 C1858142 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD015777 CRANIOSYNOSTOSIS, TYPE 2 C1858160 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 23 BXGD015778 Deafness, Autosomal Dominant 20 C1858172 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD015779 EXUDATIVE VITREORETINOPATHY, DIGENIC C1858262 disease Finding T033 Finding 2 BXGD015780 Bare Lymphocyte Syndrome, Type I C1858266 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD015781 Decreased number of peripheral myelinated nerve fibers C1858285 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 28 BXGD015782 Ectodermal dysplasia/ skin fragility syndrome C1858302 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD015783 SPINOCEREBELLAR ATAXIA 11 C1858351 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD015784 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne C1858361 M04.8 disease C01;C17;C05 Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 21 BXGD015785 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) C1858379 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD015786 Leber Congenital Amaurosis 4 C1858386 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD015787 ATAXIA-TELANGIECTASIA-LIKE DISORDER C1858391 disease C16;C18;C20;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD015788 NEPHRONOPHTHISIS 3 C1858392 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 6 BXGD015789 Tubular atrophy C1858395 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 17 BXGD015790 Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency C1858424 disease C16;C18;C05;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 6 BXGD015791 Limited extraocular movements C1858427 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 11 BXGD015792 Death in infancy C1858430 phenotype Finding T033 Finding 146 BXGD015793 BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO C1858433 phenotype Finding T033 Finding 1 BXGD015794 COLORECTAL CANCER, SUSCEPTIBILITY TO C1858438 phenotype Finding T033 Finding 3 BXGD015795 CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO C1858439 phenotype Finding T033 Finding 1 BXGD015796 Thickened calvaria C1858452 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 27 BXGD015797 Epilepsy, Partial, with Variable Foci C1858477 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD015798 Spastic paraplegia 11, autosomal recessive C1858479 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD015799 Advanced Sleep-Phase Syndrome, Familial C1858496 disease C10;F03;C24 Nervous System Diseases; Mental Disorders; Occupational Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 5 BXGD015800 Spinocerebellar Ataxia 12 C1858501 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD015801 MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE C1858516 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7;DOID:0080015 genetic disease; disease of anatomical entity; physical disorder T047 Disease or Syndrome 2 BXGD015802 SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 C1858517 disease C16;C08;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 10 BXGD015803 Shawl scrotum C1858539 phenotype Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 19 BXGD015804 Facial capillary hemangioma C1858545 phenotype C04 Neoplasms Finding HP:0002664;HP:0000152;HP:0001626 Neoplasm; Abnormality of head or neck; Abnormality of the cardiovascular system T033 Finding 2 BXGD015805 OVERLAP CONNECTIVE TISSUE DISEASE C1858556 disease C11;C17;C14 Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 36 BXGD015806 Rheumatoid Arthritis, Systemic Juvenile C1858558 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 30 BXGD015807 Duplicated collecting system C1858565 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 19 BXGD015808 Absence of Stensen duct C1858569 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 4 BXGD015809 Sparse pubic hair C1858573 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 42 BXGD015810 Sparse axillary hair C1858574 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 39 BXGD015811 HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA C1858583 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD015812 Carney Triad C1858592 disease C06;C04;C08 Digestive System Diseases; Neoplasms; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 25 BXGD015813 Limb-girdle muscular dystrophy, type 2E C1858593 disease C16;C05;C08;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD015814 Short Stature, Idiopathic, Autosomal C1858656 disease C05;C10;C19 Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD015815 HEMOCHROMATOSIS, TYPE 3 C1858664 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD015816 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 C1858673 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD015817 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 C1858674 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015818 CATARACT, AUTOSOMAL DOMINANT C1858679 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 14 BXGD015819 Familial encephalopathy with neuroserpin inclusion bodies C1858680 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD015820 Chudley-Mccullough syndrome C1858695 disease C23;C16;C04;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD015821 Spastic paraplegia 10, autosomal dominant C1858712 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 16 BXGD015822 Facial muscle weakness of muscles innervated by CN VII C1858719 phenotype Finding HP:0000707;HP:0000152;HP:0003011 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculature T033 Finding 3 BXGD015823 Poikiloderma with Neutropenia C1858723 disease C16;C17;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 25 BXGD015824 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1 C1858725 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD015825 Decreased motor nerve conduction velocity C1858729 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 41 BXGD015826 Malar prominence C1858732 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 10 BXGD015827 Cardiomyopathy, Dilated, 1g C1858763 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD015828 Cerebellar Ataxia, Deafness, and Narcolepsy C1858804 disease C23;C10;F03;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015829 Vohwinkel Syndrome, Variant Form C1858805 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD015830 CONE-ROD DYSTROPHY 3 (disorder) C1858806 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD015831 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS C1858854 disease C23;C16;C04;C18;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Nervous System Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 24 BXGD015832 Diffuse spongiform leukoencephalopathy C1858857 phenotype C10 Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD015833 PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS C1858891 phenotype Finding T033 Finding 1 BXGD015834 Decreased lymphocyte apoptosis C1858969 phenotype Finding HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T033 Finding 5 BXGD015835 Chronic noninfectious lymphadenopathy C1858970 phenotype C15 Hemic and Lymphatic Diseases Finding HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system T033 Finding 12 BXGD015836 Increased B cell count C1858972 phenotype C15 Hemic and Lymphatic Diseases Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 5 BXGD015837 Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells C1858973 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 5 BXGD015838 Platelet antibody positive C1858980 phenotype Laboratory or Test Result HP:0002715 Abnormality of the immune system T034 Laboratory or Test Result 4 BXGD015839 Antineutrophil antibody positivity C1858981 phenotype Laboratory or Test Result HP:0002715 Abnormality of the immune system T034 Laboratory or Test Result 15 BXGD015840 Beta Thalassemia, Dominant Inclusion Body Type C1858990 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD015841 Childhood Ataxia with Central Nervous System Hypomyelinization C1858991 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 59 BXGD015842 Decreased circulating progesterone C1858995 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 5 BXGD015843 Primary gonadal insufficiency C1859014 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 21 BXGD015844 Medullary Cystic Kidney Disease Type 2 C1859040 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD015845 CYSTIC FIBROSIS MODIFIER 1 C1859047 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD015846 CCHS WITH HIRSCHSPRUNG DISEASE C1859049 disease C23;C08;C10 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 7 BXGD015847 LONG QT SYNDROME 3 C1859062 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD015848 Brittle Bone Disorder C1859069 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD015849 Aplasia/Hypoplasia of the nails C1859077 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001574 Abnormality of the integument T033 Finding 14 BXGD015850 Chorea, Benign Familial C1859098 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD015851 Vertebral chordoma C1859101 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD015852 Enlarged joints C1859111 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 7 BXGD015853 Prominent interphalangeal joints C1859115 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 4 BXGD015854 Stippled epiphyses C1859126 phenotype Finding HP:0000924 Abnormality of the skeletal system DOID:630;DOID:225 genetic disease; syndrome T033 Finding 28 BXGD015855 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 C1859133 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 4 BXGD015856 Chondrodysplasia, blomstrand type C1859148 disease C16;C04;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD015857 Laryngeal calcification C1859158 disease Disease or Syndrome HP:0002086;HP:0000924 Abnormality of the respiratory system; Abnormality of the skeletal system T047 Disease or Syndrome 2 BXGD015858 Neonatal cholestatic liver disease C1859162 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 3 BXGD015859 Progressive peripheral neuropathy C1859178 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD015860 GRISCELLI SYNDROME, TYPE 1 C1859194 disease C23;C16;C18;C17;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD015861 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) C1859198 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD015862 Inability to walk by childhood/adolescence C1859200 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD015863 Limited neck range of motion C1859212 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 5 BXGD015864 Deep longitudinal plantar crease C1859223 phenotype Finding HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T033 Finding 2 BXGD015865 Second metatarsal posteriorly placed C1859224 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD015866 Intrahepatic biliary dysgenesis C1859235 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 3 BXGD015867 Prolonged neonatal jaundice C1859236 phenotype C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding HP:0025031;HP:0001574 Abnormality of the digestive system; Abnormality of the integument T033 Finding 59 BXGD015868 Dense calcifications in the cerebellar dentate nucleus C1859273 phenotype Finding HP:0000707;HP:0000924 Abnormality of the nervous system; Abnormality of the skeletal system T033 Finding 3 BXGD015869 Triangular-shaped open mouth C1859292 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD015870 Cerebellar Ataxia and Hypogonadotropic Hypogonadism C1859305 disease C23;C10;C19 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD015871 PREMATURE CENTROMERE DIVISION C1859308 disease Disease or Syndrome T047 Disease or Syndrome 66 BXGD015872 Syndactyly Cenani Lenz type C1859309 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD015873 CAMFAK syndrome C1859312 disease C23;C16;C11;C05;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD015874 Cataract and cardiomyopathy C1859317 disease C11;C14 Eye Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 7 BXGD015875 Cardiac Valvular Defect, Developmental C1859330 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015876 Thoracolumbar kyphoscoliosis C1859335 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 6 BXGD015877 Midfrontal capillary hemangioma C1859339 phenotype Finding HP:0002664;HP:0000152;HP:0001626 Neoplasm; Abnormality of head or neck; Abnormality of the cardiovascular system T033 Finding 2 BXGD015878 Olivopontocerebellar hypoplasia C1859341 phenotype C16;C10;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Finding HP:0000707 Abnormality of the nervous system T033 Finding 11 BXGD015879 Abnormal subcutaneous fat tissue distribution C1859347 phenotype Finding HP:0001574;HP:0003549 Abnormality of the integument; Abnormality of connective tissue T033 Finding 9 BXGD015880 Abnormality of dental eruption C1859363 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 10 BXGD015881 Hypoplastic 5th lumbar vertebrae C1859366 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD015882 Calcification of Joints and Arteries C1859372 disease C18;C05;C14 Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD015883 Fused sternal ossification centers C1859376 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD015884 Absent pubic hair C1859391 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 3 BXGD015885 Absent axillary hair C1859392 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 7 BXGD015886 Radial bowing C1859399 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 19 BXGD015887 Bowen-Conradi syndrome C1859405 disease C23;C16;C13;C10;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD015888 Weak extraocular muscles C1859436 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 4 BXGD015889 Frontalis muscle weakness C1859438 phenotype C01;C10;C07 Infections; Nervous System Diseases; Stomatognathic Diseases Finding HP:0000707;HP:0000152;HP:0003011 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculature T033 Finding 10 BXGD015890 Minimal subcutaneous fat C1859442 phenotype Finding HP:0001574;HP:0003549 Abnormality of the integument; Abnormality of connective tissue T033 Finding 4 BXGD015891 Severe generalized osteoporosis C1859443 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD015892 Hypoplastic ischia C1859447 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 14 BXGD015893 Small anterior fontanelle C1859455 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 11 BXGD015894 Bowed humerus C1859460 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 4 BXGD015895 Femoral bowing C1859461 phenotype C05 Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 38 BXGD015896 Large basal ganglia C1859470 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 41 BXGD015897 Hypoplasia of proximal radius C1859477 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD015898 Hypoplasia of proximal fibula C1859478 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD015899 Cone-shaped epiphyses of the phalanges of the hand C1859480 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 20 BXGD015900 Abnormal finger flexion creases C1859481 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD015901 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY C1859486 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD015902 Episodic hemolytic anemia C1859495 phenotype C15 Hemic and Lymphatic Diseases Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 4 BXGD015903 3-methylcrotonyl CoA carboxylase 2 deficiency C1859499 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD015904 Acute hyperammonemia C1859506 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 5 BXGD015905 Episodic metabolic acidosis C1859516 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 5 BXGD015906 Beta-Aminoisobutyric Acid, Urinary Excretion of C1859518 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD015907 Progressive spasticity C1859520 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 19 BXGD015908 Contractures of the joints of the lower limbs C1859523 phenotype Finding HP:0000924;HP:0003549;HP:0003011 Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T033 Finding 12 BXGD015909 Adductor longus contractures C1859524 phenotype Finding HP:0000924;HP:0003549;HP:0003011 Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T033 Finding 1 BXGD015910 Bardet-Biedl syndrome 3 C1859564 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD015911 BARDET-BIEDL SYNDROME 11 C1859569 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD015912 ATRICHIA WITH PAPULAR LESIONS C1859592 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 70 BXGD015913 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA C1859598 disease C23;C10;C15;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 20 BXGD015914 Decreased number of large peripheral myelinated nerve fibers C1859606 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 14 BXGD015915 Defective B cell differentiation C1859624 phenotype Finding HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T033 Finding 1 BXGD015916 Asthma, Nasal Polyps, And Aspirin Intolerance C1859648 disease C23;C08;C20;C25;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD015917 Broad face C1859680 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 14 BXGD015918 Hypoplastic frontal sinuses C1859682 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 7 BXGD015919 CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME C1859690 disease C23;C16;C05 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD015920 Decreased cervical spine mobility C1859692 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 12 BXGD015921 Periarticular osteoporosis C1859694 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD015922 Enlargement of the proximal femoral epiphysis C1859697 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD015923 Contractures of the large joints C1859698 phenotype Finding HP:0000924;HP:0003549;HP:0003011 Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T033 Finding 3 BXGD015924 Depressed nasal tip C1859717 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 23 BXGD015925 Arthrogryposis, renal dysfunction, and cholestasis 1 C1859722 disease C16;C06;C13;C05;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 16 BXGD015926 ARTERIAL TORTUOSITY SYNDROME C1859726 Q87.82 disease C16;C17;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 37 BXGD015927 Arterial calcification of infancy C1859727 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD015928 Coronary Sclerosis, Medial, of Infancy C1859728 disease C18;C14 Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD015929 Progressive spastic quadriplegia C1859736 phenotype Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 12 BXGD015930 Anterior pituitary hypoplasia C1859775 phenotype Finding HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T033 Finding 18 BXGD015931 Postnatal growth retardation C1859778 phenotype Finding HP:0001507 Growth abnormality T033 Finding 121 BXGD015932 AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) C1859807 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 25 BXGD015933 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA C1859817 disease Finding DOID:0014667;DOID:630 disease of metabolism; genetic disease T033 Finding 1 BXGD015934 Increased extraneuronal autofluorescent lipopigment C1859828 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD015935 LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) C1859844 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD015936 Childhood-onset truncal obesity C1859846 phenotype Finding HP:0001507 Growth abnormality T033 Finding 11 BXGD015937 Episodic ketoacidosis C1859860 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 4 BXGD015938 Cerebral cortical neurodegeneration C1859863 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD015939 Alopecia-Mental Retardation Syndrome 1 C1859878 disease C23;C17;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD015940 Pigmentation of the sclera C1859882 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 3 BXGD015941 Progressive macrocephaly C1859896 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 5 BXGD015942 Freckles in sun-exposed areas C1859923 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 5 BXGD015943 Neutropenia, Severe Congenital, Autosomal Dominant 1 C1859966 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD015944 Hypodysfibrinogenemia, Congenital C1859970 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015945 ADRENOCORTICAL CARCINOMA, HEREDITARY C1859972 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD015946 Adrenocortical Carcinoma, Pediatric C1859973 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD015947 Precocious puberty in males C1859979 phenotype C19 Endocrine System Diseases Finding HP:0000818 Abnormality of the endocrine system T033 Finding 5 BXGD015948 Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency C1859995 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD015949 CARCINOMA, ADRENOCORTICAL, ANDROGEN-SECRETING C1859998 disease Finding T033 Finding 1 BXGD015950 Antley-Bixler Syndrome with Disordered Steroidogenesis C1860042 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 6 BXGD015951 Temporal bossing C1860048 phenotype Finding T033 Finding 2 BXGD015952 Cloverleaf skull C1860050 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 8 BXGD015953 Severe short-limb dwarfism C1860105 disease Disease or Syndrome HP:0001507 Growth abnormality T047 Disease or Syndrome 5 BXGD015954 Distal femoral bowing C1860107 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD015955 Abnormally shaped carpal bones C1860111 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD015956 Impaired T cell function C1860127 phenotype Cell or Molecular Dysfunction HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T049 Cell or Molecular Dysfunction 18 BXGD015957 Recurrent candida infections C1860128 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 12 BXGD015958 Low alkaline phosphatase C1860130 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 4 BXGD015959 Elejalde Disease C1860157 disease C23;C16;C17;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD015960 Bifid distal phalanx of the thumb C1860162 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD015961 Duplication of phalanx of hallux C1860164 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 6 BXGD015962 Pulmonary valve defects C1860165 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 1 BXGD015963 Valgus hand deformity C1860179 phenotype Finding HP:0040064 Abnormality of limbs T033 Finding 1 BXGD015964 Aplasia/Hypoplasia of metatarsal bones C1860182 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD015965 Absent vertebral body mineralization C1860191 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD015966 Unossified vertebral bodies C1860202 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD015967 ABLEPHARON-MACROSTOMIA SYNDROME C1860224 disease C16;C11;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 41 BXGD015968 Hyperzincemia and Hypercalprotectinemia C1860229 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD015969 Irregular hyperpigmentation C1860236 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 55 BXGD015970 Abnormal sternal ossification C1860243 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 6 BXGD015971 Malrotation of small bowel C1860244 phenotype C23;C16;C06 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Finding HP:0025031 Abnormality of the digestive system T033 Finding 7 BXGD015972 Cranial asymmetry C1860245 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 10 BXGD015973 Prominent glabella C1860247 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 14 BXGD015974 Pseudoepiphyses of the metacarpals C1860253 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 9 BXGD015975 Gonadal tissue inappropriate for external genitalia or chromosomal sex C1860268 phenotype C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 1 BXGD015976 Whispering dysphonia, hereditary C1860315 disease C23;C16;C08;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD015977 Bone marrow hypercellularity C1860320 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 26 BXGD015978 Lisch nodules C1860334 phenotype Finding HP:0002664;HP:0000152;HP:0000478 Neoplasm; Abnormality of head or neck; Abnormality of the eye T033 Finding 1 BXGD015979 Axillary freckling C1860335 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 6 BXGD015980 WAARDENBURG SYNDROME, TYPE IIA C1860339 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 7 BXGD015981 Hypoplastic iris stroma C1860344 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 7 BXGD015982 Renal hemangioblastoma C1860392 disease Neoplastic Process T191 Neoplastic Process 2 BXGD015983 Snowflake vitreoretinal degeneration C1860405 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 15 BXGD015984 Calcaneovalgus deformity C1860450 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 12 BXGD015985 Retinal vascular tortuosity C1860475 phenotype Finding HP:0000478;HP:0001626 Abnormality of the eye; Abnormality of the cardiovascular system T033 Finding 20 BXGD015986 Abnormal internal carotid artery morphology C1860488 disease Finding HP:0000152;HP:0001626 Abnormality of head or neck; Abnormality of the cardiovascular system T033 Finding 7 BXGD015987 Abnormality of the sternum C1860493 phenotype Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 46 BXGD015988 Flattened femoral head C1860601 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD015989 Short proximal phalanx of finger C1860606 phenotype Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 3 BXGD015990 Uncombable hair C1860607 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 5 BXGD015991 Pili canaliculi C1860608 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 6 BXGD015992 ULNAR HYPOPLASIA C1860614 phenotype C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 50 BXGD015993 TUBEROUS SCLEROSIS 2 (disorder) C1860707 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 43 BXGD015994 Achromatic retinal patches C1860710 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 3 BXGD015995 Dental enamel pits C1860711 phenotype Finding HP:0000152;HP:0000924;HP:0003549 Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue T033 Finding 5 BXGD015996 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 C1860752 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD015997 DOWN SYNDROME CRITICAL REGION C1860787 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 57 BXGD015998 Transient Myeloproliferative Disorder of Down Syndrome C1860788 disease C16;C10;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD015999 Leukemia, Megakaryoblastic, of Down Syndrome C1860789 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 9 BXGD016000 Triosephosphate Isomerase Deficiency C1860808 disease C16;C18;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 1 BXGD016001 Preauricular skin tag C1860816 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 53 BXGD016002 Metopic synostosis C1860819 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 28 BXGD016003 Trichorhinophalangeal Syndrome, Type III C1860823 disease C23;C16;C17;C05 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 6 BXGD016004 Accelerated bone age after puberty C1860825 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD016005 Cone-shaped epiphyses of the middle phalanges of the hand C1860828 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD016006 Infantile muscular hypotonia C1860834 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 118 BXGD016007 TREMOR, HEREDITARY ESSENTIAL, 1 C1860861 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016008 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 C1860896 disease C16;C06;C04;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 1 BXGD016009 NOONAN SYNDROME 3 C1860991 disease C16;C17;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 11 BXGD016010 Esophageal atresia with or without tracheoesophageal fistula C1861028 disease C23;C16;C06;C08 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 19 BXGD016011 TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding) C1861063 phenotype Finding T033 Finding 12 BXGD016012 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 C1861065 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD016013 THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT C1861101 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD016014 Abnormality of the middle ear C1861141 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 5 BXGD016015 THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) C1861171 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016016 Venous Thromboembolism C1861172 phenotype C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 378 BXGD016017 THROMBOCYTOPENIA 2 (disorder) C1861185 disease C23;C16;C15 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD016018 Glanzmann Thrombasthenia, Autosomal Dominant C1861195 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD016019 Wide-cupped costochondral junctions C1861213 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD016020 Small foramen magnum C1861217 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 3 BXGD016021 Hypoplastic ilia C1861218 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 16 BXGD016022 Small abnormally formed scapulae C1861226 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD016023 Forebrain Defects C1861235 disease C16;C05;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 4 BXGD016024 Fingerpad telangiectases C1861248 phenotype Finding HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system T033 Finding 2 BXGD016025 Immunodeficiency due to Defect in CD3-Epsilon C1861284 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016026 SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) C1861303 disease C11;C05 Eye Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 33 BXGD016027 TARSAL-CARPAL COALITION SYNDROME C1861305 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 261 BXGD016028 Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly C1861313 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016029 Short philtrum C1861324 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 182 BXGD016030 Progressive conductive hearing impairment C1861325 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding HP:0000598 Abnormality of the ear T033 Finding 3 BXGD016031 Stapes ankylosis C1861326 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 4 BXGD016032 Hypoplastic nasal septum C1861328 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD016033 Spinal canal stenosis C1861329 disease C05 Musculoskeletal Diseases Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 35 BXGD016034 Limited pronation/supination of forearm C1861331 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 7 BXGD016035 Aplasia/Hypoplasia of the distal phalanges of the hand C1861336 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 6 BXGD016036 Absent distal phalanges C1861339 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD016037 Absent distal interphalangeal creases C1861349 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 6 BXGD016038 Syndactyly, Type IV C1861355 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD016039 6 metacarpals C1861360 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD016040 Y-shaped metacarpals C1861373 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD016041 2nd-5th toe middle phalangeal hypoplasia C1861376 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD016042 Syndactyly, Type I C1861380 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD016043 SYMPHALANGISM, PROXIMAL C1861385 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 4 BXGD016044 Short 5th metacarpal C1861388 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 10 BXGD016045 Variable expressivity C1861403 phenotype Finding T033 Finding 319 BXGD016046 Facial hemangioma C1861443 phenotype C04 Neoplasms Finding HP:0002664;HP:0000152;HP:0001626 Neoplasm; Abnormality of head or neck; Abnormality of the cardiovascular system T033 Finding 9 BXGD016047 Stormorken Syndrome C1861451 disease C23;C16;C11;C17;C10;F03;C15 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD016048 Storm Syndrome C1861452 disease C16;C18;C17;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016049 Pseudohyperkalemia Cardiff C1861453 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 218 BXGD016050 STOMATOCYTOSIS I C1861455 disease C16;C18;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD016051 Stiff Skin Syndrome C1861456 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016052 PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY C1861457 disease C23;C01;C05;C10 Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD016053 Stickler syndrome, type 3 C1861481 disease C17;C05 Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016054 COLCHICINE RESISTANCE C1861502 phenotype Disease or Syndrome T047 Disease or Syndrome 13 BXGD016055 Cochleosaccular degeneration of the inner ear and progressive cataracts C1861512 disease C23;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016056 Moderately short stature C1861519 phenotype Finding HP:0001507 Growth abnormality T033 Finding 5 BXGD016057 Blepharo-cheilo-dontic syndrome C1861536 disease C16;C11;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 2 BXGD016058 OROFACIAL CLEFT 1 C1861537 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630;DOID:225;DOID:0080015 genetic disease; syndrome; physical disorder T047 Disease or Syndrome 28 BXGD016059 Cirrhosis, Familial C1861556 disease C23;C16;C06 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016060 CHROMATE RESISTANCE (disorder) C1861559 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD016061 Butterfly vertebral arch C1861627 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD016062 CHLORPROPAMIDE-ALCOHOL FLUSHING C1861630 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 1 BXGD016063 Charcot-Marie-Tooth disease and deafness C1861669 disease C23;C16;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016064 Cold-induced muscle cramps C1861675 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 2 BXGD016065 KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT C1861689 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225;DOID:0080015 genetic disease; disease of anatomical entity; syndrome; physical disorder T047 Disease or Syndrome 6 BXGD016066 EAR WAX, WET/DRY C1861696 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD016067 Anomalous rib insertion to vertebrae C1861704 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD016068 Calcaneal epiphyseal stippling C1861708 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD016069 Cerebral sarcoma C1861714 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD016070 SPINOCEREBELLAR ATAXIA 29 C1861732 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD016071 Dementia, familial Danish C1861735 disease C23;C11;C10;F03;C09 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 10 BXGD016072 SPINOCEREBELLAR ATAXIA 31 (disorder) C1861736 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 13 BXGD016073 Multiminicore Disease, Moderate, with Hand Involvement C1861753 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD016074 Hepatic vascular malformations C1861790 phenotype Finding HP:0025031;HP:0001626 Abnormality of the digestive system; Abnormality of the cardiovascular system T033 Finding 1 BXGD016075 Retinal vascular malformation C1861791 phenotype Finding HP:0000478;HP:0001626 Abnormality of the eye; Abnormality of the cardiovascular system T033 Finding 1 BXGD016076 CATARACT, MARNER TYPE C1861821 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 63 BXGD016077 CATARACT, POSTERIOR POLAR, 1 C1861825 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016078 Cataract, Nuclear Diffuse Nonprogressive C1861827 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016079 Cataract, Zonular Pulverulent 1 C1861828 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD016080 Cataract microcornea syndrome C1861829 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD016081 CATARACT, CRYSTALLINE ACULEIFORM C1861832 phenotype C11 Eye Diseases Finding HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T033 Finding 1 BXGD016082 PARAGANGLIOMAS 4 C1861848 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process DOID:630;DOID:7;DOID:14566 genetic disease; disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD016083 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) C1861861 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 21 BXGD016084 Familial Hypertrophic Cardiomyopathy Type 4 C1861862 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD016085 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder) C1861863 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD016086 Cardiomyopathy, Familial Hypertrophic, 2 C1861864 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD016087 Aplasia/Hypoplasia of the corpus callosum C1861866 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 108 BXGD016088 Underdeveloped supraorbital ridges C1861869 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 53 BXGD016089 Multiple palmar creases C1861872 phenotype Finding HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T033 Finding 4 BXGD016090 Multiple plantar creases C1861873 phenotype Finding HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T033 Finding 3 BXGD016091 Subacute progressive viral hepatitis C1861901 phenotype Finding HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T033 Finding 9 BXGD016092 Breast Cancer, Familial Male C1861906 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD016093 Cutaneous syndactyly C1861921 phenotype C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 17 BXGD016094 CAMPOMELIC DYSPLASIA C1861922 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 68 BXGD016095 Cafe au lait spots, multiple C1861975 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 61 BXGD016096 Heart Block, Nonprogressive C1861983 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016097 Cardiac Conduction Defect, Nonprogressive C1861984 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016098 Cochlear malformation C1862050 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 5 BXGD016099 Short 4th toe C1862083 phenotype Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 1 BXGD016100 Bilateral single transverse palmar creases C1862095 phenotype Finding HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T033 Finding 65 BXGD016101 Aplasia of the middle phalanx of the hand C1862096 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD016102 BRACHYDACTYLY, TYPE E1 C1862102 phenotype C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:7 disease of anatomical entity T033 Finding 5 BXGD016103 Brachydactyly type C C1862103 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 19 BXGD016104 BRACHYDACTYLY, TYPE B1 C1862112 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:7 disease of anatomical entity T019 Congenital Abnormality 6 BXGD016105 Decreased finger mobility C1862133 phenotype C05 Musculoskeletal Diseases Finding HP:0040064 Abnormality of limbs T033 Finding 1 BXGD016106 Abnormality of the tarsal bones C1862136 phenotype C05 Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD016107 Short 2nd finger C1862142 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 7 BXGD016108 Aplasia/Hypoplasia of the middle phalanx of the 2nd finger C1862144 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 5 BXGD016109 Medially deviated second toe C1862147 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD016110 BRACHYDACTYLY, TYPE A1 (disorder) C1862151 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 8 BXGD016111 Proportionate shortening of all digits C1862157 phenotype Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 4 BXGD016112 Terminal symphalangism of hands C1862158 phenotype C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 4 BXGD016113 Short proximal phalanx of hallux C1862159 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD016114 Brachydactyly with hypertension C1862170 disease C16;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD016115 Diaphyseal medullary stenosis with malignant fibrous histiocytoma C1862177 disease C16;C04;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016116 Cole Carpenter syndrome C1862178 disease C16;C11;C17;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD016117 BLOOD GROUP--WRIGHT ANTIGEN C1862190 phenotype Amino Acid, Peptide, or Protein; Immunologic Factor T129;T116 Immunologic Factor; Amino Acid, Peptide, or Protein 1 BXGD016118 BLOOD GROUP--WALDNER TYPE C1862191 phenotype Finding T033 Finding 1 BXGD016119 Increased circulating gonadotropin level C1862265 phenotype C10;C19 Nervous System Diseases; Endocrine System Diseases Finding HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T033 Finding 34 BXGD016120 Hamartomatous polyp of stomach C1862304 phenotype C06;C04 Digestive System Diseases; Neoplasms Disease or Syndrome HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T047 Disease or Syndrome 3 BXGD016121 Short distal phalanx of the thumb C1862313 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 7 BXGD016122 Basal cell nevus C1862314 disease C04 Neoplasms Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm T191 Neoplastic Process 2 BXGD016123 Ovalocytosis, Malaysian-Melanesian-Filipino Type C1862322 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD016124 Elliptocytosis 4 C1862324 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD016125 SVEINSSON CHORIORETINAL ATROPHY C1862382 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 139 BXGD016126 ATRIAL SEPTAL DEFECT 1 C1862389 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 91 BXGD016127 Cervical segmentation defect C1862415 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD016128 Tombstone-shaped proximal phalanges C1862420 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD016129 Widened distal phalanges C1862421 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD016130 Thoracic platyspondyly C1862428 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD016131 Aryl Hydrocarbon Hydroxylase Inducibility C1862463 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016132 Abnormality of retinal pigmentation C1862475 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 215 BXGD016133 Limited wrist extension C1862481 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 5 BXGD016134 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder) C1862511 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD016135 Familial hypobetalipoproteinemia C1862596 E78.6 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 12 BXGD016136 Stahl ear C1862689 disease Congenital Abnormality HP:0000598 Abnormality of the ear T019 Congenital Abnormality 2 BXGD016137 Anterior segment mesenchymal dysgenesis C1862839 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 13 BXGD016138 Sparse body hair C1862863 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 57 BXGD016139 Ankyloblepharon filiforme adnatum and cleft palate C1862866 disease C16;C11;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD016140 ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS C1862871 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD016141 ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE C1862874 phenotype Finding T033 Finding 1 BXGD016142 Hereditary Angioedema Type II C1862892 disease C17;C20;C14 Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD016143 ANEURYSM, INTRACRANIAL BERRY, 1 (disorder) C1862932 disease C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD016144 AMYOTROPHIC LATERAL SCLEROSIS 1 C1862939 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 164 BXGD016145 Amyotrophic Lateral Sclerosis, Sporadic C1862941 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 173 BXGD016146 Generalized amyloid deposition C1862968 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 6 BXGD016147 Yellow-brown discoloration of the teeth C1863008 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 7 BXGD016148 ALZHEIMER DISEASE 2 C1863051 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 16 BXGD016149 ALZHEIMER DISEASE, FAMILIAL, 1 C1863052 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD016150 Episodic hemiplegia C1863061 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD016151 Episodic quadriplegia C1863062 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 2 BXGD016152 Dysalbuminemic Hyperthyroxinemia C1863119 disease C16;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016153 Choroid plexus calcification C1863184 phenotype Pathologic Function HP:0000707;HP:0000924 Abnormality of the nervous system; Abnormality of the skeletal system T046 Pathologic Function 2 BXGD016154 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder) C1863198 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD016155 Lacrimal gland hypoplasia C1863200 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 3 BXGD016156 ADULT SYNDROME C1863204 disease C23;C16;C11;C17;C05;C07 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 6 BXGD016157 Adenosine Triphosphate, Elevated, Of Erythrocytes C1863224 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016158 SCID Due to ADA Deficiency, Early-Onset C1863236 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD016159 Partial adenosine deaminase deficiency C1863239 disease C16;C18;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD016160 Absent specific antibody response C1863246 phenotype Finding HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T033 Finding 1 BXGD016161 Acropectorovertebral Dysplasia, F-Form C1863307 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016162 Elongated sella turcica C1863311 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 1 BXGD016163 Tall lumbar vertebral bodies C1863313 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD016164 Cervical instability C1863314 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD016165 Crowded carpal bones C1863317 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD016166 PITUITARY ADENOMA PREDISPOSITION (disorder) C1863340 disease Finding DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T033 Finding 2 BXGD016167 Calvarial hyperostosis C1863351 phenotype C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 10 BXGD016168 Hypoplastic vertebral bodies C1863353 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 11 BXGD016169 Cartilaginous trachea C1863363 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 2 BXGD016170 Absent first metatarsal C1863382 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD016171 Apert-Crouzon Disease C1863389 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD016172 Abnormal morphology of the limbic system C1863392 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD016173 Acrobrachycephaly C1863395 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 1 BXGD016174 Broad distal phalanx of the thumb C1863402 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 4 BXGD016175 Broad distal hallux C1863403 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD016176 Anomalous tracheal cartilage C1863406 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 2 BXGD016177 Juvenile posterior subcapsular lenticular opacities C1863408 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD016178 Retinal hamartoma C1863411 disease Neoplastic Process HP:0002664;HP:0000152;HP:0000478 Neoplasm; Abnormality of head or neck; Abnormality of the eye T191 Neoplastic Process 4 BXGD016179 Autosomal dominant compelling helio ophthalmic outburst syndrome C1863416 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 26 BXGD016180 Lumbar kyphosis in infancy C1863423 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD016181 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE C1863512 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 19 BXGD016182 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 C1863551 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016183 Young Simpson syndrome C1863557 disease C23;C16;C11;C05;C10;C19;F03;F01;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 2 BXGD016184 Hereditary Myopathy with Early Respiratory Failure C1863599 disease C16;C05;C08;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD016185 PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY (finding) C1863600 disease Finding T033 Finding 1 BXGD016186 Unilateral vestibular Schwannoma C1863653 phenotype C04;C10;C09 Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding HP:0000707;HP:0002664;HP:0000598 Abnormality of the nervous system; Neoplasm; Abnormality of the ear T033 Finding 1 BXGD016187 DEAFNESS, AUTOSOMAL DOMINANT 17 C1863659 disease C23;C10;C09;C15 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016188 Xanthinuria, Type II C1863688 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD016189 Spastic paraplegia 8, autosomal dominant C1863704 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD016190 Severe B lymphocytopenia C1863715 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 6 BXGD016191 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 C1863727 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD016192 Spondyloepimetaphyseal dysplasia with multiple dislocations C1863732 disease C16;C05;C26 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 2 BXGD016193 Caudal interpedicular narrowing C1863734 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD016194 Narrow femoral neck C1863739 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD016195 Carpal bone hypoplasia C1863749 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 10 BXGD016196 Enlarged Vestibular Aqueduct C1863752 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding HP:0000598 Abnormality of the ear DOID:7 disease of anatomical entity T033 Finding 4 BXGD016197 LIMB-MAMMARY SYNDROME C1863753 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 120 BXGD016198 Light Fixation Seizure Syndrome C1863767 disease C23;C16;C11;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 3 BXGD016199 Neuronal intranuclear inclusion disease C1863843 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD016200 Adult-onset citrullinemia type 2 C1863844 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 14 BXGD016201 Coloboma of superior eyelid C1863872 phenotype Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 6 BXGD016202 Arhinia, choanal atresia, and microphthalmia C1863878 disease C16;C11;C08;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD016203 Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome C1863924 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD016204 Nonmedullary thyroid carcinoma, with or without cell oxyphilia C1863925 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD016205 Hyperthyroidism, Familial Gestational C1863959 disease C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD016206 Thyroid Adenoma, Hyperfunctioning C1863960 disease C19 Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD016207 Thyroid Carcinoma With Thyrotoxicosis C1863961 disease C19 Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD016208 Peroxisome Biogenesis Disorder, Complementation Group D C1863999 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 16 BXGD016209 GRACILE SYNDROME (disorder) C1864002 disease C23;C16;C06;C18;C13;C12 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD016210 Cerebral Cavernous Malformations 3 C1864040 disease C23;C16;C05;C10;F03;C07;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD016211 CEREBRAL CAVERNOUS MALFORMATIONS 2 C1864041 disease C23;C16;C05;C10;F03;C07;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD016212 PSEUDOHYPOPARATHYROIDISM, TYPE IB C1864100 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 13 BXGD016213 Low urinary cyclic AMP response to PTH administration C1864105 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 3 BXGD016214 MYOPIA 3 (disorder) C1864111 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD016215 HUNTINGTON DISEASE-LIKE 1 C1864112 disease C16;C10;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD016216 SCHIZOPHRENIA 8 (disorder) C1864124 disease Mental or Behavioral Dysfunction DOID:630;DOID:150 genetic disease; disease of mental health T048 Mental or Behavioral Dysfunction 2 BXGD016217 Peroxisome Biogenesis Disorder, Complementation Group G C1864172 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 10 BXGD016218 Macular Degeneration, Age-Related, 1 C1864205 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD016219 ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) C1864233 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 11 BXGD016220 Prolonged miniature endplate currents C1864238 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD016221 Endotoxin Hyporesponsiveness C1864267 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016222 Fibular overgrowth C1864298 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD016223 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE C1864356 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD016224 Acromesomelia C1864365 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 5 BXGD016225 Long hallux C1864375 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 7 BXGD016226 PREMATURE CHROMATID SEPARATION TRAIT C1864389 disease Disease or Syndrome T047 Disease or Syndrome 19 BXGD016227 Peroxisome Biogenesis Disorder, Complementation Group 7 C1864399 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD016228 Muenke Syndrome C1864436 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD016229 Histiocytosis with joint contractures and sensorineural deafness C1864445 disease C23;C05;C10;C09;C15 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 6 BXGD016230 Retinitis Pigmentosa 25 C1864446 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD016231 Limited neck flexion C1864449 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 3 BXGD016232 PSORIASIS 2 C1864497 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD016233 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE C1864498 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD016234 Insulin insensitivity C1864570 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 2 BXGD016235 Type 2 muscle fiber atrophy C1864580 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 14 BXGD016236 Frontal balding C1864584 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 4 BXGD016237 RETINITIS PIGMENTOSA 36 C1864621 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD016238 DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder) C1864623 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 2 BXGD016239 GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY C1864651 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD016240 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate C1864652 disease C23;C16;C11;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 4 BXGD016241 NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY C1864669 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD016242 Neuronal Ceroid Lipofuscinosis, Congenital C1864670 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD016243 Complement Component 7 Deficiency C1864694 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD016244 Thenar muscle atrophy C1864715 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 7 BXGD016245 Intrinsic hand muscle atrophy C1864716 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 11 BXGD016246 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency C1864723 disease C23;C18;C10;C14 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD016247 Polyposis Syndrome, Hereditary Mixed, 2 C1864730 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome T047 Disease or Syndrome 1 BXGD016248 Thyroid Hormone Metabolism, Abnormal C1864761 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD016249 Normal kidneys C1864785 phenotype Finding T033 Finding 3 BXGD016250 Superior pectus carinatum C1864795 phenotype C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Finding HP:0000924 Abnormality of the skeletal system T033 Finding 5 BXGD016251 Pectus excavatum of inferior sternum C1864796 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 5 BXGD016252 TRICHILEMMAL CYST 1 C1864801 disease C04 Neoplasms Disease or Syndrome T047 Disease or Syndrome 2 BXGD016253 Epidermolysis bullosa, lethal acantholytic C1864826 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016254 HOLOPROSENCEPHALY 5 C1864827 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225;DOID:0080015 genetic disease; disease of anatomical entity; syndrome; physical disorder T047 Disease or Syndrome 3 BXGD016255 ALZHEIMER DISEASE 10 C1864828 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD016256 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (disorder) C1864846 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD016257 RETINAL CONE DYSTROPHY 4 C1864849 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD016258 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 C1864850 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD016259 Pigmented Nodular Adrenocortical Disease, Primary, 2 C1864851 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD016260 CATSHL syndrome C1864852 disease C23;C16;C05;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD016261 Increased vertebral height C1864853 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 7 BXGD016262 Broad femoral metaphyses C1864854 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD016263 Night Blindness, Congenital Stationary, Autosomal Dominant 1 C1864869 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016264 Night Blindness, Congenital Stationary, Autosomal Dominant 3 C1864870 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016265 Chromosome 17q21.31 Deletion Syndrome C1864871 disease C23;C16;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 4 BXGD016266 Testicular Microlithiasis C1864873 disease C23;C12;C19 Pathological Conditions, Signs and Symptoms; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 6 BXGD016267 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder) C1864877 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD016268 HEPATITIS B VIRUS, SUSCEPTIBILITY TO C1864880 disease Finding T033 Finding 1 BXGD016269 Hyperinsulinemic hypoglycemia, familial, 7 C1864902 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD016270 Hyperinsulinemic hypoglycemia C1864903 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939;HP:0000818 Abnormality of metabolism/homeostasis; Abnormality of the endocrine system T047 Disease or Syndrome 52 BXGD016271 Exercise-induced hyperinsulinism C1864904 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD016272 Glutamine deficiency, congenital C1864910 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016273 2-Methylbutyryl-CoA Dehydrogenase Deficiency C1864912 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016274 Cerebellar atrophy, progressive C1864929 phenotype Finding T033 Finding 1 BXGD016275 Natural Killer Cell Deficiency, Familial Isolated C1864947 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016276 Hyperinsulinemic Hypoglycemia, Familial, 4 C1864948 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD016277 Hyperinsulinemic Hypoglycemia, Familial, 5 C1864952 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD016278 Fasting hyperinsulinemia C1864954 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939;HP:0000818 Abnormality of metabolism/homeostasis; Abnormality of the endocrine system T033 Finding 10 BXGD016279 Osteomyelitis leading to amputation due to slow healing fractures C1864975 phenotype C01;C05 Infections; Musculoskeletal Diseases Finding HP:0002715;HP:0000924 Abnormality of the immune system; Abnormality of the skeletal system T033 Finding 3 BXGD016280 Migraine, Familial Hemiplegic, 3 C1864987 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD016281 Majeed syndrome C1864997 M04.8 disease C16;C01;C05;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Musculoskeletal Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD016282 Long philtrum C1865014 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 282 BXGD016283 Thin upper lip vermilion C1865017 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 211 BXGD016284 Short QT Syndrome 3 C1865018 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD016285 SHORT QT SYNDROME 2 (disorder) C1865019 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD016286 Short QT Syndrome 1 C1865020 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD016287 Hypoplastic iliac wing C1865027 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 22 BXGD016288 Hypoplastic pubic bone C1865030 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 10 BXGD016289 Cone-shaped epiphysis C1865037 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 49 BXGD016290 Broad toe C1865038 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 11 BXGD016291 Cupped ribs C1865039 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 4 BXGD016292 Molar tooth sign on MRI C1865060 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 35 BXGD016293 SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION C1865070 disease C23;C16;C05;C10;F03;C07;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD016294 Congenital disorder of glycosylation type 1B C1865145 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD016295 Spondyloepimetaphyseal Dysplasia, Shohat Type C1865185 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016296 Bell-shaped thorax C1865186 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 26 BXGD016297 Mild splenomegaly C1865190 phenotype Finding T033 Finding 1 BXGD016298 Delayed epiphyseal ossification C1865200 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 13 BXGD016299 Muscular Dystrophy, Congenital, Megaconial Type C1865233 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD016300 ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS C1865234 disease C23;C16;C17;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016301 Shallow orbits C1865244 phenotype C11 Eye Diseases Finding HP:0000152;HP:0000478;HP:0000924 Abnormality of head or neck; Abnormality of the eye; Abnormality of the skeletal system T033 Finding 20 BXGD016302 Global glomerulosclerosis C1865276 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 2 BXGD016303 Fetal polyuria C1865279 phenotype Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 10 BXGD016304 Megalencephaly cutis marmorata telangiectatica congenita C1865285 disease C16;C17;C05;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD016305 Hyperinsulinemic hypoglycemia, familial, 3 C1865290 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD016306 Nonketotic hypoglycemia C1865292 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 11 BXGD016307 Auriculo-condylar syndrome C1865295 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD016308 Cleft at the superior portion of the pinna C1865302 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 2 BXGD016309 Overfolding of the superior helices C1865304 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 10 BXGD016310 Hypoplastic superior helix C1865305 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 4 BXGD016311 Speech articulation difficulties C1865313 phenotype Finding HP:0001608 Abnormality of the voice T033 Finding 23 BXGD016312 Abnormality of the temporomandibular joint C1865318 phenotype Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD016313 MIGRAINE, FAMILIAL HEMIPLEGIC, 2 C1865322 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD016314 Migraine, Familial Basilar C1865323 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD016315 Transient unilateral blurring of vision C1865332 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 2 BXGD016316 OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE C1865343 disease C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 26 BXGD016317 Ethylmalonic encephalopathy C1865349 disease C23;C16;C18;C10;C15 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 26 BXGD016318 Ethylmalonic aciduria C1865353 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 6 BXGD016319 SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES C1865361 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD016320 Severe combined immunodeficiency with sensitivity to ionizing radiation C1865370 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD016321 SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE C1865371 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD016322 Athabaskan severe combined immunodeficiency C1865372 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016323 SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL C1865373 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016324 Amyotrophy, monomelic C1865384 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD016325 Amyotrophic Lateral Sclerosis 4, Juvenile C1865409 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 8 BXGD016326 Abnormal lower motor neuron morphology C1865412 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 23 BXGD016327 GLAUCOMA 1, OPEN ANGLE, D (disorder) C1865427 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD016328 VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF C1865433 phenotype Finding T033 Finding 1 BXGD016329 HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO C1865553 phenotype Finding T033 Finding 1 BXGD016330 Aplasia/Hypoplasia of the ulna C1865571 phenotype Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 6 BXGD016331 Proximal placement of thumb C1865572 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 32 BXGD016332 Desmosterolosis C1865596 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016333 Hypoplastic nasal bridge C1865597 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 3 BXGD016334 Alveolar ridge overgrowth C1865598 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 5 BXGD016335 HEMOCHROMATOSIS, TYPE 2A C1865614 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD016336 HEMOCHROMATOSIS, TYPE 2B C1865616 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD016337 Cholestasis, progressive familial intrahepatic 3 C1865643 disease C06 Digestive System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD016338 Spondylometaphyseal dysplasia, axial C1865695 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016339 RHYNS syndrome C1865794 disease C16;C11;C10;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD016340 Peroxisome Biogenesis Disorder, Complementation Group 1 C1865803 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD016341 Spondyloepimetaphyseal Dysplasia, Missouri Type C1865832 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016342 Flared, irregular rib ends C1865833 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD016343 Flared iliac wings C1865841 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 19 BXGD016344 Ulnar bowing C1865847 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 12 BXGD016345 Congenital sensorineural hearing loss C1865866 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality HP:0000598 Abnormality of the ear T019 Congenital Abnormality 68 BXGD016346 ALZHEIMER DISEASE 5 C1865868 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 18 BXGD016347 CONE DYSTROPHY 3 (disorder) C1865869 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD016348 Deafness, Autosomal Recessive 18 C1865870 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016349 HEMANGIOMA, CAPILLARY INFANTILE C1865871 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome T047 Disease or Syndrome 7 BXGD016350 NEPHRONOPHTHISIS 2 C1865872 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 14 BXGD016351 Renal cortical microcysts C1865877 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 5 BXGD016352 Usher Syndrome, Type IF C1865885 disease C23;C16;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD016353 Long-tract signs C1865903 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 9 BXGD016354 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 C1865915 disease C23;C16;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD016355 Bilateral ptosis C1865916 phenotype C11 Eye Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 50 BXGD016356 Restrictive external ophthalmoplegia C1865918 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 3 BXGD016357 Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) C1865926 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD016358 Hypomagnesemia 1, Intestinal C1865974 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 6 BXGD016359 Short hallux C1865992 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 23 BXGD016360 Proximal muscle weakness in lower limbs C1866010 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 30 BXGD016361 Proximal muscle weakness in upper limbs C1866012 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 22 BXGD016362 Proximal upper limb amyotrophy C1866013 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 9 BXGD016363 Increased connective tissue C1866021 phenotype Finding HP:0003549 Abnormality of connective tissue T033 Finding 16 BXGD016364 Honeycomb palmoplantar keratoderma C1866032 phenotype C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 3 BXGD016365 EPISODIC ATAXIA, TYPE 5 C1866039 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD016366 DIABETES MELLITUS, INSULIN-DEPENDENT, 10 C1866040 disease C18;C20;C19 Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 1 BXGD016367 Deafness, Congenital Heart Defects, and Posterior Embryotoxon C1866053 disease C23;C16;C10;C09;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016368 OROFACIAL CLEFT 10 C1866070 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality DOID:225;DOID:0080015 syndrome; physical disorder T019 Congenital Abnormality 1 BXGD016369 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder) C1866075 disease C13;C12;C20 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016370 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 C1866077 phenotype Finding T033 Finding 1 BXGD016371 Left-Right Axis Malformations C1866091 disease C16;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016372 Deafness, Autosomal Dominant 13 C1866095 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD016373 Autoimmune Lymphoproliferative Syndrome, Type IA C1866119 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD016374 Autoimmune Lymphoproliferative Syndrome, Type IB C1866120 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD016375 Abnormality of the cerebellum C1866129 group C10 Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 55 BXGD016376 Rhombencephalosynapsis C1866130 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 4 BXGD016377 Fusion of the cerebellar hemispheres C1866131 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 6 BXGD016378 Wide anterior fontanel C1866134 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 71 BXGD016379 Foot dorsiflexor weakness C1866141 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 70 BXGD016380 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 C1866173 phenotype Finding T033 Finding 9 BXGD016381 Phosphoglycerate Dehydrogenase Deficiency C1866174 disease C23;C16;C18;C05;C10;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 7 BXGD016382 Horizontal pendular nystagmus C1866180 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 7 BXGD016383 Penttinen-Aula syndrome C1866182 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016384 Atresia of the external auditory canal C1866190 disease Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 44 BXGD016385 Downturned corners of mouth C1866195 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 122 BXGD016386 Dysplastic pulmonary valve C1866206 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 3 BXGD016387 Dysplastic aortic valve C1866207 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 3 BXGD016388 Full cheeks C1866231 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 103 BXGD016389 Broad foot C1866241 phenotype C05 Musculoskeletal Diseases Finding HP:0040064 Abnormality of limbs T033 Finding 30 BXGD016390 Hyperpigmented streaks C1866245 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 2 BXGD016391 Sparse anterior scalp hair C1866246 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 1 BXGD016392 Peroxisome Biogenesis Disorder, Complementation Group H C1866260 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 6 BXGD016393 CEROID LIPOFUSCINOSIS, NEURONAL, 6 C1866282 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 9 BXGD016394 Motor deterioration C1866284 phenotype F03 Mental Disorders Finding HP:0000707 Abnormality of the nervous system T033 Finding 14 BXGD016395 Pten Hamartoma Tumor Syndrome With Granular Cell Tumor C1866376 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process DOID:630;DOID:7 genetic disease; disease of anatomical entity T191 Neoplastic Process 3 BXGD016396 Proteus-Like Syndrome (disorder) C1866398 disease C16;C04;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD016397 Quebec platelet disorder C1866423 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD016398 T-cell immunodeficiency, congenital alopecia and nail dystrophy C1866426 disease C23;C16;C18;C17;C20 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016399 NOVELTY SEEKING PERSONALITY TRAIT C1866430 phenotype Finding T033 Finding 1 BXGD016400 OBESITY, SUSCEPTIBILITY TO C1866432 phenotype Finding DOID:630 genetic disease T033 Finding 1 BXGD016401 Prominent nasolabial fold C1866487 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 6 BXGD016402 Bartter syndrome, antenatal type 1 C1866495 disease C13;C12;C19 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD016403 Renal juxtaglomerular cell hypertrophy/hyperplasia C1866496 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 2 BXGD016404 Hyperprostaglandinuria C1866498 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 2 BXGD016405 Low-to-normal blood pressure C1866500 phenotype C14 Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 4 BXGD016406 Photosensitive Trichothiodystrophy C1866504 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 4 BXGD016407 GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC C1866550 disease Finding T033 Finding 1 BXGD016408 PARAGANGLIOMAS 2 (disorder) C1866552 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome DOID:630;DOID:7;DOID:14566 genetic disease; disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 3 BXGD016409 Neural tube defect, folate-sensitive C1866558 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:0080015 physical disorder T047 Disease or Syndrome 8 BXGD016410 Spina Bifida, Folate-Sensitive C1866559 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:0080015 physical disorder T047 Disease or Syndrome 5 BXGD016411 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C C1866636 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD016412 Steinfeld Syndrome C1866649 disease C16;C05;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016413 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder) C1866656 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD016414 Spondylometaphyseal dysplasia, Algerian type C1866688 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016415 Short sacroiliac notch C1866689 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 4 BXGD016416 Irregular, rachitic-like metaphyses C1866700 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD016417 Severe carpal ossification delay C1866703 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD016418 Delayed pubic bone ossification C1866710 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD016419 Rhizomelia C1866730 disease Congenital Abnormality HP:0040064;HP:0000924;HP:0001507 Abnormality of limbs; Abnormality of the skeletal system; Growth abnormality T019 Congenital Abnormality 57 BXGD016420 Pear-shaped vertebrae C1866731 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD016421 Lateral femoral bowing C1866737 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD016422 Spinocerebellar tract degeneration C1866751 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 15 BXGD016423 Impaired horizontal smooth pursuit C1866753 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 7 BXGD016424 Abnormal nerve conduction velocity C1866772 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD016425 Unilateral ptosis C1866806 phenotype C11 Eye Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 6 BXGD016426 Spastic paraplegia 4, autosomal dominant C1866855 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 10 BXGD016427 Reduced tendon reflexes C1866934 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 121 BXGD016428 Aortic root dilation C1866956 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD016429 Sella Turcica, Bridged C1866959 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD016430 Social and occupational deterioration C1866986 phenotype F03 Mental Disorders Finding HP:0000707 Abnormality of the nervous system T033 Finding 13 BXGD016431 Ulnar-mammary syndrome C1866994 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 8 BXGD016432 Hypoplastic/absent/deformed radius C1867000 phenotype Finding T033 Finding 1 BXGD016433 Axillary apocrine gland hypoplasia C1867003 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD016434 Restricted neck movement due to contractures C1867006 phenotype Finding HP:0000152;HP:0000924;HP:0003549;HP:0003011 Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T033 Finding 3 BXGD016435 Enlarged lacrimal glands C1867030 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD016436 Systemic granulomatous disease C1867047 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD016437 Lacrimal Puncta, Absence of C1867060 disease C11 Eye Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 6 BXGD016438 Limited elbow extension C1867103 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 26 BXGD016439 Craniofacial disproportion C1867114 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 9 BXGD016440 Broad hallux C1867131 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 48 BXGD016441 Plantar crease between first and second toes C1867132 phenotype Finding HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T033 Finding 2 BXGD016442 Upper limb postural tremor C1867138 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 8 BXGD016443 RING DERMOID OF CORNEA C1867155 disease C04;C11 Neoplasms; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016444 Rhabdomyosarcoma, Embryonal, 2 C1867234 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD016445 Retinitis Pigmentosa 10 C1867299 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD016446 RETINITIS PIGMENTOSA 9 C1867300 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 10 BXGD016447 RETINAL CONE DYSTROPHY 1 C1867326 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD016448 RETINAL ARTERIES, TORTUOSITY OF C1867327 phenotype Finding T033 Finding 1 BXGD016449 RADIAL-RENAL SYNDROME C1867396 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD016450 Pyloric Stenosis, Infantile Hypertrophic 1 C1867403 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD016451 Elevated right atrial pressure C1867421 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 1 BXGD016452 Increased pulmonary vascular resistance C1867423 phenotype Finding HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system T033 Finding 4 BXGD016453 Pulmonary artery vasoconstriction C1867424 phenotype Finding HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system T033 Finding 1 BXGD016454 Pterygium, Antecubital C1867439 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0001574;HP:0000924 Abnormality of the integument; Abnormality of the skeletal system T047 Disease or Syndrome 3 BXGD016455 Pterygium Of Conjunctiva And Cornea C1867441 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 169 BXGD016456 Multiple pterygia C1867448 phenotype C11 Eye Diseases Finding HP:0001574;HP:0000924 Abnormality of the integument; Abnormality of the skeletal system T033 Finding 4 BXGD016457 Pseudoxanthoma Elasticum, Incomplete C1867450 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD016458 Pseudoxanthoma Elasticum, Heterozygous C1867451 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016459 Peau d'orange retinal changes C1867453 phenotype Finding T033 Finding 1 BXGD016460 Apnea, Postanesthetic C1867468 phenotype C23;C16;C18;C08 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases Pathologic Function T046 Pathologic Function 1 BXGD016461 Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type C1867469 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016462 Childhood onset short-limb short stature C1867487 phenotype Finding HP:0001507 Growth abnormality T033 Finding 2 BXGD016463 Fragmented, irregular epiphyses C1867494 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD016464 CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT C1867563 disease Finding T033 Finding 1 BXGD016465 SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY C1867564 disease Finding T033 Finding 1 BXGD016466 Hyperprothrombinemia C1867596 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD016467 Dermoid choristoma of eye proper C1867616 disease C11 Eye Diseases Neoplastic Process HP:0000152;HP:0000478 Abnormality of head or neck; Abnormality of the eye T191 Neoplastic Process 3 BXGD016468 Hypertrophy of skin of soles C1867617 phenotype Finding HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T033 Finding 1 BXGD016469 Warfarin-induced skin necrosis C1867638 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 2 BXGD016470 Premature coronary artery atherosclerosis C1867743 phenotype C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 87 BXGD016471 CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 C1867773 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 10 BXGD016472 Poor fine motor coordination C1867864 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 31 BXGD016473 Failure to thrive in infancy C1867873 phenotype Finding HP:0001507 Growth abnormality T033 Finding 97 BXGD016474 LONG QT SYNDROME 5 C1867904 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016475 Posterior column ataxia C1867923 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016476 Porphyria, Acute Intermittent, Nonerythroid Variant C1867969 disease C16;C06;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD016477 Acute episodes of neuropathic symptoms C1867971 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD016478 KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE II C1867982 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD016479 PORENCEPHALY, FAMILIAL C1867983 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD016480 Polyps, Multiple And Recurrent Inflammatory Fibroid, Gastrointestinal C1868000 disease C06;C04 Digestive System Diseases; Neoplasms Disease or Syndrome T047 Disease or Syndrome 1 BXGD016481 Polyposis Of Gastric Fundus Without Polyposis Coli C1868001 disease C23;C06;C04 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD016482 Precocious puberty with Sertoli cell tumor C1868007 phenotype C19 Endocrine System Diseases Finding HP:0000119;HP:0000818;HP:0002664 Abnormality of the genitourinary system; Abnormality of the endocrine system; Neoplasm T033 Finding 1 BXGD016483 Adenomatous colonic polyposis C1868071 phenotype C06;C04 Digestive System Diseases; Neoplasms Finding HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T033 Finding 13 BXGD016484 Small intestine carcinoid C1868072 disease C04 Neoplasms Neoplastic Process HP:0025031;HP:0000818;HP:0000707;HP:0002664 Abnormality of the digestive system; Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 3 BXGD016485 Juvenile Polyposis Coli C1868081 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 9 BXGD016486 Craniofacial hyperostosis C1868085 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 25 BXGD016487 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC C1868097 disease Finding T033 Finding 2 BXGD016488 Crossed Polydactyly, Type I C1868112 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:0080015 physical disorder T047 Disease or Syndrome 7 BXGD016489 POLYDACTYLY, PREAXIAL II (disorder) C1868114 disease C16;C11;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:0080015 physical disorder T047 Disease or Syndrome 4 BXGD016490 POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA C1868117 disease C16;C11;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD016491 POSTAXIAL POLYDACTYLY, TYPE B C1868120 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:0080015 physical disorder T047 Disease or Syndrome 3 BXGD016492 Medullary cystic kidney disease 1 C1868139 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD016493 PNEUMOTHORAX, PRIMARY SPONTANEOUS C1868193 J93.11 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 46 BXGD016494 Neonatal alloimmune thrombocytopenia (NAIT) C1868251 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD016495 Platelet Aggregation, Spontaneous C1868263 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 3 BXGD016496 Pigmented Paravenous Chorioretinal Atrophy C1868310 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016497 6-Phosphogluconolactonase Deficiency C1868355 disease C16;C18;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016498 Elevated urinary epinephrine C1868393 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 14 BXGD016499 Elevated calcitonin C1868394 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 17 BXGD016500 HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO C1868414 phenotype Finding T033 Finding 1 BXGD016501 Normokalemic Periodic Paralysis, Potassium-Sensitive C1868433 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD016502 Crusting erythematous dermatitis C1868496 disease Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T047 Disease or Syndrome 2 BXGD016503 Orthostatic hypotension due to autonomic dysfunction C1868528 phenotype C10;C14 Nervous System Diseases; Cardiovascular Diseases Finding HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system T033 Finding 16 BXGD016504 Marked delay in bone age C1868549 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD016505 Irregular sclerotic endplates C1868554 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD016506 Ovoid thoracolumbar vertebrae C1868556 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 4 BXGD016507 Patterned dystrophy of retinal pigment epithelium C1868569 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD016508 Highly arched eyebrow C1868571 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 141 BXGD016509 Patella aplasia-hypoplasia C1868577 phenotype C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 20 BXGD016510 Patellar aplasia C1868578 phenotype C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 17 BXGD016511 Perry Syndrome C1868594 disease C23;C08;C10;F01 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 19 BXGD016512 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) C1868595 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016513 Atypical Parkinson Disease C1868596 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 11 BXGD016514 PARIETAL FORAMINA C1868598 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707;HP:0000152;HP:0000924 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system DOID:0080015 physical disorder T019 Congenital Abnormality 20 BXGD016515 Parastremmatic dwarfism C1868616 disease C23;C16;C05;C10;C19;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Congenital Abnormality T019 Congenital Abnormality 1 BXGD016516 Paramyotonia Congenita Without Cold Paralysis C1868619 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016517 Handgrip myotonia C1868623 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 4 BXGD016518 Pancreatitis, Calcific C1868653 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD016519 NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE C1868672 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 31 BXGD016520 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE C1868675 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 67 BXGD016521 PHOTOPAROXYSMAL RESPONSE 1 C1868677 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD016522 THANATOPHORIC DYSPLASIA, TYPE I (disorder) C1868678 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 20 BXGD016523 GRISCELLI SYNDROME, TYPE 2 C1868679 disease C16;C18;C17;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 4 BXGD016524 DYSTONIA 12 C1868681 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD016525 Paroxysmal kinesigenic choreoathetosis C1868682 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 14 BXGD016526 B-CELL MALIGNANCY, LOW-GRADE C1868683 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 350 BXGD016527 EAR, PATELLA, SHORT STATURE SYNDROME C1868684 disease C23;C16;C05;C07;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 78 BXGD016528 Hypoadrenocorticism, familial C1868690 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD016529 Diabetic keratopathy C1868702 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD016530 Behavioural and psychiatric symptoms of dementia C1868717 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 14 BXGD016531 Periventricular Nodular Heterotopia C1868720 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T047 Disease or Syndrome 45 BXGD016532 Anal sphincter hypertonia C1868731 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD016533 Vertebral artery hypoplasia C1868737 disease Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 2 BXGD016534 Numb chin syndrome C1868745 disease C10;C07 Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016535 Diabetic encephalopathy C1868773 disease Disease or Syndrome T047 Disease or Syndrome 21 BXGD016536 Neutrophilic panniculitis C1868810 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD016537 Bronchial wall thickening C1868833 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD016538 Pulmonary arterial hypertension associated with portal hypertension C1868851 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD016539 Uncontrolled hypertension C1868885 disease Disease or Syndrome T047 Disease or Syndrome 14 BXGD016540 Irritable bowel syndrome characterized by constipation C1868889 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD016541 Chemo brain C1868891 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD016542 End stage cardiac failure C1868938 I50.84 disease Disease or Syndrome T047 Disease or Syndrome 76 BXGD016543 Follicular B-cell non-Hodgkin's lymphoma C1868944 disease Neoplastic Process T191 Neoplastic Process 2 BXGD016544 Multiple myeloma progression C1868950 disease Neoplastic Process T191 Neoplastic Process 17 BXGD016545 Adenotonsillitis C1868954 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD016546 Severe cutaneous adverse reactions (SMQ) C1869024 phenotype Classification T185 Classification 2 BXGD016547 Weill-Marchesani Syndrome, Autosomal Recessive C1869114 disease C16;C11;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD016548 Weill-Marchesani Syndrome, Autosomal Dominant C1869115 disease C16;C11;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD016549 ASTHMA, SUSCEPTIBILITY TO (finding) C1869116 disease Finding T033 Finding 4 BXGD016550 Paroxysmal nonkinesigenic dyskinesia C1869117 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 10 BXGD016551 HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS C1869118 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 2 BXGD016552 EHLERS-DANLOS SYNDROME, PROGEROID FORM C1869122 disease C23;C16;C17;C15;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016553 Limb-girdle muscular dystrophy type 2A C1869123 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD016554 Hypotrichosis of the scalp C1873509 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 12 BXGD016555 CEROID LIPOFUSCINOSIS, NEURONAL, 2 C1876161 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 6 BXGD016556 Copper-Overload Cirrhosis C1876165 disease C16;C06;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD016557 Endemic Tyrolean Infantile Cirrhosis C1876166 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 1 BXGD016558 Polyasplenia C1876171 disease C16;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:0080015 genetic disease; physical disorder T047 Disease or Syndrome 3 BXGD016559 VAH, AUTOSOMAL RECESSIVE C1876172 disease Disease or Syndrome DOID:630;DOID:0080015 genetic disease; physical disorder T047 Disease or Syndrome 3 BXGD016560 Heterotaxy, Visceroatrial, Autosomal Recessive C1876173 disease C16;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:0080015 genetic disease; physical disorder T047 Disease or Syndrome 3 BXGD016561 Ataxia-Telangiectasia Variant C1876175 disease C16;C18;C20;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD016562 EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS C1876181 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD016563 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 C1876182 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016564 Dysgnathia complex C1876185 disease C16;C05;C10;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome DOID:0080015 physical disorder T047 Disease or Syndrome 3 BXGD016565 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL C1876187 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 9 BXGD016566 Frontonasal dysplasia C1876203 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 16 BXGD016567 ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT C1876214 disease C16;C18;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 54 BXGD016568 adult nasal type extranodal NK/T-cell lymphoma C1879279 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD016569 childhood nasal type extranodal NK/T-cell lymphoma C1879280 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD016570 Hereditary bundle branch system defect C1879286 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD016571 Agyria C1879312 Q04.3 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system DOID:630;DOID:7;DOID:225;DOID:150;DOID:0080015 genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder T019 Congenital Abnormality 20 BXGD016572 Acute Myeloid Leukemia (AML-M2) C1879321 C92.0 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 143 BXGD016573 Blindness both eyes NOS (disorder) C1879328 H54.0 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD016574 Biliary papillomatosis C1879344 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 20 BXGD016575 Primary malignant neoplasm of endometrium C1879358 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD016576 Hypertyrosinemia C1879362 E70.21 disease Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 13 BXGD016577 Aberrant Crypt Foci C1879526 phenotype C04 Neoplasms Finding T033 Finding 7 BXGD016578 Primary Cutaneous Mucinous Carcinoma C1879641 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD016579 Adverse Event by CTCAE Category C1879645 phenotype Finding T033 Finding 11 BXGD016580 Alcohol Toxicity C1879677 disease Injury or Poisoning T037 Injury or Poisoning 2 BXGD016581 Amegakaryocytosis C1879691 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD016582 Benign Teratoma C1879828 D28 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 10 BXGD016583 Inappropriate sinus tachycardia C1881170 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 1 BXGD016584 Interstitial Disease C1881236 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD016585 Inverted Squamous Cell Papilloma C1881254 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 46 BXGD016586 Lipase Hypersecretion Syndrome C1881406 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 1 BXGD016587 Malignant Vipoma C1881600 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD016588 Nevoid Melanoma C1882081 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD016589 Ovarian Thecoma C1882229 disease Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm T191 Neoplastic Process 4 BXGD016590 Rat Cholangiofibrosis C1882620 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD016591 Salivary Gland Low Grade Cribriform Cystadenocarcinoma C1882972 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD016592 Secondary caries C1882989 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD016593 Serum Alanine Aminotransferase Measurement C1883008 phenotype Laboratory Procedure T059 Laboratory Procedure 41 BXGD016594 Severe Aplastic Anemia C1883018 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 70 BXGD016595 Undifferentiated Carcinoma with Osteoclast-Like Giant Cells C1883424 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD016596 Uterine Corpus Cancer C1883486 disease Neoplastic Process T191 Neoplastic Process 5 BXGD016597 Ventricular Arrhythmia, CTCAE 3.0 C1883529 phenotype Finding T033 Finding 17 BXGD016598 Intraocular Medulloepithelioma C1883694 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD016599 Stage 0a Bladder Urothelial Carcinoma AJCC v6 and v7 C1883722 disease Neoplastic Process T191 Neoplastic Process 2 BXGD016600 Carcinoma Metastatic to the Skin C1947968 disease Neoplastic Process T191 Neoplastic Process 5 BXGD016601 Microdeletion syndromes C1954751 disease Disease or Syndrome T047 Disease or Syndrome 18 BXGD016602 Intravenous bisphosphonates C1955566 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD016603 Deaf-Blind Disorders C1955603 group C23;C16;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD016604 Kaposi's sarcoma-associated herpesvirus infection C1955634 B10.89 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD016605 Extranodal marginal zone B-cell lymphoma C1955690 disease Neoplastic Process T191 Neoplastic Process 23 BXGD016606 Glucocorticoid deficiency C1955741 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD016607 Mineralocorticoid deficiency C1955743 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD016608 Idiopathic normal pressure hydrocephalus (INPH) C1955760 disease Disease or Syndrome T047 Disease or Syndrome 25 BXGD016609 Deaf-Blind Syndromes C1955858 disease C23;C16;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016610 Leukemia, Natural Killer Cell Large Granular Lymphocytic C1955860 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD016611 T-Cell Large Granular Lymphocyte Leukemia C1955861 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 35 BXGD016612 Malformations of Cortical Development C1955869 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 60 BXGD016613 Lymphoma, Extranodal NK-T-Cell C1955906 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 33 BXGD016614 Trichothiodystrophy Syndromes C1955934 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 33 BXGD016615 Osteophyte C1956089 M25.7 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 91 BXGD016616 Paris-Trousseau Thrombocytopenia C1956093 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD016617 Wolf-Hirschhorn Syndrome C1956097 Q93.3 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 34 BXGD016618 Alagille Syndrome 1 C1956125 disease C16;C06;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD016619 Lymphoma, Follicular, Grade 1 C1956130 C82.0 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 22 BXGD016620 Lymphoma, Follicular, Grade 3 C1956131 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 16 BXGD016621 Lymphoma, Follicular, Grade 2 C1956132 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 15 BXGD016622 Microlissencephaly C1956147 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 40 BXGD016623 Pulmonary Stenosis C1956257 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 106 BXGD016624 Familial Thrombotic Thrombocytopenic Purpura C1956258 disease C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD016625 Cavernous Angioma, Central Nervous System C1956260 disease C16;C04;C10;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD016626 Cerebral Venous Angioma C1956261 Q28.3 disease C16;C04;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T019 Congenital Abnormality 4 BXGD016627 Coronary Artery Disease C1956346 I25.1 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 1708 BXGD016628 Cerebral Amyloid Angiopathy, Genetic C1956349 disease C16;C18;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 2 BXGD016629 Cranial Arteritis C1956390 disease C17;C20;C10;C14 Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD016630 Temporal Arteritis C1956391 disease C17;C20;C10;C14 Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD016631 Double Outlet Right Ventricle, Noncommitted VSD C1956410 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 3 BXGD016632 Double Outlet Right Ventricle, Subaortic VSD C1956411 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 3 BXGD016633 Double Outlet Right Ventricle, Subpulmonary VSD C1956412 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 3 BXGD016634 Taussig-Bing Anomaly C1956413 Q20.1 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T019 Congenital Abnormality 4 BXGD016635 Paroxysmal nocturnal dyspnea C1956415 phenotype C23;C08;C14 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD016636 PTEN Hamartoma Tumor Syndrome C1959582 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T191 Neoplastic Process 17 BXGD016637 Myocardial Failure C1959583 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 119 BXGD016638 Cardiac Carcinoma C1959584 disease C04;C14 Neoplasms; Cardiovascular Diseases Neoplastic Process T191 Neoplastic Process 10 BXGD016639 Ventricular Free Wall Rupture C1959587 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016640 Angioma C1959588 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 11 BXGD016641 Angioma, Cavernous C1959589 disease C04;C15;C14 Neoplasms; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 9 BXGD016642 Obscure African cardiomyopathy C1959600 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD016643 Dihydropyrimidine Dehydrogenase Deficiency C1959620 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 7 BXGD016644 Mevalonic Aciduria C1959626 disease C16;C18;C20;C10;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD016645 Plasma Cell Neoplasm C1959632 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 46 BXGD016646 Parvovirus B19 (disease) C1959635 disease Disease or Syndrome T047 Disease or Syndrome 59 BXGD016647 Acute lyme disease C1959859 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD016648 Alcohol consumption during pregnancy C1959897 phenotype Finding T033 Finding 1 BXGD016649 Drug-induced pneumonitis C1960026 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016650 Mild persistent asthma C1960046 J45.3 disease C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016651 Moderate persistent asthma C1960047 J45.40 disease C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD016652 Severe persistent asthma C1960048 J45.5 disease C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD016653 Malignant lymphoma in remission C1960221 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD016654 Latent autoimmune diabetes mellitus in adult C1960272 disease C18;C20;C19 Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 49 BXGD016655 Lymphocytic myocarditis C1960273 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD016656 Nongonococcal cervicitis C1960274 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 5 BXGD016657 Epidermal growth factor receptor negative non-small cell lung cancer C1960396 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD016658 HER2-positive carcinoma of breast C1960398 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 288 BXGD016659 Vasculitic neuropathy C1960443 disease Disease or Syndrome T047 Disease or Syndrome 13 BXGD016660 Hypergonadotropic amenorrhea C1960447 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD016661 Human anaplasmosis C1960454 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016662 Differentiation syndrome due to and following chemotherapy co-occurrent with acute promyelocytic leukemia C1960458 disease C04 Neoplasms Disease or Syndrome T047 Disease or Syndrome 12 BXGD016663 Hereditary angioedema with normal C1 esterase inhibitor activity C1960459 disease C16;C17;C20;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016664 Left ventricular noncompaction C1960469 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 35 BXGD016665 Aromatase deficiency C1960539 disease C16;C18;C13;C17;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD016666 Placental aromatase deficiency C1960540 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD016667 Myxoma of heart C1960546 disease C04;C14 Neoplasms; Cardiovascular Diseases Neoplastic Process HP:0002664;HP:0001626 Neoplasm; Abnormality of the cardiovascular system T191 Neoplastic Process 23 BXGD016668 Dysglycemia C1960636 disease Disease or Syndrome T047 Disease or Syndrome 31 BXGD016669 Transformed migraine C1960870 G43.7 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 43 BXGD016670 Spina bifida aperta of cervical spine C1960883 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 6 BXGD016671 Epidermal growth factor receptor positive non-small cell lung cancer C1960925 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD016672 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma C1961099 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process HP:0002715;HP:0002664;HP:0001871 Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 644 BXGD016673 Precursor Cell Lymphoblastic Leukemia Lymphoma C1961102 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 879 BXGD016674 Heart Decompensation C1961112 phenotype C14 Cardiovascular Diseases Pathologic Function T046 Pathologic Function 113 BXGD016675 Congenital vascular anomaly C1961121 group C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 42 BXGD016676 Gaucher Disease, Type 1 C1961835 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 48 BXGD016677 TRICHOMONAS VAGINALIS (finding) C1962942 disease Disease or Syndrome T047 Disease or Syndrome 56 BXGD016678 Retinopathy, CTCAE C1962966 phenotype Finding T033 Finding 108 BXGD016679 Agitation, CTCAE 3.0 C1963060 phenotype Finding T033 Finding 87 BXGD016680 Bone Pain, CTCAE 3.0 C1963077 phenotype Finding T033 Finding 67 BXGD016681 Dry Skin, CTCAE C1963094 phenotype Finding T033 Finding 137 BXGD016682 Myelodysplasia, CTCAE C1963099 phenotype Finding T033 Finding 68 BXGD016683 Encephalopathy, CTCAE 3.0 C1963101 phenotype Finding T033 Finding 14 BXGD016684 Hepatic Necrosis, CTCAE 3.0 C1963135 phenotype Finding T033 Finding 4 BXGD016685 Malabsorption, CTCAE C1963165 phenotype Finding T033 Finding 175 BXGD016686 Memory Impairment, CTCAE 3.0 C1963167 phenotype Finding T033 Finding 109 BXGD016687 Sinus Bradycardia, CTCAE C1963175 phenotype Finding T033 Finding 20 BXGD016688 Nystagmus, CTCAE 3.0 C1963184 phenotype Finding T033 Finding 779 BXGD016689 Prolonged QTc Interval, CTCAE C1963217 phenotype Finding T033 Finding 25 BXGD016690 Aspiration, CTCAE C1963221 phenotype Finding T033 Finding 13 BXGD016691 Wolff-Parkinson-White Syndrome, CTCAE C1963282 phenotype Finding T033 Finding 2 BXGD016692 Spinocerebellar Ataxia 10 C1963674 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD016693 Oculorespiratory syndrome C1963718 disease C23;C17;C20;C14 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016694 Failed Back Surgery Syndrome C1963763 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 8 BXGD016695 Glycogenic acanthosis C1963768 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD016696 Peripheral nerve lesion C1963788 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD016697 Mucosal pigmentation C1963822 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD016698 Hyperlipasaemia C1963823 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD016699 Mitochondrial enzyme deficiency C1963826 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016700 Lupus enteritis C1963829 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD016701 Varioliform gastritis C1963865 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD016702 Erosive gastroduodenitis C1963899 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD016703 Mechanical phlebitis C1963922 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD016704 Oligoanuria C1963924 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD016705 Punding C1963933 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 7 BXGD016706 Atherothrombosis C1963943 disease Acquired Abnormality T020 Acquired Abnormality 115 BXGD016707 Laryngeal dystonia C1963946 disease C23;C08;C10;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000707;HP:0001608 Abnormality of the nervous system; Abnormality of the voice T047 Disease or Syndrome 17 BXGD016708 Testosterone deficiency C1963961 disease Disease or Syndrome T047 Disease or Syndrome 24 BXGD016709 Severe speech delay C1968537 phenotype Finding T033 Finding 1 BXGD016710 Mental Retardation, X-Linked, Syndromic 13 C1968550 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD016711 Mental Retardation, X-Linked 79 C1968551 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD016712 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS C1968556 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016713 Xeroderma Pigmentosum, Type G-Cockayne Syndrome C1968561 disease C16;C04;C18;C17;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD016714 Defective DNA repair after ultraviolet radiation damage C1968564 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 12 BXGD016715 Numerous pigmented freckles C1968565 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 9 BXGD016716 Hypoplastic lacrimal duct C1968574 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 4 BXGD016717 Progressive calcification of costochondral cartilage C1968577 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD016718 Abnormal calcification of the carpal bones C1968592 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD016719 Limited elbow flexion/extension C1968605 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD016720 Limited knee flexion/extension C1968606 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 5 BXGD016721 Hypoplastic distal humeri C1968607 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD016722 Club-shaped proximal femur C1968611 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD016723 Tubular basement membrane disintegration C1968618 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 4 BXGD016724 Renal corticomedullary cysts C1968619 disease Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 8 BXGD016725 Intimal thickening in the coronary arteries C1968633 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 1 BXGD016726 LEPROSY, SUSCEPTIBILITY TO, 3 C1968668 disease Finding T033 Finding 1 BXGD016727 Hyper-Immunoglobulin E Syndrome, Autosomal Recessive C1968689 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD016728 Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate C1968699 disease C16;C17;C05;C19;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016729 Hypoplasia of the fallopian tube C1968706 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 3 BXGD016730 Increased muscle glycogen content C1968729 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 6 BXGD016731 Glycogen Storage Disease IIIA C1968739 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD016732 Glycogen Storage Disease IIIB C1968740 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD016733 Glycogen Storage Disease IIIC C1968741 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD016734 Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement C1968748 disease C16;C18;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD016735 MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES C1968782 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD016736 Axonal degeneration/regeneration C1968790 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 8 BXGD016737 Plasminogen Deficiency, Type I C1968804 E88.02 disease C16;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD016738 Broad fingertip C1968816 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD016739 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder) C1968843 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016740 Epilepsy, Familial Mesial Temporal Lobe C1968848 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD016741 Pigmented micronodular adrenocortical disease C1968851 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 4 BXGD016742 Paradoxical increased cortisol secretion on dexamethasone suppression test C1968855 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 3 BXGD016743 Abnormal sacral segmentation C1968942 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD016744 Cakut C1968949 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 72 BXGD016745 Subependymal nodules C1968958 phenotype Finding HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm T033 Finding 3 BXGD016746 Cortical tubers C1968959 phenotype Finding HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm T033 Finding 3 BXGD016747 Rib segmentation abnormalities C1968999 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 12 BXGD016748 Lissencephaly 3 C1969029 disease C23;C16;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T047 Disease or Syndrome 1 BXGD016749 RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder) C1969038 disease C16;C18;C13;C12;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016750 Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology C1969039 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016751 LEOPARD SYNDROME 2 C1969056 disease C16;C17;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD016752 Noonan Syndrome 5 C1969057 disease C16;C17;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD016753 Hyperchloremic metabolic acidosis C1969073 P74.421 phenotype Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 8 BXGD016754 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 C1969081 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016755 Pontocerebellar Hypoplasia Type 6 C1969084 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome; Congenital Abnormality DOID:7 disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 5 BXGD016756 Tyrosine Kinase 2 Deficiency C1969086 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016757 Osteopetrosis, Autosomal Recessive 6 C1969093 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD016758 Osteopetrosis, Autosomal Recessive 4 C1969106 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016759 Corticosteroid-Binding Globulin, Elevated C1969107 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016760 Renal cortical cysts C1969144 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 14 BXGD016761 EEG with burst suppression C1969156 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 19 BXGD016762 Hypoplastic pubic rami C1969176 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD016763 Mesomelic leg shortening C1969178 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD016764 Depletion of components of the alternative complement pathway C1969220 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 1 BXGD016765 Decreased serum complement factor H C1969222 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 4 BXGD016766 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 11 C1969232 phenotype Finding T033 Finding 1 BXGD016767 Mitten deformity C1969236 phenotype Congenital Abnormality HP:0040064 Abnormality of limbs T019 Congenital Abnormality 7 BXGD016768 Tapered distal phalanges of finger C1969237 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD016769 Widely spaced toes C1969238 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD016770 Thoracic aorta calcification C1969292 phenotype Finding HP:0000924;HP:0001626 Abnormality of the skeletal system; Abnormality of the cardiovascular system T033 Finding 4 BXGD016771 PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED C1969342 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD016772 Pulmonary Hypertension, Primary, Fenfluramine-Associated C1969343 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD016773 Middle age onset C1969363 phenotype Finding T033 Finding 5 BXGD016774 Impaired renal uric acid clearance C1969371 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 1 BXGD016775 Tubulointerstitial fibrosis C1969372 phenotype Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 328 BXGD016776 Short 2nd metacarpal C1969397 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD016777 PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO C1969419 phenotype Finding DOID:7 disease of anatomical entity T033 Finding 2 BXGD016778 Trifunctional Protein Deficiency With Myopathy And Neuropathy C1969443 disease C16;C18;C05;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 23 BXGD016779 Rhizomelic arm shortening C1969532 phenotype Finding HP:0040064;HP:0000924;HP:0001507 Abnormality of limbs; Abnormality of the skeletal system; Growth abnormality T033 Finding 7 BXGD016780 Thyroid follicular hyperplasia C1969546 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 1 BXGD016781 Prolonged bleeding after dental extraction C1969572 phenotype Pathologic Function HP:0001871 Abnormality of blood and blood-forming tissues T046 Pathologic Function 8 BXGD016782 NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME C1969623 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD016783 Cardiomyopathy, Dilated, 1w C1969639 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016784 KALA-AZAR, SUSCEPTIBILITY TO, 2 C1969649 phenotype Finding DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T033 Finding 1 BXGD016785 Macular Degeneration, Age-Related, 9 C1969651 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016786 BRACHYDACTYLY, TYPE B2 (disorder) C1969652 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD016787 MUNGAN SYNDROME C1969653 disease C06;C04 Digestive System Diseases; Neoplasms Disease or Syndrome T047 Disease or Syndrome 15 BXGD016788 LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 C1969655 disease C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 2 BXGD016789 High iliac wings C1969680 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD016790 Repetitive compulsive behavior C1969697 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 6 BXGD016791 Impaired pursuit initiation and maintenance C1969722 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 2 BXGD016792 Premature loss of permanent teeth C1969738 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 3 BXGD016793 ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) C1969796 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD016794 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation C1969799 disease C23;C16;C18;C05;C20;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016795 Dystonia, Focal, Task-Specific C1969807 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016796 Isobutyryl-CoA dehydrogenase deficiency C1969809 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD016797 COPD, Severe Early-Onset C1969833 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD016798 Beta-cell dysfunction C1969875 phenotype Finding HP:0025031;HP:0000818 Abnormality of the digestive system; Abnormality of the endocrine system T033 Finding 6 BXGD016799 Limb joint contracture C1969879 phenotype Finding HP:0000924;HP:0003549;HP:0003011 Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T033 Finding 10 BXGD016800 Generalized hyperkeratosis C1969913 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 16 BXGD016801 Creutzfeldt-Jakob Disease, Heidenhain Variant C1969957 phenotype C23;C01;C11;C10;F03 Pathological Conditions, Signs and Symptoms; Infections; Eye Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD016802 SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE C1970009 disease C23;C16;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD016803 MALARIA, SUSCEPTIBILITY TO (finding) C1970028 disease Finding T033 Finding 5 BXGD016804 PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO C1970035 phenotype Finding DOID:630;DOID:7 genetic disease; disease of anatomical entity T033 Finding 1 BXGD016805 ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT C1970107 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD016806 AROMATASE EXCESS SYNDROME C1970109 disease C16;C18;C13;C17;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD016807 Tooth Agenesis, Selective, With Orofacial Cleft C1970117 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD016808 Hypodontia Oligodontia with Orofacial Cleft C1970118 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD016809 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED C1970119 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016810 Epilepsy, Childhood Absence, Susceptibility To, 4 C1970160 phenotype C10 Nervous System Diseases Finding DOID:7 disease of anatomical entity T033 Finding 1 BXGD016811 RETINITIS PIGMENTOSA 37 (disorder) C1970163 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016812 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4 C1970179 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD016813 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation C1970180 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD016814 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 11 C1970193 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD016815 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 10 C1970194 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD016816 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9 C1970195 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD016817 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 C1970197 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD016818 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 C1970198 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD016819 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 C1970199 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 4 BXGD016820 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 C1970200 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD016821 Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy C1970203 disease C23;C16;C13;C05;C10;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD016822 Inflammatory Bowel Disease 10 C1970207 disease C06 Digestive System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016823 Alzheimer Disease 12 C1970209 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD016824 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5 C1970224 disease Finding T033 Finding 1 BXGD016825 Phosphoserine Aminotransferase Deficiency C1970253 disease C23;C16;C05;C10;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD016826 Decreased serum complement factor I C1970257 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 7 BXGD016827 Recurrent meningococcal disease C1970263 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 5 BXGD016828 Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress C1970269 disease C23;C16;C05;C08;C10;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD016829 Hearing loss begins with loss of high frequencies C1970280 phenotype Finding T033 Finding 1 BXGD016830 Audiogram shows sloping configuration C1970281 phenotype Finding T033 Finding 1 BXGD016831 Deafness, profound, by 6th decade C1970282 phenotype Finding T033 Finding 1 BXGD016832 Progressive Familial Heart Block, Type Ib C1970298 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016833 Selective tooth agenesis C1970308 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 8 BXGD016834 PITT-HOPKINS SYNDROME C1970431 disease C23;C08;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 9 BXGD016835 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder) C1970440 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD016836 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7 C1970441 phenotype Finding T033 Finding 1 BXGD016837 Osteogenesis imperfecta, type VIII C1970458 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD016838 Externally rotated/abducted legs C1970461 phenotype Finding HP:0040064 Abnormality of limbs T033 Finding 2 BXGD016839 Type 1 collagen overmodification C1970463 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD016840 Vesicoureteral Reflux 2 C1970483 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD016841 Crumpled long bones C1970497 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 6 BXGD016842 Multiple Endocrine Neoplasia, Type IV C1970712 disease C16;C04;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 13 BXGD016843 Hypoplastic sacrum C1970816 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD016844 Fabry Disease, Cardiac Variant C1970820 disease C16;C18;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD016845 Phosphoribosylpyrophosphate Synthetase Superactivity C1970827 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 6 BXGD016846 Leukoencephalopathy With Metaphyseal Chondrodysplasia C1970840 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016847 MENTAL RETARDATION, X-LINKED 93 (disorder) C1970841 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD016848 Phosphoglycerate Kinase 1 Deficiency C1970848 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD016849 Atypical Mycobacteriosis, Familial, X-Linked 2 C1970859 disease C16;C01 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD016850 ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder) C1970879 disease C16;C01 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD016851 Abnormal middle ear reflexes C1970887 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 1 BXGD016852 MAJOR AFFECTIVE DISORDER 4 C1970943 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 160 BXGD016853 MAJOR AFFECTIVE DISORDER 6 C1970945 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 160 BXGD016854 Sodium deficiency (disorder) C1971019 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016855 Potassium depletion C1971021 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD016856 Scleritis and episcleritis (disorder) C1971635 phenotype C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD016857 Diarrhea due to drug C1996989 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD016858 Hypertensive left ventricular hypertrophy C1997092 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD016859 Low grade glioma C1997217 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 85 BXGD016860 Hypothyroidism in pregnancy C1997262 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016861 Chlamydia trachomatis infection of genital structure C1997322 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD016862 Osteomyelitis due to Staphylococcus aureus C1997728 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD016863 Segmental dystonia C1997740 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD016864 Citrin deficiency C1997910 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD016865 Photoreceptor degeneration C1998028 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 136 BXGD016866 Subclinical hyperthyroidism C1998045 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD016867 Malassezia folliculitis C1998061 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD016868 Inflammatory acne C1998083 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD016869 T wave alternans C1998313 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 1 BXGD016870 phonological developmental disorder C2004345 F80.0 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD016871 Vascular insufficiency of intestine C2004435 disease C06;C14 Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 68 BXGD016872 Bowel dysfunction C2004461 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD016873 Regurgitation C2004489 phenotype Sign or Symptom T184 Sign or Symptom 66 BXGD016874 Cicatrix C2004491 L90.5 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 4 BXGD016875 Leukemia, B-Cell C2004493 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 239 BXGD016876 aberrant right subclavian artery C2004632 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 2 BXGD016877 Liver Carcinosarcoma C2007076 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 7 BXGD016878 Glassy cell carcinoma of the cervix C2012072 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 1 BXGD016879 Oppositional Behavior C2013199 phenotype Sign or Symptom T184 Sign or Symptom 4 BXGD016880 orthopedic disorders C2014414 group Disease or Syndrome T047 Disease or Syndrome 2 BXGD016881 Stickler syndrome, type 1 C2020284 disease C23;C11;C17;C05;C10;C09 Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 28 BXGD016882 Group B Streptococcal Infection C2020625 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 55 BXGD016883 Polar cataract C2025392 disease C11 Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 9 BXGD016884 Diffuse large B-cell lymphoma of central nervous system C2026186 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 7 BXGD016885 Haemophilus influenzae Type b Infection C2028293 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD016886 Cardiac Angiosarcoma C2030354 disease Neoplastic Process T191 Neoplastic Process 2 BXGD016887 Palate fistula C2032780 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 10 BXGD016888 Pancreatic Vipoma C2033037 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD016889 Yellow papule C2033396 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD016890 Cervical Glandular Intraepithelial Neoplasia C2044987 D06 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD016891 Mixed hyperlipidemia (disorder) C2047520 E78.2 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD016892 (Idiopathic) normal pressure hydrocephalus C2047886 G91.2 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD016893 Indolent multiple myeloma C2049069 disease C04;C20;C15;C14 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD016894 Pectus excavatum C2051831 disease C05;C08 Musculoskeletal Diseases; Respiratory Tract Diseases Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 12 BXGD016895 Adrenal hyperplasia, bilateral C2062372 disease Congenital Abnormality T019 Congenital Abnormality 12 BXGD016896 Sindbis virus infection C2062416 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD016897 Influenza A C2062441 disease Disease or Syndrome T047 Disease or Syndrome 563 BXGD016898 Mesial temporal sclerosis C2062593 G93.81 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD016899 Progressive ophthalmoplegia C2062713 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 3 BXGD016900 Left Main Coronary Artery Stenosis C2062905 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD016901 chronic lyme disease C2063079 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD016902 Right ventricular cardiomyopathy C2063326 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 15 BXGD016903 Left atrial appendage thrombosis C2063386 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD016904 Retroperitoneal liposarcoma C2063389 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 10 BXGD016905 viral hepatitis E infection C2063407 B17.2 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 6 BXGD016906 Depressive Disorder, Treatment-Resistant C2063866 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 66 BXGD016907 Esophageal Adenosquamous Carcinoma C2063886 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD016908 Liver Epithelioid Hemangioendothelioma C2064402 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD016909 chronic gingivostomatitis C2074700 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD016910 Chronic postoperative pain C2074900 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 7 BXGD016911 Influenza A (H5N1) C2076596 J09.X disease Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 15 BXGD016912 Influenza due to Influenza A virus subtype H1N1 C2076600 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 44 BXGD016913 Influenza A (H3N2) C2076602 disease Disease or Syndrome T047 Disease or Syndrome 18 BXGD016914 Charcot-Marie-Tooth disease, Type 2A C2079538 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD016915 Charcot-Marie-Tooth disease, Type 2C C2079540 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016916 Rectus femoris muscle atrophy C2083352 disease Disease or Syndrome HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T047 Disease or Syndrome 1 BXGD016917 Adenosarcoma of the uterus C2103110 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 3 BXGD016918 Autoimmune Primary Adrenal Insufficiency C2103602 disease C20;C19 Immune System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 41 BXGD016919 continuous electrocardiogram - paroxysmal supraventricular tachycardia C2108093 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding T033 Finding 3 BXGD016920 continuous electrocardiogram sinus bradycardia (finding) C2108107 phenotype Finding T033 Finding 20 BXGD016921 Postaxial foot polydactyly C2112129 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 45 BXGD016922 Postmenopausal endometrium C2112532 disease Disease or Syndrome T047 Disease or Syndrome 15 BXGD016923 Preaxial foot polydactyly C2112942 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 10 BXGD016924 Idiopathic Precocious Puberty C2113596 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD016925 preterm contractions C2114320 I49.49 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD016926 Agonadism C2118097 disease Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 2 BXGD016927 Acute colitis C2118460 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T047 Disease or Syndrome 83 BXGD016928 Exophthalmos, bilateral C2126063 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD016929 Loose stool C2129214 phenotype C23;C06;C10 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 8 BXGD016930 Abnormal blistering of the skin C2132198 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 75 BXGD016931 Urothelial Carcinoma C2145472 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 449 BXGD016932 Bilateral vocal cord paralysis C2146481 disease C23;C08;C10;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000707;HP:0001608 Abnormality of the nervous system; Abnormality of the voice T047 Disease or Syndrome 4 BXGD016933 Recurrent streptococcus pneumoniae infections C2169794 phenotype Finding HP:0002715;HP:0002086 Abnormality of the immune system; Abnormality of the respiratory system T033 Finding 4 BXGD016934 Recurrent bronchopulmonary infections C2169795 phenotype Finding HP:0002715;HP:0002086 Abnormality of the immune system; Abnormality of the respiratory system T033 Finding 10 BXGD016935 recurrent muscle twitches (symptom) C2169806 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 26 BXGD016936 Retroperitoneal Leiomyosarcoma C2187547 disease Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 2 BXGD016937 Undifferentiated/Unclassified Sarcoma C2188153 disease Neoplastic Process T191 Neoplastic Process 5 BXGD016938 VABP C2189270 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD016939 Scrotal hypospadias C2197691 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 2 BXGD016940 2-methylbutyrylglycinuria C2198591 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD016941 medullary carcinoma with lymphoid stroma of breast C2211694 disease Neoplastic Process T191 Neoplastic Process 10 BXGD016942 Small cell carcinoma of ovary C2212006 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD016943 Non-Hodgkin's lymphoma of central nervous system C2213246 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD016944 Acute cerebral ischemia C2215101 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 47 BXGD016945 Acute postoperative pain C2215257 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 8 BXGD016946 Electrocardiogram atrioventricular block complete heart block C2215935 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding T033 Finding 4 BXGD016947 electrocardiogram - left anterior hemiblock C2215995 phenotype Finding T033 Finding 4 BXGD016948 electrocardiogram left posterior hemiblock (finding) C2216002 phenotype Finding T033 Finding 1 BXGD016949 Cherry red spot of the macula C2216370 phenotype Finding HP:0000152;HP:0000478;HP:0001626 Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system T033 Finding 9 BXGD016950 malignant neoplasm of breast stage I C2216695 disease Neoplastic Process T191 Neoplastic Process 6 BXGD016951 malignant neoplasm of breast staging C2216702 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 49 BXGD016952 Stage IIA Colon Cancer AJCC v7 C2217035 disease Neoplastic Process T191 Neoplastic Process 10 BXGD016953 Stage IIIC Colon Cancer AJCC v7 C2217039 disease Neoplastic Process T191 Neoplastic Process 2 BXGD016954 malignant neoplasm of large intestine stage IV C2217040 disease Neoplastic Process T191 Neoplastic Process 1 BXGD016955 Daytime somnolence C2219848 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD016956 Motor disturbances C2220255 phenotype Sign or Symptom T184 Sign or Symptom 16 BXGD016957 Ankle weakness C2228039 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 16 BXGD016958 Triceps weakness C2230441 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 18 BXGD016959 Brucellosis, Pulmonary C2231324 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD016960 Moderate global developmental delay C2237142 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 27 BXGD016961 cephalohematoma C2237512 phenotype Finding T033 Finding 7 BXGD016962 exudative macular degeneration C2237660 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 49 BXGD016963 Hemoglobin, CTCAE C2239101 phenotype Finding T033 Finding 7 BXGD016964 eyelids (symptom) C2239120 phenotype Sign or Symptom T184 Sign or Symptom 6 BXGD016965 Liver carcinoma C2239176 C22.0 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 5725 BXGD016966 von Willebrand's factor (lab test) C2239219 phenotype Laboratory Procedure T059 Laboratory Procedure 55 BXGD016967 Vascular Endothelial Growth Factor Measurement C2239222 phenotype Laboratory Procedure T059 Laboratory Procedure 12 BXGD016968 Endometrial stromal sarcoma, high grade C2239246 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 14 BXGD016969 Sinus of Valsalva aneurysm C2239253 disease Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 1 BXGD016970 Hodgkin lymphoma, nodular lymphocyte predominance C2239290 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD016971 DEAFNESS, AUTOSOMAL RECESSIVE 74 C2239351 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD016972 thyroid function C2242456 phenotype Physiologic Function T039 Physiologic Function 7 BXGD016973 Infection of bone C2242472 M86.9 disease C23;C01;C05 Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases Disease or Syndrome HP:0002715;HP:0000924 Abnormality of the immune system; Abnormality of the skeletal system T047 Disease or Syndrome 11 BXGD016974 Exacerbation of idiopathic pulmonary fibrosis C2242482 disease Disease or Syndrome T047 Disease or Syndrome 12 BXGD016975 Splenic varices C2242510 phenotype C06;C15 Digestive System Diseases; Hemic and Lymphatic Diseases Acquired Abnormality T020 Acquired Abnormality 1 BXGD016976 Non-erosive reflux disease C2242528 disease Disease or Syndrome T047 Disease or Syndrome 17 BXGD016977 Subcutaneous infection C2242539 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD016978 Phantosmia C2242552 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD016979 Compulsive sexual behaviour C2242574 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD016980 Oromandibular dystonia C2242577 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 13 BXGD016981 Lingual dystonia C2242579 phenotype Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 4 BXGD016982 Interstitial granulomatous dermatitis C2242585 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD016983 Coronaropathy C2242589 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD016984 Mucosal atrophy C2242595 phenotype Sign or Symptom T184 Sign or Symptom 10 BXGD016985 Bladder hyperplasia C2242601 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD016986 Tumour thrombosis C2242635 disease Neoplastic Process T191 Neoplastic Process 19 BXGD016987 Thyroid fibrosis C2242653 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD016988 HBV coinfection C2242656 disease Disease or Syndrome T047 Disease or Syndrome 11 BXGD016989 Metastatic ocular melanoma C2242657 disease Neoplastic Process T191 Neoplastic Process 2 BXGD016990 Calcineurin inhibitor induced pain syndrome C2242680 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD016991 Recurrent cerebral infarction C2242682 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD016992 Chronic enterocolitis C2242689 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD016993 Diarrhea rotavirus C2242691 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD016994 Cardio-Renal Syndrome C2242703 disease C13;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 21 BXGD016995 Chronic myeloid leukaemia transformation C2242704 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 11 BXGD016996 Hypertransaminasaemia C2242708 phenotype Finding T033 Finding 1 BXGD016997 Intra-Abdominal Hypertension C2242710 disease C05;C14 Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD016998 Arteritic anterior ischemic optic neuropathy C2242711 disease C11;C10;C14 Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD016999 Hyper LDL cholesterolaemia C2242712 disease Disease or Syndrome T047 Disease or Syndrome 20 BXGD017000 Cystic fibrosis related diabetes C2242728 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD017001 Plexiform leiomyoma C2242776 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 41 BXGD017002 Sickle cell-thalassemia disease C2242796 D57.40 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD017003 Ranula (disorder) C2242813 K11.6 disease C04;C07 Neoplasms; Stomatognathic Diseases Disease or Syndrome HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017004 Chronic secretory otitis media C2242816 H65.3 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD017005 Homocysteine measurement C2242817 phenotype Laboratory Procedure T059 Laboratory Procedure 23 BXGD017006 Myeloblastic leukemia C2242826 disease Neoplastic Process T191 Neoplastic Process 22 BXGD017007 Benign Mastocytoma C2242987 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 26 BXGD017008 Large head (disorder) C2243051 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 64 BXGD017009 Intestinal necrosis C2243080 K55.06 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD017010 basal cell adenocarcinoma of salivary gland C2243086 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 10 BXGD017011 paraoxonase activity C2257843 phenotype Molecular Function T044 Molecular Function 1 BXGD017012 Skeletal muscle hypertrophy C2265792 phenotype Organ or Tissue Function HP:0003011 Abnormality of the musculature T042 Organ or Tissue Function 21 BXGD017013 ritualistic behavior (symptom) C2266670 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD017014 Trichilemmal cyst C2266788 disease C04 Neoplasms Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 8 BXGD017015 Bulimia Nervosa C2267227 F50.2 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 71 BXGD017016 Chronic idiopathic neutropenia C2267231 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD017017 Neonatal Hypotonia C2267233 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 169 BXGD017018 Reproductive tract infection C2314882 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD017019 Familial Atypical Mole Melanoma Syndrome C2314896 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 30 BXGD017020 Infarction of spinal cord C2314994 disease C10;C14;C26 Nervous System Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 14 BXGD017021 Pediatric failure to thrive C2315100 disease C23;C18;F03 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome HP:0001507 Growth abnormality T047 Disease or Syndrome 166 BXGD017022 Idiopathic gynecomastia C2315209 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD017023 Bilateral sensory hearing loss C2315694 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017024 Oral allergy syndrome C2316159 phenotype C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD017025 Cryopyrin-Associated Periodic Syndromes C2316212 M04.2 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 39 BXGD017026 Chronic kidney disease stage 1 C2316401 N18.1 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 7 BXGD017027 Pseudobulbar affect C2316460 F48.2 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD017028 Chronic kidney disease stage 2 C2316786 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 15 BXGD017029 Chronic kidney disease stage 3 C2316787 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 25 BXGD017030 Chronic kidney disease stage 5 C2316810 N18.5 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 666 BXGD017031 Arachidonic acid measurement C2316832 phenotype Laboratory Procedure T059 Laboratory Procedure 4 BXGD017032 Suspected inflammatory arthritis C2317127 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017033 Acute rhinosinusitis C2317131 disease C01;C08;C09 Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017034 Chronic kidney disease stage 4 C2317473 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 11 BXGD017035 ISS Stage I Plasma Cell Myeloma C2346458 disease Neoplastic Process T191 Neoplastic Process 2 BXGD017036 Microscopic Polyarteritis C2347126 M31.7 disease C20;C10;C14 Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 77 BXGD017037 Myxoid leiomyoma C2347314 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD017038 Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 C2347507 disease Neoplastic Process T191 Neoplastic Process 4 BXGD017039 Childhood Atypical Teratoid/Rhabdoid Tumor C2347613 disease Neoplastic Process T191 Neoplastic Process 28 BXGD017040 Adult Classical Hodgkin Lymphoma C2347747 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 233 BXGD017041 Adult Erythroleukemia C2347748 disease Neoplastic Process T191 Neoplastic Process 236 BXGD017042 Adult Grade III Meningioma C2347749 disease Neoplastic Process T191 Neoplastic Process 3 BXGD017043 Adult Grade II Meningioma C2347750 disease Neoplastic Process T191 Neoplastic Process 3 BXGD017044 Adult Grade I Meningioma C2347751 disease Neoplastic Process T191 Neoplastic Process 6 BXGD017045 Adult Pure Erythroid Leukemia C2347753 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD017046 Childhood Grade III Meningioma C2347758 disease Neoplastic Process T191 Neoplastic Process 3 BXGD017047 Childhood Grade II Meningioma C2347759 disease Neoplastic Process T191 Neoplastic Process 3 BXGD017048 Childhood Grade I Meningioma C2347760 disease Neoplastic Process T191 Neoplastic Process 6 BXGD017049 Childhood Myelodysplastic Syndrome C2347761 disease C15 Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 335 BXGD017050 Childhood Teratoma C2347762 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 95 BXGD017051 Rosette-forming glioneuronal tumor of the fourth ventricle C2347979 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 2 BXGD017052 CD40 Ligand Deficiency C2348037 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD017053 Destructive Arthritis C2348101 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 23 BXGD017054 Short Qt Syndrome C2348199 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD017055 Endolymphatic sac tumor C2348239 disease C04;C05;C09 Neoplasms; Musculoskeletal Diseases; Otorhinolaryngologic Diseases Neoplastic Process HP:0002664;HP:0000598 Neoplasm; Abnormality of the ear T191 Neoplastic Process 2 BXGD017056 mixed adenocarcinoma of the stomach C2348737 disease Neoplastic Process T191 Neoplastic Process 1 BXGD017057 Triple-Negative Breast Cancer Finding C2348819 phenotype Finding T033 Finding 1 BXGD017058 Acute Anterior Wall Myocardial Infarction C2349195 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017059 Cluster headaches and other trigeminal autonomic cephalgias C2349419 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD017060 Acute post-traumatic headache C2349421 G44.31 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD017061 Familial migraine C2349453 G43.4 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD017062 Anal intraepithelial neoplasia I and II (AIN I and II) (histologically confirmed) C2349568 K62.82 disease Neoplastic Process T191 Neoplastic Process 1 BXGD017063 Fetal anemia C2349595 disease C16;C13;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD017064 Iatrogenic Jakob-Creutzfeldt disease C2349757 A81.09 disease C01;C10;F03 Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 3 BXGD017065 Oropharyngeal Carcinoma C2349952 disease C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 115 BXGD017066 Solitary Pulmonary Nodule C2350019 R91.1 disease C08 Respiratory Tract Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 25 BXGD017067 Clinically Isolated Syndrome, CNS Demyelinating C2350037 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD017068 Molar Incisor Hypomineralization C2350038 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD017069 Polymorphic Reticulosis C2350168 disease C08;C09 Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD017070 Unilateral Nasal Obstruction C2350170 disease C08;C09 Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017071 Bilateral Nasal Obstruction C2350171 disease C08;C09 Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017072 Antley-Bixler Syndrome Phenotype C2350233 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD017073 Clear-Cell Sugar Tumors C2350234 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD017074 Idiopathic Interstitial Pneumonias C2350236 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 64 BXGD017075 Osteoarthritis, Spine C2350242 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD017076 Periodontal Atrophy C2350270 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017077 Chronic Lung Injury C2350344 disease C08;C26 Respiratory Tract Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 33 BXGD017078 Pancreatitis, Graft C2350449 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017079 Taste Perception (mental process) C2350521 phenotype Mental Process T041 Mental Process 5 BXGD017080 Pulmonary Aspergillosis C2350529 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD017081 Bronchopulmonary Aspergillosis C2350530 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD017082 Eumycetoma C2350621 B47.0 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD017083 Beryllium Disease C2350873 disease C08;C24 Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD017084 Constrictive Bronchiolitis C2350875 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system T047 Disease or Syndrome 3 BXGD017085 Bronchiolitis, Exudative C2350876 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017086 Focal Emphysema C2350878 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD017087 Tropical Eosinophilic Pneumonia C2350879 disease C08;C15 Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017088 Bronchiolitis, Proliferative C2350988 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017089 Aggregated erythrocytes C2359904 phenotype Anatomical Abnormality T190 Anatomical Abnormality 3 BXGD017090 Subacute cutaneous lupus C2362320 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD017091 Pediatric Obesity C2362324 disease C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 191 BXGD017092 Microgyria C2362742 Q04.3 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality DOID:630;DOID:7;DOID:225;DOID:150;DOID:0080015 genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder T019 Congenital Abnormality 2 BXGD017093 clinical depression C2362914 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 14 BXGD017094 Vitamin D-resistant rickets C2363065 E83.31 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD017095 Benign Rolandic Epilepsy C2363129 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD017096 T-Cell Prolymphocytic Leukemia C2363142 C91.60 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 52 BXGD017097 Cervical auricle (disorder) C2363280 Q18.2 disease C16;C04;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Congenital Abnormality DOID:0080015 physical disorder T019 Congenital Abnormality 4 BXGD017098 Arthrosclerosis C2363725 phenotype Sign or Symptom T184 Sign or Symptom 4 BXGD017099 Oropharyngeal pain C2363731 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD017100 HIV-1 infection C2363741 disease Disease or Syndrome T047 Disease or Syndrome 695 BXGD017101 Neurological decompensation C2363747 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD017102 MDS transformation C2363750 disease Neoplastic Process T191 Neoplastic Process 4 BXGD017103 Acquired Protein S Deficiency C2363755 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD017104 Myopic astigmatism C2363771 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 4 BXGD017105 Neutrophilic asthma C2363774 disease Disease or Syndrome T047 Disease or Syndrome 40 BXGD017106 Esophageal intestinal metaplasia C2363785 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD017107 Short-term memory impairment C2363813 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD017108 Paucigranulocytic asthma C2363819 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD017109 Encapsulation reaction C2363845 disease Neoplastic Process T191 Neoplastic Process 1 BXGD017110 Traumatic occlusion C2363866 disease Disease or Syndrome T047 Disease or Syndrome 15 BXGD017111 Bacterascites C2363867 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD017112 Acute radiation toxicity C2363882 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017113 Glioneuronal tumor C2363902 disease Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 4 BXGD017114 Angiocentric glioma C2363903 disease Neoplastic Process T191 Neoplastic Process 3 BXGD017115 Cerebellar ischaemia C2363915 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD017116 Childhood depression C2363919 disease F03;F01 Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD017117 Pleuroperitoneal communication C2363925 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017118 Histamine intolerance C2363929 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017119 Venous reflux C2363955 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD017120 Histaminosis C2363972 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017121 Chronic thromboembolic pulmonary hypertension C2363973 I27.24 disease C08;C14 Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 76 BXGD017122 Systemic sclerosis [scleroderma] C2364016 M34 disease Disease or Syndrome T047 Disease or Syndrome 11 BXGD017123 Sense of smell impaired C2364082 phenotype C10 Nervous System Diseases Sign or Symptom HP:0000707;HP:0000152 Abnormality of the nervous system; Abnormality of head or neck T184 Sign or Symptom 60 BXGD017124 Ageusia C2364111 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 3 BXGD017125 Discomfort C2364135 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD017126 Prothrombin G20210A mutation C2584409 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD017127 Postsurgical lymphedema C2584421 disease C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017128 Hereditary protein S deficiency C2584611 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017129 Thrombophilia, hereditary C2584620 D68.5 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD017130 Congenital hypofibrinogenemia C2584774 D68.2 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD017131 Autoimmune thrombotic thrombocytopenic purpura C2584777 disease C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017132 Thrombotic thrombocytopenic purpura, acquired C2584778 disease C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD017133 Asymptomatic multiple myeloma C2585107 disease C04;C20;C15;C14 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD017134 Qualitative platelet disorder C2585231 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017135 Acquired thrombophilia C2585317 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD017136 Hereditary hyperhomocysteinemia C2585350 disease C16;C18;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD017137 Benign multiple sclerosis C2585570 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD017138 Recurrent abdominal pain C2585575 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 4 BXGD017139 Persistent atrial fibrillation C2585653 I48.1 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function T046 Pathologic Function 156 BXGD017140 Heterozygous prothrombin G20210A mutation C2585684 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD017141 Hyperreactio luteinalis C2585739 disease C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017142 Heterozygous protein C deficiency C2585960 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017143 Hereditary thrombocytopenic disorder C2586012 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017144 Hereditary antithrombin III deficiency C2586031 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD017145 Homozygous protein S deficiency C2586160 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017146 Surrogate mother (family issue) C2586331 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD017147 Fractional shortening C2599768 phenotype Finding T033 Finding 4 BXGD017148 Allergic rhinitis (disorder) C2607914 J30.9 disease C08;C20;C09 Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0002715;HP:0000152 Abnormality of the immune system; Abnormality of head or neck DOID:7 disease of anatomical entity T047 Disease or Syndrome 446 BXGD017149 Carney Complex, Type 1 C2607929 disease C16;C04;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD017150 Unilateral deafness C2607947 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000598 Abnormality of the ear T047 Disease or Syndrome 3 BXGD017151 Folliculitis decalvans C2608043 L66.2 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017152 Trilateral Retinoblastoma C2608045 disease C04;C11 Neoplasms; Eye Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD017153 Hereditary Renal Cell Carcinoma C2608055 disease C16;C04;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 8 BXGD017154 WARFARIN SENSITIVITY (disorder) C2608079 phenotype C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD017155 Cholestasis, benign recurrent intrahepatic 2 C2608083 disease C06 Digestive System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017156 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder) C2608084 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD017157 HANGOVER, SUSCEPTIBILITY TO (finding) C2608086 phenotype Finding T033 Finding 1 BXGD017158 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB C2608087 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017159 Cerebellar cognitive affective syndrome C2609040 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD017160 Post embolisation syndrome C2609042 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 1 BXGD017161 Sticky platelet syndrome C2609046 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD017162 Antisynthetase syndrome C2609059 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD017163 Olmsted syndrome C2609071 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD017164 Mirror syndrome C2609079 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD017165 Pancreatic neuroendocrine tumour metastatic C2609093 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD017166 Hypo HDL cholesterolaemia C2609107 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD017167 Autoimmune pancreatitis C2609129 disease C06;C20 Digestive System Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 49 BXGD017168 Kounis Syndrome C2609176 disease C20;C14 Immune System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD017169 Yellow fever vaccine-associated viscerotropic disease C2609184 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD017170 Adrenal incidentaloma C2609247 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 13 BXGD017171 Ureterovesical junction obstruction C2609249 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 2 BXGD017172 Macrovascular disease C2609253 disease Disease or Syndrome T047 Disease or Syndrome 23 BXGD017173 Symphysis Pubis Dysfunction C2609259 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 23 BXGD017174 Gastroesophageal varices C2609266 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD017175 Low phospholipid-associated cholelithiasis C2609268 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD017176 Fasting hyperglycaemia C2609269 phenotype Finding T033 Finding 1 BXGD017177 Reticular pseudodrusen C2609282 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD017178 Diabetic arteriosclerosis C2609289 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD017179 Retinal angiomatous proliferation C2609315 disease Disease or Syndrome T047 Disease or Syndrome 12 BXGD017180 Papulopustular Rash C2609319 phenotype C17 Skin and Connective Tissue Diseases Sign or Symptom T184 Sign or Symptom 2 BXGD017181 Eosinophilic peritonitis C2609324 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017182 Acute kidney injury C2609414 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Injury or Poisoning HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T037 Injury or Poisoning 185 BXGD017183 2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity C2610861 phenotype Molecular Function T044 Molecular Function 1 BXGD017184 Extramedullary Hematopoiesis (disorder) C2613439 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 52 BXGD017185 Aortic Aneurysm, Familial Thoracic 6 C2673186 disease C23;C17;C14 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD017186 Erythrocytosis, Familial, 4 C2673187 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017187 Brugada Syndrome 2 C2673193 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017188 Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps C2673195 disease C23;C05;C10;C14 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD017189 LIPOPROTEIN GLOMERULOPATHY C2673196 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD017190 BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder) C2673218 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD017191 ADENOMATOUS POLYPOSIS COLI WITH CONGENITAL CHOLESTEATOMA C2673229 disease Finding T033 Finding 1 BXGD017192 KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY C2673266 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017193 Hydrops fetalis (type II, congenital) C2673285 phenotype Finding T033 Finding 1 BXGD017194 Urinary excretion of sialylated oligosaccharides C2673302 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 1 BXGD017195 Paucity of anterior horn motor neurons C2673351 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD017196 Radioulnar dislocation C2673394 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD017197 Proximal fibular overgrowth C2673395 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD017198 Phalangeal dislocation C2673396 phenotype C05;C26 Musculoskeletal Diseases; Wounds and Injuries Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD017199 Medial deviation of the foot C2673401 phenotype C05 Musculoskeletal Diseases Finding HP:0040064 Abnormality of limbs T033 Finding 1 BXGD017200 Small midface C2673410 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 23 BXGD017201 METHEMOGLOBINEMIA TYPE IV C2673427 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017202 Abnormality of the periventricular white matter C2673431 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 45 BXGD017203 Renal calcium wasting C2673441 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 3 BXGD017204 Hypermagnesiuria C2673443 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 6 BXGD017205 Recurrent Staphylococcus aureus infections C2673462 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 11 BXGD017206 Hypophosphatasia, Perinatal Lethal C2673477 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD017207 PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO C2673517 phenotype Finding T033 Finding 1 BXGD017208 PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO C2673518 phenotype Finding T033 Finding 1 BXGD017209 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding) C2673520 phenotype Finding T033 Finding 1 BXGD017210 DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) C2673535 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD017211 Increased urinary glycerol C2673558 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 3 BXGD017212 Epidermolysis bullosa inversa dystrophica C2673609 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD017213 JEB-I C2673610 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD017214 Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant C2673611 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD017215 Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive C2673612 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD017216 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) C2673630 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017217 Combined Saposin Deficiency C2673635 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD017218 Hypomagnesemia 4, Renal C2673648 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD017219 Cuboid-shaped vertebral bodies C2673653 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD017220 Curly eyelashes C2673670 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 15 BXGD017221 Myopathy, Early-Onset, with Fatal Cardiomyopathy C2673677 disease C05;C10;C14 Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017222 Dystonia with Cerebellar Atrophy C2673697 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD017223 Brisk reflexes C2673700 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 31 BXGD017224 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) C2673759 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD017225 DEAFNESS, DIGENIC, GJB2/GJB6 (disorder) C2673760 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD017226 DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) C2673761 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD017227 Infantile nystagmus C2673809 phenotype Finding T033 Finding 2 BXGD017228 RENAL-HEPATIC-PANCREATIC DYSPLASIA C2673883 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:0080015 physical disorder T047 Disease or Syndrome 3 BXGD017229 Renal hepatic pancreatic dysplasia Dandy Walker cyst C2673885 disease C16;C06;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 4 BXGD017230 Ductal plate malformation C2673892 disease Congenital Abnormality T019 Congenital Abnormality 3 BXGD017231 Anemia, Hypochromic Microcytic, With Iron Overload C2673913 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD017232 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive C2673914 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017233 Amelogenesis Imperfecta, Hypomaturation Type, Iia1 C2673922 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017234 Foveal hypoplasia (finding) C2673946 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 25 BXGD017235 Absent skin pigmentation C2673954 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD017236 Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma C2674009 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017237 Lethal short-limbed short stature C2674171 disease Finding HP:0001507 Growth abnormality T033 Finding 1 BXGD017238 Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans C2674173 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:630 genetic disease T019 Congenital Abnormality 3 BXGD017239 Areflexia of upper limbs C2674177 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707;HP:0040064 Abnormality of the nervous system; Abnormality of limbs T033 Finding 2 BXGD017240 SPHEROCYTOSIS, TYPE 1 (disorder) C2674218 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 48 BXGD017241 SPHEROCYTOSIS, HEREDITARY, 2 C2674219 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 8 BXGD017242 NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder) C2674259 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017243 Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant C2674321 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017244 Protein C Deficiency, Acquired C2674322 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017245 Seizures, intractable C2674422 phenotype Finding T033 Finding 5 BXGD017246 Reduced bone mineral density C2674432 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 76 BXGD017247 Palmoplantar Hyperkeratosis And True Hermaphroditism C2674504 disease C16;C13;C17;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017248 Truncal titubation C2674512 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD017249 Aortic aneurysm, familial thoracic 3 C2674574 disease C16;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD017250 Feeding difficulties in infancy C2674608 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 305 BXGD017251 FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) C2674616 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 10 BXGD017252 GASTROINTESTINAL STROMAL TUMOR, FAMILIAL C2674636 disease Finding T033 Finding 1 BXGD017253 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5 (finding) C2674665 disease Finding T033 Finding 1 BXGD017254 Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant C2674695 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017255 RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER C2674723 disease C16;C04;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD017256 ASTROCYTOMA, LOW-GRADE, SOMATIC C2674727 disease Finding T033 Finding 1 BXGD017257 Abnormality of finger C2674737 phenotype C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 8 BXGD017258 Abnormality of toe C2674738 group C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 6 BXGD017259 Myokymia 1 C2674766 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017260 ALCOHOL SENSITIVITY, ACUTE C2674838 phenotype Finding T033 Finding 1 BXGD017261 Chromosome 3q29 Deletion Syndrome C2674949 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD017262 LUNG CANCER, SUSCEPTIBILITY TO C2674950 phenotype Finding T033 Finding 2 BXGD017263 Mullerian Aplasia and Hyperandrogenism C2675014 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD017264 Narrow palpebral fissure C2675021 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 34 BXGD017265 BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL (disorder) C2675055 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD017266 Refractory macrocytic anemia C2675059 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 1 BXGD017267 Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus C2675066 disease C18;C13;C12;C19;C15 Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD017268 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12 C2675071 phenotype Finding T033 Finding 2 BXGD017269 Enlarged peripheral nerve C2675074 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD017270 Li-Fraumeni-Like Syndrome C2675080 disease C16;C04;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 10 BXGD017271 BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO, SOMATIC C2675105 phenotype Finding T033 Finding 1 BXGD017272 Abnormal eyelash morphology C2675111 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 39 BXGD017273 CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO (finding) C2675113 phenotype Finding DOID:630;DOID:7 genetic disease; disease of anatomical entity T033 Finding 1 BXGD017274 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6 (finding) C2675128 disease Finding T033 Finding 1 BXGD017275 Arginine:Glycine Amidinotransferase Deficiency C2675179 disease C23;C16;C18;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD017276 Kahrizi Syndrome C2675185 disease C23;C16;C11;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD017277 LEBER CONGENITAL AMAUROSIS 13 C2675186 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD017278 Spherocytosis, Type 5 C2675192 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD017279 EPISODIC ATAXIA, TYPE 6 (disorder) C2675211 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017280 Spherocytosis, Type 4 C2675212 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017281 Endocrine-Cerebroosteodysplasia C2675227 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD017282 Deafness, Autosomal Recessive 1b C2675235 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD017283 BARDET-BIEDL SYNDROME 1, MODIFIER OF C2675305 phenotype Finding T033 Finding 3 BXGD017284 Duplication 15q11-q13 Syndrome C2675336 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD017285 Capillary Malformation Without Arteriovenous Malformation C2675370 disease C16;C17;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017286 POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC C2675383 disease Finding T033 Finding 1 BXGD017287 DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO C2675432 phenotype Finding T033 Finding 2 BXGD017288 Desmoid Tumor Caused By Somatic Mutation C2675440 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD017289 Adenylate Kinase Deficiency, Hemolytic Anemia Due To C2675459 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017290 Convulsions, Benign Familial Infantile, 4 C2675462 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD017291 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3 (finding) C2675470 disease Finding T033 Finding 1 BXGD017292 COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 C2675481 disease Finding T033 Finding 166 BXGD017293 Retinitis Pigmentosa 46 C2675496 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017294 INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE C2675508 disease C06 Digestive System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD017295 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12 C2675513 phenotype Finding T033 Finding 1 BXGD017296 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 C2675517 phenotype Finding T033 Finding 1 BXGD017297 Adiponectin Deficiency C2675518 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD017298 Hypoadiponectinemia C2675519 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD017299 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 C2675520 disease Finding T033 Finding 2 BXGD017300 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO C2675525 disease Finding T033 Finding 1 BXGD017301 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 C2675556 phenotype Finding T033 Finding 1 BXGD017302 Acholic stool C2675627 phenotype C06 Digestive System Diseases Finding HP:0025031 Abnormality of the digestive system T033 Finding 6 BXGD017303 NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder) C2675646 disease C16;C18;C10;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD017304 Brain Small Vessel Disease With Axenfeld-Rieger Anomaly C2675650 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017305 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 C2675659 phenotype Finding T033 Finding 1 BXGD017306 PARATHYROID ADENOMA, SOMATIC C2675664 disease Finding T033 Finding 2 BXGD017307 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder) C2675746 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 8 BXGD017308 Coumarin Sensitivity C2675747 phenotype C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017309 DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) C2675750 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017310 Holoprosencephaly 10 C2675857 phenotype C23;C16;C11;C05;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD017311 Amelogenesis Imperfecta, Hypomaturation Type, Iia2 C2675858 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017312 Diamond-Blackfan Anemia 4 C2675860 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017313 DIABETES MELLITUS, INSULIN-DEPENDENT, 22 (disorder) C2675864 disease C18;C20;C19 Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 1 BXGD017314 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome C2675904 disease C23;C16;C04;C18;C13;C11;C12;C10;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017315 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14 C2675914 phenotype Finding T033 Finding 1 BXGD017316 Anisopoikilocytosis C2675920 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 6 BXGD017317 SCHIZOPHRENIA, SUSCEPTIBILITY TO C2675945 phenotype Finding T033 Finding 2 BXGD017318 Open operculum C2675973 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD017319 Pancreatic squamous cell carcinoma C2675993 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T191 Neoplastic Process 3 BXGD017320 DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO C2676021 phenotype Finding T033 Finding 1 BXGD017321 Optic nerve dysplasia C2676026 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 7 BXGD017322 Hepatoblastoma Caused By Somatic Mutation C2676033 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 106 BXGD017323 Diamond-Blackfan Anemia 1 C2676137 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD017324 PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder) C2676191 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 16 BXGD017325 Increased serum insulin-like growth factor 1 C2676198 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 2 BXGD017326 SUBLINGUAL NITROGLYCERIN, SUSCEPTIBILITY TO POOR RESPONSE TO C2676227 phenotype Finding T033 Finding 1 BXGD017327 Skeletal Defects, Genital Hypoplasia, And Mental Retardation C2676231 disease C23;C16;C05;C12;C10;C19;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD017328 Complement Component 6 Deficiency C2676232 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD017329 Leukodystrophy, Hypomyelinating, 6 C2676244 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017330 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) C2676271 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017331 Alopecia, Androgenetic, 3 C2676272 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 39 BXGD017332 Bone Fragility with Contractures, Arterial Rupture, and Deafness C2676285 disease C23;C17;C05 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017333 Proximal radio-ulnar synostosis C2676443 phenotype C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 5 BXGD017334 COWDEN-LIKE SYNDROME (disorder) C2676500 disease C16;C04;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD017335 Post-angioplasty coronary artery restenosis C2676505 phenotype C14 Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 1 BXGD017336 Inflammatory Bowel Disease 21 C2676507 disease C06 Digestive System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017337 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 C2676676 disease Finding T033 Finding 3 BXGD017338 BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 C2676677 phenotype Finding T033 Finding 1 BXGD017339 OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 C2676678 phenotype Finding T033 Finding 1 BXGD017340 Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator C2676721 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017341 JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder) C2676723 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017342 Chromosome 2q32-Q33 Deletion Syndrome C2676739 disease C23;C16;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD017343 THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE C2676759 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017344 CD59 Deficiency C2676767 disease C23;C13;C12;C15 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD017345 Birk-Barel Mental Retardation Dysmorphism Syndrome C2676770 disease C23;C16;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD017346 Progeroid Syndrome, Congenital, Petty Type C2676780 phenotype C23;C16;C18 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD017347 Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 C2676782 disease C16;C18;C13;C05;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017348 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1(finding) C2676832 disease Finding T033 Finding 1 BXGD017349 LUMBAR DISC HERNIATION, SUSCEPTIBILITY TO C2676840 phenotype Finding T033 Finding 1 BXGD017350 Dilatated internal auditory canal C2676973 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 7 BXGD017351 Hypoplasia of the cochlea C2676974 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 7 BXGD017352 Skin-Hair-Eye Pigmentation, Variation In, 11 C2677086 phenotype C23;C16;C17 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Finding T033 Finding 1 BXGD017353 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 C2677087 phenotype Finding T033 Finding 1 BXGD017354 Inflammatory Bowel Disease 17 C2677091 disease C06 Digestive System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017355 MYD88 Deficiency C2677092 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD017356 Inflammatory Bowel Disease 16 C2677093 disease C06 Digestive System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017357 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) C2677099 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017358 Inflammatory Bowel Disease 13 C2677101 disease C06 Digestive System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017359 Chromosome 10q23 Deletion Syndrome C2677102 phenotype C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD017360 Inflammatory Bowel Disease 12 C2677105 disease C06 Digestive System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017361 Atrial Fibrillation, Familial, 7 C2677106 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017362 Leukodystrophy, Hypomyelinating, 4 C2677109 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD017363 Leukodystrophy, hypomyelinating C2677112 phenotype Finding T033 Finding 1 BXGD017364 COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 C2677123 phenotype Finding T033 Finding 165 BXGD017365 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9 C2677162 phenotype Finding T033 Finding 1 BXGD017366 Congenital microcephaly C2677180 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality HP:0000707;HP:0000152;HP:0000924 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 51 BXGD017367 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder) C2677190 phenotype Finding T033 Finding 1 BXGD017368 COLORECTAL CANCER, SUSCEPTIBILITY TO, 4 C2677290 phenotype Finding T033 Finding 2 BXGD017369 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 15 C2677291 phenotype Finding T033 Finding 2 BXGD017370 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder) C2677299 disease C23;C16;C04;C18;C11;C05;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD017371 Cerebral hypomyelination C2677328 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 29 BXGD017372 Epidermolysis Bullosa Simplex With Pyloric Atresia C2677349 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017373 Alveolar capillary dysplasia C2677362 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality T019 Congenital Abnormality 7 BXGD017374 Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant C2677481 disease C16;C17;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017375 Aplasia of the sweat glands C2677485 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 2 BXGD017376 AUTISM, SUSCEPTIBILITY TO, 15 C2677504 disease Finding T033 Finding 9 BXGD017377 AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) C2677565 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017378 DYSTONIA 16 (disorder) C2677567 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD017379 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 C2677589 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD017380 Congenital Disorder Of Glycosylation, Type In C2677590 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 9 BXGD017381 Thrombocytopenia 4 C2677608 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017382 Decreased activity of mitochondrial complex I C2677650 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 41 BXGD017383 Rett Syndrome, Zappella Variant C2677682 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 1 BXGD017384 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7 C2677770 phenotype Finding T033 Finding 1 BXGD017385 Age-Related Macular Degeneration type 11 C2677774 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017386 Riddle Syndrome C2677792 disease C23;C16;C05;C20;C10;F03 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD017387 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6 C2677793 phenotype Finding T033 Finding 1 BXGD017388 Stress-induced polymorphic ventricular tachycardia C2677794 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD017389 Episodic Ataxia, Type 7 C2677843 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD017390 Surfactant Metabolism Dysfunction, Pulmonary, 4 C2677877 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD017391 Protoporphyria, Erythropoietic, X-Linked Dominant C2677889 disease C16;C06;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD017392 Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia C2677903 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD017393 MENTAL RETARDATION, X-LINKED 95 C2678034 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD017394 Alopecia, Androgenetic, 2 C2678038 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 39 BXGD017395 TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS C2678045 disease C16;C13;C05;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 10 BXGD017396 MENTAL RETARDATION, X-LINKED 94 (disorder) C2678051 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD017397 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT C2678061 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 30 BXGD017398 Myofibrillar Myopathy C2678065 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0003011 Abnormality of the musculature DOID:7 disease of anatomical entity T047 Disease or Syndrome 61 BXGD017399 Hypospadias 1, X-Linked C2678098 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:0080015 physical disorder T047 Disease or Syndrome 1 BXGD017400 Mental Retardation, X-Linked, Syndromic, Christianson Type C2678194 disease C23;C16;C11;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 6 BXGD017401 Mood instability C2678248 phenotype Finding T033 Finding 2 BXGD017402 Hoarse cry C2678303 phenotype C23;C08;C10;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Finding HP:0001608 Abnormality of the voice T033 Finding 7 BXGD017403 C2-C3 subluxation C2678323 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD017404 SPHEROCYTOSIS, TYPE 3 (disorder) C2678338 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017405 Renal Tubular Dysgenesis With Choanal Atresia And Athelia C2678367 disease C16;C08;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD017406 Aplasia of the ulna C2678397 phenotype Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 4 BXGD017407 Absent humerus C2678399 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD017408 UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO C2678403 phenotype Finding T033 Finding 1 BXGD017409 Hyperphenylalaninemia, Non-Pku Mild C2678416 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD017410 CRANIOOSTEOARTHROPATHY C2678439 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 13 BXGD017411 Amyotrophic Lateral Sclerosis 9 C2678468 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD017412 Lethal Arthrogryposis With Anterior Horn Cell Disease C2678471 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017413 CARDIOMYOPATHY, DILATED, 2A (disorder) C2678474 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017414 Cardiomyopathy, Dilated, 1z C2678475 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017415 Cardiomyopathy, Dilated, 1y C2678476 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017416 Brugada Syndrome 4 C2678477 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017417 Brugada Syndrome 3 C2678478 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017418 Chromosome 22q11.2 Deletion Syndrome, Distal C2678480 disease C23;C16;C05;C19;C15;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD017419 Long Qt Syndrome 10 C2678484 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017420 LONG QT SYNDROME 9 (disorder) C2678485 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD017421 AXENFELD-RIEGER SYNDROME, TYPE 3 C2678503 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD017422 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 8 C2678504 phenotype Finding T033 Finding 1 BXGD017423 HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 1 C2681535 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD017424 RETINITIS PIGMENTOSA 2 (disorder) C2681923 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD017425 APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding) C2684859 disease Finding DOID:7 disease of anatomical entity T033 Finding 3 BXGD017426 Gastrointestinal irritation C2697368 phenotype C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD017427 Giant Platelet Count (procedure) C2697501 phenotype Laboratory Procedure T059 Laboratory Procedure 10 BXGD017428 Glucagon-like Peptide-1 measurement C2697503 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD017429 Heinz-Ehrlich Body Measurement C2697573 phenotype Laboratory Procedure T059 Laboratory Procedure 6 BXGD017430 Hyperdiploid B Acute Lymphoblastic Leukemia C2697636 disease Neoplastic Process T191 Neoplastic Process 32 BXGD017431 Hypodiploid B Acute Lymphoblastic Leukemia C2697638 disease Neoplastic Process T191 Neoplastic Process 4 BXGD017432 Interleukin 10 Measurement C2697758 phenotype Laboratory Procedure T059 Laboratory Procedure 14 BXGD017433 Interleukin 12 Measurement C2697760 phenotype Laboratory Procedure T059 Laboratory Procedure 5 BXGD017434 Interleukin 16 Measurement C2697764 phenotype Laboratory Procedure T059 Laboratory Procedure 9 BXGD017435 Interleukin 17 Measurement C2697765 phenotype Laboratory Procedure T059 Laboratory Procedure 7 BXGD017436 Interleukin 18 Measurement C2697766 phenotype Laboratory Procedure T059 Laboratory Procedure 16 BXGD017437 Interleukin 19 Measurement C2697767 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD017438 Interleukin 2 Measurement C2697779 phenotype Laboratory Procedure T059 Laboratory Procedure 5 BXGD017439 Interleukin 5 Measurement C2697786 phenotype Laboratory Procedure T059 Laboratory Procedure 2 BXGD017440 Loeys-Dietz Syndrome C2697932 disease C16;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 20 BXGD017441 Loeys-Dietz Syndrome Type 1 C2697933 disease C16;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017442 Macrophage Colony Stimulating Factor Measurement C2697999 phenotype Laboratory Procedure T059 Laboratory Procedure 3 BXGD017443 Marfan Syndrome Type II C2698016 disease C16;C17;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017444 Matrix Metalloproteinase 8 Measurement C2698027 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD017445 Merkel Cell Polyomavirus Infection C2698045 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 11 BXGD017446 Anisocyte Measurement C2698117 phenotype Laboratory Procedure T059 Laboratory Procedure 15 BXGD017447 Metastatic Ductal Breast Carcinoma C2698203 disease Neoplastic Process T191 Neoplastic Process 1 BXGD017448 Metastatic Lobular Breast Carcinoma C2698204 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD017449 Monoclonal B-Cell Lymphocytosis C2698259 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 49 BXGD017450 High Grade B-Cell Lymphoma, Not Otherwise Specified C2698294 disease Neoplastic Process T191 Neoplastic Process 5 BXGD017451 B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged C2698309 disease Neoplastic Process T191 Neoplastic Process 1 BXGD017452 B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified C2698310 disease Neoplastic Process T191 Neoplastic Process 1 BXGD017453 Myeloperoxidase Measurement C2698399 phenotype Laboratory Procedure T059 Laboratory Procedure 15 BXGD017454 Bite Cell Count (procedure) C2698518 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD017455 Pappenheimer Body Count (lab procedure) C2698740 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD017456 Pediatric follicular lymphoma C2698750 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 10 BXGD017457 Pleomorphic Variant Mantle Cell Lymphoma C2698836 disease Neoplastic Process T191 Neoplastic Process 3 BXGD017458 Complement C3 Measurement C2699419 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD017459 Splenic diffuse red pulp small B-cell lymphoma C2699508 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD017460 Split-Hand/Foot Malformation C2699510 disease C23 Pathological Conditions, Signs and Symptoms Congenital Abnormality T019 Congenital Abnormality 50 BXGD017461 Cytokine Measurement C2699541 phenotype Laboratory Procedure T059 Laboratory Procedure 82 BXGD017462 Dedifferentiated Solitary Fibrous Tumor C2699572 disease Neoplastic Process T191 Neoplastic Process 1 BXGD017463 Follicular T-Cell Lymphoma C2700204 disease Neoplastic Process T191 Neoplastic Process 2 BXGD017464 Waardenburg Syndrome Type 2 C2700265 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 9 BXGD017465 Adiponectin Measurement C2700366 phenotype Laboratory Procedure T059 Laboratory Procedure 25 BXGD017466 WAARDENBURG SYNDROME, TYPE IIE C2700405 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD017467 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (finding) C2700406 phenotype Finding T033 Finding 5 BXGD017468 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE C2700425 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD017469 MAJOR AFFECTIVE DISORDER 7 C2700438 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 127 BXGD017470 MAJOR AFFECTIVE DISORDER 8 C2700439 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 126 BXGD017471 MAJOR AFFECTIVE DISORDER 9 C2700440 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 126 BXGD017472 Omenn Syndrome C2700553 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 35 BXGD017473 Cystic dermoid choristoma C2700593 phenotype C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD017474 Irritation - emotion C2700617 phenotype F01 Behavior and Behavior Mechanisms Mental Process HP:0000707 Abnormality of the nervous system T041 Mental Process 147 BXGD017475 malignant neoplasm of bone marrow C2703042 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD017476 Hypothalamic-pituitary-adrenal axis dysfunction C2711029 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017477 Hepatitis B and hepatitis C C2711110 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 13 BXGD017478 Steatohepatitis C2711227 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 1143 BXGD017479 Osteonecrosis of Jaw C2711248 disease C23;C05;C07 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD017480 Ischemic priapism C2711256 disease C12 Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017481 Infection by Trypanosoma brucei brucei C2711472 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD017482 Stuttering priapism C2711515 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017483 Stimulant dependence C2711618 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD017484 Combined immunodeficiency disease C2711630 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD017485 Paraneoplastic myositis C2711656 disease C04;C05;C10 Neoplasms; Musculoskeletal Diseases; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD017486 Actual Aspiration C2712334 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 18 BXGD017487 Severe hypoxic ischemic encephalopathy C2712360 P91.63 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD017488 Benign endometrial hyperplasia C2712711 N85.01 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 10 BXGD017489 Tumor lysis syndrome (spontaneous) C2712743 E88.3 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017490 Gout attack C2712871 M10 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD017491 obsolete Combined hyperlipidemia C2712907 E78.2 disease Disease or Syndrome T047 Disease or Syndrome 17 BXGD017492 Enteritis due to Norovirus C2712971 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 16 BXGD017493 Arylsulfatase A Deficiency C2713319 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD017494 alpha-L-Iduronidase Deficiency C2713321 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD017495 7-Dehydrocholesterol Reductase Deficiency C2713347 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017496 Hematopoetic Myelodysplasia C2713368 phenotype C15 Hemic and Lymphatic Diseases Pathologic Function DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T046 Pathologic Function 38 BXGD017497 Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency C2713392 disease C16;C18;C13;C12;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD017498 Haim-Monk Syndrome C2713394 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017499 Polyposis, Adenomatous Intestinal C2713442 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 16 BXGD017500 Familial Intestinal Polyposis C2713443 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome T047 Disease or Syndrome 16 BXGD017501 Hyperpotassemia and Hypertension, Familial C2713447 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD017502 Saccular Aneurysm C2713497 disease C14 Cardiovascular Diseases Pathologic Function HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system T046 Pathologic Function 5 BXGD017503 Total Hexosaminidase Deficiency C2713499 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017504 Deficiency of Platelet Glycoprotein 1b C2713537 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD017505 Androgen Receptor Deficiency C2713546 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017506 Slow-Flow Phenomenon C2713615 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 3 BXGD017507 Platelet alpha-Granule Deficiency C2717750 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD017508 Susac Syndrome C2717757 disease C23;C11;C10;C09;C14 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017509 Degenerative Intervertebral Discs C2717759 disease C05 Musculoskeletal Diseases Anatomical Abnormality T190 Anatomical Abnormality 23 BXGD017510 Steroid Sulfatase Deficiency Disease C2717836 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 181 BXGD017511 Peritoneal Sclerosis C2717859 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding T033 Finding 1 BXGD017512 Encapsulating Peritoneal Sclerosis C2717860 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD017513 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis C2717865 disease C20;C14 Immune System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 86 BXGD017514 Vestibulodynia C2717866 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 5 BXGD017515 Propionicaciduria C2717876 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD017516 Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant C2717884 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD017517 Hereditary Angioedema Types I and II C2717905 disease C17;C20;C14 Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017518 Hereditary Angioedema Type I C2717906 disease C17;C20;C14 Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD017519 Thrombotic Microangiopathies C2717961 M31.1 group C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 62 BXGD017520 Poroma C2717981 disease C04 Neoplasms Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm T191 Neoplastic Process 9 BXGD017521 Protein Misfolding Disorders C2718001 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 38 BXGD017522 TDP-43 Proteinopathies C2718017 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 44 BXGD017523 Alcoholic Steatohepatitis C2718067 disease C06;C25 Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 30 BXGD017524 beta-Galactosidase Deficiency C2718068 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 6 BXGD017525 Fetal Mummification C2718076 phenotype C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function T046 Pathologic Function 6 BXGD017526 Deficiency of Uroporphyrinogen III Synthase C2718078 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD017527 Vitamin K Deficiency Bleeding C2718087 disease C16;C18;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017528 Acrospiroma C2718092 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD017529 Sulfoiduronate Sulfatase Deficiency C2718304 disease C16;C18;C17;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017530 Placental Steroid Sulfatase Deficiency C2720163 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 17 BXGD017531 ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY C2720289 disease C16;C18;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD017532 Macroencephaly C2720434 Q04.5 disease Congenital Abnormality T019 Congenital Abnormality 22 BXGD017533 Fibrosis of pleura C2720436 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD017534 Osmotic demyelination syndrome C2721559 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD017535 Infectious pneumonitis C2721563 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD017536 Meniscal degeneration C2721566 disease C17;C05 Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD017537 Ischemic nephropathy C2721575 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017538 Sudden arrhythmic death syndrome C2721586 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD017539 Verbal hallucinations C2721589 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD017540 Henoch-Schonlein purpura nephritis C2721603 disease C13;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 29 BXGD017541 Bladder dysplasia C2721606 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017542 Aneurysm enlargement C2721646 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD017543 Alphaviral infection C2721652 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD017544 Ultrafiltration failure C2721670 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD017545 Disseminated BCG C2721713 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD017546 Burkholderia cenocepacia infection C2721730 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017547 Burkholderia multivorans infection C2721731 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017548 Disseminated mycobacterium avium complex infection C2721732 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD017549 Methylenetetrahydrofolate reductase polymorphism C2721734 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD017550 Ventilation perfusion mismatch C2721740 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017551 Auditory neuropathy spectrum disorder C2732267 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 28 BXGD017552 Secondary osteoarthritis C2732281 M19.93 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD017553 Edema of dorsum of hand C2732374 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 9 BXGD017554 Postexertional fatigue C2732413 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 5 BXGD017555 Ductal Carcinoma In Situ with Microinvasion C2732473 disease Neoplastic Process T191 Neoplastic Process 23 BXGD017556 Sessile Serrated Adenoma/Polyp C2732618 disease Neoplastic Process T191 Neoplastic Process 48 BXGD017557 Autoimmune inflammation of skeletal muscle C2732697 disease C05;C20;C10 Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD017558 Neoplasm of skeletal system C2732838 disease Neoplastic Process HP:0002664;HP:0000924 Neoplasm; Abnormality of the skeletal system T191 Neoplastic Process 17 BXGD017559 Necrotizing soft tissue infection C2732890 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 6 BXGD017560 Acquired long QT syndrome C2732979 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD017561 Alpha ketoadipic aciduria C2733049 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017562 Cerebral Small Vessel Diseases C2733158 group C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 62 BXGD017563 Full thickness hole of macula lutea C2733564 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 7 BXGD017564 Pulmonary Mycobacterium avium complex infection C2733595 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD017565 Bone Fibrosarcoma C2733623 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD017566 Lentigo maligna melanoma C2739810 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm T191 Neoplastic Process 7 BXGD017567 Stress ulcer C2741638 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD017568 Promyelocytic leukemia C2745900 disease Neoplastic Process T191 Neoplastic Process 255 BXGD017569 Hyalinosis, Systemic C2745948 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD017570 Spondyloepiphyseal dysplasia, congenita C2745959 Q77.7 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 15 BXGD017571 Kashin-Beck Disease C2745963 M12.10 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 77 BXGD017572 OROFACIODIGITAL SYNDROME VI C2745997 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 11 BXGD017573 Combined D-2- and L-2-hydroxyglutaric aciduria C2746066 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 6 BXGD017574 Congenital idiopathic intestinal pseudoobstruction C2746068 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017575 Familial ectopia lentis C2746069 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD017576 Bile acid malabsorption C2747802 disease C06;C18 Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD017577 Complicated malaria C2747816 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 166 BXGD017578 Distended bowel C2747824 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017579 Peripheral lymphadenopathy C2747860 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD017580 Hysteromyoma C2747862 disease Neoplastic Process T191 Neoplastic Process 2 BXGD017581 Infection induced asthma C2747883 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017582 Destructive thyroiditis C2747905 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD017583 Hypoinsulinaemia (disorder) C2748055 disease Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 36 BXGD017584 Hypopnea syndrome C2748060 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD017585 Vitreomacular adhesion C2748203 H43.82 phenotype Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 6 BXGD017586 Executive dysfunction C2748208 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 33 BXGD017587 Descending thoracic aortic dissection C2748355 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017588 H5N1 influenza C2748361 disease Disease or Syndrome T047 Disease or Syndrome 31 BXGD017589 Metaphyseal Anadysplasia 1 C2748495 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017590 CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS C2748502 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD017591 Corneal Dystrophy, Subepithelial Mucinous C2748503 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD017592 INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY C2748507 M04.8 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD017593 Lumbar scoliosis C2748518 disease Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 10 BXGD017594 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder) C2748527 disease C23;C16;C11;C17;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD017595 Leukocyte Adhesion Deficiency, Type III C2748536 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD017596 CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) C2748542 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 13 BXGD017597 Immune dysfunction with T-cell inactivation due to calcium entry defect 2 C2748557 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD017598 Immune dysfunction with T-cell inactivation due to calcium entry defect 1 C2748568 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017599 Isolated Growth Hormone Deficiency, Type IB C2748571 disease C16;C05;C10;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD017600 SeSAME syndrome C2748572 disease C23;C10;F03;C09;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 6 BXGD017601 Renal sodium wasting C2748576 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 1 BXGD017602 LEAD POISONING, SUSCEPTIBILITY TO C2748608 phenotype Finding DOID:0014667;DOID:630 disease of metabolism; genetic disease T033 Finding 1 BXGD017603 Progressive extrapyramidal movement disorder C2748610 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 9 BXGD017604 Large face C2748652 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 11 BXGD017605 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT C2748801 disease C23;C16;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD017606 Hypoplastic pituitary gland C2748860 disease Congenital Abnormality T019 Congenital Abnormality 3 BXGD017607 CARDIOMYOPATHY, INFANTILE HYPERTROPHIC C2748884 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD017608 Ovotesticular Disorders of Sex Development C2748895 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality T019 Congenital Abnormality 7 BXGD017609 Rett Syndrome, Atypical C2748910 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 11 BXGD017610 Otopalatodigital Spectrum Disorder C2748918 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017611 Glycogen Storage Disease, Type IXA2 C2748941 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD017612 Chromosome Xq28 Duplication Syndrome C2749007 phenotype C23;C16;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD017613 Thrombophilia, X-Linked, Due To Factor Ix Defect C2749016 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017614 Mental Retardation, X-Linked, Znf711-Related C2749020 disease C23;C16;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD017615 Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness C2749137 disease C23;C16;C01;C11;C08;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Eye Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017616 Vater Association With Macrocephaly And Ventriculomegaly C2749240 disease C23;C16;C06;C05;C08;C10;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 2 BXGD017617 Gm2-Gangliosidosis, Variant B1 C2749283 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD017618 Refsum Disease, Adult, 1 C2749345 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD017619 Prominence of the premaxilla C2749369 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 5 BXGD017620 Aplasia/Hypoplasia of the radius C2749463 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 45 BXGD017621 NEUROBLASTOMA, SUSCEPTIBILITY TO C2749484 phenotype Finding T033 Finding 11 BXGD017622 Collapsing glomerulopathy C2749515 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD017623 Methemoglobinemia, Type I C2749559 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD017624 Methemoglobinemia, Type Ii C2749560 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017625 Nadh-Cytochrome B5 Reductase Deficiency, Type I C2749561 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017626 Nadh-Cytochrome B5 Reductase Deficiency, Type Ii C2749562 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017627 Dumbbell-shaped long bone C2749582 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 4 BXGD017628 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 C2749604 disease Finding T033 Finding 4 BXGD017629 Motor axonal neuropathy C2749625 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 27 BXGD017630 AICARDI-GOUTIERES SYNDROME 5 (disorder) C2749659 disease C16;C20;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD017631 Cortical gyral simplification C2749675 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 39 BXGD017632 CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder) C2749685 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD017633 Abnormal isoelectric focusing of serum transferrin C2749688 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 15 BXGD017634 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 C2749757 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD017635 MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) C2749861 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD017636 MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) C2749864 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD017637 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 C2749872 phenotype Finding T033 Finding 1 BXGD017638 Musician's Dystonia C2749929 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017639 THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 C2749982 disease Finding T033 Finding 1 BXGD017640 Intermittent generalized erythematous papular rash C2749995 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD017641 Emery-Dreifuss Muscular Dystrophy 3 C2750035 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017642 Hypokalemic Periodic Paralysis, Type 2 C2750061 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD017643 Leber Congenital Amaurosis 14 C2750063 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017644 Retinal Dystrophy, Early-Onset Severe, Lrat-Related C2750064 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017645 RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED C2750065 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017646 Plasminogen Activator Inhibitor-1 Deficiency C2750067 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017647 Roifman-Chitayat Syndrome C2750068 disease C23;C16;C11;C05;C20;C10;F03 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 3 BXGD017648 Rhabdoid Tumor Predisposition Syndrome 2 C2750074 disease C04 Neoplasms Disease or Syndrome T047 Disease or Syndrome 1 BXGD017649 Hypophosphatemic Rickets, Autosomal Recessive, 2 C2750078 disease C16;C18;C13;C05;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD017650 Bile Acid Malabsorption, Primary C2750087 disease C23;C06;C18 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017651 HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO C2750088 disease Finding T033 Finding 3 BXGD017652 Charcot-Marie-Tooth Disease, Axonal, Type 2n C2750090 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD017653 Cardiomyopathy, Dilated, 1FF C2750091 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017654 Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 C2750234 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD017655 Progeria Syndrome, Childhood-Onset C2750285 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD017656 Enamel defects C2750331 phenotype Finding T033 Finding 2 BXGD017657 Omodysplasia 2 C2750355 disease C23;C16;C05 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017658 Fibrosis of Extraocular Muscles, Congenital, 3C C2750404 phenotype C23;C16;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD017659 CAP MYOPATHY, TPM3-RELATED (disorder) C2750414 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017660 FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 C2750440 disease Finding DOID:0014667;DOID:630 disease of metabolism; genetic disease T033 Finding 63 BXGD017661 LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1 C2750441 phenotype Finding DOID:0014667;DOID:630 disease of metabolism; genetic disease T033 Finding 63 BXGD017662 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3 C2750451 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017663 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 C2750459 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017664 Tsc2 Angiomyolipomas, Renal, Modifier Of C2750460 disease C16;C04;C13;C12;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD017665 Cardiomyopathy, Familial Hypertrophic, 13 C2750472 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017666 THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 C2750473 disease Finding T033 Finding 2 BXGD017667 Factor XIII, B Subunit, Deficiency Of C2750481 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Finding HP:0001871 Abnormality of blood and blood-forming tissues DOID:630;DOID:7 genetic disease; disease of anatomical entity T033 Finding 1 BXGD017668 Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 C2750509 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD017669 Factor Xiii, A Subunit, Deficiency Of C2750514 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Finding HP:0001871 Abnormality of blood and blood-forming tissues DOID:630;DOID:7 genetic disease; disease of anatomical entity T033 Finding 1 BXGD017670 Nemaline Myopathy 3, With Intranuclear Rods C2750536 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017671 Myopathy, Actin, Congenital, With Cores C2750537 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017672 Median cleft lip and palate C2750604 disease Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 15 BXGD017673 Cone-Rod Dystrophy 13 C2750720 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017674 Noonan Syndrome 6 C2750732 disease C16;C17;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 3 BXGD017675 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL C2750737 disease C23;C06;C18 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 32 BXGD017676 Chromosome 17p13.3 Duplication Syndrome C2750748 disease C23;C16;C10;F03 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD017677 MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) C2750785 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017678 Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency C2750786 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD017679 Weill-Marchesani-Like Syndrome C2750787 disease C16;C11;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD017680 Polymicrogyria With Optic Nerve Hypoplasia C2750798 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017681 Dystransthyretinemic Euthyroidal Hyperthyroxinemia C2750824 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017682 GLIOMA SUSCEPTIBILITY 1 C2750850 phenotype Finding T033 Finding 6 BXGD017683 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 C2750887 disease Finding DOID:7 disease of anatomical entity T033 Finding 1 BXGD017684 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6 C2750888 phenotype Finding DOID:7 disease of anatomical entity T033 Finding 1 BXGD017685 Neuronal loss in basal ganglia C2750913 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 8 BXGD017686 Basal ganglia gliosis C2750915 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0000707 Abnormality of the nervous system T033 Finding 10 BXGD017687 Iodide organification defect C2750949 phenotype Finding T033 Finding 2 BXGD017688 PARKINSON DISEASE 16 (disorder) C2751012 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017689 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 C2751052 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD017690 Parkinsonism-Dystonia, Infantile C2751067 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD017691 Brugada Syndrome 8 C2751083 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017692 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder) C2751105 disease C23;C16;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD017693 Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related C2751259 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017694 Macrothrombocytopenia C2751260 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 34 BXGD017695 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 C2751290 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD017696 Hypotrichosis And Recurrent Skin Vesicles C2751292 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 2 BXGD017697 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 C2751293 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017698 GLAUCOMA 1, OPEN ANGLE, O C2751294 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017699 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 C2751295 disease Finding T033 Finding 1 BXGD017700 INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC (disorder) C2751296 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017701 Polycystic kidney disease, type 2 C2751306 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 15 BXGD017702 CONE DYSTROPHY 4 (disorder) C2751308 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017703 Achromatopsia 5 C2751309 disease C23;C16;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017704 Hyperuricemic Nephropathy, Familial Juvenile 2 C2751310 disease C23;C13;C12;C15 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD017705 BARTTER SYNDROME, TYPE 4B C2751312 disease C23;C13;C12;C10;C19;C09 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017706 CLAPO Syndrome C2751313 disease C16;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 1 BXGD017707 Atrial Septal Defect 6 C2751315 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 1 BXGD017708 Nijmegen Breakage Syndrome-Like Disorder C2751318 disease C23;C16;C18;C05;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD017709 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 C2751319 disease C23;C18;C11;C05;C10 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017710 Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay C2751320 disease C23;C18;C11;C05;C10;F03;C09 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017711 Metaphyseal Anadysplasia 2 C2751322 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017712 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3 C2751324 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD017713 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy C2751325 disease C16;C13;C12;C10;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017714 Bifid thoracic vertebrae C2751478 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD017715 Hypoplastic sacral vertebrae C2751479 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD017716 Hypoplastic coccygeal vertebrae C2751480 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD017717 Mild radial hypoplasia C2751481 phenotype Finding T033 Finding 1 BXGD017718 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED C2751492 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 74 BXGD017719 Cerebral Amyloid Angiopathy, Gsn-Related C2751493 disease C16;C18;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD017720 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT C2751494 disease C16;C18;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD017721 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL C2751506 disease Finding T033 Finding 1 BXGD017722 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency C2751532 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD017723 Prostaglandin-Endoperoxide Synthase 1 Deficiency, Platelet C2751535 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017724 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED C2751536 disease C16;C18;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD017725 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 C2751544 disease Finding T033 Finding 3 BXGD017726 Mitochondrial respiratory chain defects C2751582 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 21 BXGD017727 Neurodegeneration Due To Cerebral Folate Transport Deficiency C2751584 phenotype C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 8 BXGD017728 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10 C2751603 disease Finding DOID:7 disease of anatomical entity T033 Finding 1 BXGD017729 Pituitary Hormone Deficiency, Combined, 1 C2751608 disease C23;C16;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD017730 GLIOMA SUSCEPTIBILITY 2 C2751642 disease Finding T033 Finding 1 BXGD017731 Glycogen Storage Disease IXC C2751643 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD017732 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 C2751666 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD017733 NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 C2751681 disease Finding T033 Finding 1 BXGD017734 Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 C2751686 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017735 ALCOHOL DEPENDENCE, PROTECTION AGAINST C2751719 phenotype Finding DOID:150 disease of mental health T033 Finding 3 BXGD017736 Febrile Convulsions, Familial, 3a C2751756 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD017737 Retinitis Pigmentosa, Juvenile, Aipl1-Related C2751763 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017738 CONE-ROD DYSTROPHY, AIPL1-RELATED (disorder) C2751764 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017739 Generalized Epilepsy With Febrile Seizures Plus, 7 C2751778 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD017740 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2 C2751803 disease Finding T033 Finding 1 BXGD017741 EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT C2751805 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD017742 46, XY Disorders of Sex Development C2751824 group C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 29 BXGD017743 PREMATURE OVARIAN FAILURE 7 (disorder) C2751825 disease C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017744 Multiple Synostoses Syndrome 3 C2751826 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD017745 Ventricular Fibrillation, Paroxysmal Familial, 2 C2751829 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017746 PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE C2751842 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD017747 Leukoencephalopathy, Cystic, Without Megalencephaly C2751843 disease C23;C04;C10 Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017748 Hypomyelination, Global Cerebral C2751855 disease C23;C16;C18;C10;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD017749 Ventricular Fibrillation, Paroxysmal Familial, 1 C2751898 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 42 BXGD017750 Cerebral Palsy, Spastic Quadriplegic, 1 C2751938 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD017751 Cutis Laxa, Autosomal Recessive, Type IIB C2751987 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD017752 Growth Retardation, Developmental Delay, Coarse Facies, And Early Death C2752001 disease C23;C16;C05;C19;F03 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Mental Disorders Congenital Abnormality T019 Congenital Abnormality 1 BXGD017753 Spastic Paraplegia-50, Autosomal Recessive C2752008 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD017754 Glycogen Storage Disease XIV C2752015 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD017755 Glycogen Storage Disease XIII C2752027 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017756 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 C2752036 disease Finding T033 Finding 1 BXGD017757 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 C2752037 disease Finding T033 Finding 1 BXGD017758 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 C2752038 disease Finding T033 Finding 2 BXGD017759 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 C2752039 disease Finding T033 Finding 1 BXGD017760 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 C2752040 disease Finding T033 Finding 1 BXGD017761 Three M Syndrome 2 C2752041 disease C23;C16;C05;C10;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD017762 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi C2752042 disease C16;C04;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 1 BXGD017763 Cerebral Palsy, Spastic Quadriplegic, 2 C2752061 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017764 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8 C2752062 disease Finding DOID:7 disease of anatomical entity T033 Finding 1 BXGD017765 Cardiomyopathy, Dilated, 1BB C2752072 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD017766 ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY C2752074 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD017767 ALPHA-2-PLASMIN INHIBITOR DEFICIENCY C2752081 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017768 Neuropathy, Hereditary Sensory And Autonomic, Type IIA C2752089 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD017769 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C C2752147 disease C16;C04;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality DOID:630 genetic disease T047;T019 Disease or Syndrome; Congenital Abnormality 69 BXGD017770 Acute Myeloid Leukemia with Myelodysplasia-Related Changes C2825139 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 23 BXGD017771 Myeloid leukemia associated with Down Syndrome C2825149 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD017772 Treatment related leukaemia C2825306 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 30 BXGD017773 S-Beta Thalassemia C2825560 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD017774 Indeterminate dendritic cell tumor C2825741 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 7 BXGD017775 Disseminated Juvenile Xanthogranuloma C2825742 disease C17;C15 Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD017776 Factor VII measurement C2825856 phenotype Laboratory Procedure T059 Laboratory Procedure 16 BXGD017777 Factor VIII measurement C2825857 phenotype Laboratory Procedure T059 Laboratory Procedure 15 BXGD017778 Antithrombin Antigen Measurement C2825864 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD017779 Interferon Alpha Measurement C2825875 phenotype Laboratory Procedure T059 Laboratory Procedure 3 BXGD017780 Interferon Gamma Measurement C2825877 phenotype Laboratory Procedure T059 Laboratory Procedure 5 BXGD017781 Granulocyte Colony Stimulating Factor Measurement C2825895 phenotype Laboratory Procedure T059 Laboratory Procedure 4 BXGD017782 Stem Cell Factor Measurement C2825910 phenotype Laboratory Procedure T059 Laboratory Procedure 4 BXGD017783 Mixed phenotype acute leukemia C2826025 disease Neoplastic Process T191 Neoplastic Process 37 BXGD017784 Mixed phenotype acute leukemia T/myeloid C2826055 disease Neoplastic Process T191 Neoplastic Process 2 BXGD017785 Acute Myeloid Leukemia with Gene Mutations C2826176 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD017786 Acute myeloid leukemia with mutated NPM1 C2826177 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD017787 Acute myeloid leukemia with mutated CEBPA C2826178 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD017788 Refractory Neutropenia C2826320 disease C15 Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD017789 Refractory Thrombocytopenia C2826321 disease C15 Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 22 BXGD017790 Refractory Cytopenia of Childhood C2826323 disease Neoplastic Process T191 Neoplastic Process 264 BXGD017791 Refractory anemia with ring sideroblasts associated with marked thrombocytosis C2826330 disease C15 Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD017792 Unintentional Material Aspiration C2827071 phenotype Finding T033 Finding 13 BXGD017793 Myeloid/Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 C2827356 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD017794 Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement C2827362 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 22 BXGD017795 Infectious Otitis Media C2827407 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 146 BXGD017796 Liver Disease Associated with Cystic Fibrosis C2827436 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD017797 Childhood Diabetes Mellitus C2827448 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017798 Coronary Microvascular Disease C2827469 disease Disease or Syndrome T047 Disease or Syndrome 45 BXGD017799 HFE-Associated Hereditary Hemochromatosis C2827503 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD017800 Stage IA Breast Cancer AJCC v7 C2827980 disease Neoplastic Process T191 Neoplastic Process 2 BXGD017801 X-Linked Inherited Disorder C2828000 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 3 BXGD017802 HPV positive oropharyngeal squamous cell carcinoma C2828150 disease Neoplastic Process T191 Neoplastic Process 25 BXGD017803 SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE C2828721 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017804 Somnolence C2830004 R40.0 phenotype C23 Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 87 BXGD017805 Chemical Gastritis C2830012 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017806 Malignant neuroendocrine tumor C2845975 C7A disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD017807 Anaplastic diffuse large B-cell lymphoma C2853903 C83.3 disease Neoplastic Process T191 Neoplastic Process 2 BXGD017808 Lymphoblastic B-cell lymphoma C2853919 C83.5 disease Neoplastic Process T191 Neoplastic Process 4 BXGD017809 Lymphoblastic T-cell lymphoma C2853920 C83.5 disease Neoplastic Process T191 Neoplastic Process 3 BXGD017810 Non-follicular lymphoma C2853945 C83 disease Neoplastic Process T191 Neoplastic Process 1 BXGD017811 Acute lymphoblastic leukemia, in relapse C2854088 C91.02 disease Neoplastic Process T191 Neoplastic Process 2 BXGD017812 Acute myeloblastic leukemia with t(8;21) C2854122 C92.0 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 4 BXGD017813 Chronic myeloid leukemia, BCR/ABL-positive C2861580 C92.1 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 7 BXGD017814 AML M5b C2861614 C93.0 disease Neoplastic Process T191 Neoplastic Process 6 BXGD017815 Neoplasm of uncertain behavior of lymphoid, hematopoietic and related tissue, unspecified C2873719 D47.9 disease Neoplastic Process DOID:630;DOID:7;DOID:14566 genetic disease; disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD017816 Severe alpha thalassemia C2873754 D56.0 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD017817 Triple gene defect alpha thalassemia C2873755 D56.0 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD017818 Severe beta thalassemia C2873756 D56.1 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 9 BXGD017819 Deficiency of factor V [labile] C2873785 D68.2 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD017820 Deficiency of factor VII [stable] C2873786 D68.2 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD017821 Deficiency of factor X [Stuart-Prower] C2873787 D68.2 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017822 Deficiency of factor XII [Hageman] C2873788 D68.2 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD017823 Polycythemia due to erythropoietin C2873823 D75.1 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017824 Polycythemia due to stress C2873824 D75.1 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017825 Type 2 diabetes mellitus with periodontal disease C2874119 E11.630 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017826 Isolated deficiency of pituitary hormone C2874188 E23.0 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 8 BXGD017827 Necrosis of pituitary gland (postpartum) C2874189 E23.0 phenotype Pathologic Function DOID:630;DOID:7 genetic disease; disease of anatomical entity T046 Pathologic Function 8 BXGD017828 Pituitary short stature C2874190 E23.0 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 8 BXGD017829 Constitutional delay of puberty C2874202 E30.0 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD017830 Long chain/very long chain acyl CoA dehydrogenase deficiency C2874239 E71.310 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017831 GM2-GANGLIOSIDOSIS, ADULT C2874270 E75.09 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD017832 Mucolipidosis II [I-cell disease] C2874285 E77.0 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017833 Alcohol dependence with withdrawal, unspecified C2874392 F10.239 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD017834 Acute disseminated encephalitis and encephalomyelitis (ADEM) C2875014 G04.0 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD017835 Familial torsion dystonia C2875058 G24.1 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD017836 Peroneal muscular atrophy (axonal type) (hypertrophic type) C2875300 G60.0 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 21 BXGD017837 Dominantly inherited sensory neuropathy C2875301 G60.8 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD017838 Myotubular (centronuclear) myopathy C2875316 G71.220 disease Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 10 BXGD017839 Complex regional pain syndrome I, unspecified C2875367 G90.50 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017840 Arcus senilis, bilateral C2880381 H18.413 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017841 Age-related cortical cataract C2880562 H25.01 disease Acquired Abnormality HP:0000478 Abnormality of the eye T020 Acquired Abnormality 9 BXGD017842 Acute pulmonary embolism C2882221 I26.99 disease C08;C14 Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 42 BXGD017843 Nonrheumatic aortic (valve) stenosis C2882238 I35.0 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD017844 Goldblatt's kidney C2882691 I70.1 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD017845 Sepsis due to Streptococcus pneumoniae C2887084 A40.3 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD017846 Pseudomonas aeroginosa C2887095 A41.52 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD017847 Chronic sialoadenitis C2887627 K11.23 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017848 Barrett's esophagus without dysplasia C2887643 K22.70 disease C06;C04 Digestive System Diseases; Neoplasms Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD017849 Left sided colitis C2887821 K51.50 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD017850 Post traumatic osteoarthritis C2894027 M19.92 disease Disease or Syndrome T047 Disease or Syndrome 22 BXGD017851 Wegener's granulomatosis with renal involvement C2895166 M31.31 disease C08;C20;C14 Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017852 Autoimmune disease (systemic) NOS C2895206 M30-M36 disease Disease or Syndrome T047 Disease or Syndrome 37 BXGD017853 Juvenile and adolescent idiopathic scoliosis C2895223 M41.1 disease C05 Musculoskeletal Diseases Anatomical Abnormality T190 Anatomical Abnormality 4 BXGD017854 Other Creutzfeldt-Jakob disease C2900450 A81.09 disease C01;C10;F03 Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 37 BXGD017855 Nephrotic syndrome with focal and segmental hyalinosis C2902887 N04.1 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD017856 Nephrotic syndrome with focal and segmental sclerosis C2902888 N04.1 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD017857 Nephrotic syndrome with focal glomerulonephritis C2902889 N04.1 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD017858 Page kidney C2902961 N26.2 disease C13;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017859 Neurogenic bladder dysfunction C2902981 N31.9 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD017860 Isomerism of atrial appendages with asplenia or polysplenia C2910124 Q20.6 disease Congenital Abnormality DOID:630;DOID:0080015 genetic disease; physical disorder T019 Congenital Abnormality 3 BXGD017861 Patent or persistent ostium secundum defect (type II) C2910126 Q21.1 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD017862 Patent or persistent sinus venosus defect C2910127 Q21.1 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD017863 Nonruptured congenital cerebral aneurysm C2910157 Q28.3 disease Disease or Syndrome; Congenital Abnormality DOID:7 disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 2 BXGD017864 Congenital malformation of cerebral vessels NOS C2910158 Q28.3 disease Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 2 BXGD017865 Split foot, bilateral C2910315 Q72.73 disease Congenital Abnormality T019 Congenital Abnormality 2 BXGD017866 Asphyxiating thoracic dysplasia [Jeune] C2910340 Q77.2 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD017867 Short Stature, CTCAE C2919142 phenotype Finding T033 Finding 1010 BXGD017868 Autosomal dominant focal segmental glomerulosclerosis C2919166 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD017869 Sporadic olivopontocerebellar atrophy C2919194 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD017870 Pleomorphic lobular carcinoma in situ C2919327 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD017871 Edema of dorsum of foot C2919341 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0001939;HP:0040064 Abnormality of metabolism/homeostasis; Abnormality of limbs T046 Pathologic Function 5 BXGD017872 Macroalbuminuric diabetic nephropathy C2919365 disease C13;C12;C19 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD017873 Low density lipoprotein receptor mutation C2919414 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD017874 Apocrine intraductal carcinoma C2919426 disease Neoplastic Process T191 Neoplastic Process 1 BXGD017875 Familial immunoglobulin A nephropathy C2919502 disease C13;C12;C20 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD017876 Left sided ulcerative colitis C2919576 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017877 Idiopathic rapidly progressive glomerulonephritis C2919706 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD017878 Testicular dysgenesis syndrome C2919755 disease Disease or Syndrome T047 Disease or Syndrome 19 BXGD017879 Deficiency of succinate-CoA ligase C2919758 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017880 Glycogen storage disease type Ia C2919796 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 10 BXGD017881 Chronic ulcerative colitis C2919828 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 40 BXGD017882 Cavernous Hemangioma of Brain C2919945 disease C16;C04;C10;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Anatomical Abnormality DOID:7 disease of anatomical entity T190 Anatomical Abnormality 127 BXGD017883 Thoracic aortic ectasia C2921069 I77.810 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD017884 Post traumatic seizures C2921125 R56.1 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD017885 Visuospatial deficit C2921138 R41.842 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD017886 Clinically isolated syndrome C2921627 disease Disease or Syndrome T047 Disease or Syndrome 54 BXGD017887 Bilateral Wilms Tumor C2930471 disease C16;C04;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 31 BXGD017888 Pulmonary Fibrosis - from Asbestos Exposure C2930617 disease C08;C24 Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD017889 Intersex Conditions C2930618 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality T019 Congenital Abnormality 9 BXGD017890 Sex Differentiation Disorders C2930619 group C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 103 BXGD017891 Human Babesiosis C2930674 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017892 Familial acanthosis nigricans C2930792 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017893 Achondroplastic dwarfism C2930793 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017894 Hepatic ductular hypoplasia C2930797 disease C16;C06;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017895 Sudden unexpected nocturnal death syndrome C2930805 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017896 Familial vascular leukoencephalopathy C2930808 disease C23;C16;C10;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017897 Neutropenia and hyperlymphocytosis with large granular lymphocytes C2930809 disease C16;C11;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017898 Autoimmune limbic encephalitis C2930824 disease C04;C01;C20;C10 Neoplasms; Infections; Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD017899 Acute malaria C2930826 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 7 BXGD017900 Irritable heart C2930833 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD017901 Optic Disc Edema C2930835 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD017902 Bilateral pheochromocytoma and islet cell adenoma of the pancreas C2930839 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 10 BXGD017903 Stenotrophomonas maltophilia bacteremia C2930845 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD017904 Von willebrand factor, deficiency C2930849 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017905 Premature ovarian failure, familial C2930861 disease C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD017906 Primary angiitis of the central nervous system C2930862 disease C20;C10;C14 Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017907 Primary cortisol resistance C2930863 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017908 Ramer Ladda syndrome C2930865 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD017909 Rasmussen subacute encephalitis C2930868 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD017910 Cataract, congenital, with microcornea or slight microphthalmia C2930878 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome; Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 4 BXGD017911 Cerebellar degeneration, subacute C2930879 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017912 Congenital thrombotic disease, due to Protein C deficiency C2930896 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017913 Benign essential blepharospasm C2930898 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD017914 Bidirectional tachycardia C2930902 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017915 Reginato Schiapachasse syndrome C2930922 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017916 N-Acetylneuraminic acid storage disease C2930923 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017917 Interferon gamma, receptor 1, deficiency C2930924 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD017918 Kallmann syndrome, type 3, recessive C2930927 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD017919 Abdominal obesity metabolic syndrome C2930930 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD017920 Gastro-enteropancreatic neuroendocrine tumor C2930967 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 41 BXGD017921 Acromesomelic dysplasia Hunter-Thompson type C2930970 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 5 BXGD017922 Acroosteolysis dominant type C2930971 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017923 Acute erythroleukemia C2930974 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD017924 Acute erythroleukemia - M6a subtype C2930975 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD017925 Acute myeloid leukemia FAB-M6 C2930976 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD017926 Acute erythroleukemia - M6b subtype C2930977 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD017927 Malignant hyperthermia susceptibility type 1 C2930980 disease C23 Pathological Conditions, Signs and Symptoms Finding T033 Finding 1 BXGD017928 Malignant hyperthermia susceptibility type 5 C2930984 disease C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 1 BXGD017929 Maple syrup urine disease, type 1A C2930989 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017930 Maple syrup urine disease, type 1B C2930990 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD017931 Dyschromatosis universalis hereditaria C2930995 disease C23;C16;C17 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD017932 Congenital disorder of glycosylation type 1J C2931004 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD017933 Congenital disorder of glycosylation type 1X C2931007 disease C16;C18;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD017934 Congenital disorder of glycosylation type 2A C2931008 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD017935 Congenital disorder of glycosylation type 2D C2931009 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD017936 Cystinosis, benign, nonnephropathic C2931013 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD017937 Dandy Walker variant C2931015 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD017938 Split hand foot deformity 1 C2931019 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 71 BXGD017939 Amyloidosis, Cerebral, with Spongiform Encephalopathy C2931022 disease C01;C10;F03 Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD017940 Neutropenia, severe chronic C2931027 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD017941 Pseudoangiomatous stromal hyperplasia C2931031 disease C23;C17;C14 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD017942 Pulmonary alveolar proteinosis, congenital C2931035 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD017943 Pancreatic cancer, adult C2931037 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017944 Pancreatic carcinoma, familial C2931038 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 43 BXGD017945 Pancreatic islet cell tumors C2931039 disease C04 Neoplasms Disease or Syndrome T047 Disease or Syndrome 4 BXGD017946 Hawkinsinuria C2931042 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD017947 HEM dysplasia C2931048 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD017948 Marfan Syndrome type 2 C2931058 disease C16;C17;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017949 Desmoplastic cerebral astrocytoma of infancy C2931068 disease C04;C10 Neoplasms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017950 Dianzani autoimmune lymphoproliferative syndrome C2931071 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD017951 Epidermolysa bullosa simplex and limb girdle muscular dystrophy C2931072 disease C16;C17;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 4 BXGD017952 Collagenopathy, type 2 alpha 1 C2931073 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD017953 Cone rod dystrophy amelogenesis imperfecta C2931074 disease C16;C11;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD017954 Familial apoceruloplasmin deficiency C2931082 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017955 Maternally Inherited Leigh Syndrome C2931092 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD017956 Osteogenesis imperfecta, type 5 C2931093 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD017957 Hydrolethalus syndrome C2931104 disease C16;C05;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD017958 Myasthenic syndrome, congenital, postsynaptic slow-channel C2931107 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017959 Myostatin-related muscle hypertrophy C2931112 disease C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 2 BXGD017960 Fetal megacystis C2931117 disease C16;C13 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 5 BXGD017961 Megalocytic interstitial nephritis C2931118 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017962 Keratosis palmoplantaris striata 3 C2931123 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017963 Crigler Najjar syndrome, type 2 C2931132 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD017964 Pediatric Crohn's disease C2931133 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 32 BXGD017965 Nondystrophic myotonia C2931139 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017966 Synostotic Anterior Plagiocephaly C2931150 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 16 BXGD017967 Juvenile pauciarticular chronic arthritis C2931171 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 26 BXGD017968 Pediatric ulcerative colitis C2931173 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD017969 Polycystic kidney disease, type 1 C2931174 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD017970 Neonatal herpes C2931185 disease C13;C01;C17 Female Urogenital Diseases and Pregnancy Complications; Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017971 Nephropathic cystinosis C2931187 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD017972 Neural crest tumor C2931189 disease C04;C19 Neoplasms; Endocrine System Diseases Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 18 BXGD017973 Prinzmetal's variant angina C2931193 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD017974 Craniofacial dysostosis type 1 C2931196 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD017975 Urachal adenocarcinoma C2931201 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017976 Urachal cancer C2931202 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 19 BXGD017977 Usher syndrome, type 1A C2931205 disease C23;C16;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 14 BXGD017978 Usher syndrome, type 1B C2931206 disease C23;C16;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD017979 Usher syndrome, type 1C C2931207 disease C23;C16;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017980 Usher syndrome, type 1D C2931208 disease C23;C16;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD017981 Usher syndrome, type 1F C2931210 disease C23;C16;C11;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017982 Tetra-amelia autosomal recessive C2931216 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 2 BXGD017983 Tetraamelia multiple malformations C2931218 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017984 6 alpha mercaptopurine sensitivity C2931223 disease C16;C18;C20;C25 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD017985 Vacuolar myopathy C2931230 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD017986 Bone Marrow failure syndromes C2931245 disease Disease or Syndrome T047 Disease or Syndrome 41 BXGD017987 Potocki-Lupski syndrome C2931246 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 7 BXGD017988 Alport syndrome, dominant type C2931253 disease C16;C13;C17;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD017989 Alport syndrome, recessive type C2931254 disease C16;C13;C17;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD017990 Alzheimer disease type 1 C2931257 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 3 BXGD017991 Amaurosis congenita of Leber, type 1 C2931258 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 81 BXGD017992 Familial cerebral cavernous malformation C2931263 disease C16;C04;C10;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 4 BXGD017993 Scapuloperoneal myopathy C2931268 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD017994 Spastic paraplegia 17 C2931276 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 12 BXGD017995 Pena Shokeir syndrome Type 2 C2931277 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD017996 Perniola Krajewska Carnevale syndrome C2931280 disease C23;C17;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 2 BXGD017997 Warburton Anyane Yeboa syndrome C2931286 phenotype C23;C16;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 5 BXGD017998 Welander distal myopathy, Swedish type C2931290 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD017999 Yusho Disease C2931297 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018000 ZAP70 deficiency C2931299 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD018001 Primary syphilis C2931317 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018002 T cell immunodeficiency primary C2931320 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018003 T-Lymphocytopenia C2931322 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 17 BXGD018004 Chromosome 3, monosomy 3p25 C2931337 disease C23 Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 3 BXGD018005 Familial renal cell carcinoma C2931352 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 9 BXGD018006 Spastic paraplegia 3, autosomal dominant C2931355 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD018007 Spastic paraplegia type 5A, recessive C2931356 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 13 BXGD018008 Muscular atrophy, spinal, infantile chronic form C2931358 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD018009 Thrombocytopenia Robin sequence C2931364 disease C23;C16;C05;C10;C07;C15 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD018010 Thyroid cancer, follicular C2931367 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 58 BXGD018011 Temporomandibular ankylosis C2931375 disease C05;C07 Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T047 Disease or Syndrome 2 BXGD018012 Neonatal Torulopsis glabrata Fungemia C2931379 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD018013 Chromosomal mosaicism due to mitotic instability C2931383 phenotype C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 3 BXGD018014 Moyamoya disease 1 C2931384 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 92 BXGD018015 Leber congenital amaurosis, type 4 C2931387 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018016 Bulbospinal neuronopathy, X-linked recessive C2931395 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018017 Long QT syndrome type 3 C2931401 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD018018 Albright's hereditary osteodystrophy C2931404 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 22 BXGD018019 Bare lymphocyte syndrome 2 C2931418 disease C16;C18;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 27 BXGD018020 Orofaciodigital syndrome type1 C2931426 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 2 BXGD018021 Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections C2931429 disease C01;C20;F03 Infections; Immune System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 2 BXGD018022 Hereditary spastic paralysis, infantile onset ascending C2931441 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD018023 Prosopagnosia, hereditary C2931455 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD018024 Prostate cancer, familial C2931456 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 116 BXGD018025 Lynch syndrome I (site-specific colonic cancer) C2931459 disease C16;C06;C04;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD018026 Forney Robinson Pascoe syndrome C2931461 phenotype C23;C16;C05;C10;C09;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018027 Neurofibromatosis, Type 3, mixed central and peripheral C2931480 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 15 BXGD018028 Neurofibromatosis-Noonan syndrome C2931482 disease C16;C04;C17;C05;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD018029 Zlotogora-Ogur syndrome C2931488 disease C23;C16;C17;C05;C10;F03;C07;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD018030 Mental Retardation, X-Linked 1 C2931498 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 45 BXGD018031 Microphthalmia associated with colobomatous cyst C2931501 phenotype C23;C16;C04;C11 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD018032 Sternal cleft C2931507 Q76.7 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 2 BXGD018033 Plexosarcoma C2931518 disease C06;C04;C10 Digestive System Diseases; Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD018034 Sclerosing lymphocytic lobulitis C2931521 disease C23;C17;C15 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD018035 Methylmalonyl-Coenzyme A mutase deficiency C2931536 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018036 Chromosome 5, monosomy 5q35 C2931574 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 2 BXGD018037 Gaucher-like disease C2931585 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018038 GEMSS syndrome C2931588 disease C23;C16;C11;C05 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018039 Oculocutaneous albinism type 3 C2931599 disease C16;C18;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD018040 Gestational trophoblastic disease C2931618 O01.9 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 75 BXGD018041 Macrophagic myofasciitis C2931639 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD018042 Larsen syndrome, dominant type C2931648 disease C16;C05;C07;C26 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 2 BXGD018043 Petty Laxova Wiedemann syndrome C2931653 disease C23;C16;C18 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018044 Phacomatosis pigmentokeratotica C2931658 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD018045 Cerebral hemorrhage with amyloidosis, hereditary, Dutch type C2931672 disease C16;C18;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 20 BXGD018046 Ceroid lipofuscinosis, neuronal 1, infantile C2931673 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 14 BXGD018047 Charcot-Marie-Tooth disease, Type 1E C2931686 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018048 Dysferlinopathy C2931687 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 30 BXGD018049 Dystrophia myotonica 2 C2931689 G71.11 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 118 BXGD018050 Chromosome 17 deletion C2931713 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 2 BXGD018051 Deafness, autosomal dominant nonsyndromic sensorineural 17 C2931716 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018052 Distal Trisomy 10q Syndrome C2931728 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 1 BXGD018053 Familial Paget's disease of bone C2931732 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD018054 Epidermolytic palmoplantar keratoderma Vorner type C2931735 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD018055 Lactate dehydrogenase deficiency type A C2931743 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018056 Sulfocysteinuria C2931746 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD018057 Acquired amegakaryocytic thrombocytopenia C2931757 phenotype C23;C20;C15 Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD018058 Acquired angioedema C2931758 disease C17;C20;C14 Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD018059 Acrocallosal syndrome, Schinzel type C2931760 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 3 BXGD018060 Congenital defect of skull and scalp C2931779 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 6 BXGD018061 Amelogenesis imperfecta nephrocalcinosis C2931783 disease C16;C18;C13;C12;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 19 BXGD018062 Amyloid angiopathy C2931784 disease C18;C10;C14 Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD018063 Intracardiac myxoma C2931787 disease C04;C14 Neoplasms; Cardiovascular Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD018064 Atypical Hemolytic Uremic Syndrome C2931788 disease C13;C12;C15 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 56 BXGD018065 Deletion 11p13 C2931803 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 3 BXGD018066 Chromosome 2q37 deletion syndrome C2931817 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 9 BXGD018067 Inclusion body myopathy, autosomal dominant C2931820 disease C23;C11;C05;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD018068 Nasopharyngeal carcinoma C2931822 disease C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1553 BXGD018069 Potassium aggravated myotonia C2931826 G71.12 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 27 BXGD018070 Hyperinsulinemic hypoglycemia, familial, 1 C2931832 disease C16;C06;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD018071 Hyperinsulinemic hypoglycemia, familial, 2 C2931833 disease C16;C06;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD018072 Hyperprolinemia type 2 C2931835 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD018073 Familial hypertryptophanemia C2931837 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018074 Familial HDL deficiency C2931838 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 10 BXGD018075 Aspartylglucosamidase (AGA) deficiency C2931840 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD018076 Neurodegeneration with brain iron accumulation (NBIA) C2931845 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 40 BXGD018077 Type I familial incomplete male pseudohermaphroditism C2931847 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018078 Aase Smith syndrome 2 C2931850 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD018079 Clear-cell metastatic renal cell carcinoma C2931852 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 260 BXGD018080 Double cortex C2931857 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD018081 Acquired CJD C2931859 disease C01;C10;F03;C22 Infections; Nervous System Diseases; Mental Disorders; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018082 Hemorrhagic hereditary nephritis C2931861 disease C16;C13;C17;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD018083 Familial hyperchylomicronemia syndrome C2931862 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD018084 Dandy Walker cyst C2931867 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018085 Catalase deficiency C2931868 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD018086 Familial schizencephaly C2931870 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD018087 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells C2931875 disease C16;C18;C11;C17;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 9 BXGD018088 Reticuloendotheliosis, familial, with eosinophilia C2931884 disease C16;C18;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD018089 Pfeiffer type acrocephalosyndactyly C2931888 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD018090 Oral-facial-digital syndrome, type 2 C2931889 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018091 Necrotizing encephalopathy, infantile subacute, of Leigh C2931891 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 36 BXGD018092 Lysosomal beta-mannosidase deficiency C2931893 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018093 Papillary renal cell carcinoma, familial C2931899 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD018094 Hyperkeratosis of the palms and soles and esophageal papillomas C2931923 disease C16;C04;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD018095 Mitochondrial cytopathy C2931928 disease C23;C18;C11;C05;C10;C14 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD018096 Gestational Diabetes Insipidus C2932666 disease C13;C12;C19 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD018097 Idiopathic Juxtafoveal Retinal Telangiectasia C2932677 disease C11;C14 Eye Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018098 Inherited Peripheral Neuropathy C2932678 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD018099 Pontocerebellar Hypoplasia Type 2 C2932714 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome; Congenital Abnormality DOID:7 disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 6 BXGD018100 Pseudohypoparathyroidism Type 1B C2932715 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 8 BXGD018101 Pseudohypoparathyroidism Type 1C C2932716 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD018102 Patent Ductus Arteriosus Familial C2936170 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 6 BXGD018103 Obesity, Visceral C2936179 phenotype C18 Nutritional and Metabolic Diseases Sign or Symptom T184 Sign or Symptom 55 BXGD018104 Peri-Implantitis C2936258 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 62 BXGD018105 Digital Dermatitis C2936323 disease C01;C17;C22 Infections; Skin and Connective Tissue Diseases; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018106 Sarcoglycanopathies C2936331 disease C16;C05;C08;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD018107 Alpha-Sarcoglycanopathies C2936332 disease C16;C05;C08;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD018108 22q11 Deletion Syndrome C2936346 disease C16;C05;C19;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 31 BXGD018109 Plaque, Amyloid C2936349 disease C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality T020 Acquired Abnormality 123 BXGD018110 Plaque, Atherosclerotic C2936350 phenotype C23 Pathological Conditions, Signs and Symptoms Body Substance T031 Body Substance 5 BXGD018111 Fibroatheroma C2936351 disease C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality T020 Acquired Abnormality 8 BXGD018112 Neointima C2936380 disease C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality T020 Acquired Abnormality 40 BXGD018113 Neointima Formation C2936381 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 6 BXGD018114 46, XX Disorders of Sex Development C2936403 group C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality T019 Congenital Abnormality 6 BXGD018115 alpha-Dystroglycanopathies C2936406 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD018116 46, XX Testicular Disorders of Sex Development C2936419 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality T019 Congenital Abnormality 11 BXGD018117 Sex Chromosome Disorders of Sex Development C2936421 group C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD018118 Echogenic Bowel C2936423 disease C16;C13 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality HP:0001197 Abnormality of prenatal development or birth T019 Congenital Abnormality 4 BXGD018119 Pyogenic Sacroiliitis C2936444 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018120 Septic Sacroiliitis C2936445 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018121 Fasciculoventricular Accessory Pathway C2936458 disease C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD018122 Nodoventricular Accessory Pathway C2936459 disease C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD018123 Chronic Liver Failure C2936476 K72.1 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 25 BXGD018124 Familial CHARGE Syndrome C2936502 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 4 BXGD018125 Acquired Hypogammaglobulinemia C2936664 disease C20 Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 89 BXGD018126 Immunoglobulin Deficiency, Late-Onset C2936665 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD018127 Swyer Syndrome C2936694 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 17 BXGD018128 Intracavitary Tumors of the Heart C2936702 disease C04;C14 Neoplasms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD018129 Fetal Cerebral Ventriculomegaly C2936718 disease C10 Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 7 BXGD018130 Mechanical Allodynia C2936719 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 408 BXGD018131 Hyper-Immunoglobulin E Syndrome, Autosomal Dominant C2936739 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 22 BXGD018132 Familial Waldenstrom's Macroglobulinaemia C2936755 disease C04;C20;C15;C14 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process DOID:0014667;DOID:630;DOID:7;DOID:14566 disease of metabolism; genetic disease; disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD018133 Nevo syndrome (disorder) C2936777 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 3 BXGD018134 Hydroxymethylbilane Synthase Deficiency C2936779 disease C16;C06;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD018135 Generalized Myotonia of Thomsen C2936781 G71.12 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD018136 Colorectal cancer, hereditary nonpolyposis, type 1 C2936783 disease C16;C06;C04;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 24 BXGD018137 Aqueductal Stenosis C2936786 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 34 BXGD018138 Antley-Bixler Syndrome, Autosomal Dominant C2936791 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 9 BXGD018139 Acid cholesteryl ester hydrolase deficiency, type 2 C2936797 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD018140 Congenital hypertrichosis C2936812 Q84.2 disease C16;C13;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 6 BXGD018141 Fumaric aciduria C2936826 disease C23;C16;C18;C10;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD018142 Mycobacterium tuberculosis, susceptibility to infection by C2936833 phenotype C23;C01 Pathological Conditions, Signs and Symptoms; Infections Finding T033 Finding 1 BXGD018143 Keratosis of Greither C2936837 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD018144 Scarring alopecia C2936846 L66 disease C23;C17;C19 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD018145 Acatalasemia Japanese type C2936847 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018146 Acatalasemia Swiss type C2936848 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018147 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency C2936858 disease C16;C18;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality DOID:0014667;DOID:630 disease of metabolism; genetic disease T019 Congenital Abnormality 50 BXGD018148 Bardet-Biedl syndrome 1 (disorder) C2936862 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 20 BXGD018149 Bardet-Biedl syndrome 4 (disorder) C2936864 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 4 BXGD018150 Opitz GBBB Syndrome, X-Linked C2936904 disease C16;C13;C05;C12;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 79 BXGD018151 Porphyria, South African type C2936913 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD018152 Amylo-1,6-glucosidase deficiency C2936915 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018153 Saccharopine dehydrogenase deficiency C2936921 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018154 Congenital abnormality of vein C2937220 group C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 39 BXGD018155 Chronic ulcerative proctitis C2937222 K51.20 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD018156 Constitutional obesity C2937224 disease C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD018157 Biotin deficiency disease C2937225 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD018158 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT C2937288 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD018159 Cerebral Hemorrhage C2937358 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function HP:0000707;HP:0001871;HP:0001626 Abnormality of the nervous system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T046 Pathologic Function 122 BXGD018160 Old thrombus C2937359 disease C14 Cardiovascular Diseases Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD018161 Recurrent aphthous ulcer C2937365 K12.0 disease C07 Stomatognathic Diseases Disease or Syndrome HP:0002715;HP:0000152 Abnormality of the immune system; Abnormality of head or neck T047 Disease or Syndrome 80 BXGD018162 Prostatic Hyperplasia C2937421 disease C12 Male Urogenital Diseases Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 112 BXGD018163 Tropical infectious disease C2938901 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018164 Central Nervous System Sensitization C2938905 disease Disease or Syndrome T047 Disease or Syndrome 32 BXGD018165 Hyperintensity of cerebral white matter on MRI C2938912 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 15 BXGD018166 Distributive shock C2938913 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 4 BXGD018167 Oestrogen receptor positive breast cancer C2938924 disease Neoplastic Process T191 Neoplastic Process 510 BXGD018168 Post stroke depression C2938940 disease F03 Mental Disorders Disease or Syndrome T047 Disease or Syndrome 39 BXGD018169 Tumour rupture C2938957 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD018170 Focal cortical dysplasia C2938983 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 44 BXGD018171 Skin sensitisation C2939094 disease Disease or Syndrome T047 Disease or Syndrome 34 BXGD018172 Indolent ulcer C2939127 disease C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality T020 Acquired Abnormality 3 BXGD018173 Amyloid of cornea C2939149 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD018174 Medullary cystic disease C2939174 Q61.5 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 9 BXGD018175 Meconium ileus C2939175 P76.0 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 24 BXGD018176 Disturbance in mood C2939186 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 26 BXGD018177 Nuclear sclerosis C2939414 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD018178 Secondary Neoplasm C2939419 group C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 2492 BXGD018179 Right ventricular failure C2939447 I50.810 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 28 BXGD018180 Myeloid neoplasm C2939461 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 62 BXGD018181 Immunoglobulin deposition disease C2939462 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD018182 Deficiency of glucose-6-phosphate dehydrogenase C2939465 disease C16;C18;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 75 BXGD018183 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3 C2940785 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 8 BXGD018184 Thyroid Hormone Resistance Syndrome C2940786 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 25 BXGD018185 Attention deficit hyperactivity disorder, combined type C2945552 F90.2 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD018186 Chronic mucus hypersecretion C2945566 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD018187 Limb ischemia C2945695 disease Disease or Syndrome T047 Disease or Syndrome 171 BXGD018188 panic symptoms C2945698 phenotype Sign or Symptom T184 Sign or Symptom 6 BXGD018189 aggressive cancer C2945759 phenotype Neoplastic Process T191 Neoplastic Process 83 BXGD018190 Childhood Malignant Liver Neoplasm C2945767 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 7 BXGD018191 Urate nephropathy C2955673 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD018192 headache severe C2957106 phenotype Sign or Symptom T184 Sign or Symptom 3 BXGD018193 Tuberculous pleural effusion C2959467 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 36 BXGD018194 Endometrial sarcoma C2959547 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 6 BXGD018195 Low grade dysplastic nodule C2960064 disease Neoplastic Process T191 Neoplastic Process 1 BXGD018196 High grade dysplastic nodule C2960065 disease Neoplastic Process T191 Neoplastic Process 1 BXGD018197 Heart failure with normal ejection fraction C2960127 I50.3 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 47 BXGD018198 Vanishing white matter disease C2960129 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD018199 Cranial fasciitis C2960488 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD018200 Reactivation of hepatitis B viral hepatitis C2960634 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD018201 Invasive pituitary adenoma C2960725 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 15 BXGD018202 Calcification of muscle C2960760 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0000924;HP:0003011 Abnormality of the skeletal system; Abnormality of the musculature T047 Disease or Syndrome 4 BXGD018203 Dentinogenesis imperfecta without osteogenesis imperfecta C2973527 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD018204 Leukocytoclastic vasculitis C2973529 disease C20;C14 Immune System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD018205 Pulmonary arterial hypertension C2973725 disease C08;C14 Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system T047 Disease or Syndrome 413 BXGD018206 Coxiella burnetii Infection C2973787 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 6 BXGD018207 Immune reconstitution inflammatory syndrome [IRIS] C2976853 D89.3 disease Disease or Syndrome T047 Disease or Syndrome 33 BXGD018208 Shell teeth C2981132 K00.5 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality HP:0000152;HP:0000924;HP:0003549 Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 5 BXGD018209 Glaucoma of childhood C2981140 Q15.0 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 30 BXGD018210 Refractory anemia, without ringed sideroblasts, without excess blasts C2981142 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 38 BXGD018211 Uranostaphyloschisis C2981150 Q35.5 disease C16;C05;C08;C07;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck DOID:225;DOID:0080015 syndrome; physical disorder T019 Congenital Abnormality 190 BXGD018212 Stage I Lung Cancer AJCC v6 C2981344 disease Neoplastic Process T191 Neoplastic Process 13 BXGD018213 Stage III Lung Cancer AJCC v6 C2981348 disease Neoplastic Process T191 Neoplastic Process 1 BXGD018214 Stage IV Lung Cancer AJCC v6 C2981352 disease Neoplastic Process T191 Neoplastic Process 7 BXGD018215 Ocular Adnexal Lymphoma C2981712 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 9 BXGD018216 Stage II Nasopharyngeal Carcinoma AJCC v7 C2982437 disease Neoplastic Process T191 Neoplastic Process 3 BXGD018217 Stage IV Hypopharyngeal Carcinoma AJCC v7 C2982481 disease Neoplastic Process T191 Neoplastic Process 1 BXGD018218 Glioneuronal Tumor with Neuropil-Like Islands C2985171 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD018219 Papillary glioneuronal tumor C2985174 disease Neoplastic Process T191 Neoplastic Process 2 BXGD018220 Extraventricular neurocytoma C2985175 disease Neoplastic Process T191 Neoplastic Process 3 BXGD018221 Papillary tumor of the pineal region C2985219 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD018222 Anaplastic Medulloblastoma C2985220 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD018223 Blood Protein Measurement C2985280 phenotype Laboratory Procedure T059 Laboratory Procedure 1156 BXGD018224 Fetal Alcohol Spectrum Disorders C2985290 group C16;C13;C25 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Chemically-Induced Disorders Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 46 BXGD018225 Maternal Fever C2985306 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Sign or Symptom T184 Sign or Symptom 3 BXGD018226 Maternal Hypotension C2985307 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 2 BXGD018227 Rhabdoid tumor predisposition syndrome C2985524 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome T047 Disease or Syndrome 3 BXGD018228 Bisphosphonate-associated osteonecrosis C2986536 disease C23;C05;C07 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD018229 Pituicytoma C2986550 disease Neoplastic Process HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T191 Neoplastic Process 7 BXGD018230 Spindle Cell Oncocytoma of the Adenohypophysis C2986561 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 35 BXGD018231 Cervical Intraepithelial Neoplasia Grade 2/3 C2986622 disease Neoplastic Process T191 Neoplastic Process 9 BXGD018232 Functioning Endocrine Neoplasm C2986655 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD018233 Non-Functioning Endocrine Neoplasm C2986656 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD018234 Diffuse Intrinsic Pontine Glioma C2986658 disease Neoplastic Process T191 Neoplastic Process 87 BXGD018235 Multifocal breast carcinoma C2986662 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0002664;HP:0000769 Neoplasm; Abnormality of the breast T191 Neoplastic Process 5 BXGD018236 Multicentric Breast Carcinoma C2986664 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD018237 Early-Stage Breast Carcinoma C2986665 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 142 BXGD018238 Locally Recurrent Malignant Neoplasm C2986682 disease Neoplastic Process T191 Neoplastic Process 68 BXGD018239 Inherited bone marrow failure syndrome C2986691 disease C16;C04;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD018240 Overgrowth Syndrome C2986703 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 36 BXGD018241 Anti-N-Methyl-D-Aspartate Receptor Encephalitis C2986717 disease C04;C20;C10 Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 43 BXGD018242 Intramucosal Adenocarcinoma C2987120 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 15 BXGD018243 Digestive System Neuroendocrine Carcinoma C2987128 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD018244 Gastrointestinal Mixed Adenoneuroendocrine Carcinoma C2987129 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 10 BXGD018245 Pancreatic Intraepithelial Neoplasia-1A C2987142 disease Neoplastic Process T191 Neoplastic Process 6 BXGD018246 Pancreatic Intraepithelial Neoplasia-1B C2987143 disease Neoplastic Process T191 Neoplastic Process 5 BXGD018247 Pancreatic Intraepithelial Neoplasia-3 C2987145 disease Neoplastic Process T191 Neoplastic Process 19 BXGD018248 Pancreatic Intraductal Neoplasms C2987188 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD018249 Pancreatic Intraductal Papillary Mucinous Neoplasm, Gastric-Type C2987191 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 10 BXGD018250 Esophageal Spindle Cell Carcinoma C2987252 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 15 BXGD018251 Esophageal Neuroendocrine Carcinoma C2987262 disease Neoplastic Process T191 Neoplastic Process 4 BXGD018252 Gastric Hepatoid Adenocarcinoma C2987396 disease Neoplastic Process T191 Neoplastic Process 3 BXGD018253 Gastric Carcinoma with Lymphoid Stroma C2987397 disease Neoplastic Process T191 Neoplastic Process 4 BXGD018254 Gastric Choriocarcinoma C2987398 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 1 BXGD018255 Erythrodysplasia C2987488 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD018256 Cervix Intraepithelial Neoplasia Grade 3 AJCC v7 C2987516 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 25 BXGD018257 Alcohol Related Birth Defect C3146244 disease C16;C13;C25 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 8 BXGD018258 Stage IV Renal Cell Cancer AJCC v7 C3146249 disease Neoplastic Process T191 Neoplastic Process 3 BXGD018259 Stage III Colorectal Cancer AJCC v7 C3146250 disease Neoplastic Process T191 Neoplastic Process 44 BXGD018260 Stage IV Colorectal Cancer AJCC v7 C3146251 disease Neoplastic Process T191 Neoplastic Process 19 BXGD018261 Stage II Colorectal Cancer AJCC v7 C3146252 disease Neoplastic Process T191 Neoplastic Process 32 BXGD018262 Stage III Rectal Cancer AJCC v7 C3146253 disease Neoplastic Process T191 Neoplastic Process 1 BXGD018263 Stage III Colon Cancer AJCC v7 C3146254 disease Neoplastic Process T191 Neoplastic Process 42 BXGD018264 Stage IV Rectal Cancer AJCC v7 C3146255 disease Neoplastic Process T191 Neoplastic Process 1 BXGD018265 Stage II Colon Cancer AJCC v7 C3146257 disease Neoplastic Process T191 Neoplastic Process 48 BXGD018266 Stage I Prostate Cancer AJCC v7 C3146263 disease Neoplastic Process T191 Neoplastic Process 1 BXGD018267 Stage IV Prostate Cancer AJCC v7 C3146264 disease Neoplastic Process T191 Neoplastic Process 4 BXGD018268 Prostate cancer stage D C3146265 disease Neoplastic Process T191 Neoplastic Process 1 BXGD018269 Stage III Breast Cancer AJCC v7 C3146271 disease Neoplastic Process T191 Neoplastic Process 12 BXGD018270 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E C3148763 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD018271 Childhood-onset short-trunk short stature C3148833 disease Congenital Abnormality HP:0000924;HP:0001507 Abnormality of the skeletal system; Growth abnormality T019 Congenital Abnormality 1 BXGD018272 FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED C3148872 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018273 IMINOGLYCINURIA, DIGENIC C3148959 disease Finding T033 Finding 1 BXGD018274 Decreased activity of mitochondrial complex III C3149083 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 5 BXGD018275 GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE C3149117 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018276 SKIN/HAIR/EYE PIGMENTATION 3, BLUE/GREEN EYES C3149136 phenotype Finding T033 Finding 1 BXGD018277 Aplasia of the abdominal wall musculature C3149223 phenotype Finding HP:0025031;HP:0003011 Abnormality of the digestive system; Abnormality of the musculature T033 Finding 1 BXGD018278 ESOPHAGEAL CANCER, ALCOHOL-RELATED, SUSCEPTIBILITY TO C3149226 phenotype Finding T033 Finding 1 BXGD018279 IMMUNODEFICIENCY, COMMON VARIABLE, 1 C3149378 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD018280 HYPERALPHALIPOPROTEINEMIA 1 C3149462 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 9 BXGD018281 KELOID FORMATION C3149494 phenotype Finding T033 Finding 3 BXGD018282 LARYNGOSPASM, SEVERE NEONATAL EPISODIC C3149517 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018283 MELORHEOSTOSIS, ISOLATED C3149631 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 35 BXGD018284 CORONARY ARTERY SPASM 1, SUSCEPTIBILITY TO C3149657 phenotype Finding T033 Finding 1 BXGD018285 CORONARY ARTERY SPASM 2, SUSCEPTIBILITY TO C3149706 phenotype Finding T033 Finding 1 BXGD018286 MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) C3149750 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD018287 POLYCYSTIC KIDNEY DISEASE 1 C3149841 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 39 BXGD018288 AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13 C3149907 phenotype Finding DOID:630;DOID:7 genetic disease; disease of anatomical entity T033 Finding 1 BXGD018289 Neonatal short-trunk short stature C3149908 phenotype Finding HP:0000924;HP:0001507 Abnormality of the skeletal system; Growth abnormality T033 Finding 2 BXGD018290 PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL C3149931 disease Neoplastic Process T191 Neoplastic Process 1 BXGD018291 Mild short stature C3150077 phenotype Finding HP:0001507 Growth abnormality T033 Finding 25 BXGD018292 Aplasia/Hypoplasia of the nipples C3150086 phenotype Finding HP:0000769 Abnormality of the breast T033 Finding 16 BXGD018293 ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS C3150099 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD018294 CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB C3150154 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018295 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED C3150169 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018296 FTLD-TDP, TARDBP-RELATED C3150171 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018297 MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE) C3150172 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD018298 RETINITIS PIGMENTOSA 53 C3150208 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018299 CHROMOSOME 6q24-q25 DELETION SYNDROME C3150215 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD018300 COMPLEMENT COMPONENT 2 DEFICIENCY C3150275 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD018301 HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY C3150343 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018302 HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED C3150344 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD018303 Increased serum prostaglandin E2 C3150358 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 2 BXGD018304 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 C3150412 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD018305 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 C3150413 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018306 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 C3150415 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD018307 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 C3150416 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD018308 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 C3150417 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018309 NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 C3150419 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD018310 PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 C3150547 disease Finding T033 Finding 1 BXGD018311 Long toe C3150613 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 24 BXGD018312 Maturity-onset diabetes of the young, type 10 C3150617 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD018313 Maturity-onset diabetes of the young, type 11 C3150618 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD018314 Distal upper limb muscle weakness C3150620 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 13 BXGD018315 AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM C3150649 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018316 FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 C3150651 phenotype Finding DOID:0014667;DOID:630 disease of metabolism; genetic disease T033 Finding 63 BXGD018317 DEAFNESS, AUTOSOMAL RECESSIVE 84A C3150654 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD018318 BIRBECK GRANULE DEFICIENCY C3150657 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018319 WARSAW BREAKAGE SYNDROME C3150658 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 4 BXGD018320 MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY C3150667 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD018321 OGUCHI DISEASE 2 C3150678 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018322 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15 C3150680 phenotype Finding T033 Finding 2 BXGD018323 CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB C3150701 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD018324 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 16 C3150702 phenotype Finding DOID:630 genetic disease T033 Finding 1 BXGD018325 FOXG1 syndrome C3150705 disease C16;C10;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 5 BXGD018326 FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5 C3150714 phenotype Finding T033 Finding 1 BXGD018327 HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY C3150730 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018328 LONG QT SYNDROME 13 C3150733 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018329 IMMUNODEFICIENCY, COMMON VARIABLE, 4 C3150739 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018330 IMMUNODEFICIENCY, COMMON VARIABLE, 5 C3150740 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018331 IMMUNODEFICIENCY, COMMON VARIABLE, 6 C3150741 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018332 AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE C3150750 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018333 AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE C3150751 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018334 GLYCOGEN STORAGE DISEASE XV C3150754 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD018335 SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1 C3150755 phenotype Finding T033 Finding 1 BXGD018336 CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME C3150773 disease Disease or Syndrome T047 Disease or Syndrome 17 BXGD018337 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 C3150797 disease Finding T033 Finding 82 BXGD018338 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 C3150802 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018339 NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA C3150803 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD018340 RETINITIS PIGMENTOSA 55 C3150808 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018341 OCCULT MACULAR DYSTROPHY C3150833 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD018342 EARLY REPOLARIZATION ASSOCIATED WITH VENTRICULAR FIBRILLATION C3150852 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD018343 HEMOCHROMATOSIS, JUVENILE, DIGENIC C3150862 disease Finding T033 Finding 1 BXGD018344 CHOANAL ATRESIA AND LYMPHEDEMA C3150875 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018345 Primary hyperoxaluria type III C3150878 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD018346 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 C3150889 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018347 COCOON SYNDROME C3150891 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 3 BXGD018348 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC C3150896 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018349 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B C3150897 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018350 CARDIOMYOPATHY, DILATED, 1GG C3150898 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018351 PARKINSON DISEASE 5, AUTOSOMAL DOMINANT C3150899 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018352 METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT C3150900 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD018353 C1q DEFICIENCY C3150902 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD018354 D-2-HYDROXYGLUTARIC ACIDURIA 2 C3150909 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD018355 Brain calcification Rajab type C3150910 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018356 GASTRIC CANCER, INTESTINAL C3150911 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 34 BXGD018357 MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) C3150914 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD018358 NF1 Microdeletion Syndrome C3150928 disease C23;C16;C04;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 4 BXGD018359 Steep acetabular roof C3150931 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD018360 HYPERALDOSTERONISM, FAMILIAL, TYPE III C3150933 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018361 RUBINSTEIN-TAYBI SYNDROME 2 C3150941 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD018362 Long Qt Syndrome 2 C3150943 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 13 BXGD018363 LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO C3150956 disease Finding DOID:630;DOID:7 genetic disease; disease of anatomical entity T033 Finding 1 BXGD018364 Cardiomyopathy, Dilated, 1V C3150958 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018365 Supernumerary der(22)t(8;22) syndrome C3150966 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD018366 NOONAN SYNDROME 7 C3150970 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD018367 LEOPARD SYNDROME 3 C3150971 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD018368 NEUROPATHY, HEREDITARY SENSORY, TYPE ID C3150972 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018369 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 C3150987 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018370 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 C3150988 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD018371 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q C3150989 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018372 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 C3150998 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD018373 Retinitis Pigmentosa 4 C3151001 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018374 ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE C3151037 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018375 ACNE INVERSA, FAMILIAL, 3 C3151038 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018376 ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE C3151055 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD018377 SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE C3151056 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD018378 HETEROTAXY, VISCERAL, 4, AUTOSOMAL C3151057 disease Disease or Syndrome DOID:0080015 physical disorder T047 Disease or Syndrome 29 BXGD018379 S-adenosylhomocysteine hydrolase deficiency C3151058 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD018380 RETINITIS PIGMENTOSA 49 C3151059 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD018381 INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS C3151062 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD018382 MACULAR DEGENERATION, AGE-RELATED, 5 C3151063 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018383 46,XY SEX REVERSAL 6 C3151064 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018384 Cataract, Posterior Polar, 2 C3151065 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018385 COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE C3151071 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018386 AORTIC ANEURYSM, FAMILIAL THORACIC 7 C3151077 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD018387 Complement Component C1s Deficiency C3151078 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD018388 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II C3151080 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD018389 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I C3151081 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018390 C8 deficiency C3151082 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 2 BXGD018391 Recurrent Neisserial infections C3151083 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 1 BXGD018392 MASP2 Deficiency C3151085 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD018393 LOEYS-DIETZ SYNDROME 3 C3151087 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD018394 IMMUNODEFICIENCY 31B C3151088 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD018395 MEIER-GORLIN SYNDROME 2 C3151097 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD018396 RETINITIS PIGMENTOSA 40 (disorder) C3151107 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018397 Abnormal light- and dark-adapted electroretinogram C3151111 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 9 BXGD018398 RETINITIS PIGMENTOSA 43 C3151139 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018399 PONTOCEREBELLAR HYPOPLASIA, TYPE 2D C3151140 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD018400 Bile Acid Synthesis Defect, Congenital, 3 C3151147 disease C16;C06;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD018401 ADENOMA, CORTISOL-PRODUCING C3151153 disease Finding T033 Finding 1 BXGD018402 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 C3151184 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018403 NEPHRONOPHTHISIS 9 C3151188 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD018404 C9 Deficiency C3151189 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD018405 MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME C3151201 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD018406 LEBER CONGENITAL AMAUROSIS 8 C3151202 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD018407 Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency C3151205 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018408 FICOLIN 3 DEFICIENCY C3151226 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018409 RETINITIS PIGMENTOSA 59 C3151227 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018410 RETINITIS PIGMENTOSA 38 (disorder) C3151228 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018411 FEBRILE SEIZURES, FAMILIAL, 3B C3151229 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD018412 MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED C3151236 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018413 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 C3151268 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018414 HYPOMAGNESEMIA 6, RENAL C3151295 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD018415 Obesity, Hyperphagia, and Developmental Delay C3151303 disease C23;C18;F03 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 2 BXGD018416 CATARACT 36 C3151304 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018417 SPINOCEREBELLAR ATAXIA 32 C3151343 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD018418 DEAFNESS, AUTOSOMAL RECESSIVE 89 C3151351 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018419 OKT4 EPITOPE DEFICIENCY C3151379 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018420 CANDIDIASIS, FAMILIAL, 5 C3151402 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018421 AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA C3151403 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018422 CANDIDIASIS, FAMILIAL, 6 C3151405 disease Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 1 BXGD018423 SPERMATOGENIC FAILURE 8 C3151406 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018424 SPERMATOGENIC FAILURE 9 C3151407 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD018425 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III C3151409 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD018426 MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 C3151411 disease Mental or Behavioral Dysfunction DOID:630;DOID:150 genetic disease; disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD018427 CYANOSIS, TRANSIENT NEONATAL C3151421 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018428 OSTEOGENESIS IMPERFECTA, TYPE XII C3151433 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD018429 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 C3151443 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018430 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4 C3151444 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018431 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 C3151462 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD018432 ATRIAL FIBRILLATION, FAMILIAL, 10 C3151464 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018433 PROTEIN Z DEFICIENCY C3151465 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018434 HEPATIC LIPASE DEFICIENCY (disorder) C3151466 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD018435 Apolipoprotein C-III Deficiency C3151467 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD018436 AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED C3151470 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD018437 AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED C3151471 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD018438 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 C3151519 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018439 Early severe fetal akinesia sequence C3151520 phenotype Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 12 BXGD018440 Abnormal cervical curvature C3151523 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 4 BXGD018441 Hypoplastic heart C3151525 phenotype C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 3 BXGD018442 Abnormal iron deposition in mitochondria C3151556 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 1 BXGD018443 NEPHROTIC SYNDROME, TYPE 4 C3151568 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018444 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS C3151609 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 2 BXGD018445 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY C3151610 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 2 BXGD018446 ANTERIOR SEGMENT DYSGENESIS 7 C3151617 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD018447 ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION C3151619 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD018448 Seizures in the newborn, refractory C3151685 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD018449 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 C3151753 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD018450 MACULAR DEGENERATION, X-LINKED ATROPHIC C3151784 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018451 MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM C3151857 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018452 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED C3151867 disease Disease or Syndrome DOID:0080015 physical disorder T047 Disease or Syndrome 30 BXGD018453 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL C3151897 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD018454 MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT C3151898 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD018455 3-Methylglutaric aciduria C3151952 phenotype C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Finding HP:0001939;HP:0000119;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system; Abnormal cellular phenotype T033 Finding 3 BXGD018456 D-2-HYDROXYGLUTARIC ACIDURIA 1 C3152055 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD018457 AMYOTROPHIC LATERAL SCLEROSIS 14 WITHOUT FRONTOTEMPORAL DEMENTIA C3152097 disease Finding T033 Finding 1 BXGD018458 USH1D/F, CDH23/PCDH15, DIGENIC C3152102 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD018459 LEFT VENTRICULAR NONCOMPACTION 3 C3152137 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018460 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE C3152144 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD018461 Anterior chamber anomalies C3152182 phenotype C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 18 BXGD018462 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 C3152204 disease Finding T033 Finding 2 BXGD018463 Gastrointestinal infarctions C3152231 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 10 BXGD018464 response to SSRI C3158111 phenotype Cell Function T043 Cell Function 28 BXGD018465 BORNHOLM EYE DISEASE C3159311 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD018466 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE C3159322 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018467 Palpitations, CTCAE C3160712 phenotype Finding T033 Finding 64 BXGD018468 PARKINSON DISEASE, LATE-ONSET C3160718 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 247 BXGD018469 Cardiomyopathy, Dilated, 1u C3160720 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018470 Pulmonary function (finding) C3160731 phenotype Finding T033 Finding 41 BXGD018471 THROMBOPHILIA DUE TO THROMBIN DEFECT C3160733 phenotype Finding DOID:7 disease of anatomical entity T033 Finding 4 BXGD018472 FANCONI ANEMIA, COMPLEMENTATION GROUP D2 C3160738 disease C16;C18;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 19 BXGD018473 FANCONI ANEMIA, COMPLEMENTATION GROUP E C3160739 disease C16;C18;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD018474 Acquired cystic kidney disease C3160745 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD018475 Diabetic dyslipidaemia C3160761 disease Disease or Syndrome T047 Disease or Syndrome 28 BXGD018476 Lamellar macular hole C3160792 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD018477 Cannabis use C3160814 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 74 BXGD018478 Intraductal papillary mucinous neoplasm C3160815 disease Neoplastic Process T191 Neoplastic Process 50 BXGD018479 Viral uveitis C3160821 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD018480 Urogenital atrophy C3160829 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018481 Prostatic dysplasia C3160830 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018482 PAI-1 polymorphism C3160844 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD018483 PAI-1 4G/5G polymorphism C3160845 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD018484 Perinatal HIV infection C3160847 disease C01;C20 Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD018485 Small intestinal bacterial overgrowth C3160854 disease Disease or Syndrome T047 Disease or Syndrome 14 BXGD018486 Posterior reversible encephalopathy syndrome C3160858 I67.83 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD018487 Transitional cell carcinoma metastatic C3160869 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD018488 Non ST segment elevation acute coronary syndrome C3160886 disease Disease or Syndrome T047 Disease or Syndrome 12 BXGD018489 Node-positive breast cancer C3160887 disease Neoplastic Process T191 Neoplastic Process 40 BXGD018490 Metastatic gastric adenocarcinoma C3160888 disease Neoplastic Process T191 Neoplastic Process 2 BXGD018491 Node-negative breast cancer C3160889 disease Neoplastic Process T191 Neoplastic Process 54 BXGD018492 Hormone-dependent prostate cancer C3160891 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD018493 Uncomplicated infection C3160895 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD018494 Opioid-Induced Constipation C3160897 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 8 BXGD018495 Behcet's uveitis C3160901 disease Disease or Syndrome T047 Disease or Syndrome 14 BXGD018496 Subependymal nodular heterotopia C3160906 disease Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 1 BXGD018497 Autoimmune arthritis C3160909 disease Disease or Syndrome T047 Disease or Syndrome 113 BXGD018498 Corneal thickening C3160915 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD018499 Bladder pain syndrome C3160917 disease Disease or Syndrome T047 Disease or Syndrome 20 BXGD018500 Ventricular dyssynchrony C3160931 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018501 Hepatitis flare C3160951 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD018502 Left ventricular dyssynchrony C3160953 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD018503 Pulmonary interstitial glycogenosis C3161106 J84.842 disease C16;C18;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD018504 Hemoglobin H Constant Spring C3161173 D56.0 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD018505 Hemoglobin H Disease C3161174 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:630 genetic disease T047 Disease or Syndrome 29 BXGD018506 Hydrops fetalis due to alpha thalassemia C3161175 D56.0 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD018507 Autoimmune hemophilia C3161177 D68.311 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018508 Vitreomacular traction C3161192 H43.82 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 3 BXGD018509 Tuberculin (skin test) positive C3161220 R76.11 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD018510 Pilar and trichilemmal cysts C3161259 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018511 Profound intellectual disabilities C3161330 F73 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 112 BXGD018512 Dominant thalassemia C3161373 D56.8 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018513 Primary immunoglobulin A nephropathy (disorder) C3161650 disease C13;C12;C20 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD018514 Papillary Meningioma C3163622 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 17 BXGD018515 Squamous epithelial hyperplasia C3163727 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018516 Recurrent lower respiratory tract infection C3163798 phenotype Disease or Syndrome HP:0002715;HP:0002086 Abnormality of the immune system; Abnormality of the respiratory system T047 Disease or Syndrome 23 BXGD018517 Abnormality of aortic arch C3163801 disease Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 13 BXGD018518 Malignant epithelial neoplasm of lung C3163822 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD018519 Chondrosarcoma of bone C3163843 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD018520 Tumor thrombus C3163918 phenotype C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 50 BXGD018521 Combined large cell neuroendocrine carcinoma C3163943 disease Neoplastic Process T191 Neoplastic Process 1 BXGD018522 Dysplastic nodule C3163961 disease Anatomical Abnormality T190 Anatomical Abnormality 6 BXGD018523 Sepsis due to Salmonella C3163971 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD018524 Endocervical adenocarcinoma in situ C3163987 disease Neoplastic Process T191 Neoplastic Process 1 BXGD018525 Sarcoma of mesentery C3164096 disease Neoplastic Process T191 Neoplastic Process 1 BXGD018526 Adult onset autosomal dominant leukodystrophy C3164344 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD018527 Abnormality of pulmonary valve C3164374 disease Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 40 BXGD018528 Oligoasthenozoospermia C3164407 disease Disease or Syndrome T047 Disease or Syndrome 25 BXGD018529 Abnormality of aortic valve C3164445 disease Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 50 BXGD018530 Clinical sepsis C3164780 phenotype Disease or Syndrome T047 Disease or Syndrome 5 BXGD018531 Palisaded myofibroblastoma C3164851 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD018532 Infiltrating duct carcinoma of female breast C3165106 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 21 BXGD018533 High density lipoprotein deficiency C3165209 E78.6 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD018534 Primary malignant neoplasm of lateral wall of oropharynx C3165521 disease Neoplastic Process T191 Neoplastic Process 4 BXGD018535 Nociceptive Pain C3178766 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 25 BXGD018536 Aortic Stiffness C3178782 phenotype Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 61 BXGD018537 Widespread Chronic Pain C3178789 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 19 BXGD018538 Stroke, Lacunar C3178801 disease C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 24 BXGD018539 Social Anhedonia C3178803 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD018540 Physical Anhedonia C3178804 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD018541 Heterotaxy Syndrome C3178805 disease C16;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0080015 physical disorder T047 Disease or Syndrome 39 BXGD018542 Right Atrial Isomerism C3178806 disease C16;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality HP:0001626;HP:0001507 Abnormality of the cardiovascular system; Growth abnormality DOID:630;DOID:0080015 genetic disease; physical disorder T019 Congenital Abnormality 14 BXGD018543 Left Atrial Isomerism C3178807 disease C16;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality HP:0001626;HP:0001507 Abnormality of the cardiovascular system; Growth abnormality T019 Congenital Abnormality 6 BXGD018544 Paraneoplastic Syndromes, Ocular C3178817 disease C04;C11 Neoplasms; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018545 Pelvic Floor Disorders C3178892 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Acquired Abnormality T020 Acquired Abnormality 2 BXGD018546 Developmental Coxa Vara C3179037 disease C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018547 Corpus Callosum Malformation C3179058 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD018548 GALNS Deficiency C3179194 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD018549 Osteopetrosis Autosomal Dominant Type 2 C3179239 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD018550 Gastrointestinal Stromal Sarcoma C3179349 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 74 BXGD018551 Glanzmann Thrombasthenia, Type A C3179396 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD018552 Niemann-Pick Disease, Type C1 C3179455 disease C16;C18;C10;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 43 BXGD018553 Linear Verrucous Epidermal Nevus C3179502 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD018554 Aplasia/Hypoplasia of the thumb C3179508 phenotype C05 Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 22 BXGD018555 Idiopathic pulmonary arterial hypertension C3203102 I27.0 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 776 BXGD018556 Factor II deficiency C3203356 D68.2 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018557 Bone Tuberculosis C3203357 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD018558 Hypoventilation C3203358 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Pathologic Function HP:0002086 Abnormality of the respiratory system T046 Pathologic Function 28 BXGD018559 Pulmonary chondroma C3203483 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process HP:0002664;HP:0002086 Neoplasm; Abnormality of the respiratory system T191 Neoplastic Process 3 BXGD018560 Hypoactive delirium C3203501 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 7 BXGD018561 Mixed delirium C3203503 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD018562 Neuropsychiatric syndrome C3203509 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD018563 Acute repetitive seizure C3203523 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018564 Psychological Trauma C3203533 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 8 BXGD018565 Chronic hyperplastic eosinophilic sinusitis C3203537 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD018566 Axial spondyloarthritis C3203547 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 67 BXGD018567 Epstein-Barr virus associated lymphoma C3203574 disease C01 Infections Neoplastic Process T191 Neoplastic Process 1 BXGD018568 Crystal nephropathy C3203622 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD018569 IgG4-Related Sclerosing Disease C3203653 disease C20 Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 30 BXGD018570 Autoimmune aplastic anaemia C3203655 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018571 Autoimmune retinopathy C3203657 disease C11;C20 Eye Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD018572 NAT2 polymorphism C3203670 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD018573 CYP2D6 polymorphism C3203671 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD018574 CYP2C19 polymorphism C3203672 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD018575 Infectious pleural effusion C3203730 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018576 Precordial Catch Syndrome C3203733 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 1 BXGD018577 Erythema Multiforme Major C3241919 L51.9 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018578 Nonalcoholic Steatohepatitis C3241937 K75.81 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 434 BXGD018579 Roux-en-y Anastomosis Site C3241940 disease Acquired Abnormality T020 Acquired Abnormality 2 BXGD018580 Myocardial Disorder C3241958 group C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD018581 Familial renal glucosuria C3245525 E74.818 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD018582 Laryngopharyngeal Cancer C3249875 disease Neoplastic Process T191 Neoplastic Process 3 BXGD018583 Infection - suppurative C3249881 group C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 20 BXGD018584 MYOTONIC DYSTROPHY 1 C3250443 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 179 BXGD018585 Condylomatous carcinoma C3251817 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD018586 Dextrotransposition of aorta C3257801 Q20.3 disease C14 Cardiovascular Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 4 BXGD018587 Non-advanced adenomas C3257924 disease Neoplastic Process T191 Neoplastic Process 2 BXGD018588 Valvular disease C3258293 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD018589 Primary acquired melanosis C3263719 disease C04;C11 Neoplasms; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD018590 Refractory juvenile myoclonic epilepsy C3264000 G40.B1 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018591 Swine influenza virus (viruses that normally cause infections in pigs) C3264382 J09.X disease Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 12 BXGD018592 Buried penis C3264562 Q55.64 disease Congenital Abnormality T019 Congenital Abnormality 2 BXGD018593 Agoraphobia without panic disorder C3264595 F40.02 phenotype F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD018594 Botryoid odontogenic cyst C3266060 disease C04;C05;C07 Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD018595 Orofacial cleft C3266076 disease Congenital Abnormality T019 Congenital Abnormality 18 BXGD018596 22q11 partial monosomy syndrome C3266101 disease Disease or Syndrome T047 Disease or Syndrome 12 BXGD018597 Steroid resistant nephrotic syndrome of childhood C3266102 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 73 BXGD018598 Serrated polyp C3266123 disease C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality T190 Anatomical Abnormality 7 BXGD018599 Dropped head syndrome C3266164 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD018600 Multiple Chronic Conditions C3266262 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 929 BXGD018601 Recurrent optic neuritis C3266324 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD018602 2-methyl-3-hydroxybutyric aciduria C3266731 phenotype C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 8 BXGD018603 Severe left ventricular systolic dysfunction C3266753 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018604 47, XYY syndrome C3266843 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 9 BXGD018605 Atypical Mycobacteriosis, Familial C3266863 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD018606 Waardenburg Syndrome C3266898 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 21 BXGD018607 Acute focal bacterial nephritis C3266959 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD018608 Vascular endothelial growth factor overexpression C3267003 disease Disease or Syndrome T047 Disease or Syndrome 26 BXGD018609 Hypercalcitoninaemia C3267007 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD018610 Digital ulcer C3267035 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 3 BXGD018611 Autoimmune necrotizing myopathy C3267047 disease C05;C20;C10 Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD018612 Oesophageal fibrosis C3267070 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD018613 Autoinflammatory disease C3267073 disease Disease or Syndrome T047 Disease or Syndrome 81 BXGD018614 Familial scaphocephaly syndrome C3267076 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD018615 Trichodysplasia spinulosa C3267126 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD018616 Psychogenic movement disorder C3267131 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018617 Axial myopathy C3267178 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD018618 Three Vessel Coronary Disease C3272265 disease Disease or Syndrome T047 Disease or Syndrome 11 BXGD018619 Coronary Venous Dissection C3272309 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD018620 Gastric Neuroendocrine Tumor C3272399 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 11 BXGD018621 Gastric Neuroendocrine Carcinoma C3272409 disease Neoplastic Process T191 Neoplastic Process 2 BXGD018622 Gastric Schwannoma C3272425 disease Neoplastic Process T191 Neoplastic Process 1 BXGD018623 Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma C3272525 disease Neoplastic Process T191 Neoplastic Process 9 BXGD018624 Small Intestinal Neuroendocrine Tumor C3272528 disease Neoplastic Process T191 Neoplastic Process 6 BXGD018625 Intestinal Neuroendocrine Tumor C3272529 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD018626 Small Intestinal Neuroendocrine Carcinoma C3272531 disease Neoplastic Process T191 Neoplastic Process 2 BXGD018627 Colorectal Neuroendocrine Carcinoma C3272607 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD018628 Colorectal Large Cell Neuroendocrine Carcinoma C3272608 disease Neoplastic Process T191 Neoplastic Process 1 BXGD018629 Brain Development Abnormality C3272759 group F03 Mental Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD018630 Filiform Serrated Adenoma C3272793 disease Neoplastic Process T191 Neoplastic Process 2 BXGD018631 Hamartomatous polyposis C3272802 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Disease or Syndrome HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T047 Disease or Syndrome 23 BXGD018632 Colorectal Adenomatous Polyp C3272805 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD018633 Colorectal Serrated Adenocarcinoma C3272809 disease Neoplastic Process T191 Neoplastic Process 4 BXGD018634 Ulcerative Colitis-Associated Colorectal Adenocarcinoma C3272820 disease Neoplastic Process T191 Neoplastic Process 7 BXGD018635 Colorectal Lymphoma C3272822 disease Neoplastic Process T191 Neoplastic Process 2 BXGD018636 Colorectal Mucosa-Associated Lymphoid Tissue Lymphoma C3272830 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD018637 MUTYH-Associate Polyposis C3272841 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process T191 Neoplastic Process 73 BXGD018638 Fibroblast Growth Factor 23 Measurement C3272931 phenotype Laboratory Procedure T059 Laboratory Procedure 6 BXGD018639 Beta-Catenin-Activated Hepatocellular Adenoma C3273009 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD018640 Inflammatory Hepatocellular Adenoma C3273010 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 10 BXGD018641 High Grade Liver Dysplastic Nodule C3273016 disease Neoplastic Process T191 Neoplastic Process 8 BXGD018642 Early Hepatocellular Carcinoma C3273019 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 20 BXGD018643 Primary hepatic neuroendocrine carcinoma C3273031 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD018644 Lymphoepithelioma-Like Hepatocellular Carcinoma C3273032 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD018645 Well Differentiated Hepatocellular Carcinoma C3273033 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD018646 Moderately Differentiated Hepatocellular Carcinoma C3273034 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD018647 Poorly Differentiated Hepatocellular Carcinoma C3273035 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD018648 Hereditary Neurodegenerative Disorder C3273225 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD018649 Proliferative Inflammatory Atrophy C3273239 disease C12 Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 24 BXGD018650 Sclerosing Polycystic Adenosis C3273251 disease Neoplastic Process T191 Neoplastic Process 1 BXGD018651 Arterionephrosclerosis C3273254 disease Disease or Syndrome T047 Disease or Syndrome 11 BXGD018652 Sickle Beta 0 Thalassemia C3274463 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018653 Severe Bronchopulmonary Dysplasia C3274515 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD018654 Single Ventricle Defect C3274516 disease Congenital Abnormality T019 Congenital Abnormality 20 BXGD018655 Lipofibromatosis C3274592 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 11 BXGD018656 Neonatal Opiate Withdrawal Syndrome C3274639 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD018657 Contralateral Breast Carcinoma C3274709 disease Neoplastic Process T191 Neoplastic Process 2 BXGD018658 Chronic Total Occlusion Vessel C3275069 disease Disease or Syndrome T047 Disease or Syndrome 33 BXGD018659 One Vessel Coronary Disease C3275121 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018660 Biliary System Disorder C3275124 disease Disease or Syndrome T047 Disease or Syndrome 11 BXGD018661 Impaired tandem gait C3275367 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD018662 MENTAL RETARDATION, X-LINKED 96 C3275408 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD018663 Ragged-red muscle fibers C3275417 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 59 BXGD018664 AUTISM, SUSCEPTIBILITY TO, X-LINKED 5 C3275438 disease Finding T033 Finding 1 BXGD018665 MENTAL RETARDATION, X-LINKED 90 (disorder) C3275443 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD018666 MENTAL RETARDATION, X-LINKED 88 (disorder) C3275444 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD018667 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia C3275445 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 11 BXGD018668 Ogden syndrome C3275447 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 6 BXGD018669 Cutaneous capillary malformation C3275453 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD018670 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA C3275476 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018671 KABUKI SYNDROME 2 C3275495 disease Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 1 BXGD018672 CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME C3275521 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018673 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 C3275684 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018674 CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY C3275686 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD018675 Choriocapillaris atrophy C3275758 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 5 BXGD018676 Spondylolisthesis at L5-S1 C3275799 phenotype C05 Musculoskeletal Diseases Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD018677 USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC C3275872 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD018678 RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO C3275898 disease Finding T033 Finding 1 BXGD018679 Hyperechogenic kidneys C3275899 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 12 BXGD018680 Superior semicircular canal dehiscence syndrome C3275929 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD018681 Abnormal iris vasculature C3275963 phenotype Finding HP:0000478;HP:0001626 Abnormality of the eye; Abnormality of the cardiovascular system T033 Finding 2 BXGD018682 High anterior hairline C3276036 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 25 BXGD018683 ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS C3276096 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018684 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 C3276161 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018685 ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE C3276228 disease C23;C16;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD018686 LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1 C3276239 phenotype Finding T033 Finding 1 BXGD018687 LONG QT SYNDROME 2/3, DIGENIC C3276240 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD018688 LONG QT SYNDROME 3/6, DIGENIC Disorder C3276241 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD018689 Fifth metacarpal with ulnar notch C3276324 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD018690 USHER SYNDROME, TYPE ID/F, DIGENIC C3276419 disease Finding T033 Finding 3 BXGD018691 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY C3276549 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 14 BXGD018692 Absent or delayed speech development C3276611 phenotype Finding T033 Finding 1 BXGD018693 Toenail dysplasia C3276623 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 13 BXGD018694 Small Fiber Neuropathy C3276706 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 35 BXGD018695 Fibular duplication C3276742 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD018696 Stiff skin C3276815 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 6 BXGD018697 Thin glomerular basement membrane C3276821 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 3 BXGD018698 Horizontal eyebrow C3277019 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 11 BXGD018699 Congenital Bilateral Cataracts C3277059 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 8 BXGD018700 BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT C3277076 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD018701 Relatively short spine C3277114 disease Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 1 BXGD018702 Long coccyx C3277116 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD018703 Caudal appendage C3277117 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 6 BXGD018704 Halberd-shaped pelvis C3277119 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD018705 Hyperplasia of the femoral trochanters C3277120 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD018706 Dumbbell-shaped metaphyses C3277123 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD018707 Absent primary metaphyseal spongiosa C3277126 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD018708 Abnormal metaphyseal vascular invasion C3277127 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD018709 Decreased patellar reflex C3277184 phenotype Finding HP:0000707;HP:0040064 Abnormality of the nervous system; Abnormality of limbs T033 Finding 8 BXGD018710 Type 2 muscle fiber predominance C3277187 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 1 BXGD018711 Restrictive ventilatory defect C3277226 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 61 BXGD018712 HYPERSENSITIVITY SYNDROME, CARBAMAZEPINE-INDUCED, SUSCEPTIBILITY TO C3277286 phenotype Finding T033 Finding 1 BXGD018713 Multiple mitochondrial DNA deletions C3277376 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 6 BXGD018714 Gastrointestinal hamartomatous polyps C3277418 disease Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T191 Neoplastic Process 4 BXGD018715 THROMBOCYTHEMIA 1 C3277671 disease Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 5 BXGD018716 EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC C3277679 disease Neoplastic Process T191 Neoplastic Process 1 BXGD018717 Central nervous system degeneration C3277687 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD018718 Progressive forgetfulness C3277688 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD018719 LONG QT SYNDROME 1/2, DIGENIC (disorder) C3277700 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD018720 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6 C3277701 disease Finding DOID:7 disease of anatomical entity T033 Finding 1 BXGD018721 JOUBERT SYNDROME 12 C3277723 disease Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 1 BXGD018722 Deep-set nails C3277753 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 5 BXGD018723 17,20-Lyase Deficiency, Isolated C3277849 disease C16;C18;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD018724 TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1 C3277918 phenotype Finding DOID:0014667;DOID:630 disease of metabolism; genetic disease T033 Finding 1 BXGD018725 Generalized hypertrichosis C3277940 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 6 BXGD018726 Atretic gallbladder C3277945 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 1 BXGD018727 Enlarged cerebellum C3278024 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD018728 BERNARD-SOULIER SYNDROME, TYPE A1 C3278148 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD018729 GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET C3278153 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018730 GLUTARIC ACIDEMIA IIB C3278155 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD018731 GLUTARIC ACIDEMIA IIC C3278156 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD018732 Dysmyelinating leukodystrophy C3278204 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD018733 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT C3278211 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018734 Red cell adenylate kinase deficiency C3278252 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018735 Diffuse glomerular basement membrane lamellation C3278307 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 3 BXGD018736 Cerebellar dysplasia C3278322 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 15 BXGD018737 HEMOGLOBIN H HYDROPS FETALIS SYNDROME C3278365 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD018738 HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY C3278384 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018739 Hypopigmentation of hair C3278401 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 23 BXGD018740 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS C3278404 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD018741 Bilateral elbow dislocations C3278429 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD018742 Spinal fusion C3278509 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 67 BXGD018743 Orotic acid crystalluria C3278626 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 1 BXGD018744 Neonatal insulin-dependent diabetes mellitus C3278636 phenotype Finding HP:0001939;HP:0000818 Abnormality of metabolism/homeostasis; Abnormality of the endocrine system T033 Finding 10 BXGD018745 Linear hyperpigmentation C3278658 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 4 BXGD018746 Thumb aplasia C3278811 disease C05 Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 22 BXGD018747 Pigment gallstones C3278865 phenotype C06 Digestive System Diseases Finding HP:0025031 Abnormality of the digestive system T033 Finding 2 BXGD018748 Dilated ventricles (finding) C3278923 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 427 BXGD018749 Attenuation of retinal blood vessels C3278975 phenotype Finding HP:0000478;HP:0001626 Abnormality of the eye; Abnormality of the cardiovascular system T033 Finding 41 BXGD018750 LONG QT SYNDROME 2/9, DIGENIC C3279093 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD018751 Aplasia/Hypoplasia of the cerebellum C3279222 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 116 BXGD018752 Progressive flexion contractures C3279322 phenotype Finding HP:0000924;HP:0003549;HP:0003011 Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T033 Finding 6 BXGD018753 Impaired gluconeogenesis C3279336 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 3 BXGD018754 Microphthalmia (in some patients) C3279369 phenotype Finding T033 Finding 1 BXGD018755 Very long chain fatty acid accumulation C3279397 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 15 BXGD018756 Hypoplasia of the abdominal wall musculature C3279407 phenotype Finding HP:0025031;HP:0003011 Abnormality of the digestive system; Abnormality of the musculature T033 Finding 3 BXGD018757 Recurrent spontaneous abortion C3279439 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 7 BXGD018758 HYPOTRICHOSIS 8 C3279470 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 13 BXGD018759 Hypergranulosis C3279547 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 16 BXGD018760 Cryptozoospermia C3279550 phenotype C12 Male Urogenital Diseases Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 3 BXGD018761 HEMOGLOBIN H DISEASE, NONDELETIONAL C3279561 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD018762 Osteogenesis Imperfecta, Type VI C3279564 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD018763 Ectopic posterior pituitary C3279571 phenotype Finding HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T033 Finding 16 BXGD018764 Reticulated skin pigmentation C3279575 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 8 BXGD018765 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO C3279614 disease Finding T033 Finding 1 BXGD018766 Glyoxalase deficiency C3279658 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD018767 alpha-2-Macroglobulin Deficiency C3279661 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018768 Leukotriene C4 Synthase Deficiency C3279662 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018769 Frontoparietal polymicrogyria C3279674 phenotype C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD018770 Perisylvian polymicrogyria C3279675 phenotype C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD018771 MOYAMOYA DISEASE 5 C3279690 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD018772 ATRIAL FIBRILLATION, FAMILIAL, 12 C3279695 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018773 MYOPATHY, DISTAL, 4 C3279722 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018774 Hip flexor weakness C3279725 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 16 BXGD018775 SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE C3279738 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD018776 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE C3279743 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD018777 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 C3279748 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD018778 CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE C3279757 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD018779 ANHAPTOGLOBINEMIA C3279786 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD018780 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 C3279793 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD018781 KEPPEN-LUBINSKY SYNDROME C3279800 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018782 MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 C3279839 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD018783 Pyruvate Dehydrogenase E1-Beta Deficiency C3279841 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD018784 Hereditary Sensory and Autonomic Neuropathy Type Ie C3279885 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018785 Hydrolethalus Syndrome 2 C3279899 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD018786 CHITOTRIOSIDASE DEFICIENCY C3279902 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018787 Lactate Dehydrogenase B Deficiency C3279904 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD018788 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 C3279905 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018789 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 C3279947 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 77 BXGD018790 DEAFNESS, AUTOSOMAL DOMINANT 64 C3279948 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018791 Decreased serum thromboxane B2 C3279980 phenotype Finding T033 Finding 2 BXGD018792 CANDIDIASIS, FAMILIAL, 7 C3279990 disease Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 1 BXGD018793 PARAGANGLIOMAS 5 C3279992 disease Disease or Syndrome DOID:630;DOID:7;DOID:14566 genetic disease; disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 1 BXGD018794 BRITTLE CORNEA SYNDROME 2 C3280011 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD018795 GATA2 Deficiency C3280030 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 9 BXGD018796 JOUBERT SYNDROME 13 C3280031 disease Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 2 BXGD018797 RETINITIS PIGMENTOSA 62 C3280042 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD018798 GELEOPHYSIC DYSPLASIA 2 C3280054 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018799 CRANIOSYNOSTOSIS AND DENTAL ANOMALIES C3280073 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD018800 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3 C3280094 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018801 TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2 C3280096 phenotype Finding T033 Finding 1 BXGD018802 NEPHROTIC SYNDROME, TYPE 6 C3280100 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018803 MYASTHENIC SYNDROME, CONGENITAL, 16 C3280112 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018804 Glycoprotein IA Deficiency C3280114 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018805 Glycoprotein VI deficiency C3280120 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018806 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 C3280127 disease Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 1 BXGD018807 Long eyebrows C3280131 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 3 BXGD018808 PARKINSON DISEASE 17 C3280133 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018809 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16 C3280154 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD018810 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 C3280160 phenotype Finding T033 Finding 1 BXGD018811 NEUROPATHY, HEREDITARY SENSORY, TYPE IIC C3280168 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018812 WARBURG MICRO SYNDROME 3 C3280203 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD018813 HOLOPROSENCEPHALY 11 C3280215 disease Disease or Syndrome DOID:630;DOID:7;DOID:225;DOID:0080015 genetic disease; disease of anatomical entity; syndrome; physical disorder T047 Disease or Syndrome 1 BXGD018814 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O C3280220 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018815 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 C3280265 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD018816 PARKINSON DISEASE 18 C3280271 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018817 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT C3280282 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD018818 MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 C3280283 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD018819 MENTAL RETARDATION, AUTOSOMAL DOMINANT 10 C3280284 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD018820 Abnormal hair whorl C3280303 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 5 BXGD018821 ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY C3280309 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018822 Platelet-Activating Factor Acetylhydrolase Deficiency C3280315 disease C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 1 BXGD018823 MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION C3280346 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018824 Peripheral vitreoretinal degeneration C3280349 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD018825 HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY C3280381 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD018826 EDICT syndrome C3280392 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD018827 COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA C3280415 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018828 Alpha-Methylacyl-CoA Racemase Deficiency C3280428 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD018829 PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 C3280442 disease Finding T033 Finding 1 BXGD018830 PITT-HOPKINS-LIKE SYNDROME 2 C3280479 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD018831 TUMOR PREDISPOSITION SYNDROME C3280492 disease Disease or Syndrome T047 Disease or Syndrome 16 BXGD018832 INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1 C3280501 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018833 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 31 C3280523 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD018834 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 29 C3280525 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD018835 PANCREATIC LIPASE DEFICIENCY C3280527 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018836 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 C3280538 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD018837 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 33 C3280539 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD018838 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 30 C3280540 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD018839 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 19 C3280541 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD018840 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 23 C3280542 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD018841 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 24 C3280543 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD018842 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 25 C3280544 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD018843 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 28 C3280545 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD018844 PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS C3280556 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018845 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 C3280574 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018846 Mannose-Binding Protein Deficiency C3280586 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 25 BXGD018847 AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE C3280587 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018848 Nephronophthisis-like nephropathy C3280617 phenotype Finding T033 Finding 1 BXGD018849 Decreased serum complement C4b C3280641 disease Disease or Syndrome HP:0002715 Abnormality of the immune system DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD018850 Complement Component 4a Deficiency C3280642 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD018851 BACTEREMIA, SUSCEPTIBILITY TO, 2 C3280647 phenotype Finding T033 Finding 1 BXGD018852 ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION C3280660 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD018853 PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2 C3280672 disease Finding T033 Finding 1 BXGD018854 PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3 C3280674 phenotype Finding T033 Finding 1 BXGD018855 ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO C3280690 phenotype Finding T033 Finding 1 BXGD018856 Upper limb dysmetria C3280708 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD018857 GLYCEROL QUANTITATIVE TRAIT LOCUS C3280715 phenotype Finding T033 Finding 1 BXGD018858 CHILBLAIN LUPUS 2 C3280721 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018859 SYSTEMIC LUPUS ERYTHEMATOSUS 16 C3280742 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD018860 Abnormality of the posterior cranial fossa C3280768 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 4 BXGD018861 VENTRICULAR SEPTAL DEFECT 3 C3280785 disease Disease or Syndrome; Congenital Abnormality DOID:7 disease of anatomical entity T047;T019 Disease or Syndrome; Congenital Abnormality 1 BXGD018862 HYPOPLASTIC LEFT HEART SYNDROME 2 C3280795 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD018863 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P C3280797 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD018864 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB C3280798 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD018865 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB C3280799 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018866 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 C3280800 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD018867 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 C3280817 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018868 THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) C3280866 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018869 HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES C3280887 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018870 JOUBERT SYNDROME 12/15, DIGENIC C3280899 disease Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 2 BXGD018871 HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE C3280953 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018872 PORENCEPHALY 2 C3280970 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018873 Thrombophilia due to Thrombomodulin Defect C3280976 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018874 SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE C3280977 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD018875 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 C3281027 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD018876 RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL C3281029 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD018877 Multifocal seizures C3281034 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD018878 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY C3281044 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD018879 USHER SYNDROME, TYPE IIIB C3281066 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 2 BXGD018880 MIRROR MOVEMENTS 2 C3281089 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018881 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE C3281092 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018882 HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO C3281105 disease Finding T033 Finding 2 BXGD018883 THROMBOCYTHEMIA 3 C3281125 disease Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 1 BXGD018884 EFAVIRENZ, POOR METABOLISM OF C3281153 phenotype Finding T033 Finding 1 BXGD018885 EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 C3281160 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD018886 SCN8A-related epilepsy with encephalopathy C3281191 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD018887 INFANTILE CEREBELLAR-RETINAL DEGENERATION C3281192 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD018888 LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS C3281200 disease C16;C04;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 33 BXGD018889 MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 C3281201 disease C23;C16;C05;C10;F03;C07;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:225;DOID:150 genetic disease; syndrome; disease of mental health T047 Disease or Syndrome 6 BXGD018890 MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 C3281202 disease Mental or Behavioral Dysfunction DOID:630;DOID:150 genetic disease; disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD018891 CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL C3281203 disease Neoplastic Process T191 Neoplastic Process 1 BXGD018892 CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME C3281223 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD018893 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 C3281234 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD018894 BARAITSER-WINTER SYNDROME 2 C3281235 disease Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 1 BXGD018895 BENT BONE DYSPLASIA SYNDROME C3281247 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD018896 TRICHOHEPATOENTERIC SYNDROME 2 C3281289 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD018897 Glandular papilloma C3282896 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 2 BXGD018898 Metastatic Carcinoma in the Liver C3282903 disease Neoplastic Process T191 Neoplastic Process 1 BXGD018899 MYELODYSPLASTIC SYNDROME C3463824 D46.9 group C15 Hemic and Lymphatic Diseases Neoplastic Process HP:0002664;HP:0001871 Neoplasm; Abnormality of blood and blood-forming tissues DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1033 BXGD018900 HYDATIDIFORM MOLE, RECURRENT, 1 C3463897 disease Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 66 BXGD018901 Complement Factor I (C3 inactivator) deficiency C3463916 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD018902 Corticosterone Methyl Oxidase Type II Deficiency C3463917 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD018903 EMBRYONAL CELL CARCINOMA C3463918 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD018904 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 C3463992 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 12 BXGD018905 FANCONI ANEMIA, COMPLEMENTATION GROUP C C3468041 disease C16;C18;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 22 BXGD018906 Juvenile amyotrophic lateral sclerosis C3468114 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD018907 CARPAL TUNNEL SYNDROME, FAMILIAL C3468338 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018908 familial atrial fibrillation C3468561 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function T046 Pathologic Function 157 BXGD018909 HEMOCHROMATOSIS, TYPE 1 C3469186 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 83 BXGD018910 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) C3469521 disease C16;C18;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 360 BXGD018911 BREAST CANCER, SUSCEPTIBILITY TO C3469522 phenotype Finding T033 Finding 11 BXGD018912 PROSTATE CANCER, SUSCEPTIBILITY TO C3469524 phenotype Finding T033 Finding 5 BXGD018913 PANCREATIC CANCER, SUSCEPTIBILITY TO C3469525 phenotype Finding T033 Finding 1 BXGD018914 FANCONI ANEMIA, COMPLEMENTATION GROUP F C3469526 disease C16;C18;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 13 BXGD018915 FANCONI ANEMIA, COMPLEMENTATION GROUP L C3469528 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD018916 FANCONI ANEMIA, COMPLEMENTATION GROUP M C3469529 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD018917 PSEUDOHYPOALDOSTERONISM, TYPE IID C3469605 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD018918 PSEUDOHYPOALDOSTERONISM, TYPE IIE C3469606 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018919 Severe dehydration C3472181 disease C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD018920 Chronic hepatitis E C3472600 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 5 BXGD018921 Micropapillary carcinoma C3472608 disease Neoplastic Process T191 Neoplastic Process 29 BXGD018922 Plasmablastic lymphoma C3472614 C83.3 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 47 BXGD018923 Myeloid neoplasm with beta-type platelet-derived growth factor receptor gene rearrangement C3472621 disease Neoplastic Process T191 Neoplastic Process 1 BXGD018924 Serrated adenocarcinoma C3472623 disease Neoplastic Process T191 Neoplastic Process 11 BXGD018925 B lymphoblastic leukemia lymphoma, no ICD-O subtype C3472624 disease Neoplastic Process T191 Neoplastic Process 2 BXGD018926 Primary adenocarcinoma of colon C3472669 disease Neoplastic Process T191 Neoplastic Process 3 BXGD018927 Non-allergic rhinitis C3472698 disease C01;C08;C09 Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD018928 Hiatal Hernia C3489393 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0025031;HP:0003549 Abnormality of the digestive system; Abnormality of connective tissue DOID:7 disease of anatomical entity T047 Disease or Syndrome 39 BXGD018929 Hypogonadism, Isolated Hypogonadotropic C3489396 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000119;HP:0000818 Abnormality of the genitourinary system; Abnormality of the endocrine system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 42 BXGD018930 Neuroepithelioma, Peripheral C3489398 disease C04;C17;C10 Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 7 BXGD018931 Lipomatosis, Multiple C3489413 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 54 BXGD018932 Hyperkalemic Periodic Paralysis Type 2 C3489447 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018933 Tooth Agenesis, Familial C3489529 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 10 BXGD018934 Cone-Rod Dystrophy 2 C3489532 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 254 BXGD018935 Familial Extrahepatic Biliary Atresia C3489571 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD018936 Idiopathic Extrahepatic Biliary Atresia C3489572 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD018937 Sexual Violence C3489576 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD018938 Thrombocytosis, Autosomal Dominant C3489628 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD018939 Somatotrophinoma, Familial C3489630 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 18 BXGD018940 Vision Disability C3489704 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD018941 Aicardi-Goutieres Syndrome 2 C3489724 disease C16;C20;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 6 BXGD018942 Pseudo-TORCH syndrome C3489725 disease C16;C20;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 7 BXGD018943 Geleophysic dysplasia C3489726 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 10 BXGD018944 Familial intrahepatic cholestasis of pregnancy C3489728 disease C06;C13 Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 4 BXGD018945 Oculomotor apraxia C3489733 disease C23;C11;C10;F01;C14 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome HP:0000707;HP:0000478 Abnormality of the nervous system; Abnormality of the eye T047 Disease or Syndrome 92 BXGD018946 Anti-plasmin deficiency, congenital C3489734 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018947 Keratosis Palmaris et Plantaris Familiaris C3489771 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD018948 Cholestasis, Progressive Familial Intrahepatic, 2 C3489789 disease C06 Digestive System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD018949 Parkinson Disease, Familial, Type 1 C3489791 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 46 BXGD018950 46,XY Sex Reversal 3 C3489793 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 3 BXGD018951 Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant C3489795 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD018952 Thyroid Hormone Resistance, Generalized, Autosomal Recessive C3489796 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD018953 Cold Hypersensitivity C3489856 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD018954 Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency C3492932 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD018955 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 C3493776 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD018956 Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous C3494162 disease C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD018957 Autosomal Hemophilia A C3494186 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD018958 Factor VIII Deficiency C3494187 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues DOID:630 genetic disease T047 Disease or Syndrome 9 BXGD018959 Organothiophosphonate Poisoning C3494247 disease C25 Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 4 BXGD018960 Organothiophosphate Poisoning C3494248 disease C25 Chemically-Induced Disorders Injury or Poisoning T037 Injury or Poisoning 4 BXGD018961 Prodromal Symptoms C3494358 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 15 BXGD018962 Prodromal States C3494359 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 3 BXGD018963 Prodromal Period C3494360 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 3 BXGD018964 Prodromal Stage C3494361 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 8 BXGD018965 Dentofacial Deformities C3494419 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality T190 Anatomical Abnormality 2 BXGD018966 Retrognathia C3494422 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 191 BXGD018967 Autoimmune polyendocrinopathy syndrome, type 1 C3494489 disease C20;C19 Immune System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD018968 Pseudohypoparathyroidism, Type Ia C3494506 disease C16;C18;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 30 BXGD018969 Hypergonadotropic Ovarian Failure, X-Linked C3494522 disease C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD018970 Asymptomatic carotid artery stenosis C3494609 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD018971 Mild dementia C3494623 disease C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 16 BXGD018972 Severe dementia C3494652 disease C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 19 BXGD018973 Moderate dementia C3494871 disease C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD018974 Early infantile epileptic encephalopathy, refractory C3494899 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD018975 Benign paroxysmal torticollis of infancy C3494934 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 1 BXGD018976 Idiopathic urethral stricture C3494970 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD018977 Migrating partial seizures in infancy C3494976 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD018978 Bacteremia caused by Gram-negative bacteria C3495091 phenotype C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD018979 Apraxia, Articulatory C3495144 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD018980 Dyslalia C3495145 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD018981 Hemifacial microsomia C3495417 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck DOID:225 syndrome T019 Congenital Abnormality 8 BXGD018982 Chromosome 18q syndrome C3495421 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 4 BXGD018983 Homocysteinemia C3495426 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 21 BXGD018984 Fanconi-Bickel Syndrome C3495427 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 15 BXGD018985 American cutaneous leishmaniasis C3495436 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 19 BXGD018986 Inflammatory disorder of breast C3495439 N61 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD018987 Axenfeld-Rieger syndrome C3495488 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 22 BXGD018988 Rieger eye malformation sequence C3495489 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 13 BXGD018989 Cardiomyopathy, Familial Hypertrophic, 1 (disorder) C3495498 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD018990 Congenital alopecia X-linked C3495530 disease C23;C16;C17 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD018991 Patent ductus arteriosus - persisting type C3495549 disease C16;C08;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 30 BXGD018992 Dihydropyrimidinuria C3495551 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD018993 Cystathionase Deficiency C3495552 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD018994 Juvenile arthritis C3495559 M08.9 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 450 BXGD018995 Reflux nephropathy (disorder) C3495566 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD018996 Night Blindness, Congenital Stationary, Type 1A C3495587 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 13 BXGD018997 Acrocephalopolydactylous Dysplasia C3495588 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 2 BXGD018998 Jalili syndrome C3495589 disease C16;C11;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD018999 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e C3495591 disease C23;C16;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019000 Anorectal Malformations C3495676 group C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T190 Anatomical Abnormality 112 BXGD019001 Spitzoid melanoma C3495721 disease Neoplastic Process T191 Neoplastic Process 14 BXGD019002 Peripheral artery stenosis C3495797 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019003 Periodontal inflammation C3495798 disease Disease or Syndrome T047 Disease or Syndrome 82 BXGD019004 Granulomatosis with polyangiitis C3495801 M31.3 disease C08;C20;C14 Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 126 BXGD019005 Fulminant type 1 diabetes mellitus C3495814 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD019006 Aluminium overload C3495831 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD019007 Pancreatic steatosis C3495840 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD019008 Nonepileptic Seizures C3495874 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 102 BXGD019009 Osteochondral defects C3495890 phenotype Anatomical Abnormality T190 Anatomical Abnormality 17 BXGD019010 Congenital thrombophilia C3495893 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD019011 Delayed dark adaptation C3495915 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019012 Advanced breast cancer C3495917 disease Neoplastic Process T191 Neoplastic Process 151 BXGD019013 Enthesitis-Related Arthritis C3495919 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 42 BXGD019014 Thyroid associated orbitopathy C3495928 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD019015 Vertebral body haemangioma C3495935 disease Neoplastic Process T191 Neoplastic Process 1 BXGD019016 Locally advanced breast cancer C3495949 disease Neoplastic Process T191 Neoplastic Process 71 BXGD019017 cocaine use C3496069 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 67 BXGD019018 Atypical psychosis C3496177 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD019019 Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia C3496228 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD019020 Idiopathic Nephrotic Syndrome C3496337 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 51 BXGD019021 Male Germ Cell Tumor C3496549 disease C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD019022 Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive C3501372 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD019023 Mental Retardation, X-Linked Nonsyndromic C3501611 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD019024 Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to C3501647 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019025 Bleeding Disorder due to Defective Thromboxane A2 Receptor C3501679 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019026 alpha-1-Antitrypsin Deficiency, Autosomal Recessive C3501835 disease C23;C16;C06;C08 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019027 Nonmedullary Thyroid Carcinoma C3501843 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0002664 Abnormality of the endocrine system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 89 BXGD019028 Familial Nonmedullary Thyroid Cancer C3501844 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 66 BXGD019029 Noonan-Like Syndrome With Loose Anagen Hair C3501846 disease C23;C16;C17;C05;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 22 BXGD019030 Night blindness, congenital stationary, type 1 C3501847 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD019031 Nephrosis, congenital C3501848 N04 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 31 BXGD019032 Leukemia, Acute, X-Linked C3501854 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD019033 Mitochondrial DNA Depletion Syndrome, Myopathic Form C3501891 disease C18;C05;C10 Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD019034 Cerebrocostomandibular-Like Syndrome C3501912 disease C23;C16;C05;C10;F03;C07;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 2 BXGD019035 Microcephaly with Chorioretinopathy, Autosomal Dominant C3501946 disease C16;C11;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD019036 Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive C3502051 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019037 Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant C3502052 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019038 Dyskeratosis Congenita, Autosomal Recessive C3502105 disease C16;C17;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 3 BXGD019039 Breastfeeding Jaundice C3502107 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 1 BXGD019040 Homocystinuria, Pyridoxine-Responsive C3502110 disease C16;C18;C17;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019041 Adrenal Insufficiency, Congenital C3502131 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD019042 Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal C3502132 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019043 Lactic Acidosis, Fatal Infantile C3502298 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD019044 Atrial Septal Defect with Atrioventricular Conduction Defects C3502353 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019045 Amyotrophic Lateral Sclerosis 10 C3502417 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019046 Microcephaly with Chorioretinopathy, Autosomal Recessive C3502492 disease C16;C11;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD019047 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal C3502495 disease C16;C04;C13;C17;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019048 Chromosome 16p13.3 Deletion Syndrome C3502510 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019049 Generalized Epilepsy with Febrile Seizures Plus C3502809 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 13 BXGD019050 Acquired C1 inhibitor deficiency C3506079 disease C17;C20;C14 Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019051 Chronic obstructive pulmonary disease exacerbation C3508933 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD019052 Fetal heart failure C3532172 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019053 Inflammatory cardiomyopathy C3532222 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 25 BXGD019054 Valvular cardiomyopathy C3532225 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019055 Mitochondrial cardiomyopathy C3532239 disease Disease or Syndrome T047 Disease or Syndrome 23 BXGD019056 Fetal cardiomyopathy C3532247 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019057 Fetal dilated cardiomyopathy C3532251 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019058 Usual ductal hyperplasia of breast C3532429 disease Neoplastic Process T191 Neoplastic Process 2 BXGD019059 Moderate expressive language delay C3532933 disease Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 2 BXGD019060 Mixed dementia C3532942 disease C10;F03;C14 Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 12 BXGD019061 Moderate receptive language delay C3532946 phenotype Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 1 BXGD019062 Severe receptive language delay C3532947 disease Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 4 BXGD019063 Infection caused by Norovirus C3534585 group C01 Infections Disease or Syndrome T047 Disease or Syndrome 18 BXGD019064 Diabetic Heart Disease C3534591 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD019065 End stage renal disease due to hypertension C3536572 disease C13;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD019066 Grand mal status epilepticus, refractory C3536587 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019067 Chronic cerebrovascular accident C3536593 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD019068 Acute deep venous thrombosis C3536663 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD019069 Renal dysplasia C3536714 Q61.4 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T019 Congenital Abnormality 95 BXGD019070 AA amyloidosis C3536715 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 38 BXGD019071 Hypoplastic pelvis C3536734 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 15 BXGD019072 Lumbar meningomyelocele C3536738 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD019073 Cervical meningomyelocele C3536740 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD019074 Discordant ventriculoarterial connection C3536741 Q20.3 disease Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 10 BXGD019075 Acute disseminated encephalitis C3536864 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019076 Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor C3536893 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 95 BXGD019077 Surfactant protein D measurement C3536958 phenotype Laboratory Procedure T059 Laboratory Procedure 6 BXGD019078 Familial Hypophosphatemic Rickets C3536983 disease C16;C18;C13;C05;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 43 BXGD019079 Vitamin D-Resistant Rickets, X-Linked C3536984 disease C16;C18;C13;C05;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 48 BXGD019080 Non-venereal endemic syphilis C3537179 A65 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 2 BXGD019081 Cystinosis, Infantile Nephropathic C3537440 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD019082 DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT C3538946 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 10 BXGD019083 AICARDI-GOUTIERES SYNDROME 6 C3539013 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD019084 Bart's Hemoglobinopathy C3539063 disease C23;C16;C13;C20;C15 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 5 BXGD019085 PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A C3539168 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 34 BXGD019086 Progressive cGVHD C3539781 disease Disease or Syndrome T047 Disease or Syndrome 384 BXGD019087 Triple Negative Breast Neoplasms C3539878 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 1674 BXGD019088 MYOCLONUS, FAMILIAL CORTICAL C3539916 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019089 ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE C3539920 disease Disease or Syndrome T047 Disease or Syndrome 25 BXGD019090 INTERLEUKIN 6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS C3540094 phenotype Finding T033 Finding 1 BXGD019091 Congenital Amaurosis of Retinal Origin C3540662 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD019092 Coloboma of the Retina C3540764 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 58 BXGD019093 CATARACT 4, MULTIPLE TYPES C3540850 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019094 Rickets, X-Linked Hypophosphatemic C3540852 disease C16;C18;C13;C05;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 23 BXGD019095 Soluble Transferrin Receptor Measurement C3541318 phenotype Laboratory Procedure T059 Laboratory Procedure 7 BXGD019096 Spondyloepiphyseal Dysplasia Tarda, X-Linked C3541456 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 20 BXGD019097 ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT C3541517 disease Disease or Syndrome T047 Disease or Syndrome 18 BXGD019098 ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT C3541518 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019099 Sperm Motility Measurement C3541908 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD019100 Drug Hypersensitivity Syndrome C3541994 D72.12 disease C17;C20;C25 Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 43 BXGD019101 Duchenne and Becker Muscular Dystrophy C3542021 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD019102 AORTIC VALVE DISEASE 2 C3542024 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD019103 AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE C3542025 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 31 BXGD019104 Aminoacylase 2 Deficiency C3542499 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019105 ADH-Resistant Diabetes Insipidus C3542500 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD019106 Acute Infective Polyneuritis C3542501 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD019107 Surgical incision wound (morphologic abnormality) C3543005 disease C26 Wounds and Injuries Acquired Abnormality T020 Acquired Abnormality 10 BXGD019108 Borderline mucinous tumour of ovary C3544204 disease Neoplastic Process T191 Neoplastic Process 1 BXGD019109 Ovarian clear cell carcinoma C3544205 disease Neoplastic Process T191 Neoplastic Process 103 BXGD019110 Reversible cerebral vasoconstriction syndrome C3544214 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD019111 Congenital intestinal obstruction C3544229 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD019112 Intrahepatic cholangiocarcinoma recurrent C3544265 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD019113 Hepatobiliary cancer C3544266 disease Neoplastic Process T191 Neoplastic Process 11 BXGD019114 Treatment-resistant schizophrenia C3544321 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 23 BXGD019115 Prostatic fibrosis C3544328 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019116 Intestinal fibrosis C3544347 phenotype Anatomical Abnormality T190 Anatomical Abnormality 65 BXGD019117 response to temozolomide C3546688 phenotype Cell Function T043 Cell Function 1 BXGD019118 response to metformin C3547187 phenotype Cell Function T043 Cell Function 3 BXGD019119 response to fenofibrate C3547188 phenotype Cell Function T043 Cell Function 4 BXGD019120 response to bronchodilator C3548479 phenotype Organism Function T040 Organism Function 131 BXGD019121 response to alcohol C3548532 phenotype Cell Function T043 Cell Function 5 BXGD019122 response to irinotecan C3548801 phenotype Cell Function T043 Cell Function 1 BXGD019123 response to statin C3549252 phenotype Organism Function T040 Organism Function 6 BXGD019124 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 C3549447 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD019125 Deafness (in some patients) C3549665 phenotype Finding T033 Finding 1 BXGD019126 Retinal thinning C3549703 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 11 BXGD019127 Breast cancer, lobular C3549742 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 25 BXGD019128 Uterine leiomyosarcoma (less common) C3549860 phenotype C04 Neoplasms Finding T033 Finding 1 BXGD019129 Cutaneous leiomyosarcoma (less common) C3549861 phenotype C04 Neoplasms Finding T033 Finding 1 BXGD019130 Renal cell carcinoma, solitary papillary type 2 (about 20% of patients) C3549862 phenotype C04 Neoplasms Finding T033 Finding 1 BXGD019131 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC C3550024 phenotype Finding T033 Finding 1 BXGD019132 Recurrent thrombophlebitis C3550150 phenotype C14 Cardiovascular Diseases Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 5 BXGD019133 PEROXISOME BIOGENESIS DISORDER 2B C3550234 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD019134 PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) C3550273 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD019135 Eclabion C3550430 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 6 BXGD019136 PEROXISOME BIOGENESIS DISORDER 3B C3550693 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD019137 Abnormality of digit C3550704 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 9 BXGD019138 Hypoplasia of the calcaneus C3550873 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD019139 AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 C3550875 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019140 BARATELA-SCOTT SYNDROME C3550876 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019141 CORNELIA DE LANGE SYNDROME 5 C3550903 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD019142 MENTAL RETARDATION, X-LINKED, SYNDROMIC 32 C3550913 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD019143 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 C3550973 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 19 BXGD019144 Night blindness, stationary C3551052 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 10 BXGD019145 UV-SENSITIVE SYNDROME 1 C3551173 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD019146 Dystrophic fingernails C3551426 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 27 BXGD019147 Sparse or absent eyelashes C3551431 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 13 BXGD019148 MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO C3551915 phenotype Finding T033 Finding 5 BXGD019149 COENZYME Q10 DEFICIENCY, PRIMARY, 1 C3551954 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD019150 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 C3552236 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019151 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR C3552311 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019152 MYASTHENIC SYNDROME, CONGENITAL, 12 C3552335 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019153 Deviation of the thumb C3552414 phenotype C05 Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD019154 AUTISM, SUSCEPTIBILITY TO, 14A C3552491 phenotype Finding T033 Finding 1 BXGD019155 Talus valgus C3552501 phenotype Finding T033 Finding 1 BXGD019156 Metaphyseal sclerosis C3552526 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 7 BXGD019157 Generalized ichthyosis C3552528 phenotype C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD019158 LYMPHOPROLIFERATIVE SYNDROME 1 C3552634 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019159 EEG with photoparoxysmal response C3552821 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD019160 Enhancement of the C-reflex C3552824 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD019161 Jerk-locked premyoclonus spikes C3552825 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD019162 Peripheral retinal atrophy C3553016 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 2 BXGD019163 Bilateral cleft palate C3553084 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 11 BXGD019164 COFFIN-SIRIS SYNDROME 4 C3553249 disease Disease or Syndrome DOID:630;DOID:225;DOID:150 genetic disease; syndrome; disease of mental health T047 Disease or Syndrome 1 BXGD019165 ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE C3553250 disease C23;C16;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD019166 DIARRHEA 6 C3553270 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD019167 HYPEREKPLEXIA 2 C3553291 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD019168 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 C3553330 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD019169 Subcortical heterotopia C3553331 phenotype Finding T033 Finding 1 BXGD019170 Limited hip extension C3553368 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 4 BXGD019171 COENZYME Q10 DEFICIENCY, PRIMARY, 5 C3553374 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD019172 CORTISONE REDUCTASE DEFICIENCY 2 C3553382 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD019173 PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT C3553418 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019174 PONTOCEREBELLAR HYPOPLASIA, TYPE 1B C3553449 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD019175 Profound global developmental delay C3553450 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 58 BXGD019176 SOLUBLE INTERLEUKIN-6 RECEPTOR, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS C3553493 phenotype Finding T033 Finding 1 BXGD019177 CORNELIA DE LANGE SYNDROME 4 C3553517 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 6 BXGD019178 GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY C3553587 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019179 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 C3553606 disease Finding T033 Finding 1 BXGD019180 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 C3553617 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019181 MYASTHENIC SYNDROME, CONGENITAL, 13 C3553645 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019182 Malan overgrowth syndrome C3553660 disease C23;C16;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD019183 HETEROTAXY, VISCERAL, 6, AUTOSOMAL C3553676 disease Disease or Syndrome DOID:0080015 physical disorder T047 Disease or Syndrome 30 BXGD019184 AMYOTROPHIC LATERAL SCLEROSIS 18 C3553719 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019185 Absent toe C3553754 disease Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 8 BXGD019186 LOEYS-DIETZ SYNDROME 4 C3553762 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD019187 Joint hyperflexibility C3553764 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 181 BXGD019188 INTERSTITIAL NEPHRITIS, KARYOMEGALIC C3553774 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD019189 ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 C3553788 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019190 SPERMATOGENIC FAILURE 10 C3553793 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019191 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 C3553813 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD019192 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 C3553816 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019193 HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA C3553843 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019194 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 C3553859 disease Finding DOID:7 disease of anatomical entity T033 Finding 1 BXGD019195 OSTEOGENESIS IMPERFECTA, TYPE XIII C3553887 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019196 T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS C3553943 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD019197 METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA C3553958 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019198 SINOATRIAL NODE DYSFUNCTION AND DEAFNESS C3554018 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019199 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 C3554079 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD019200 PERRAULT SYNDROME 2 C3554105 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD019201 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 C3554129 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD019202 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 C3554168 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD019203 Congenital pontocerebellar hypoplasia type 8 C3554209 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019204 LEPTIN DEFICIENCY OR DYSFUNCTION C3554224 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 15 BXGD019205 LEPTIN RECEPTOR DEFICIENCY C3554225 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD019206 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 C3554241 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD019207 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 C3554316 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019208 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 C3554321 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019209 NEPHROTIC SYNDROME, TYPE 7 C3554330 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD019210 Phosphohydroxylysinuria C3554344 disease Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T047 Disease or Syndrome 2 BXGD019211 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q C3554366 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD019212 Microcephalic primordial dwarfism Alazami type C3554439 disease C23;C16;C05;C10;C19;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 4 BXGD019213 BRACHYDACTYLY, TYPE A1, C C3554446 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD019214 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 C3554449 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD019215 COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 C3554460 disease Finding T033 Finding 166 BXGD019216 MITOCHONDRIAL DNA DEPLETION SYNDROME 11 C3554462 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD019217 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 C3554478 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019218 COWDEN SYNDROME 5 C3554518 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019219 COWDEN SYNDROME 6 C3554519 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019220 MICROPHTHALMIA, ISOLATED 8 C3554524 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019221 LYMPHOPROLIFERATIVE SYNDROME 2 C3554540 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD019222 Young adult onset C3554568 phenotype Finding T033 Finding 8 BXGD019223 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 C3554574 phenotype Finding T033 Finding 1 BXGD019224 MAPLE SYRUP URINE DISEASE, MILD VARIANT C3554575 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD019225 RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME C3554593 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019226 Contracture of the proximal interphalangeal joint of the 5th finger C3554612 phenotype Finding HP:0040064;HP:0000924;HP:0003549;HP:0003011 Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T033 Finding 3 BXGD019227 Ulnar deviation of the 3rd finger C3554614 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD019228 Adducted thumb C3554617 phenotype C05 Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 74 BXGD019229 CARDIOMYOPATHY, DILATED, 1II C3554649 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019230 LISSENCEPHALY 5 C3554657 disease Disease or Syndrome DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T047 Disease or Syndrome 2 BXGD019231 BLEEDING DISORDER, PLATELET-TYPE, 15 C3554663 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019232 IMMUNODEFICIENCY 11 C3554686 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019233 IMMUNODEFICIENCY 56 C3554687 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019234 AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE C3554689 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019235 ATAXIA-OCULOMOTOR APRAXIA 3 C3554690 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD019236 Morning glory anomaly C3554721 disease Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD019237 Complete duplication of thumb phalanx C3554724 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 8 BXGD019238 Functional intestinal obstruction C3639956 phenotype C06 Digestive System Diseases Finding HP:0025031 Abnormality of the digestive system T033 Finding 8 BXGD019239 Unbearable Pain C3640014 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 2 BXGD019240 Renal Artery Disease C3640053 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019241 High Grade Astrocytic Tumor C3640999 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD019242 Congenital Bleeding Disorder C3641106 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD019243 Placental Malformation C3642304 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019244 Luminal A Breast Carcinoma C3642345 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 153 BXGD019245 Luminal B Breast Carcinoma C3642346 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 103 BXGD019246 Basal-Like Breast Carcinoma C3642347 disease Neoplastic Process T191 Neoplastic Process 245 BXGD019247 Autosomal Recessive Centronuclear Myopathy C3645536 G71.228 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 16 BXGD019248 Congenital Osteopetrosis C3645711 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD019249 Secondary malignant neoplasm of ovary C3647143 C79.6 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 17 BXGD019250 Vasculogenic erectile dysfunction C3647902 N52.0 disease C12;F03 Male Urogenital Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 6 BXGD019251 Congenital condition C3649644 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD019252 Dysbiosis C3658208 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 1 BXGD019253 Hypertriglyceridemic Waist C3658248 phenotype C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Sign or Symptom T184 Sign or Symptom 11 BXGD019254 Prostatic Cancer, Castration-Resistant C3658266 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 12 BXGD019255 Prostatic Neoplasms, Castration-Resistant C3658267 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 9 BXGD019256 Drug-Induced Acute Liver Injury C3658290 disease C06;C25 Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 413 BXGD019257 Hereditary Antithrombin Deficiency C3658294 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD019258 Zellweger Spectrum C3658299 disease C16;C06;C18;C13;C12;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 21 BXGD019259 Mycoplasma-Induced Stevens-Johnson Syndrome C3658301 disease C17;C20;C25;C07 Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 30 BXGD019260 Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum C3658302 disease C17;C20;C25;C07 Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 50 BXGD019261 Nodding Syndrome C3658353 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019262 Partial Fetal Alcohol Syndrome C3661483 disease C16;C13;C25 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 5 BXGD019263 Autosomal Dominant Myotubular Myopathy C3661489 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD019264 Hereditary Motor Neuronopathy C3661519 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD019265 Congenital Intestinal Aganglionosis C3661523 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD019266 Autosomal Recessive Chronic Granulomatous Disease C3661525 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD019267 Static encephalopathy C3662068 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD019268 Fetal anencephaly C3662259 disease C16;C13;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD019269 Drug pseudoallergy C3662272 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD019270 Allergic sensitization C3662483 disease Disease or Syndrome T047 Disease or Syndrome 85 BXGD019271 Catastrophic antiphospholipid syndrome C3662487 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019272 Acquired sensorineural hearing loss C3662490 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Acquired Abnormality T020 Acquired Abnormality 2 BXGD019273 Discogenic pain C3662528 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD019274 Keratitis-Ichthyosis-Deafness Syndrome C3665333 disease C11 Eye Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD019275 Cutis laxa, autosomal recessive C3665335 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 17 BXGD019276 Bacterial sepsis of newborn C3665339 P36 disease C23;C16;C01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections Disease or Syndrome T047 Disease or Syndrome 48 BXGD019277 Progressive Cone Dystrophy C3665342 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 7 BXGD019278 Unspecified visual loss C3665346 H54.7 phenotype C23;C11 Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom T184 Sign or Symptom 235 BXGD019279 Visual Impairment C3665347 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 422 BXGD019280 Secondary hypothyroidism C3665349 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 47 BXGD019281 Galactorrhea C3665358 disease C13;C17 Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Finding HP:0000769 Abnormality of the breast T033 Finding 6 BXGD019282 Arteriosclerotic cardiovascular disease, NOS C3665365 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 58 BXGD019283 2,8-Dihydroxyadenine Urolithiasis C3665382 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 6 BXGD019284 Abnormal vision C3665386 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 115 BXGD019285 intracranial glioma C3665419 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 108 BXGD019286 Hemoglobin M Disease C3665425 D74.0 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD019287 Mature cataract C3665439 disease C11 Eye Diseases Acquired Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T020 Acquired Abnormality 1 BXGD019288 Neutrophilia (disorder) C3665444 disease C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 150 BXGD019289 Dementia due to Alzheimer's disease (disorder) C3665464 disease C10;F03 Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 35 BXGD019290 Bilateral Deafness C3665473 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding T033 Finding 20 BXGD019291 Familial Osteochondritis Dissecans C3665488 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD019292 Borderline epithelial tumor of ovary C3665489 disease Neoplastic Process T191 Neoplastic Process 3 BXGD019293 Congenital anomaly of cardiovascular system (disorder) C3665496 group C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD019294 Melanocytic nevus of skin C3665593 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 103 BXGD019295 Warts C3665596 disease C01;C17 Infections; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:0050117 disease by infectious agent T191 Neoplastic Process 39 BXGD019296 Hypomineralization of enamel of tooth C3665628 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome HP:0000152;HP:0000924;HP:0003549 Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue T047 Disease or Syndrome 7 BXGD019297 Dental fluorosis C3665629 disease Congenital Abnormality T019 Congenital Abnormality 24 BXGD019298 Undifferentiated attention deficit disorder C3665679 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD019299 Congenital reticular ichthyosiform erythroderma C3665704 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD019300 Intracranial artery dissection C3665731 phenotype Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD019301 Metastatic Dermatofibrosarcoma Protuberans C3665732 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 11 BXGD019302 Hypocalvaria C3665771 disease Congenital Abnormality T019 Congenital Abnormality 2 BXGD019303 Streptococcal endocarditis C3665800 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD019304 Intracranial germ cell tumor C3665801 disease Neoplastic Process T191 Neoplastic Process 2 BXGD019305 CYP2B6 polymorphism C3665815 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019306 Perinatal stroke C3665816 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD019307 Hypocarnitinaemia C3665817 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019308 Parenteral nutrition associated liver disease C3665858 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD019309 Passenger lymphocyte syndrome C3665905 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD019310 Neutrophilic folliculitis C3665918 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019311 Myopic choroidal neovascularization C3665926 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD019312 Renal hypoperfusion C3665927 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019313 Influenza due to Influenza A virus subtype H7N9 C3665951 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD019314 Oral aversion C3665983 disease Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 7 BXGD019315 Secondary pulmonary arterial hypertension C3665995 I27.21 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019316 Transfusion dependent anaemia C3666003 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD019317 Breakthrough infection C3666010 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019318 Cholangiopathy C3666017 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD019319 Hypermetria (finding) C3668822 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding T033 Finding 4 BXGD019320 Atelosteogenesis Type 3 C3668942 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 1 BXGD019321 Circling behavior C3668948 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 14 BXGD019322 Round cell tumor C3669048 disease Neoplastic Process T191 Neoplastic Process 12 BXGD019323 11-Beta-hydroxylase deficiency C3669121 disease C16;C18;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD019324 5-Alpha Reductase Deficiency C3669122 disease C16;C18;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD019325 Progressive retinal atrophy C3669212 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD019326 Mammary adenocarcinoma C3669246 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 29 BXGD019327 Orthokeratotic hyperkeratosis C3670629 disease Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 3 BXGD019328 Myofiber disarray C3671015 phenotype Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 2 BXGD019329 Cyclic Hematopoesis C3671688 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019330 Hypernatriuria C3671887 disease Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T047 Disease or Syndrome 17 BXGD019331 Bile duct hyperplasia C3672440 disease Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 9 BXGD019332 Ataxia Neuropathy Spectrum C3683791 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019333 Chromosome 17p Deletion Syndrome C3683846 phenotype C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 2 BXGD019334 Biliary hyperplasia C3686778 disease Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 6 BXGD019335 Middle Eastern Respiratory Syndrome C3687801 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019336 Broad uvula C3693299 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD019337 Giant Cell Fibroblastoma C3693482 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 77 BXGD019338 Middle East Respiratory Syndrome C3694279 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 53 BXGD019339 GLYCOGEN STORAGE DISEASE IXa1 C3694531 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD019340 Glycogen storage disease, type IXA C3694532 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019341 GLYCOGEN STORAGE DISEASE, TYPE IIIb C3695006 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019342 GLYCOGEN STORAGE DISEASE, TYPE IIIa C3695007 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019343 Symptomatic carotid artery stenosis C3695086 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD019344 Astrocytoma of brain C3695127 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 7 BXGD019345 Chronic kidney disease due to hypertension C3695318 I12 disease C13;C12;C14 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD019346 3-Methylglutaconic Aciduria C3696376 E71.111 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939;HP:0000119;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system; Abnormal cellular phenotype DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 20 BXGD019347 Pulpalgia C3696893 phenotype C23;C07 Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Sign or Symptom T184 Sign or Symptom 1 BXGD019348 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy C3696898 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 17 BXGD019349 Precapillary pulmonary hypertension C3696954 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019350 Coronary microvascular dysfunction C3696962 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD019351 Ulcerative colitis in remission C3697010 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD019352 Pulmonary arterial hypertension associated with congenital heart disease C3697119 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD019353 Fibrous dysplasia of bone with intramuscular myxoma C3697137 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019354 Systemic lupus erythematosus in remission C3697170 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019355 Short lower third of face C3697248 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 33 BXGD019356 15q24 Microdeletion C3697269 disease C23;C16;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Congenital Abnormality DOID:630 genetic disease T019 Congenital Abnormality 5 BXGD019357 Oculoskeletal dysplasia C3697376 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD019358 Spinal cord myoclonus C3697670 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 4 BXGD019359 Acute flaccid paralysis C3697716 phenotype Sign or Symptom T184 Sign or Symptom 10 BXGD019360 Proliferative verrucous oral leukoplakia C3697776 disease C23;C04;C07 Pathological Conditions, Signs and Symptoms; Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD019361 Intractable nausea and vomiting C3697880 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD019362 Telangiectatic focal nodular hyperplasia C3697893 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019363 Sialadenoma papilliferum C3697936 disease Neoplastic Process T191 Neoplastic Process 2 BXGD019364 Pulmonary arterial hypertension associated with connective tissue disease C3697982 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019365 Inherited aminoaciduria C3698119 group C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 2 BXGD019366 Cardiac channelopathy C3698186 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD019367 Noninvasive carcinoma ex pleomorphic adenoma C3698226 disease Neoplastic Process T191 Neoplastic Process 1 BXGD019368 Cerebral cortex myoclonus C3698239 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 14 BXGD019369 Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis C3698354 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019370 Refractory myoclonic epilepsy C3698357 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019371 Peri-implant mucositis C3698407 disease C07 Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD019372 Axillary web syndrome C3698497 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019373 Post-traumatic Porencephaly C3698507 phenotype C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Acquired Abnormality DOID:7 disease of anatomical entity T020 Acquired Abnormality 2 BXGD019374 Alcohol abuse or dependence C3699402 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 11 BXGD019375 Cap Myopathy C3710589 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 9 BXGD019376 Torticollis, familial C3710741 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019377 Metatropic Dysplasia Type 1 C3711162 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019378 Surfactant Dysfunction C3711368 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD019379 Succinate-Coa Ligase Deficiency C3711369 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD019380 Spastic Paraplegia Type 7 C3711370 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD019381 Spastic Paraplegia Type 4 C3711371 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD019382 Nonsyndromic Deafness C3711374 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 163 BXGD019383 Isodicentric Chromosome 15 Syndrome C3711376 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 39 BXGD019384 Intranuclear Rod Myopathy C3711377 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019385 Inherited Thyroxine-Binding Globulin Deficiency C3711378 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019386 Huntington Disease-Like Syndrome C3711380 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD019387 Hereditary Diffuse Leukoencephalopathy with Spheroids C3711381 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD019388 Early-Onset Glaucoma C3711383 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD019389 Distal Hereditary Motor Neuropathy, Type II C3711384 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 8 BXGD019390 Deoxyguanosine Kinase Deficiency C3711385 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD019391 Autosomal Recessive Primary Microcephaly C3711387 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7;DOID:0080015 genetic disease; disease of anatomical entity; physical disorder T047 Disease or Syndrome 33 BXGD019392 African Hemochromatosis C3711388 disease C08;C24 Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019393 Actin-Accumulation Myopathy C3711389 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD019394 9q22.3 Microdeletion C3711390 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 1 BXGD019395 Hdl Deficiency, Type 2 C3711531 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD019396 X-Linked Csnb C3711543 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD019397 Pdgfrb-Associated Chronic Eosinophilic Leukemia C3711560 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019398 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency C3711645 disease C16;C18;C05;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T047 Disease or Syndrome 8 BXGD019399 Nonsyndromic Holoprosencephaly C3711749 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7;DOID:225;DOID:0080015 disease of anatomical entity; syndrome; physical disorder T047 Disease or Syndrome 4 BXGD019400 Opticospinal Multiple Sclerosis C3711850 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD019401 Ppm-X Syndrome C3713418 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD019402 Familial Hyperaldosteronism C3713420 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 15 BXGD019403 Trisomy Xq28 C3714043 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019404 Bmpr1a-Related Juvenile Polyposis C3714239 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome T047 Disease or Syndrome 2 BXGD019405 Smad4-Related Juvenile Polyposis C3714240 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome T047 Disease or Syndrome 2 BXGD019406 Reactive airway disease C3714497 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002715;HP:0002086 Abnormality of the immune system; Abnormality of the respiratory system T047 Disease or Syndrome 1 BXGD019407 Meckel syndrome type 1 C3714506 disease C23;C16;C13;C11;C12;C08;C10;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 53 BXGD019408 Nutrition Disorders C3714509 group C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667 disease of metabolism T047 Disease or Syndrome 12 BXGD019409 Infection C3714514 group C01 Infections Pathologic Function T046 Pathologic Function 491 BXGD019410 Fibromyxosarcoma C3714524 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 33 BXGD019411 dowling-degos disease C3714534 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 53 BXGD019412 Malocclusion, Angle class II C3714535 M26.212 disease C07 Stomatognathic Diseases Anatomical Abnormality T190 Anatomical Abnormality 5 BXGD019413 Lymphoma, Diffuse C3714542 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 49 BXGD019414 Hypokalemic periodic paralysis type 1 C3714580 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 12 BXGD019415 Multicystic Dysplastic Kidney C3714581 Q61.4 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 121 BXGD019416 Staphylococcal toxic shock syndrome C3714602 disease C23;C01 Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome T047 Disease or Syndrome 28 BXGD019417 Primary Hyperthyroidism C3714618 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD019418 Insulin resistance syndrome C3714619 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 62 BXGD019419 Neuropathic pain C3714625 phenotype C23 Pathological Conditions, Signs and Symptoms Finding T033 Finding 3 BXGD019420 Respirovirus Infections C3714630 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD019421 Pneumonitis C3714636 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 697 BXGD019422 Thymus Neoplasms C3714644 group C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process HP:0000818;HP:0002715;HP:0002664;HP:0001626 Abnormality of the endocrine system; Abnormality of the immune system; Neoplasm; Abnormality of the cardiovascular system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 31 BXGD019423 Follicular Variant Thyroid Gland Papillary Carcinoma C3714651 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 36 BXGD019424 AV Block Second Degree by ECG Finding C3714697 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding T033 Finding 4 BXGD019425 Early childhood caries C3714731 K02 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 30 BXGD019426 Psychosexual dysfunction C3714744 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD019427 Malabsorption C3714745 phenotype C06 Digestive System Diseases Finding HP:0025031 Abnormality of the digestive system T033 Finding 175 BXGD019428 RETINOSCHISIS 1, X-LINKED, JUVENILE C3714753 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 33 BXGD019429 Intellectual Disability C3714756 group C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 2165 BXGD019430 Juvenile rheumatoid arthritis C3714757 M08.0 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 183 BXGD019431 Juvenile psoriatic arthritis C3714758 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 138 BXGD019432 Drug-induced tardive dyskinesia C3714760 disease C23;C10;C25 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 94 BXGD019433 Recurrent fevers C3714772 A68 phenotype Sign or Symptom DOID:0050117 disease by infectious agent T184 Sign or Symptom 48 BXGD019434 Isolated somatotropin deficiency C3714796 disease Disease or Syndrome HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T047 Disease or Syndrome 168 BXGD019435 Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia C3714844 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD019436 Axenfeld-Rieger Syndrome, Type 1 C3714873 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 7 BXGD019437 SYMPHALANGISM, PROXIMAL, 1A C3714899 disease C05 Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD019438 MYOPATHY, MYOFIBRILLAR, 3 C3714934 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD019439 OTOFACIOCERVICAL SYNDROME 1 C3714941 disease Disease or Syndrome T047 Disease or Syndrome 16 BXGD019440 PACHYONYCHIA CONGENITA 3 C3714948 disease Disease or Syndrome T047 Disease or Syndrome 209 BXGD019441 PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO C3714958 phenotype Finding T033 Finding 1 BXGD019442 ACTIVATED PI3K-DELTA SYNDROME C3714976 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD019443 CAP MYOPATHY 1 C3714994 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019444 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 C3715082 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD019445 HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 C3715128 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD019446 Necrotising myositis C3715147 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD019447 AMYOTROPHIC LATERAL SCLEROSIS 19 C3715155 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019448 AMYOTROPHIC LATERAL SCLEROSIS 20 C3715156 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD019449 Primary congenital hypothyroidism C3715197 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD019450 RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 C3715199 disease Disease or Syndrome DOID:0080015 physical disorder T047 Disease or Syndrome 2 BXGD019451 AV Block First Degree by ECG Finding C3715208 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding T033 Finding 28 BXGD019452 RETINITIS PIGMENTOSA 66 C3715216 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019453 Pathergy reaction C3804968 phenotype Sign or Symptom T184 Sign or Symptom 3 BXGD019454 Benign genitourinary tract neoplasm C3804991 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm T191 Neoplastic Process 2 BXGD019455 Acquired antithrombin III deficiency C3805038 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019456 Phospholipidosis C3805040 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD019457 Vascular cognitive impairment C3805043 disease Disease or Syndrome T047 Disease or Syndrome 42 BXGD019458 Prodromal Alzheimer's disease C3805054 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 13 BXGD019459 Portal fibrosis C3805083 phenotype C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 15 BXGD019460 Hyperfibrinolysis C3805089 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 12 BXGD019461 Methylenetetrahydrofolate reductase gene mutation C3805092 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD019462 Parkinson's disease psychosis C3805119 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD019463 Non-transfusion dependent thalassaemia C3805143 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD019464 Chronic hepatitis C virus genotype 1 C3805156 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 8 BXGD019465 Appendicolith C3805175 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019466 Pulmonary leukostasis C3805186 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019467 Hypoxic respiratory failure C3805211 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019468 Hepatitis B flare C3805214 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD019469 Post polycythaemia vera myelofibrosis C3805232 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD019470 Post essential thrombocythaemia myelofibrosis C3805233 disease Neoplastic Process T191 Neoplastic Process 3 BXGD019471 Mid aortic syndrome C3805239 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019472 Late onset neutropenia C3805247 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD019473 Type B gastritis C3805272 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019474 Extrahepatic Cholangiocarcinoma C3805278 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 119 BXGD019475 Congenital heart disease (variable) C3805326 phenotype Finding T033 Finding 1 BXGD019476 Pits of palms and soles C3805371 phenotype Finding T033 Finding 1 BXGD019477 CATARACT 30 C3805411 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD019478 Popliteal pterygium C3805420 phenotype C11 Eye Diseases Finding HP:0001574;HP:0000924 Abnormality of the integument; Abnormality of the skeletal system T033 Finding 6 BXGD019479 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION C3805432 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD019480 Microorchidism C3805515 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD019481 Increased fracture rate C3805574 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 123 BXGD019482 CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED C3805618 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019483 Generalized muscle hypertrophy C3805639 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 3 BXGD019484 Short stepped shuffling gait C3805715 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 16 BXGD019485 Medial rotation of the medial malleolus C3805726 phenotype C05 Musculoskeletal Diseases Finding HP:0040064 Abnormality of limbs T033 Finding 1 BXGD019486 MEGALENCEPHALY, AUTOSOMAL DOMINANT C3805727 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD019487 Sebaceous gland tumors C3805742 disease Neoplastic Process T191 Neoplastic Process 2 BXGD019488 NEUROCUTANEOUS MELANOSIS, SOMATIC C3805812 phenotype Finding T033 Finding 1 BXGD019489 VON HIPPEL-LINDAU SYNDROME, MODIFIER OF C3805838 phenotype Finding T033 Finding 1 BXGD019490 Central hypoventilation C3805839 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding HP:0002086 Abnormality of the respiratory system T033 Finding 16 BXGD019491 Cutaneous lichen amyloidosis C3805845 phenotype Finding T033 Finding 1 BXGD019492 Hyperpigmentation in sun-exposed areas C3805877 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 3 BXGD019493 Increased cup-to-disc ratio C3805911 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 4 BXGD019494 Recurrent intrapulmonary hemorrhage C3805919 phenotype Finding HP:0001871;HP:0002086;HP:0001626 Abnormality of blood and blood-forming tissues; Abnormality of the respiratory system; Abnormality of the cardiovascular system T033 Finding 7 BXGD019495 Scapular muscle atrophy C3805969 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 4 BXGD019496 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 C3806153 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019497 Spotty hypopigmentation C3806178 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 6 BXGD019498 Spotty hyperpigmentation C3806179 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 5 BXGD019499 Neonatal breathing dysregulation C3806216 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 5 BXGD019500 Episodic tachypnea C3806218 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding HP:0002086 Abnormality of the respiratory system T033 Finding 31 BXGD019501 Giant melanosomes in melanocytes C3806221 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 4 BXGD019502 Ectopic calcification C3806226 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD019503 Laryngotracheal stenosis C3806280 phenotype C16;C08;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding HP:0002086 Abnormality of the respiratory system T033 Finding 3 BXGD019504 Scarring alopecia of scalp C3806301 phenotype Finding HP:0001574;HP:0000152;HP:0003549 Abnormality of the integument; Abnormality of head or neck; Abnormality of connective tissue T033 Finding 13 BXGD019505 Periarticular subcutaneous nodules C3806306 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 2 BXGD019506 Hyperhomocystinemia C3806347 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 11 BXGD019507 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION C3806402 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD019508 Continuous spike and waves during slow sleep C3806403 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD019509 Numerous congenital melanocytic nevi C3806415 phenotype C04 Neoplasms Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD019510 Myoclonic spasms C3806442 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 10 BXGD019511 Increased urinary taurine C3806447 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 3 BXGD019512 Apneic episodes precipitated by illness, fatigue, stress C3806462 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding HP:0002086 Abnormality of the respiratory system T033 Finding 12 BXGD019513 Respiratory insufficiency due to muscle weakness C3806467 phenotype C08 Respiratory Tract Diseases Finding HP:0002086;HP:0003011 Abnormality of the respiratory system; Abnormality of the musculature T033 Finding 85 BXGD019514 Recurrent respiratory infections C3806482 phenotype C01;C08 Infections; Respiratory Tract Diseases Finding HP:0002715;HP:0002086 Abnormality of the immune system; Abnormality of the respiratory system T033 Finding 318 BXGD019515 Horizontal ribs C3806510 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 13 BXGD019516 Horizontal inferior border of scapula C3806511 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD019517 Disproportionate shortening of the tibia C3806516 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD019518 Tibial deviation of toes C3806533 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD019519 Functional abnormality of the bladder C3806583 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 3 BXGD019520 Infantile axial hypotonia C3806604 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 17 BXGD019521 Macular hypopigmented whorls, streaks, and patches C3806616 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD019522 DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION C3806634 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019523 Enteroviral dermatomyositis syndrome C3806660 disease Disease or Syndrome HP:0002715 Abnormality of the immune system T047 Disease or Syndrome 1 BXGD019524 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 C3806702 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019525 MENTAL RETARDATION, X-LINKED 98 C3806730 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD019526 MENTAL RETARDATION, X-LINKED 99 C3806746 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD019527 PULMONARY VENOOCCLUSIVE DISEASE 1 C3806932 disease Finding T033 Finding 1 BXGD019528 Giant somatosensory evoked potentials C3806961 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD019529 Intermittent episodes of respiratory insufficiency due to muscle weakness C3807025 phenotype Finding HP:0002086;HP:0003011 Abnormality of the respiratory system; Abnormality of the musculature T033 Finding 14 BXGD019530 CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT C3807295 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD019531 Acute rhabdomyolysis C3807306 phenotype C05 Musculoskeletal Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 5 BXGD019532 MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY C3807541 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD019533 Widening of cervical spinal canal C3807591 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD019534 Apneic episodes in infancy C3807980 phenotype C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding HP:0002086 Abnormality of the respiratory system T033 Finding 6 BXGD019535 CATARACT 23, MULTIPLE TYPES C3808012 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019536 Episodic abdominal pain C3808022 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0025031;HP:0025142 Abnormality of the digestive system; Constitutional symptom T033 Finding 39 BXGD019537 Nemaline bodies C3808039 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 15 BXGD019538 Breathing dysregulation C3808046 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 12 BXGD019539 Renal hypodysplasia C3808069 phenotype Finding T033 Finding 1 BXGD019540 LEFT VENTRICULAR NONCOMPACTION 9 C3808145 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019541 Abnormality of the optic disc C3808249 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 26 BXGD019542 Reduced forced vital capacity C3808250 phenotype Finding T033 Finding 10 BXGD019543 Acetabular spurs C3808270 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 5 BXGD019544 CATARACT 16, MULTIPLE TYPES C3808377 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019545 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 C3808397 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019546 Large fleshy ears C3808403 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 13 BXGD019547 PERRAULT SYNDROME 3 C3808414 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD019548 CHROMOSOME 2p16.3 DELETION SYNDROME C3808494 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019549 Poor respiratory effort C3808548 phenotype Finding T033 Finding 1 BXGD019550 Bone marrow failure syndrome 1 C3808553 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD019551 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7 C3808620 phenotype Finding DOID:630;DOID:7 genetic disease; disease of anatomical entity T033 Finding 3 BXGD019552 EPISODIC PAIN SYNDROME, FAMILIAL, 1 C3808667 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019553 Chronic hepatitis due to cryptosporidium infection C3808820 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T047 Disease or Syndrome 5 BXGD019554 Recurrent gastroenteritis C3808828 phenotype Finding HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T033 Finding 5 BXGD019555 ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 C3808874 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD019556 PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING C3808876 disease Neoplastic Process T191 Neoplastic Process 1 BXGD019557 Short neck (in some patients) C3808883 phenotype Finding T033 Finding 1 BXGD019558 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 C3808899 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD019559 SCHIZOPHRENIA 18 C3808913 disease Mental or Behavioral Dysfunction DOID:630;DOID:150 genetic disease; disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD019560 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 C3808920 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019561 NEPHROTIC SYNDROME, TYPE 8 C3808953 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019562 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 C3808977 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD019563 HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA C3808981 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019564 HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA C3808986 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD019565 FANCONI ANEMIA, COMPLEMENTATION GROUP Q C3808988 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD019566 NGLY1 deficiency C3808991 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD019567 CARDIOFACIOCUTANEOUS SYNDROME 2 C3809005 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD019568 CARDIOFACIOCUTANEOUS SYNDROME 3 C3809006 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD019569 CARDIOFACIOCUTANEOUS SYNDROME 4 C3809007 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD019570 HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY C3809008 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019571 MYOFIBROMATOSIS, INFANTILE, 2 C3809084 disease Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 2 BXGD019572 SYMPHALANGISM, PROXIMAL, 1B C3809104 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD019573 PERRAULT SYNDROME 4 C3809105 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD019574 DOWLING-DEGOS DISEASE 2 C3809147 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019575 PULMONARY HYPERTENSION, PRIMARY, 4 C3809198 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019576 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 C3809221 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD019577 NOONAN SYNDROME 8 C3809233 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 2 BXGD019578 ESTROGEN RESISTANCE C3809250 disease Disease or Syndrome T047 Disease or Syndrome 30 BXGD019579 EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET C3809278 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD019580 CONE-ROD DYSTROPHY 18 C3809299 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019581 Foveal hyperpigmentation C3809301 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 3 BXGD019582 ATRIAL FIBRILLATION, FAMILIAL, 14 C3809312 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019583 NEPHRONOPHTHISIS 16 C3809320 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD019584 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 C3809394 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019585 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 C3809414 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD019586 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 C3809420 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD019587 MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE C3809431 disease Disease or Syndrome DOID:630;DOID:7;DOID:0080015 genetic disease; disease of anatomical entity; physical disorder T047 Disease or Syndrome 2 BXGD019588 RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 C3809434 disease Disease or Syndrome DOID:0080015 physical disorder T047 Disease or Syndrome 1 BXGD019589 MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE C3809443 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD019590 MYOPIA 22, AUTOSOMAL DOMINANT C3809464 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019591 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 C3809468 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 2 BXGD019592 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 C3809469 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD019593 MYOPIA 23, AUTOSOMAL RECESSIVE C3809482 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019594 AORTIC ANEURYSM, FAMILIAL THORACIC 8 C3809513 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019595 INFANTILE LIVER FAILURE SYNDROME 1 C3809522 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019596 MACULAR DEGENERATION, AGE-RELATED, 13 C3809523 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019597 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 C3809553 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD019598 IMMUNODEFICIENCY 12 C3809583 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019599 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 C3809606 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019600 PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES C3809609 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019601 INFANTILE LIVER FAILURE SYNDROME 2 C3809651 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019602 MACULAR DEGENERATION, AGE-RELATED, 14 C3809653 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD019603 SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE C3809665 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019604 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 C3809672 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD019605 MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 C3809686 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD019606 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5 C3809710 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD019607 Spontaneous, recurrent epistaxis C3809715 phenotype C23;C08;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Sign or Symptom HP:0001871;HP:0000152 Abnormality of blood and blood-forming tissues; Abnormality of head or neck T184 Sign or Symptom 11 BXGD019608 Severe dermatitis, multiple allergies, metabolic wasting syndrome C3809719 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD019609 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 C3809753 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD019610 IMMUNODEFICIENCY 13 C3809768 disease Disease or Syndrome T047 Disease or Syndrome 22 BXGD019611 Recurrent shingles C3809776 phenotype Finding T033 Finding 1 BXGD019612 Cole disease C3809781 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019613 MICROPHTHALMIA, SYNDROMIC 12 C3809803 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019614 Staring gaze C3809827 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 16 BXGD019615 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 C3809853 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD019616 LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3 C3809874 disease Neoplastic Process T191 Neoplastic Process 7 BXGD019617 Prader-Willi-like syndrome C3809877 disease C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD019618 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII C3809882 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019619 EPISODIC PAIN SYNDROME, FAMILIAL, 2 C3809893 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019620 EPISODIC PAIN SYNDROME, FAMILIAL, 3 C3809899 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 1 BXGD019621 MULTIPLE FIBROADENOMAS OF THE BREAST C3809918 disease Neoplastic Process T191 Neoplastic Process 1 BXGD019622 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III C3809928 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019623 COMPLEMENT FACTOR B DEFICIENCY C3809950 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019624 RETINITIS PIGMENTOSA 67 C3809954 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019625 NEPHROTIC SYNDROME, TYPE 9 C3809965 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019626 ASPARAGINE SYNTHETASE DEFICIENCY C3809971 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019627 IMMUNODEFICIENCY, COMMON VARIABLE, 10 C3809991 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD019628 RIENHOFF SYNDROME C3810012 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD019629 Bilateral coxa valga C3810018 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 7 BXGD019630 VERHEIJ SYNDROME C3810023 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019631 ALZHEIMER DISEASE 18 C3810041 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD019632 MACULAR DEGENERATION, AGE-RELATED, 15 C3810042 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019633 IMMUNODEFICIENCY 16 C3810053 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019634 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 C3810055 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD019635 Congenital disorder of glycosylation type 1w C3810062 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD019636 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 C3810080 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD019637 MEMORY QUANTITATIVE TRAIT LOCUS C3810089 phenotype Finding T033 Finding 2 BXGD019638 L-FERRITIN DEFICIENCY C3810090 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019639 IMMUNODEFICIENCY 18 C3810127 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019640 IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT C3810128 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019641 IMMUNODEFICIENCY 18, SCID VARIANT C3810129 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019642 JOUBERT SYNDROME 21 C3810212 disease Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 3 BXGD019643 Elongated superior cerebellar peduncle C3810214 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 7 BXGD019644 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 C3810225 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD019645 WARBURG MICRO SYNDROME 4 C3810265 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD019646 MYOPATHY WITH EXTRAPYRAMIDAL SIGNS C3810285 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019647 DOWLING-DEGOS DISEASE 4 C3810313 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019648 IMMUNODEFICIENCY 20 C3810342 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019649 SACRAL AGENESIS WITH VERTEBRAL ANOMALIES C3810343 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019650 ALZHEIMER DISEASE 19 C3810349 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019651 Bone marrow failure syndrome 2 C3810350 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD019652 Central visual impairment C3810365 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 158 BXGD019653 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 C3810400 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019654 ECULIZUMAB, POOR RESPONSE TO C3810402 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019655 MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA C3810403 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019656 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO C3810404 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019657 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 C3810407 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019658 Intercrural pterygium C3810471 phenotype C11 Eye Diseases Finding HP:0001574;HP:0000924 Abnormality of the integument; Abnormality of the skeletal system T033 Finding 2 BXGD019659 Occasional neurofibromas C3810474 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process HP:0001574;HP:0000707;HP:0002664 Abnormality of the integument; Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 1 BXGD019660 MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO C3810481 phenotype Finding T033 Finding 1 BXGD019661 Increased urinary hypoxanthine C3810487 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 2 BXGD019662 Experimental Organism Basal Cell Carcinoma C3811653 phenotype C04 Neoplasms Neoplastic Process T191 Neoplastic Process 437 BXGD019663 SUCLA2 C3811915 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD019664 GRN-related frontotemporal dementia C3811918 disease C18;C10;F03 Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 112 BXGD019665 Chronic idiopathic pulmonary fibrosis C3812396 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD019666 Endometrioid intraepithelial neoplasia C3812874 disease Neoplastic Process T191 Neoplastic Process 6 BXGD019667 Papillary carcinoma of the breast C3812899 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD019668 Skin Vesicle C3814530 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 20 BXGD019669 Low grade central osteosarcoma C3814534 disease Neoplastic Process T191 Neoplastic Process 2 BXGD019670 Sudden Unexplained Infant Death C3814825 disease C23;C13 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 1 BXGD019671 Phosphaturic mesenchymal tumor, benign C3814879 disease Neoplastic Process T191 Neoplastic Process 3 BXGD019672 Interleukin 1 Beta Measurement C3815172 phenotype Laboratory Procedure T059 Laboratory Procedure 11 BXGD019673 response to cyclophosphamide C3822553 phenotype Cell Function T043 Cell Function 1 BXGD019674 response to epirubicin C3822559 phenotype Cell Function T043 Cell Function 1 BXGD019675 Harmful use of ketamine C3824685 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD019676 Flaviviral diseases C3824759 group Disease or Syndrome T047 Disease or Syndrome 1 BXGD019677 Lymphomas in children C3824769 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD019678 Obesity in animals C3824872 disease C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD019679 Mycoplasma pneumoniae Infection C3824874 group C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD019680 Chlamydophila pneumoniae infections C3824881 group Disease or Syndrome T047 Disease or Syndrome 1 BXGD019681 Arthritis in animals C3824909 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019682 Hypertension in old age C3825107 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019683 Learning disabled C3825158 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD019684 Mitochondrial pathology C3825201 phenotype Disease or Syndrome T047 Disease or Syndrome 20 BXGD019685 Brucellosis in animals C3825221 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD019686 Diabetes in old age C3825246 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019687 Cataract in old age C3825253 phenotype Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD019688 Stereotyped behavior (Psychiatry) C3825276 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD019689 Headache in children C3825293 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD019690 Congenital heart disease in children C3825297 disease Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 3 BXGD019691 Cystic fibrosis in children C3825312 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019692 Diabetes in adolescence C3825343 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019693 Protozoan diseases C3825353 group Disease or Syndrome T047 Disease or Syndrome 1 BXGD019694 Hodgkin's disease in children C3825373 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019695 Pain in children C3825414 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 12 BXGD019696 Depression in old age C3825452 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD019697 Diabetes in youth C3825462 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD019698 Vesico-ureteral reflux in children C3825547 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019699 Tuberculosis in children C3825570 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD019700 Thromboembolism in children C3825592 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019701 Rheumatic fever in children C3825715 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019702 Retina--Diseases C3825718 group Disease or Syndrome T047 Disease or Syndrome 1 BXGD019703 Respiratory allergy C3825727 phenotype Pathologic Function T046 Pathologic Function 1 BXGD019704 Pneumonia in children C3825816 disease Disease or Syndrome T047 Disease or Syndrome 15 BXGD019705 Pediatric respiratory diseases C3825858 group Disease or Syndrome T047 Disease or Syndrome 2 BXGD019706 Otitis media in children C3825879 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD019707 Nephrotic syndrome in children C3825926 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD019708 Multiple sclerosis in children C3825939 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019709 Meningitis in children C3825986 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD019710 Lymphoblastic leukemia in children C3826044 disease Neoplastic Process T191 Neoplastic Process 19 BXGD019711 Leprosy in children C3826068 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019712 Iron deficiency anemia in children C3826102 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD019713 Infection in children C3826128 disease Disease or Syndrome T047 Disease or Syndrome 29 BXGD019714 Hypothyroidism in children C3826150 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD019715 Hypertension in children C3826157 disease Disease or Syndrome T047 Disease or Syndrome 12 BXGD019716 Hepatitis in children C3826217 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD019717 Hearing impaired children C3826233 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD019718 Head--Tumors C3826237 disease Neoplastic Process T191 Neoplastic Process 3 BXGD019719 Gastroenteritis in children C3826291 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019720 Food allergy in children C3826320 phenotype Disease or Syndrome T047 Disease or Syndrome 1 BXGD019721 Epilepsy in children C3826394 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD019722 Neural tube--Abnormalities C3826424 disease Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD019723 Diarrhea in children C3826452 phenotype Sign or Symptom T184 Sign or Symptom 6 BXGD019724 Diabetes in children C3826457 disease Disease or Syndrome T047 Disease or Syndrome 22 BXGD019725 Depression in children C3826462 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 8 BXGD019726 Dental caries in children C3826476 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD019727 Chest--Tumors C3826590 disease Neoplastic Process T191 Neoplastic Process 1 BXGD019728 Chest--Diseases C3826591 group Disease or Syndrome T047 Disease or Syndrome 1 BXGD019729 Celiac disease in children C3826604 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD019730 Cardiac arrest in children C3826614 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD019731 Bronchitis in children C3826634 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD019732 Anemia in children C3826743 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD019733 AIDS (Disease) C3826758 disease Disease or Syndrome T047 Disease or Syndrome 24 BXGD019734 Abdominal pain in children C3826804 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD019735 Juvenile polymyositis C3826988 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019736 Classical Glioblastoma C3827253 disease Neoplastic Process T191 Neoplastic Process 6 BXGD019737 Sudden Unexplained Death in Childhood C3827273 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019738 Umbilical cord occlusion C3827733 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019739 Transient hypothyroxinaemia of prematurity C3827793 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD019740 Radiation Damage C3828416 disease C26 Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 44 BXGD019741 Proneural Glioblastoma C3828464 disease Neoplastic Process T191 Neoplastic Process 7 BXGD019742 Primary hypoparathyroidism C3828476 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019743 Pre-Gestational Diabetes C3828492 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD019744 Platelet Component Distribution Width Measurement C3828530 phenotype Laboratory Procedure T059 Laboratory Procedure 134 BXGD019745 Neural Glioblastoma C3828832 disease Neoplastic Process T191 Neoplastic Process 1 BXGD019746 Mesenchymal Glioblastoma C3829122 disease Neoplastic Process T191 Neoplastic Process 21 BXGD019747 Masaoka-Koga Stage IVa C3829184 disease Neoplastic Process T191 Neoplastic Process 1 BXGD019748 Masaoka-Koga Stage III C3829185 disease Neoplastic Process T191 Neoplastic Process 1 BXGD019749 Intrapartum fever C3829514 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0001939;HP:0001197 Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth T184 Sign or Symptom 3 BXGD019750 ECOG Performance Status 1 C3830345 phenotype Finding T033 Finding 5 BXGD019751 Early Pregnancy Loss C3830362 phenotype C13 Female Urogenital Diseases and Pregnancy Complications Finding T033 Finding 109 BXGD019752 Disseminated Bacillus Calmette-Guerin infection C3830467 disease C01 Infections Disease or Syndrome HP:0002715 Abnormality of the immune system T047 Disease or Syndrome 5 BXGD019753 Diabetic embryopathy C3830518 disease C16;C13 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 9 BXGD019754 Clinical Chorioamnionitis C3831078 disease C16;C13 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 8 BXGD019755 Acute monocytic/monoblastic leukemia C3831784 C93.00 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 35 BXGD019756 Diabetes Mellitus, Ketosis-Prone C3837958 E10 disease C18;C20;C19 Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 57 BXGD019757 BASAL CELL CARCINOMA, SOMATIC C3838465 disease Neoplastic Process T191 Neoplastic Process 5 BXGD019758 Simple Virilizing 21-Hydroxylase Deficiency C3838669 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019759 Serous intraepithelial carcinoma C3838709 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD019760 Familial hyperaldosteronism type 1 C3838731 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD019761 Congenital leptin deficiency C3838754 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 3 BXGD019762 Familial hyperaldosteronism type 3 C3838758 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019763 Bilateral cerebral palsy C3838784 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD019764 Tubulolobular carcinoma C3838879 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD019765 Microcystic stromal tumor C3838965 disease Neoplastic Process T191 Neoplastic Process 8 BXGD019766 Compensated liver disease C3839044 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD019767 Severe dry skin C3839047 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD019768 Phosphaturic mesenchymal tumor, malignant C3839061 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD019769 Perivascular epithelioid tumor, malignant C3839062 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD019770 Low grade serous carcinoma C3839184 disease Neoplastic Process T191 Neoplastic Process 11 BXGD019771 Signet-ring stromal tumor C3839205 disease Neoplastic Process T191 Neoplastic Process 2 BXGD019772 High grade serous carcinoma C3839280 disease Neoplastic Process T191 Neoplastic Process 118 BXGD019773 Nonprogressive C3839460 phenotype Finding T033 Finding 24 BXGD019774 Diminished ovarian reserve C3839507 disease C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 43 BXGD019775 Anemia in malignant neoplastic disease C3839524 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD019776 Secondary osteoporosis C3839589 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD019777 Postpartum gestational diabetes mellitus C3839604 disease C18;C13;C19 Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019778 Complex craniosynostosis C3839609 disease Congenital Abnormality T019 Congenital Abnormality 2 BXGD019779 Seromucinous borderline tumor C3839681 disease Neoplastic Process T191 Neoplastic Process 1 BXGD019780 Sensitization (disorder) C3839736 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 9 BXGD019781 High astigmatism C3839737 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019782 Core binding factor acute myeloid leukemia C3839741 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 18 BXGD019783 Uterine tumor resembling ovarian sex cord tumor C3839747 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD019784 Abnormality of nail of toe C3839753 phenotype C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 26 BXGD019785 Pleomorphic hyalinizing angiectatic tumor C3839767 disease Neoplastic Process T191 Neoplastic Process 3 BXGD019786 DICER1 syndrome C3839822 disease Neoplastic Process T191 Neoplastic Process 2 BXGD019787 Chronic ankle pain C3839854 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD019788 Cytogenetically normal acute myeloid leukemia C3839868 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 91 BXGD019789 Hereditary cystatin C amyloid angiopathy C3839957 disease C18;C10;C14 Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD019790 Small cell carcinoma, hypercalcemic type C3839982 disease Neoplastic Process T191 Neoplastic Process 1 BXGD019791 Congenital stenosis of nasal pyriform aperture C3839990 disease C08;C09 Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 1 BXGD019792 Dysexecutive syndrome C3840049 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD019793 Late closure of anterior fontanel C3840083 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 21 BXGD019794 Disorder of Achilles tendon C3840085 disease Disease or Syndrome T047 Disease or Syndrome 33 BXGD019795 High-functioning autism C3840214 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 15 BXGD019796 Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma C3840252 disease Neoplastic Process T191 Neoplastic Process 12 BXGD019797 Autoimmune thyroid disease (AITD) C3840565 disease Disease or Syndrome T047 Disease or Syndrome 133 BXGD019798 Hb H disease C3841459 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD019799 Hb E beta zero thalassemia C3841469 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019800 beta^+^ Thalassemia C3841475 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 156 BXGD019801 Adult only C3842001 phenotype Finding T033 Finding 6 BXGD019802 Mucinous (colloid) adenocarcinoma C3842353 disease Neoplastic Process T191 Neoplastic Process 2 BXGD019803 Squamous cell (epidermoid) carcinoma C3843745 disease Neoplastic Process T191 Neoplastic Process 1 BXGD019804 Asthma, doctor diagnosed C3843752 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD019805 Gastric or duodenal ulcer C3843755 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019806 Ulcerative colitis or Crohn's C3843756 disease Disease or Syndrome T047 Disease or Syndrome 15 BXGD019807 Oval fat body C3844293 phenotype Anatomical Abnormality T190 Anatomical Abnormality 7 BXGD019808 Hb E beta-thalassemia C3844575 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD019809 Myocardial infarction, stroke C3845502 disease Disease or Syndrome T047 Disease or Syndrome 46 BXGD019810 Acute-On-Chronic Liver Failure C3850141 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 140 BXGD019811 Vascular Remodeling C3850148 phenotype C23 Pathological Conditions, Signs and Symptoms Organ or Tissue Function T042 Organ or Tissue Function 3 BXGD019812 Ovarian Reserve C3850153 phenotype Organ or Tissue Function T042 Organ or Tissue Function 2 BXGD019813 Congenital Microtia C3850155 disease C16;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD019814 Pulmonary Arterial Remodeling C3852953 phenotype C23 Pathological Conditions, Signs and Symptoms Organ or Tissue Function T042 Organ or Tissue Function 3 BXGD019815 Acute Mesenteric Arterial Embolus C3852984 disease C06;C14 Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019816 Occlusive Mesenteric Arterial Ischemia C3852985 disease C06;C14 Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019817 Nonocclusive Mesenteric Ischemia C3852986 disease C06;C14 Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD019818 Acute Mesenteric Arterial Thrombosis C3852987 disease C06;C14 Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019819 Severe Congenital Microcephaly C3853041 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 35 BXGD019820 Aspirin exacerbated respiratory disease C3853540 disease C23;C01;C08;C20;C25;C09 Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 94 BXGD019821 Pdgfra-Associated Chronic Eosinophilic Leukemia C3853548 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019822 Neonatal Alloimmune Thrombocytopenia C3853779 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 29 BXGD019823 Enterovirus 71 infection C3853962 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 21 BXGD019824 Pre-renal acute kidney injury C3854173 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 67 BXGD019825 Nevus sebaceous C3854181 disease C04 Neoplasms Neoplastic Process HP:0001574 Abnormality of the integument DOID:7;DOID:225 disease of anatomical entity; syndrome T191 Neoplastic Process 9 BXGD019826 Human immunodeficiency virus (HIV) II infection category B1 C3854222 disease Disease or Syndrome T047 Disease or Syndrome 985 BXGD019827 Primary mucoepidermoid carcinoma of lung C3854329 disease Neoplastic Process T191 Neoplastic Process 1 BXGD019828 Narrowing C3854333 disease Anatomical Abnormality T190 Anatomical Abnormality 8 BXGD019829 Morvan syndrome C3854373 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD019830 Hyperferritinaemia C3854388 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 26 BXGD019831 Subperiosteal abscess C3854418 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019832 Autoresuscitation C3854420 phenotype Sign or Symptom T184 Sign or Symptom 4 BXGD019833 Root canal infection C3854422 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019834 Bone marrow infiltration C3854434 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 36 BXGD019835 Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids C3854437 disease C01;C20;C10 Infections; Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD019836 Rapidly progressive osteoarthritis C3854438 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019837 Atrio-oesophageal fistula C3854460 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019838 Neonatal testicular torsion C3854501 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019839 FNAITP C3854603 disease Disease or Syndrome T047 Disease or Syndrome 12 BXGD019840 Anticipatory nausea C3854611 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD019841 Tendon thickening C3854629 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD019842 Hereditary angioedema attack C3854637 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019843 Osteoblastic bone metastases C3854652 disease Neoplastic Process T191 Neoplastic Process 3 BXGD019844 Autoinflammatory disorder C3860213 disease Disease or Syndrome T047 Disease or Syndrome 60 BXGD019845 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO C3862275 phenotype Finding T033 Finding 5 BXGD019846 enterovirus d68 infection C3863587 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019847 Bilateral carpal tunnel syndrome C3864035 disease C10;C26 Nervous System Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 1 BXGD019848 Acute vascular graft rejection C3872560 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD019849 Chronic active hepatitis C C3872662 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 18 BXGD019850 Congenital pulmonary acinar dysplasia C3872820 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019851 Idiopathic eosinophilic pneumonia C3872845 disease C01;C08;C15 Infections; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019852 Secondary pulmonary alveolar proteinosis C3873302 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019853 Primary adenocarcinoma of lung C3873341 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD019854 Langerhans cell histiocytosis of skin C3873361 disease C04;C17;C08;C15 Neoplasms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD019855 Acute pulmonary thromboembolism C3873363 disease C08;C14 Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 15 BXGD019856 Recurrent proliferative glomerulonephritis C3873417 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019857 Reticular oral lichen planus C3873477 disease C17;C07 Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019858 Chronic ulcerative stomatitis C3873482 disease C01;C07 Infections; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD019859 Invasive meningococcal disease C3873491 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 9 BXGD019860 Severe acute respiratory infection C3873497 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019861 Phagocytic immunodeficiency C3873531 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019862 Mycobacterial lymphadenitis C3873533 disease C01;C15 Infections; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019863 Peripheral neuropathy due to and following chemotherapy C3873567 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 72 BXGD019864 Skeletal malocclusion C3874346 disease C07 Stomatognathic Diseases Anatomical Abnormality T190 Anatomical Abnormality 5 BXGD019865 Childhood nephrotic syndrome C3874381 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 23 BXGD019866 Human metapneumovirus infection C3874414 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 9 BXGD019867 Gastroduodenal disorder C3874418 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019868 Exudative edema C3874835 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019869 Nodular thyroid disease C3875007 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD019870 Familial hyperalphalipoproteinemia C3875011 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD019871 Partial nephrogenic diabetes insipidus C3875046 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019872 Anterior pituitary hormone deficiency C3875161 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019873 Febrile urinary tract infection C3875265 disease C13;C01;C12 Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD019874 Inflammatory dermatosis C3875321 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T047 Disease or Syndrome 382 BXGD019875 Hypocalciuric hypercalcemia C3875492 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD019876 Head and Neck Carcinoma C3887461 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 786 BXGD019877 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 C3887485 phenotype Finding DOID:7 disease of anatomical entity T033 Finding 20 BXGD019878 Postaxial polydactyly type A C3887487 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system DOID:0080015 physical disorder T047 Disease or Syndrome 20 BXGD019879 Clubbing of toes C3887489 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 30 BXGD019880 Exudative pleural effusion C3887491 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0001939;HP:0002086 Abnormality of metabolism/homeostasis; Abnormality of the respiratory system T047 Disease or Syndrome 1 BXGD019881 ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE C3887494 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 25 BXGD019882 Oligodactyly C3887496 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 20 BXGD019883 Bifid ureter C3887498 disease Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 4 BXGD019884 Renal cyst C3887499 phenotype C23;C04;C13;C12 Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system DOID:7 disease of anatomical entity T047 Disease or Syndrome 170 BXGD019885 Neonatal Listeriosis C3887503 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD019886 Hyperkinesia C3887506 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 80 BXGD019887 Avascular necrosis C3887513 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function T046 Pathologic Function 41 BXGD019888 Chromophobe carcinoma C3887514 disease Neoplastic Process T191 Neoplastic Process 7 BXGD019889 Adult Myxopapillary Ependymoma C3887518 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD019890 Childhood Pineoblastoma C3887520 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 13 BXGD019891 Very long chain acyl-CoA dehydrogenase deficiency C3887523 disease C16;C18;C05;C10;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 15 BXGD019892 Skin Erosion C3887524 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 225 BXGD019893 Keratosis Follicularis Spinulosa Decalvans, X-Linked C3887525 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality T047;T019 Disease or Syndrome; Congenital Abnormality 2 BXGD019894 Fused cervical vertebrae C3887527 disease Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 15 BXGD019895 Keratoglobus C3887531 disease Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 9 BXGD019896 Central sleep apnea syndrome C3887547 disease C23;C08;C10;F03 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 11 BXGD019897 Central Apnea C3887548 disease C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system T047 Disease or Syndrome 8 BXGD019898 Memory dysfunction C3887551 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 70 BXGD019899 Hemophagocytic Syndrome C3887558 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 25 BXGD019900 Stricture of ureter C3887590 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality T190 Anatomical Abnormality 12 BXGD019901 Acquired trigger finger C3887597 disease C05 Musculoskeletal Diseases Acquired Abnormality T020 Acquired Abnormality 1 BXGD019902 Nightmare Disorder C3887605 F51.5 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD019903 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1 C3887608 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD019904 Restlessness C3887611 phenotype F01 Behavior and Behavior Mechanisms Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 9 BXGD019905 Psychomotor Agitation C3887612 phenotype C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding T033 Finding 26 BXGD019906 Failure to thrive in infant C3887638 R62.51 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 81 BXGD019907 Autoimmune gastritis C3887639 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 28 BXGD019908 Astrocytosis C3887640 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 37 BXGD019909 Recurrent hepatitis C3887641 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 35 BXGD019910 Job Syndrome C3887645 D82.4 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 35 BXGD019911 Adult Rickets C3887650 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 47 BXGD019912 POLYARTERITIS NODOSA, CHILDHOOD-ONSET C3887654 disease C17;C14 Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 63 BXGD019913 PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT C3887658 disease C08;C14 Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD019914 Intraspinal Neoplasm C3887662 disease C04;C05;C10 Neoplasms; Musculoskeletal Diseases; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 14 BXGD019915 Retrocollis C3887667 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707;HP:0000152;HP:0003011 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculature T047 Disease or Syndrome 3 BXGD019916 Infection by larvae of Trichinella spiralis C3887668 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 8 BXGD019917 Central Nervous System Embryonal Tumor, Not Otherwise Specified C3887678 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 13 BXGD019918 Optic Neuropathy C3887709 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 54 BXGD019919 Mountain Sickness C3887755 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD019920 Decreased urine output C3887784 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 1 BXGD019921 Basilar invagination C3887851 disease Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 3 BXGD019922 Hearing Loss C3887873 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding T033 Finding 18 BXGD019923 Visual field defects C3887875 H53.4 group C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 47 BXGD019924 Aortic Valve Disease 1 C3887892 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD019925 Primary Adrenal Insufficiency C3887896 disease Disease or Syndrome T047 Disease or Syndrome 27 BXGD019926 Infantile Spasm C3887898 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 93 BXGD019927 AERODIGESTIVE TRACT CANCER, SQUAMOUS CELL, ALCOHOL-RELATED, PROTECTION AGAINST C3887915 phenotype Finding DOID:150 disease of mental health T033 Finding 3 BXGD019928 CATARACT 32, MULTIPLE TYPES C3887926 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019929 Deuteranomaly C3887938 H53.53 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 92 BXGD019930 MENTAL RETARDATION, X-LINKED 41 C3887939 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD019931 GLAUCOMA 1, OPEN ANGLE, B C3887942 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD019932 Apparent mineralocorticoid excess C3887949 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 23 BXGD019933 MENTAL RETARDATION, X-LINKED 49 C3887959 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD019934 POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE C3887964 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD019935 RETINAL DYSPLASIA, PRIMARY C3887971 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD019936 GLYCOGEN CONTENT IN SKELETAL MUSCLE, INCREASED C3887972 phenotype Finding T033 Finding 1 BXGD019937 Protanomaly C3887980 H53.54 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye DOID:7 disease of anatomical entity T047 Disease or Syndrome 19 BXGD019938 HERMANSKY-PUDLAK SYNDROME 3 C3888001 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD019939 PULMONARY HYPERTENSION, PRIMARY, 2 C3888002 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD019940 HERMANSKY-PUDLAK SYNDROME 5 C3888004 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 6 BXGD019941 HERMANSKY-PUDLAK SYNDROME 6 C3888007 disease C16;C18;C11;C17;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD019942 Congenital Hyperinsulinism C3888018 disease C16;C06;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 62 BXGD019943 Cacosmia C3888024 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019944 HERMANSKY-PUDLAK SYNDROME 8 C3888026 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD019945 Nephrogenic Systemic Fibrosis C3888044 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD019946 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT C3888065 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 18 BXGD019947 SMITH-MCCORT DYSPLASIA 1 C3888088 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 62 BXGD019948 Early onset torsion dystonia C3888090 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 22 BXGD019949 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 C3888093 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD019950 Cataract, Autosomal Recessive Congenital 1 C3888098 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD019951 Autosomal dominant vitreoretinochoroidopathy C3888099 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD019952 Frontotemporal Dementia With Motor Neuron Disease C3888102 disease C18;C10;F03 Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 13 BXGD019953 Glomerulopathy with fibronectin deposits C3888104 disease C13;C12;C20 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD019954 LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO C3888153 phenotype Finding DOID:630;DOID:7 genetic disease; disease of anatomical entity T033 Finding 1 BXGD019955 MIXED LINEAGE LEUKEMIA C3888194 disease Neoplastic Process T191 Neoplastic Process 240 BXGD019956 IMPDH2 ENZYME ACTIVITY, VARIATION IN C3888196 phenotype Finding T033 Finding 1 BXGD019957 LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3 C3888197 phenotype Finding T033 Finding 1 BXGD019958 BESTROPHINOPATHY, AUTOSOMAL RECESSIVE C3888198 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 17 BXGD019959 ACTN3 DEFICIENCY C3888204 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD019960 PHOSPHOLIPASE A2, GROUP IVA, DEFICIENCY OF C3888207 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019961 SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE C3888209 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD019962 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 C3888239 disease Finding T033 Finding 12 BXGD019963 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT C3888307 disease C16;C18;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD019964 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT C3888308 disease C16;C18;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD019965 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT C3888309 disease C16;C18;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD019966 Sialidosis, type 2 C3888317 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD019967 Myopathy, familial idiopathic inflammatory C3888318 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD019968 Cataract, Punctate, Progressive Juvenile-Onset C3888390 disease C11 Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD019969 Nonnuclear polymorphic congenital cataract C3888391 disease Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 71 BXGD019970 CATARACT 5, MULTIPLE TYPES C3888417 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD019971 Dry age-related macular degeneration C3888461 H35.31 phenotype Anatomical Abnormality T190 Anatomical Abnormality 11 BXGD019972 Traumatic ulcerative granuloma with stromal eosinophilia C3888498 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019973 HER-2 protein overexpression C3888504 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD019974 LDLR mutation C3888506 disease Congenital Abnormality T019 Congenital Abnormality 10 BXGD019975 CYP2C9 polymorphism C3888513 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD019976 Autoimmune demyelinating disease C3888521 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD019977 Autoimmune uveitis C3888523 disease Disease or Syndrome T047 Disease or Syndrome 31 BXGD019978 Gastrointestinal wall thickening C3888534 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD019979 Autoimmune colitis C3888552 disease Disease or Syndrome T047 Disease or Syndrome 12 BXGD019980 UGT1A1 gene polymorphism C3888554 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019981 Degenerative mitral valve disease C3888570 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD019982 Malignant Bowel Obstruction C3888580 phenotype C06 Digestive System Diseases Anatomical Abnormality T190 Anatomical Abnormality 6 BXGD019983 Monogenic diabetes C3888631 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 30 BXGD019984 Minimal hepatic encephalopathy C3888788 disease Disease or Syndrome T047 Disease or Syndrome 31 BXGD019985 Pancreatic toxicity C3888789 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD019986 Intestinal angioedema C3888796 disease C17;C20;C14 Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD019987 Hyperosmolar Hyperglycemic State C3888846 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD019988 Fistulising Crohn's disease C3888864 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD019989 Polyuria-polydipsia syndrome C3888890 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD019990 Wet age-related macular degeneration C3888896 H35.32 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 20 BXGD019991 BAFF polymorphism C3888909 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019992 CYP2C19 poor metaboliser status C3888911 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019993 Glycogen storage disease due to acid maltase deficiency, infantile onset C3888924 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD019994 Pompe's disease adult onset C3888925 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD019995 Autoimmune crescentic glomerulonephritis C3888946 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD019996 POLG mutation C3888962 disease Congenital Abnormality T019 Congenital Abnormality 3 BXGD019997 Embolic stroke of undetermined source C3888970 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD019998 Macular detachment C3888987 phenotype Anatomical Abnormality T190 Anatomical Abnormality 2 BXGD019999 Hypocortisolaemia C3888993 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020000 Non-radiographic axial spondyloarthritis C3889038 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD020001 Ascending aortic dilatation C3889085 phenotype Anatomical Abnormality T190 Anatomical Abnormality 7 BXGD020002 Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome C3889136 disease Disease or Syndrome T047 Disease or Syndrome 25 BXGD020003 Other License Status C3889261 phenotype Finding T033 Finding 4 BXGD020004 Benign Familial Convulsion C3889476 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD020005 BCHE, FLUORIDE 2 PHENOTYPE C3889588 phenotype Finding T033 Finding 1 BXGD020006 BCHE, J VARIANT PHENOTYPE C3889591 phenotype Finding T033 Finding 1 BXGD020007 BCHE, H VARIANT PHENOTYPE C3889592 phenotype Finding T033 Finding 1 BXGD020008 ALBUMIN BLENHEIM PHENOTYPE C3889611 phenotype Finding T033 Finding 1 BXGD020009 TRANSFERRIN VARIANT D1 PHENOTYPE C3889615 phenotype Finding T033 Finding 1 BXGD020010 TRANSFERRIN VARIANT B2 PHENOTYPE C3889617 phenotype Finding T033 Finding 1 BXGD020011 TRANSFERRIN VARIANT Bv PHENOTYPE C3889619 phenotype Finding T033 Finding 1 BXGD020012 HEMOGLOBIN SAINT ETIENNE PHENOTYPE C3889873 phenotype Finding T033 Finding 1 BXGD020013 APOLIPOPROTEIN C-II (PADOVA) PHENOTYPE C3889891 phenotype Finding T033 Finding 2 BXGD020014 HEMOGLOBIN C PHENOTYPE C3889898 phenotype Finding T033 Finding 1 BXGD020015 Periodic Fever Syndrome C3889979 M04.1 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 16 BXGD020016 PROTEIN S HEERLEN PHENOTYPE C3890030 phenotype Finding T033 Finding 1 BXGD020017 prothrombin type 3 phenotype C3890031 phenotype Finding T033 Finding 1 BXGD020018 MENTAL RETARDATION, X-LINKED 100 C3890167 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 3 BXGD020019 Psoriatic Juvenile Idiopathic Arthritis C3890176 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD020020 Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative C3890205 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 26 BXGD020021 P-Selectin Measurement C3890352 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD020022 Post-Treatment Lyme Disease Syndrome C3890422 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD020023 Liquid Tumor C3890429 disease Neoplastic Process T191 Neoplastic Process 22 BXGD020024 Bodily Pain C3890602 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 22 BXGD020025 Autoinflammatory Syndrome C3890737 M04 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 25 BXGD020026 FACTOR VIII (OKAYAMA) PHENOTYPE C3890932 phenotype Finding T033 Finding 1 BXGD020027 THYROXINE-BINDING GLOBULIN, VARIANT A PHENOTYPE C3890933 phenotype Finding T033 Finding 1 BXGD020028 THYROXINE-BINDING GLOBULIN, VARIANT P PHENOTYPE C3890934 phenotype Finding T033 Finding 1 BXGD020029 Acute Motor Axonal Neuropathy C3890941 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD020030 NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO C3891448 disease Finding T033 Finding 11 BXGD020031 CHROMOSOME Xq26.3 DUPLICATION SYNDROME C3891556 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 8 BXGD020032 HEMOGLOBIN TUBINGEN PHENOTYPE C3891694 phenotype Finding T033 Finding 1 BXGD020033 Growing Teratoma Syndrome C3891714 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD020034 Arthritis, Suppurative C3891815 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD020035 BARDET-BIEDL SYNDROME 5 C3892039 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD020036 Oligoarticular Arthritis C3892044 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 13 BXGD020037 response to ACE inhibitor C3893645 phenotype Organism Function T040 Organism Function 15 BXGD020038 response to simvastatin C3894553 phenotype Cell Function T043 Cell Function 21 BXGD020039 Familial Colorectal Cancer Type X C3896578 disease C16;C06;C04;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process T191 Neoplastic Process 14 BXGD020040 New Onset Diabetes After Transplant C3896643 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD020041 Familial Nonmedullary Thyroid Gland Carcinoma C3896673 disease Neoplastic Process T191 Neoplastic Process 31 BXGD020042 Childhood Pre-B Acute Lymphoblastic Leukemia C3896960 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 51 BXGD020043 Adult Pre-B Acute Lymphoblastic Leukemia C3896961 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 44 BXGD020044 Smoldering Systemic Mastocytosis C3897042 D47.02 disease C04;C20 Neoplasms; Immune System Diseases Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 4 BXGD020045 Short Stature Homeobox Deficiency C3897045 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 8 BXGD020046 Childhood Gliomatosis Cerebri C3897070 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 9 BXGD020047 BCLC Stage A Hepatocellular Carcinoma C3897124 disease Neoplastic Process T191 Neoplastic Process 2 BXGD020048 Soluble Interleukin 6 Receptor Measurement C3897558 phenotype Laboratory Procedure T059 Laboratory Procedure 17 BXGD020049 Refractory Childhood Hodgkin Lymphoma C3897729 disease Neoplastic Process T191 Neoplastic Process 14 BXGD020050 recurrent fallopian tube cancer C3897738 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process T191 Neoplastic Process 1 BXGD020051 recurrent childhood pleomorphic xanthoastrocytoma C3897744 disease Neoplastic Process T191 Neoplastic Process 1 BXGD020052 recurrent childhood pilocytic astrocytoma C3897746 disease Neoplastic Process T191 Neoplastic Process 1 BXGD020053 recurrent childhood oligodendroglioma C3897747 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD020054 Recurrent Childhood Glioblastoma C3897752 disease Neoplastic Process T191 Neoplastic Process 51 BXGD020055 Recurrent Childhood Anaplastic Astrocytoma C3897762 disease Neoplastic Process T191 Neoplastic Process 2 BXGD020056 Post-Hemorrhagic Hydrocephalus C3897877 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD020057 Persistent Oligoarticular Juvenile Idiopathic Arthritis C3897938 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD020058 Pathological Gynecomastia C3897980 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD020059 Oligoarticular Juvenile Idiopathic Arthritis C3898105 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 51 BXGD020060 Nonerosive Arthritis C3898123 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD020061 Non-Metastatic Childhood Soft Tissue Sarcoma C3898127 disease Neoplastic Process T191 Neoplastic Process 160 BXGD020062 New or Worsening Symptom C3898139 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD020063 Neurovascular Disorder C3898144 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD020064 Neonatal Hypoxic Ischemic Encephalopathy C3898147 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 26 BXGD020065 mucosal melanoma C3898222 disease Neoplastic Process T191 Neoplastic Process 24 BXGD020066 Mild Bronchopulmonary Dysplasia C3898352 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD020067 Malignant biliary obstruction C3898473 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD020068 Low Grade Astrocytic Tumor C3898569 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD020069 Loeys-Dietz Syndrome Type 2 C3898580 disease C16;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD020070 Localized Castleman Disease C3898582 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD020071 Intestinal-Type Sinonasal Adenocarcinoma C3898709 disease Neoplastic Process T191 Neoplastic Process 6 BXGD020072 Keratitis caused by infection C3898765 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD020073 hormone-resistant prostate cancer C3898877 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 16 BXGD020074 familial testicular germ cell tumor C3899154 disease C16;C04;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD020075 hereditary neuroblastoma C3899155 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process T191 Neoplastic Process 9 BXGD020076 Experimental Organism Benign Keratoacanthoma C3899234 disease Neoplastic Process T191 Neoplastic Process 1 BXGD020077 Encephalopathy of Prematurity C3899267 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020078 Early Rheumatoid Arthritis C3899278 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 83 BXGD020079 Early Inflammatory Arthritis C3899281 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD020080 Early Disseminated Lyme Disease C3899282 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD020081 Direct Extension C3899369 disease C23;C04 Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD020082 Decreased Concentration C3899403 phenotype Sign or Symptom T184 Sign or Symptom 27 BXGD020083 Decreased Attention C3899405 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD020084 Congenital hypogonadotropic hypogonadism C3899503 disease C16;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 23 BXGD020085 Childhood Undifferentiated Pleomorphic Sarcoma C3899638 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 27 BXGD020086 Childhood Thyroid Gland Carcinoma C3899640 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD020087 Childhood Pleomorphic Xanthoastrocytoma C3899645 disease Neoplastic Process T191 Neoplastic Process 42 BXGD020088 Childhood Pilomyxoid Astrocytoma C3899646 disease Neoplastic Process T191 Neoplastic Process 10 BXGD020089 Childhood Oligoastrocytoma C3899649 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 23 BXGD020090 Childhood Mixed Glioma C3899652 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD020091 Childhood Langerhans Cell Histiocytosis C3899655 disease C08;C15 Respiratory Tract Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 40 BXGD020092 Childhood Gliosarcoma C3899658 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 44 BXGD020093 Childhood Giant Cell Glioblastoma C3899659 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 13 BXGD020094 Childhood Gemistocytic Astrocytoma C3899660 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD020095 Childhood Fibrillary Astrocytoma C3899662 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD020096 Childhood Epithelioid Hemangioendothelioma C3899665 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 26 BXGD020097 Childhood Diffuse Astrocytoma C3899668 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 21 BXGD020098 Childhood Colorectal Carcinoma C3899669 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD020099 Childhood Anaplastic Oligoastrocytoma C3899676 disease Neoplastic Process T191 Neoplastic Process 7 BXGD020100 Calcineurin Nephrotoxicity C3899731 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD020101 CIC-DUX Sarcoma C3899764 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD020102 C4 Deficiency C3899844 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD020103 Amotivation C3900051 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD020104 Allograft Thrombosis C3900057 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020105 Adult Penile Carcinoma C3900097 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 37 BXGD020106 Adult Myelodysplastic Syndrome C3900098 disease C15 Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 332 BXGD020107 Adult Mixed Glioma C3900099 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD020108 Adult Langerhans Cell Histiocytosis C3900100 disease C08;C15 Respiratory Tract Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 40 BXGD020109 Adult Germ Cell Tumor C3900101 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 62 BXGD020110 Adult Epithelioid Hemangioendothelioma C3900104 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 26 BXGD020111 Acute motor sensory axonal neuropathy C3900111 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD020112 Acid-Labile Subunit Deficiency C3900122 disease Laboratory or Test Result T034 Laboratory or Test Result 2 BXGD020113 Abnormal eyebrow morphology C4011556 group Anatomical Abnormality HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T190 Anatomical Abnormality 29 BXGD020114 MYOPATHY, TUBULAR AGGREGATE, 1 C4011726 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD020115 Nevus, Keratinocytic, Nonepidermolytic C4011754 disease C04 Neoplasms Neoplastic Process DOID:7 disease of anatomical entity T191 Neoplastic Process 4 BXGD020116 Behavioral variant of frontotemporal dementia C4011788 disease C18;C10;F03 Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 35 BXGD020117 IMMUNODEFICIENCY 27A C4011949 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020118 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID C4012054 phenotype Finding T033 Finding 2 BXGD020119 DESBUQUOIS DYSPLASIA 1 C4012146 disease C23;C16;C05;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD020120 TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE C4012268 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020121 Enlarged ventricles (in some patients) C4012410 phenotype Finding T033 Finding 1 BXGD020122 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 C4012727 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD020123 Ataxia-Telangiectasisa-Like Disorder 1 C4012790 disease C16;C18;C20;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD020124 Mild global developmental delay C4012968 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 36 BXGD020125 BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES C4013035 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020126 Caused by mutation in the transportin 3 gene (TNPO3, 610032.0001) C4013182 phenotype Finding T033 Finding 1 BXGD020127 Neuroendocrine cervical carcinoma C4013425 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD020128 Bronchial carcinoid C4013426 disease Neoplastic Process T191 Neoplastic Process 7 BXGD020129 Underdeveloped tragus C4013429 disease Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 4 BXGD020130 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 C4013473 disease Finding DOID:7 disease of anatomical entity T033 Finding 2 BXGD020131 ATRIAL FIBRILLATION, FAMILIAL, 17 C4013560 disease Finding DOID:630;DOID:7 genetic disease; disease of anatomical entity T033 Finding 1 BXGD020132 Small cell carcinoma of the ovary, hypercalcemic type C4013716 phenotype C04 Neoplasms Finding T033 Finding 1 BXGD020133 IMMUNODEFICIENCY 28 C4013947 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020134 IMMUNODEFICIENCY 29 C4013948 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020135 IMMUNODEFICIENCY 30 C4013949 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD020136 IMMUNODEFICIENCY 31A C4013950 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020137 IMMUNODEFICIENCY 22 C4014233 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020138 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 C4014261 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD020139 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 C4014283 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD020140 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 C4014310 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020141 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 C4014343 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD020142 ABDOMINAL OBESITY-METABOLIC SYNDROME 3 C4014361 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 2 BXGD020143 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 C4014386 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD020144 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS C4014393 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020145 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4 C4014425 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD020146 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 C4014430 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD020147 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10 C4014476 disease Finding T033 Finding 1 BXGD020148 CULLER-JONES SYNDROME C4014479 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 2 BXGD020149 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 C4014531 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD020150 Tatton Brown Rahman syndrome C4014545 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 2 BXGD020151 PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS C4014553 phenotype Finding T033 Finding 1 BXGD020152 MYOPATHY, TUBULAR AGGREGATE, 2 C4014557 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD020153 LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE C4014588 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD020154 POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY C4014605 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD020155 IMMUNODEFICIENCY 24 C4014617 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020156 Abnormal mitochondrial morphology C4014650 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 13 BXGD020157 CARDIOMYOPATHY, DILATED, 1NN C4014656 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD020158 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 C4014668 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD020159 ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 C4014676 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020160 RETINITIS PIGMENTOSA 70 C4014681 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD020161 STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET C4014722 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD020162 Follicular hyperplasia C4014733 phenotype C15 Hemic and Lymphatic Diseases Finding HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system T033 Finding 11 BXGD020163 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 C4014738 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020164 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 C4014742 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020165 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 C4014745 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD020166 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 C4014795 disease Disease or Syndrome T047 Disease or Syndrome 82 BXGD020167 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 C4014803 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD020168 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES C4014833 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020169 IMMUNODEFICIENCY 27B C4014863 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020170 Renal abnormalities C4014891 phenotype Finding T033 Finding 1 BXGD020171 BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 C4014918 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020172 IMMUNODEFICIENCY 36 C4014934 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020173 CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA C4014942 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020174 FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG C4014962 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020175 ADAMS-OLIVER SYNDROME 5 C4014970 disease Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 1 BXGD020176 MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 C4014997 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020177 Decreased plasma free carnitine C4015009 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 2 BXGD020178 NEU-LAXOVA SYNDROME 2 C4015019 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD020179 MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC C4015038 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD020180 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 C4015062 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD020181 AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS C4015067 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD020182 MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE C4015080 disease Disease or Syndrome DOID:630;DOID:7;DOID:0080015 genetic disease; disease of anatomical entity; physical disorder T047 Disease or Syndrome 1 BXGD020183 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 C4015095 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD020184 Hypoglycosylation of alpha-dystroglycan C4015098 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 10 BXGD020185 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 C4015119 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD020186 MIRROR MOVEMENTS 3 C4015124 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD020187 INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 C4015130 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020188 Recurrent bronchiolitis C4015136 phenotype Finding HP:0002715;HP:0000152;HP:0002086 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the respiratory system T033 Finding 1 BXGD020189 MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE C4015156 disease Disease or Syndrome DOID:630;DOID:7;DOID:0080015 genetic disease; disease of anatomical entity; physical disorder T047 Disease or Syndrome 1 BXGD020190 SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY C4015172 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD020191 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 C4015184 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD020192 MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY C4015186 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020193 PALMOPLANTAR KERATODERMA AND WOOLLY HAIR C4015202 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD020194 Woolly scalp hair C4015203 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD020195 CTLA4 Haploinsufficiency C4015214 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD020196 RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME C4015242 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020197 CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY C4015285 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD020198 MACULAR DEGENERATION, EARLY-ONSET C4015286 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD020199 IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION C4015293 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020200 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 C4015316 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD020201 LEUKODYSTROPHY, HYPOMYELINATING, 9 C4015323 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD020202 PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER C4015344 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD020203 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 C4015388 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD020204 BLEEDING DISORDER, PLATELET-TYPE, 19 C4015405 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD020205 EPILEPSY, PROGRESSIVE MYOCLONIC 7 C4015420 disease C10 Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD020206 POLYGLUCOSAN BODY MYOPATHY 2 C4015452 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020207 RUIJS-AALFS SYNDROME C4015461 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD020208 Thoracic kyphoscoliosis C4015465 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 19 BXGD020209 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 C4015505 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD020210 AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA C4015512 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD020211 THROMBOCYTOPENIA 5 C4015537 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020212 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 C4015552 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD020213 AMELOGENESIS IMPERFECTA, TYPE IH C4015557 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD020214 Temple syndrome C4015558 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 10 BXGD020215 MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES C4015624 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020216 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T C4015635 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD020217 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 C4015643 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD020218 TENORIO SYNDROME C4015710 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020219 ALBUMIN B PHENOTYPE C4015752 phenotype Finding T033 Finding 1 BXGD020220 ANALBUMINEMIA BAGHDAD C4015776 phenotype Finding T033 Finding 1 BXGD020221 PROSTATE CANCER, SOMATIC C4015779 disease Neoplastic Process T191 Neoplastic Process 6 BXGD020222 ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES C4015780 disease Finding T033 Finding 1 BXGD020223 ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES C4015781 disease Finding T033 Finding 1 BXGD020224 ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS C4015782 disease Finding T033 Finding 1 BXGD020225 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT C4015785 phenotype Finding T033 Finding 1 BXGD020226 ANTICHYMOTRYPSIN BOCHUM 1 PHENOTYPE C4015793 phenotype Finding T033 Finding 1 BXGD020227 APOLIPOPROTEIN A-I (MILANO) PHENOTYPE C4015830 phenotype Finding T033 Finding 1 BXGD020228 APOLIPOPROTEIN A-I (MARBURG) PHENOTYPE C4015831 phenotype Finding T033 Finding 2 BXGD020229 APOLIPOPROTEIN A-I (MUNSTER4) PHENOTYPE C4015832 phenotype Finding T033 Finding 1 BXGD020230 APOLIPOPROTEIN A-I (GIESSEN) PHENOTYPE C4015833 phenotype Finding T033 Finding 1 BXGD020231 APOLIPOPROTEIN A-I (MUNSTER3C) PHENOTYPE C4015834 phenotype Finding T033 Finding 2 BXGD020232 APOLIPOPROTEIN A-I (MUNSTER3B) PHENOTYPE C4015835 phenotype Finding T033 Finding 2 BXGD020233 APOLIPOPROTEIN A-I (BALTIMORE) PHENOTYPE C4015839 phenotype Finding T033 Finding 2 BXGD020234 AMYLOIDOSIS, CARDIAC AND CUTANEOUS C4015843 disease Finding T033 Finding 2 BXGD020235 APOLIPOPROTEIN A-IV POLYMORPHISM, APOA4*1/APOA4*2 PHENOTYPE C4015844 phenotype Finding T033 Finding 1 BXGD020236 APOLIPOPROTEIN C-III, NONGLYCOSYLATED PHENOTYPE C4015848 phenotype Finding T033 Finding 1 BXGD020237 APOE2-DUNEDIN PHENOTYPE C4015869 phenotype Finding T033 Finding 1 BXGD020238 APOE3(-)-FREIBURG PHENOTYPE C4015877 phenotype Finding T033 Finding 1 BXGD020239 APOE4 VARIANT PHENOTYPE C4015878 phenotype Finding T033 Finding 1 BXGD020240 APOE2 VARIANT PHENOTYPE C4015880 phenotype Finding T033 Finding 1 BXGD020241 APOE4(+) PHENOTYPE C4015881 phenotype Finding T033 Finding 1 BXGD020242 RENAL TUBULAR ACIDOSIS, AUTOSOMAL DOMINANT C4015898 phenotype Finding T033 Finding 1 BXGD020243 SWANN BLOOD GROUP ANTIGEN PHENOTYPE C4015903 phenotype Finding T033 Finding 1 BXGD020244 ACANTHOCYTOSIS DUE TO BAND 3 HT C4015904 phenotype Finding T033 Finding 1 BXGD020245 AGAMMAGLOBULINEMIA 3 C4015923 phenotype Finding T033 Finding 1 BXGD020246 CARBONIC ANHYDRASE I, GUAM C4015931 phenotype Finding T033 Finding 1 BXGD020247 CARBONIC ANHYDRASE I DEFICIENCY C4015932 disease Finding T033 Finding 1 BXGD020248 OSTEOGENESIS IMPERFECTA, TYPE III/IV C4015948 disease Finding T033 Finding 1 BXGD020249 OSTEOGENESIS IMPERFECTA, TYPE IIC C4015949 disease Finding T033 Finding 1 BXGD020250 OSTEOGENESIS IMPERFECTA, TYPE I, MILD C4015950 phenotype Finding T033 Finding 1 BXGD020251 BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS C4015951 phenotype Finding T033 Finding 1 BXGD020252 ESOPHAGEAL CARCINOMA, SOMATIC C4015970 disease Neoplastic Process T191 Neoplastic Process 1 BXGD020253 MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO C4015971 phenotype Finding T033 Finding 1 BXGD020254 CATARACT 9, AUTOSOMAL RECESSIVE C4015984 disease Finding T033 Finding 1 BXGD020255 CATARACT 2, COPPOCK-LIKE C4015995 disease Finding T033 Finding 1 BXGD020256 PORPHYRIA, ACUTE HEPATIC, DIGENIC C4016013 disease Finding T033 Finding 1 BXGD020257 DNA Ligase I Deficiency C4016019 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD020258 DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT C4016020 phenotype Finding T033 Finding 2 BXGD020259 AUTONOMIC NERVOUS SYSTEM DYSFUNCTION C4016022 phenotype Finding T033 Finding 1 BXGD020260 ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE C4016037 phenotype Finding T033 Finding 1 BXGD020261 VENOUS THROMBOSIS, SUSCEPTIBILITY TO C4016042 phenotype Finding T033 Finding 1 BXGD020262 L-FERRITIN DEFICIENCY, AUTOSOMAL RECESSIVE C4016051 disease Finding T033 Finding 1 BXGD020263 MARFAN SYNDROME, SEVERE CLASSIC C4016052 disease Finding T033 Finding 1 BXGD020264 MARFAN SYNDROME, MILD VARIABLE C4016053 disease Finding T033 Finding 1 BXGD020265 Neonatal Marfan syndrome C4016054 disease C16;C17;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD020266 MARFAN SYNDROME, ATYPICAL C4016055 disease Finding T033 Finding 1 BXGD020267 MARFAN SYNDROME, MILD C4016056 disease Finding T033 Finding 1 BXGD020268 MARFAN SYNDROME, AUTOSOMAL RECESSIVE C4016059 disease Finding T033 Finding 1 BXGD020269 Fibrinogen dusart phenotype C4016070 phenotype Finding T033 Finding 1 BXGD020270 FIBRINOGEN MILANO XII, DIGENIC PHENOTYPE C4016097 disease Finding T033 Finding 1 BXGD020271 CANCER PROGRESSION AND TUMOR CELL MOTILITY C4016099 phenotype Finding T033 Finding 1 BXGD020272 FMO3 ACTIVITY, DECREASED C4016100 phenotype Finding T033 Finding 1 BXGD020273 HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA C4016104 disease Finding T033 Finding 1 BXGD020274 HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC C4016109 phenotype Finding T033 Finding 2 BXGD020275 ALCOHOLISM, SUSCEPTIBILITY TO C4016111 phenotype Finding T033 Finding 1 BXGD020276 GLUCOCORTICOID RESISTANCE, CELLULAR C4016112 phenotype Finding T033 Finding 1 BXGD020277 DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE-ONSET C4016117 disease Finding T033 Finding 1 BXGD020278 PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS C4016140 disease Finding T033 Finding 1 BXGD020279 ICHTHYOSIS HISTRIX, CURTH-MACKLIN TYPE C4016141 phenotype Finding T033 Finding 1 BXGD020280 VENTRICULAR TACHYCARDIA, SOMATIC C4016143 phenotype Finding T033 Finding 1 BXGD020281 MOYAMOYA 6 WITH ACHALASIA C4016144 phenotype Finding T033 Finding 1 BXGD020282 ALPHA-THALASSEMIA-2, NONDELETIONAL C4016148 disease Finding T033 Finding 1 BXGD020283 ALPHA-THALASSEMIA, HMONG TYPE C4016158 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020284 HEMOGLOBIN HOUSTON PHENOTYPE C4016175 phenotype Finding T033 Finding 1 BXGD020285 DELTA-ZERO-THALASSEMIA, KNOSSOS TYPE C4016178 disease Finding T033 Finding 1 BXGD020286 DELTA-PLUS-THALASSEMIA C4016190 disease Finding T033 Finding 1 BXGD020287 HIV-1 VIREMIA, SUSCEPTIBILITY TO C4016207 phenotype Finding T033 Finding 1 BXGD020288 BERYLLIUM DISEASE, CHRONIC, SUSCEPTIBILITY TO C4016208 phenotype Finding T033 Finding 1 BXGD020289 IgG RECEPTOR I, PHAGOCYTIC, FAMILIAL DEFICIENCY OF C4016211 phenotype Finding T033 Finding 2 BXGD020290 GASTRIC CANCER SUSCEPTIBILITY AFTER H. PYLORI INFECTION C4016230 phenotype Finding T033 Finding 1 BXGD020291 GLIOBLASTOMA MULTIFORME, SOMATIC C4016231 disease Finding T033 Finding 1 BXGD020292 ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC C4016234 phenotype Finding T033 Finding 1 BXGD020293 EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, WITH SEVERE PALMOPLANTAR KERATODERMA C4016235 disease Finding T033 Finding 1 BXGD020294 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SEVERE PALMOPLANTAR KERATOSIS C4016236 disease Finding T033 Finding 1 BXGD020295 HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL C4016241 disease Finding T033 Finding 1 BXGD020296 LONG QT SYNDROME, BRADYCARDIA-INDUCED C4016248 phenotype Finding T033 Finding 1 BXGD020297 SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN C4016260 phenotype Finding T033 Finding 1 BXGD020298 DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT C4016264 disease Finding T033 Finding 2 BXGD020299 HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA C4016274 disease Finding T033 Finding 1 BXGD020300 BREAST CANCER, SOMATIC C4016282 disease Neoplastic Process T191 Neoplastic Process 4 BXGD020301 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA C4016285 disease Neoplastic Process T191 Neoplastic Process 1 BXGD020302 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE C4016286 disease Neoplastic Process T191 Neoplastic Process 1 BXGD020303 PIEBALDISM WITH SENSORINEURAL DEAFNESS C4016294 disease Finding T033 Finding 1 BXGD020304 PIEBALDISM, PROGRESSIVE C4016297 disease Finding T033 Finding 1 BXGD020305 NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA C4016301 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD020306 AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO C4016314 phenotype Finding T033 Finding 3 BXGD020307 HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY C4016321 disease Finding T033 Finding 1 BXGD020308 TRANSCRIPTION OF PLASMINOGEN ACTIVATOR INHIBITOR, MODULATOR OF C4016325 phenotype Finding T033 Finding 1 BXGD020309 HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB C4016331 phenotype Finding T033 Finding 1 BXGD020310 MYOKYMIA 1 WITH HYPOMAGNESEMIA C4016334 disease Finding T033 Finding 1 BXGD020311 OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO C4016341 phenotype Finding T033 Finding 1 BXGD020312 DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II C4016343 phenotype Finding T033 Finding 1 BXGD020313 PFEIFFER SYNDROME VARIANT C4016344 phenotype Finding T033 Finding 1 BXGD020314 PFEIFFER SYNDROME, TYPE III C4016345 disease Finding T033 Finding 1 BXGD020315 CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL C4016346 disease Finding T033 Finding 1 BXGD020316 BREAST CANCER, SUSCEPTIBILITY TO, IN BRCA1 AND BRCA2 CARRIERS C4016360 phenotype Finding T033 Finding 1 BXGD020317 HYPERPRORENINEMIA, FAMILIAL C4016362 disease Finding T033 Finding 1 BXGD020318 RETINITIS PIGMENTOSA 4, AUTOSOMAL RECESSIVE C4016366 disease Finding T033 Finding 1 BXGD020319 CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE C4016368 disease Finding T033 Finding 1 BXGD020320 OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO C4016373 phenotype Finding T033 Finding 1 BXGD020321 ADRENOCORTICAL TUMOR, SOMATIC C4016392 disease Neoplastic Process T191 Neoplastic Process 2 BXGD020322 LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB C4016396 phenotype Finding T033 Finding 1 BXGD020323 COSTELLO SYNDROME, SEVERE C4016398 disease Finding T033 Finding 1 BXGD020324 LUNG CANCER, SOMATIC C4016400 disease Neoplastic Process T191 Neoplastic Process 3 BXGD020325 BLADDER CANCER, TRANSITIONAL CELL, SOMATIC C4016403 disease Neoplastic Process T191 Neoplastic Process 1 BXGD020326 COLON CANCER, ADVANCED, SOMATIC C4016406 disease Neoplastic Process T191 Neoplastic Process 1 BXGD020327 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1 C4016411 phenotype Finding T033 Finding 1 BXGD020328 TRIOSEPHOSPHATE ISOMERASE MANCHESTER C4016412 disease Finding T033 Finding 1 BXGD020329 AMYOTROPHIC LATERAL SCLEROSIS 22 WITH FRONTOTEMPORAL DEMENTIA C4016414 disease Finding T033 Finding 1 BXGD020330 TNF RECEPTOR BINDING, ALTERED C4016415 phenotype Finding T033 Finding 1 BXGD020331 HYPERLIPIDEMIA, FAMILIAL COMBINED, SUSCEPTIBILITY TO C4016424 phenotype Finding T033 Finding 2 BXGD020332 CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH QUADRUPEDAL LOCOMOTION 1 C4016431 disease Finding T033 Finding 1 BXGD020333 MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO C4016436 phenotype Finding T033 Finding 1 BXGD020334 GLUTARIC ACIDEMIA IIC, LATE-ONSET C4016438 disease Finding T033 Finding 1 BXGD020335 MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB C4016442 disease Finding T033 Finding 1 BXGD020336 GHOSAL HEMATODIAPHYSEAL SYNDROME C4016444 disease Finding T033 Finding 1 BXGD020337 NEPHROLITHIASIS, X-LINKED RECESSIVE C4016445 disease Finding T033 Finding 1 BXGD020338 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED C4016452 disease Finding T033 Finding 1 BXGD020339 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, SEVERE C4016457 disease Finding T033 Finding 1 BXGD020340 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL C4016464 disease Finding T033 Finding 1 BXGD020341 EXUDATIVE VITREORETINOPATHY, X-LINKED C4016494 disease Finding T033 Finding 1 BXGD020342 G6PD TOMAH PHENOTYPE C4016522 phenotype Finding T033 Finding 1 BXGD020343 RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH DEAFNESS C4016579 disease Finding T033 Finding 1 BXGD020344 ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER C4016581 disease Finding T033 Finding 1 BXGD020345 THYROXINE-BINDING GLOBULIN, SLOW C4016583 phenotype Finding T033 Finding 1 BXGD020346 THYROXINE-BINDING GLOBULIN, CHICAGO C4016587 phenotype Finding T033 Finding 1 BXGD020347 PARKINSONISM/MELAS OVERLAP SYNDROME C4016600 disease Finding T033 Finding 1 BXGD020348 SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC C4016601 disease Finding T033 Finding 1 BXGD020349 CYTOCHROME c OXIDASE I DEFICIENCY C4016602 disease Finding T033 Finding 1 BXGD020350 SEIZURES AND LACTIC ACIDOSIS C4016603 disease Finding T033 Finding 1 BXGD020351 Mitochondrial neurogastrointestinal encephalomyopathy syndrome C4016621 disease C23;C06;C18;C11;C05;C10 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD020352 TANGIER DISEASE, VARIANT C4016640 phenotype Finding T033 Finding 1 BXGD020353 METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT C4016643 disease Finding T033 Finding 1 BXGD020354 ATRIAL STANDSTILL 1, DIGENIC C4016652 disease Finding T033 Finding 1 BXGD020355 SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH SUSCEPTIBILITY TO, 2 C4016657 phenotype Finding T033 Finding 1 BXGD020356 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE C4016660 disease Finding T033 Finding 1 BXGD020357 ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY C4016662 disease Finding T033 Finding 1 BXGD020358 ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY C4016663 disease Finding T033 Finding 1 BXGD020359 PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF C4016672 disease Finding T033 Finding 1 BXGD020360 MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE C4016683 disease Finding T033 Finding 1 BXGD020361 MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT C4016684 disease Finding T033 Finding 1 BXGD020362 IMMUNODEFICIENCY 26 WITHOUT NEUROLOGIC ABNORMALITIES C4016698 disease Finding T033 Finding 1 BXGD020363 INSULIN RESISTANCE, SEVERE, DIGENIC C4016701 phenotype Finding T033 Finding 2 BXGD020364 EPISODIC ATAXIA, TYPE 2, AND EPILEPSY C4016713 disease Finding T033 Finding 1 BXGD020365 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, AUTOSOMAL RECESSIVE C4016716 phenotype Finding T033 Finding 1 BXGD020366 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, WITH FOCALLY FOLDED MYELIN SHEATHS C4016717 disease Finding T033 Finding 1 BXGD020367 DIABETES MELLITUS, NONINSULIN-DEPENDENT, MODIFIER OF C4016735 phenotype Finding T033 Finding 1 BXGD020368 FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE C4016746 disease Finding T033 Finding 1 BXGD020369 SPINAL MUSCULAR ATROPHY, MODIFIER OF C4016747 phenotype Finding T033 Finding 1 BXGD020370 GLAUCOMA 1, OPEN ANGLE, A, DIGENIC C4016750 disease Finding T033 Finding 2 BXGD020371 ASTHMA AND ATOPY, SUSCEPTIBILITY TO C4016754 phenotype Finding T033 Finding 1 BXGD020372 GLAUCOMA, EARLY-ONSET, DIGENIC C4016760 disease Finding T033 Finding 1 BXGD020373 SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS C4016791 disease Finding T033 Finding 1 BXGD020374 PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO C4016792 phenotype Finding T033 Finding 1 BXGD020375 COLORECTAL CANCER WITH CHROMOSOMAL INSTABILITY C4016796 disease Neoplastic Process T191 Neoplastic Process 1 BXGD020376 MAJOR DEPRESSIVE DISORDER, INCREASED RECURRENCE OF DEPRESSIVE EPISODES IN, SUSCEPTIBILITY TO C4016801 phenotype Finding T033 Finding 1 BXGD020377 WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET C4016809 disease Finding T033 Finding 1 BXGD020378 MEGALOBLASTIC ANEMIA 1, FINNISH TYPE C4016819 disease Finding T033 Finding 1 BXGD020379 COLON CANCER, SUSCEPTIBILITY TO C4016820 phenotype Finding T033 Finding 1 BXGD020380 CITRULLINEMIA, MILD C4016834 disease Finding T033 Finding 1 BXGD020381 ADENOCARCINOMA, COLONIC, SOMATIC C4016849 disease Neoplastic Process T191 Neoplastic Process 1 BXGD020382 PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA C4016868 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD020383 MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE C4016869 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD020384 SPASTIC PARAPLEGIA 4, MODIFIER OF C4016882 phenotype Finding T033 Finding 1 BXGD020385 OBESITY, MILD, EARLY-ONSET C4016893 phenotype Finding T033 Finding 2 BXGD020386 HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO C4016902 phenotype Finding T033 Finding 2 BXGD020387 HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC C4016905 phenotype Finding T033 Finding 2 BXGD020388 FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS C4016911 phenotype Finding T033 Finding 1 BXGD020389 T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AUTOIMMUNITY, AND CARDIAC MALFORMATIONS C4016913 phenotype Finding T033 Finding 1 BXGD020390 DYSTONIA 1, TORSION, LATE-ONSET C4016920 disease Finding T033 Finding 1 BXGD020391 CEREBRAL INFARCTION, SUSCEPTIBILITY TO C4016929 phenotype Finding T033 Finding 1 BXGD020392 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE C4016942 disease Finding T033 Finding 1 BXGD020393 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5 C4016970 phenotype Finding T033 Finding 1 BXGD020394 GLYCOGEN STORAGE DISEASE II, ADULT FORM C4016981 disease Finding T033 Finding 1 BXGD020395 COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR C4016986 disease Finding T033 Finding 1 BXGD020396 GM2-GANGLIOSIDOSIS, CHRONIC C4016988 phenotype Finding T033 Finding 1 BXGD020397 GALACTOSE EPIMERASE DEFICIENCY, SEVERE C4017048 disease Finding T033 Finding 1 BXGD020398 HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY C4017062 disease Finding T033 Finding 1 BXGD020399 SCHWANNOMATOSIS, SOMATIC C4017083 phenotype Finding T033 Finding 1 BXGD020400 LONG QT SYNDROME 1, RECESSIVE C4017089 disease Finding T033 Finding 1 BXGD020401 ARYLSULFATASE A PSEUDODEFICIENCY C4017091 phenotype Finding T033 Finding 1 BXGD020402 METACHROMATIC LEUKODYSTROPHY, LATE-ONSET C4017093 disease Finding T033 Finding 1 BXGD020403 METACHROMATIC LEUKODYSTROPHY, SEVERE C4017094 disease Finding T033 Finding 1 BXGD020404 ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE C4017095 disease Finding T033 Finding 1 BXGD020405 ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE C4017096 disease Finding T033 Finding 1 BXGD020406 ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY C4017102 disease Finding T033 Finding 2 BXGD020407 NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM C4017105 disease Finding T033 Finding 1 BXGD020408 NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM C4017106 disease Finding T033 Finding 1 BXGD020409 HOMOCYSTEINE, TOTAL PLASMA, ELEVATED C4017108 disease Finding T033 Finding 1 BXGD020410 GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC C4017114 phenotype Finding T033 Finding 1 BXGD020411 GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC C4017116 phenotype Finding T033 Finding 1 BXGD020412 GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR C4017117 phenotype Finding T033 Finding 1 BXGD020413 ADULT POLYGLUCOSAN BODY NEUROPATHY C4017118 disease Finding T033 Finding 1 BXGD020414 CANAVAN DISEASE, MILD C4017127 phenotype Finding T033 Finding 2 BXGD020415 APOLIPOPROTEIN C-II (PARIS) PHENOTYPE C4017134 phenotype Finding T033 Finding 2 BXGD020416 APOLIPOPROTEIN C-II (BARI) PHENOTYPE C4017135 phenotype Finding T033 Finding 2 BXGD020417 APOLIPOPROTEIN C-II VARIANT PHENOTYPE C4017136 phenotype Finding T033 Finding 2 BXGD020418 APOLIPOPROTEIN C-II (SAN FRANCISCO) C4017137 phenotype Finding T033 Finding 2 BXGD020419 apolipoprotein C-II (Wakayama) phenotype C4017138 phenotype Finding T033 Finding 2 BXGD020420 APOLIPOPROTEIN C-II (AUCKLAND) PHENOTYPE C4017139 phenotype Finding T033 Finding 2 BXGD020421 MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA C4017152 phenotype Finding T033 Finding 1 BXGD020422 MCARDLE DISEASE, MILD C4017156 disease Finding T033 Finding 1 BXGD020423 RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS C4017161 disease Finding T033 Finding 1 BXGD020424 FACTOR XII (LOCARNO) PHENOTYPE C4017222 phenotype Finding T033 Finding 2 BXGD020425 CARBONIC ANHYDRASE II VARIANT C4017251 phenotype Finding T033 Finding 1 BXGD020426 MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE C4017253 disease Finding T033 Finding 1 BXGD020427 FAMILIAL ADENOMATOUS POLYPOSIS 1, SUSCEPTIBILITY TO C4017262 phenotype Finding T033 Finding 1 BXGD020428 SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE C4017275 disease Finding T033 Finding 1 BXGD020429 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY C4017280 disease Finding T033 Finding 1 BXGD020430 COPROPORPHYRIA, DIGENIC C4017281 disease Finding T033 Finding 1 BXGD020431 GALACTOSIALIDOSIS, LATE INFANTILE C4017292 disease Finding T033 Finding 1 BXGD020432 GALACTOSIALIDOSIS, ADULT C4017293 phenotype Finding T033 Finding 1 BXGD020433 GALACTOSIALIDOSIS, EARLY INFANTILE C4017294 disease Finding T033 Finding 1 BXGD020434 VON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO C4017296 phenotype Finding T033 Finding 1 BXGD020435 ASPARTYLGLUCOSAMINURIA, FINNISH TYPE C4017301 phenotype Finding T033 Finding 1 BXGD020436 GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA C4017305 disease Finding T033 Finding 1 BXGD020437 HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE C4017308 disease Finding T033 Finding 1 BXGD020438 LIPOMA, SOMATIC C4017330 disease Finding T033 Finding 1 BXGD020439 ANGIOFIBROMA, SOMATIC C4017331 disease Finding T033 Finding 1 BXGD020440 ADRENAL ADENOMA, SOMATIC C4017332 phenotype Finding T033 Finding 1 BXGD020441 JK-NULL VARIANT, FINNISH TYPE C4017341 phenotype Finding T033 Finding 1 BXGD020442 APPARENT MINERALOCORTICOID EXCESS, MILD C4017360 phenotype Finding T033 Finding 1 BXGD020443 CERULOPLASMIN BELFAST PHENOTYPE C4017428 phenotype Finding T033 Finding 1 BXGD020444 BETA-KNOSSOS-THALASSEMIA C4017494 disease Finding T033 Finding 1 BXGD020445 BETA-MALAY-THALASSEMIA C4017510 disease Finding T033 Finding 1 BXGD020446 BETA-SHOWA-YAKUSHIJI THALASSEMIA C4017522 disease Finding T033 Finding 1 BXGD020447 BETA-PLUS-THALASSEMIA, DOMINANT C4017525 disease Finding T033 Finding 1 BXGD020448 BETA-THALASSEMIA, LERMONTOV TYPE C4017528 disease Finding T033 Finding 1 BXGD020449 FACTOR VIII (EAST HARTFORD) PHENOTYPE C4017565 phenotype Finding T033 Finding 1 BXGD020450 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF C4017631 phenotype Finding T033 Finding 1 BXGD020451 HEXA, CZECHOSLOVAKIAN ALLELE PHENOTYPE C4017633 phenotype Finding T033 Finding 1 BXGD020452 LPL-ARITA PHENOTYPE C4017648 phenotype Finding T033 Finding 1 BXGD020453 LIPOPROTEIN LIPASE (OLBIA) PHENOTYPE C4017649 phenotype Finding T033 Finding 1 BXGD020454 VON WILLEBRAND FACTOR VICENZA PHENOTYPE C4017650 phenotype Finding T033 Finding 1 BXGD020455 ALDOSTERONE-PRODUCING ADRENAL ADENOMA, SOMATIC C4017656 disease Finding T033 Finding 1 BXGD020456 VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO C4017668 phenotype Finding T033 Finding 2 BXGD020457 APOLIPOPROTEIN A-I (NORWAY) PHENOTYPE C4017713 phenotype Finding T033 Finding 2 BXGD020458 HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE C4017784 disease Finding T033 Finding 1 BXGD020459 METACHROMATIC LEUKODYSTROPHY, MILD C4017847 disease Finding T033 Finding 1 BXGD020460 Abnormal fear/anxiety-related behavior C4018849 disease Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 5 BXGD020461 J wave C4018858 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 1 BXGD020462 Pituitary growth hormone cell adenoma C4018860 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 8 BXGD020463 Abnormality of the respiratory system C4018871 disease Anatomical Abnormality HP:0002086 Abnormality of the respiratory system T190 Anatomical Abnormality 16 BXGD020464 Unilateral Breast Neoplasms C4018978 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 7 BXGD020465 Intestinal obstruction co-occurrent and due to decreased peristalsis C4019039 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD020466 Speech Sound Disorders C4019167 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 11 BXGD020467 Antiphospholipid antibody positivity C4019436 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 18 BXGD020468 Abnormality of peripheral nerve conduction C4020690 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 8 BXGD020469 Congenital dermal melanocytosis C4020699 disease Congenital Abnormality HP:0001574 Abnormality of the integument T019 Congenital Abnormality 3 BXGD020470 Sertoli cell neoplasm C4020704 disease C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm T191 Neoplastic Process 3 BXGD020471 Glomerulocystic kidney disease C4020705 disease Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 11 BXGD020472 Wide nasal ridge C4020718 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 3 BXGD020473 Increased intramyocellular lipid droplets C4020730 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 27 BXGD020474 Mitochondrial abnormalities C4020732 disease Anatomical Abnormality HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T190 Anatomical Abnormality 83 BXGD020475 Elevated urinary vanillylmandelic acid C4020735 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 2 BXGD020476 Clinodactyly of the 4th toe C4020740 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 5 BXGD020477 Intimal fibrosis C4020753 disease Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 1 BXGD020478 Abnormality of fontanelles C4020755 disease Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD020479 Hypoplasia of the premaxilla C4020770 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 3 BXGD020480 maternal hyperglycemia C4020778 disease C18;C13;C19 Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome HP:0001939;HP:0001197;HP:0000818 Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth; Abnormality of the endocrine system T047 Disease or Syndrome 8 BXGD020481 Decreased activity of mitochondrial complex IV C4020800 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 6 BXGD020482 Abnormal type II collagen C4020803 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020483 Agenesis of incisor C4020815 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 2 BXGD020484 Neonatal hemolytic anemia C4020827 disease Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 2 BXGD020485 Increased spinal bone density C4020828 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 1 BXGD020486 Abnormality of pelvic girdle bone morphology C4020847 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 55 BXGD020487 Aneurysmal disease C4020848 disease Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 14 BXGD020488 Neuro-degenerative disease C4020854 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 1 BXGD020489 Abnormality of abdomen morphology C4020869 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality HP:0025031 Abnormality of the digestive system T190 Anatomical Abnormality 17 BXGD020490 Genitourinary dysplasia C4020895 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 3 BXGD020491 Overactive bladder syndrome C4020898 disease Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 9 BXGD020492 Myelin tomacula C4020904 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 1 BXGD020493 Metaphyseal dappling C4020907 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD020494 Hypointensity of cerebral white matter on MRI C4020908 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0000707 Abnormality of the nervous system T033 Finding 6 BXGD020495 Herpetiform corneal ulceration C4020911 disease C01;C11 Infections; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 1 BXGD020496 Flared humeral metaphysis C4020912 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD020497 Dysharmonic bone age C4020918 phenotype Pathologic Function HP:0000924 Abnormality of the skeletal system T046 Pathologic Function 1 BXGD020498 Dense metaphyseal bands C4020919 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD020499 Enlarged interhemispheric fissure C4020920 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD020500 Enlarged fossa interpeduncularis C4020922 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD020501 Sclerosis of finger phalanx C4020941 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020502 Palmar telangiectasia C4020948 disease Anatomical Abnormality HP:0001574;HP:0040064;HP:0001626 Abnormality of the integument; Abnormality of limbs; Abnormality of the cardiovascular system T190 Anatomical Abnormality 5 BXGD020503 Abnormal emotion/affect behavior C4020949 phenotype F01 Behavior and Behavior Mechanisms Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 3 BXGD020504 Pointed helix C4020951 phenotype Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 1 BXGD020505 Fingernail dysplasia C4020952 disease Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 11 BXGD020506 Abnormality of vertebral epiphysis morphology C4020953 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020507 Abnormal trabecular bone morphology C4020957 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 6 BXGD020508 Rough bone trabeculation C4020958 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 19 BXGD020509 Abnormal pigmentation of the oral mucosa C4020959 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 1 BXGD020510 Abnormality of nail color C4020960 disease C23 Pathological Conditions, Signs and Symptoms Finding HP:0001574 Abnormality of the integument T033 Finding 8 BXGD020511 Displacement of the external urethral meatus C4020961 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 1 BXGD020512 Enlarged thorax C4020962 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 25 BXGD020513 Absent nares C4020963 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 4 BXGD020514 Cardiac diverticulum C4020965 disease Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 14 BXGD020515 Abnormally ossified vertebrae C4020966 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 8 BXGD020516 Abnormal localization of kidney C4020968 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 40 BXGD020517 Inflammatory abnormality of the eye C4020969 disease Disease or Syndrome HP:0002715;HP:0000478 Abnormality of the immune system; Abnormality of the eye T047 Disease or Syndrome 88 BXGD020518 Abnormality of lower limb joint C4020971 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020519 Short middle phalanx of the 4th toe C4021004 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020520 Short distal phalanx of the 5th toe C4021006 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020521 Non-midline cleft lip C4021020 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 16 BXGD020522 Muscle fiber tubular inclusions C4021024 phenotype Anatomical Abnormality HP:0003011 Abnormality of the musculature T190 Anatomical Abnormality 8 BXGD020523 Synostosis of carpals/tarsals C4021025 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020524 Abnormal tendon morphology C4021026 phenotype Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020525 Pseudo-fractures C4021028 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 10 BXGD020526 Conspicuously happy disposition C4021029 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD020527 Abnormal motor nerve conduction velocity C4021031 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 3 BXGD020528 Abnormal vitamin B12 level C4021032 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 5 BXGD020529 Abnormal circulating renin C4021038 disease Finding HP:0000818 Abnormality of the endocrine system T033 Finding 5 BXGD020530 Freckled genitalia C4021040 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 2 BXGD020531 Maternal fever in pregnancy C4021041 phenotype Finding HP:0001939;HP:0001197 Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth T033 Finding 1 BXGD020532 Accumulation of muscle fiber desmin C4021043 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 1 BXGD020533 Increased jitter at single fibre EMG C4021045 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 5 BXGD020534 Impaired visually enhanced vestibulo-ocular reflex C4021047 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 1 BXGD020535 Dilated superficial abdominal veins C4021050 phenotype Anatomical Abnormality HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system T190 Anatomical Abnormality 3 BXGD020536 Reduced muscle collagen VI C4021054 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 5 BXGD020537 Hyperplastic labia majora C4021060 phenotype Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 1 BXGD020538 Fullness of paranasal tissue C4021065 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 2 BXGD020539 Narrow jaw C4021066 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 11 BXGD020540 Absent mastoid C4021070 disease Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 1 BXGD020541 Morphological abnormality of the gastrointestinal tract C4021073 phenotype Anatomical Abnormality HP:0025031 Abnormality of the digestive system T190 Anatomical Abnormality 2 BXGD020542 Iron accumulation in brain C4021076 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD020543 Fatty replacement of skeletal muscle C4021082 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 17 BXGD020544 Abnormality of brain morphology C4021085 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 104 BXGD020545 Abnormal biliary tract morphology C4021086 phenotype Anatomical Abnormality HP:0025031 Abnormality of the digestive system T190 Anatomical Abnormality 3 BXGD020546 Abnormal social behavior C4021087 phenotype F01 Behavior and Behavior Mechanisms Finding HP:0000707 Abnormality of the nervous system T033 Finding 19 BXGD020547 Prominent calcaneus C4021088 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020548 Decreased serum complement C9 C4021093 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 1 BXGD020549 Type II transferrin isoform profile C4021094 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 7 BXGD020550 Abnormal hypothalamus morphology C4021095 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 4 BXGD020551 Abnormal reproductive system morphology C4021096 phenotype Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 2 BXGD020552 Reduced prothrombin activity C4021097 phenotype Finding T033 Finding 1 BXGD020553 Orthostatic tachycardia C4021099 phenotype C10 Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD020554 Increased fibular diameter C4021100 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 5 BXGD020555 Abnormality of exocrine pancreas physiology C4021103 phenotype Pathologic Function HP:0025031 Abnormality of the digestive system T046 Pathologic Function 3 BXGD020556 Elevated coagulation factor V activity C4021106 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD020557 Non-obstructive azoospermia C4021107 disease C12 Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 168 BXGD020558 Short 5th toe C4021111 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020559 Tented philtrum C4021119 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 1 BXGD020560 Adrenocorticotropic hormone excess C4021124 phenotype C10;C19 Nervous System Diseases; Endocrine System Diseases Pathologic Function HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T046 Pathologic Function 5 BXGD020561 Secretory adrenocortical adenoma C4021125 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0002664 Abnormality of the endocrine system; Neoplasm T191 Neoplastic Process 2 BXGD020562 Supraventricular tachycardia with an accessory connection mediated pathway C4021132 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 1 BXGD020563 Left ventricular noncompaction cardiomyopathy C4021133 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 39 BXGD020564 Hyperpigmentation of the fundus C4021146 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD020565 Abnormal CNS myelination C4021152 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 9 BXGD020566 Generalized abnormality of skin C4021157 disease Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 3 BXGD020567 Facial shape deformation C4021159 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 1 BXGD020568 Multiple suture craniosynostosis C4021161 phenotype C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 12 BXGD020569 Bicoronal synostosis C4021164 disease Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 6 BXGD020570 Abnormality of long bone morphology C4021165 phenotype Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD020571 Bridged palmar crease C4021166 disease Anatomical Abnormality HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T190 Anatomical Abnormality 1 BXGD020572 Tapered toe C4021167 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD020573 Slender toe C4021168 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 6 BXGD020574 Partial absence of toe C4021169 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD020575 Microtia, third degree C4021174 phenotype C16;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 10 BXGD020576 Underdeveloped superior crus of antihelix C4021189 disease Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 1 BXGD020577 Underdeveloped inferior crus of antihelix C4021194 phenotype Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 1 BXGD020578 Chromosomal breakage induced by ionizing radiation C4021206 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T046 Pathologic Function 6 BXGD020579 EEG with periodic lateralized epileptiform discharges C4021215 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD020580 EEG with persistent abnormal rhythmic activity C4021216 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD020581 EEG with generalized slow activity C4021217 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 8 BXGD020582 Multifocal epileptiform discharges C4021219 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 52 BXGD020583 Impaired tactile sensation C4021221 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD020584 Impaired temperature sensation C4021222 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 8 BXGD020585 Abnormality of the twelfth cranial nerve C4021224 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 1 BXGD020586 Abnormality of the eleventh cranial nerve C4021225 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 1 BXGD020587 Underdeveloped nasolabial fold C4021227 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 3 BXGD020588 Gonadal neoplasm C4021228 disease Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm T191 Neoplastic Process 1 BXGD020589 2-4 toe syndactyly C4021234 disease Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 2 BXGD020590 Elevated tissue non-specific alkaline phosphatase C4021240 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD020591 Abnormal foot bone ossification C4021241 disease C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD020592 Hypoplasia of the zygomatic bone C4021242 disease Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 29 BXGD020593 Abnormality of thalamus morphology C4021243 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 10 BXGD020594 Abnormal hand bone ossification C4021244 phenotype C05 Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD020595 Anterior pituitary agenesis C4021249 phenotype Finding HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T033 Finding 8 BXGD020596 Intracranial cystic lesion C4021250 phenotype C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD020597 Dysplasia of the femoral head C4021251 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD020598 Undulate clavicles C4021253 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020599 Cutaneous finger syndactyly C4021254 disease Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 20 BXGD020600 Weakness due to upper motor neuron dysfunction C4021255 phenotype Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 1 BXGD020601 Limitation of knee mobility C4021259 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD020602 Long metacarpals C4021260 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 4 BXGD020603 Absent palmar crease C4021262 phenotype Finding HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T033 Finding 9 BXGD020604 Abnormal ventricular septum morphology C4021264 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 2 BXGD020605 Curved 4th toe phalanx C4021280 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020606 Prominent palatine ridges C4021300 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 3 BXGD020607 Aplasia of the proximal phalanges of the hand C4021302 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD020608 Small epiphyses of the phalanges of the hand C4021305 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020609 Aplasia/Hypoplasia of the distal phalanges of the toes C4021326 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 4 BXGD020610 Short distal phalanx of hallux C4021335 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD020611 Complete duplication of hallux phalanx C4021336 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020612 Partial duplication of the distal phalanx of the hallux C4021337 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020613 Broad hallux phalanx C4021343 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 17 BXGD020614 Partial duplication of the distal phalanx of the 3rd finger C4021360 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD020615 Partial duplication of the distal phalanx of the 2nd finger C4021365 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD020616 Duplication of thumb phalanx C4021370 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 6 BXGD020617 Cleft helix C4021376 phenotype Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 3 BXGD020618 Prominent crus of helix C4021377 disease Anatomical Abnormality HP:0000924;HP:0000598 Abnormality of the skeletal system; Abnormality of the ear T190 Anatomical Abnormality 3 BXGD020619 Abnormality of the crus of the helix C4021380 phenotype Anatomical Abnormality HP:0000924;HP:0000598 Abnormality of the skeletal system; Abnormality of the ear T190 Anatomical Abnormality 3 BXGD020620 Broad middle phalanx of finger C4021383 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020621 Abnormality of the elbow C4021386 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 12 BXGD020622 Symphalangism affecting the phalanges of the hand C4021390 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 13 BXGD020623 Broad phalanges of the hand C4021391 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD020624 Spinalarachnoid cyst C4021393 phenotype C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD020625 Abnormality of the antihelix C4021395 disease Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 17 BXGD020626 Synostosis involving the 1st metacarpal C4021397 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020627 Metacarpal synostosis C4021398 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 11 BXGD020628 Finger symphalangism C4021399 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD020629 Absent proximal phalanx of thumb C4021418 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD020630 Complete duplication of distal phalanx of the thumb C4021427 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD020631 Short proximal phalanx of the 2nd finger C4021430 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020632 Abnormality of the vestibulocochlear nerve C4021431 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 2 BXGD020633 Triangular shaped proximal phalanx of the 2nd finger C4021432 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020634 Short middle phalanx of the 2nd finger C4021435 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD020635 Short distal phalanx of the 2nd finger C4021438 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD020636 Triangular epiphysis of the proximal phalanx of the 2nd finger C4021454 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020637 Enlarged epiphysis of the proximal phalanx of the 2nd finger C4021455 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020638 Pseudoepiphyses of the 2nd finger C4021465 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD020639 Short 3rd finger C4021469 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020640 Short middle phalanx of the 3rd finger C4021474 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020641 Pseudoepiphyses of the 3rd finger C4021480 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020642 Triangular epiphysis of the proximal phalanx of the 3rd finger C4021487 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020643 Enlarged epiphysis of the proximal phalanx of the 3rd finger C4021488 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020644 Triangular epiphysis of the middle phalanx of the 3rd finger C4021490 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020645 Short middle phalanx of the 4th finger C4021497 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020646 Short distal phalanx of the 4th finger C4021499 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020647 Short proximal phalanx of the 5th finger C4021509 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD020648 Deviation of the 5th finger C4021515 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD020649 Depletion of mitochondrial DNA in muscle tissue C4021521 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 1 BXGD020650 Upper limb amyotrophy C4021523 disease Disease or Syndrome HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T047 Disease or Syndrome 9 BXGD020651 Abnormal adipose tissue morphology C4021524 disease Anatomical Abnormality HP:0003549 Abnormality of connective tissue T190 Anatomical Abnormality 6 BXGD020652 Abnormal pelvis bone ossification C4021525 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 7 BXGD020653 Exercise-induced rhabdomyolysis C4021526 phenotype C05 Musculoskeletal Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 6 BXGD020654 Abdominal wall muscle weakness C4021527 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 9 BXGD020655 Pelvic girdle amyotrophy C4021528 disease Disease or Syndrome HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T047 Disease or Syndrome 2 BXGD020656 Severe sensorineural hearing impairment C4021533 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000598 Abnormality of the ear T047 Disease or Syndrome 23 BXGD020657 Adult onset sensorineural hearing impairment C4021534 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000598 Abnormality of the ear T047 Disease or Syndrome 8 BXGD020658 Infantile sensorineural hearing impairment C4021535 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 7 BXGD020659 Mild conductive hearing impairment C4021536 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding HP:0000598 Abnormality of the ear T033 Finding 1 BXGD020660 Mild neurosensory hearing impairment C4021538 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000598 Abnormality of the ear T047 Disease or Syndrome 35 BXGD020661 Posterior helix pit C4021539 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 9 BXGD020662 Anterior beaking of lumbar vertebrae C4021541 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD020663 Abnormal mitochondria in muscle tissue C4021546 disease Anatomical Abnormality HP:0001939;HP:0025354;HP:0003011 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype; Abnormality of the musculature T190 Anatomical Abnormality 39 BXGD020664 Neutrophil inclusion bodies C4021547 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD020665 Euthyroid hyperthyroxinemia C4021549 phenotype Pathologic Function HP:0000818 Abnormality of the endocrine system T046 Pathologic Function 1 BXGD020666 Elevated circulating follicle stimulating hormone level C4021550 phenotype Finding HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T033 Finding 26 BXGD020667 Absence of secondary sex characteristics C4021551 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 44 BXGD020668 Asymptomatic hyperammonemia C4021552 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD020669 Periodic hypokalemic paresis C4021553 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 9 BXGD020670 Irregular tarsal ossification C4021554 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD020671 Enlarged flash visual evoked potentials C4021558 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD020672 Electronegative electroretinogram C4021561 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 3 BXGD020673 Retinal nonattachment C4021563 disease C11 Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 7 BXGD020674 Hypoplasia of the lacrimal punctum C4021564 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 3 BXGD020675 Progressive cataract C4021566 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 3 BXGD020676 Central heterochromia C4021567 phenotype C23;C11;C17 Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases Sign or Symptom HP:0000478 Abnormality of the eye T184 Sign or Symptom 7 BXGD020677 Central retinal vessel vascular tortuosity C4021569 phenotype Finding HP:0000152;HP:0000478;HP:0001626 Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system T033 Finding 11 BXGD020678 Undetectable light- and dark-adapted electroretinogram C4021570 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 11 BXGD020679 Abnormal vestibulo-ocular reflex C4021571 disease Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 1 BXGD020680 Patchy hypo- and hyperpigmentation C4021573 disease Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 3 BXGD020681 Chronic axonal neuropathy C4021578 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 5 BXGD020682 Progressive extrapyramidal muscular rigidity C4021580 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD020683 Distal upper limb amyotrophy C4021581 disease Disease or Syndrome HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T047 Disease or Syndrome 8 BXGD020684 Distal peripheral sensory neuropathy C4021582 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 6 BXGD020685 Impaired distal tactile sensation C4021583 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD020686 Frontotemporal cerebral atrophy C4021584 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 14 BXGD020687 Impaired distal proprioception C4021585 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 7 BXGD020688 Absent glenoid fossa C4021589 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD020689 Reduced number of intrahepatic bile ducts C4021591 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 2 BXGD020690 Abnormality of primary teeth C4021596 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 1 BXGD020691 Delayed patellar ossification C4021597 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD020692 Distal tibial bowing C4021598 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD020693 Premature eruption of permanent teeth C4021601 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 1 BXGD020694 Shortening of all middle phalanges of the toes C4021605 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020695 Shortening of all distal phalanges of the fingers C4021608 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 40 BXGD020696 Delayed phalangeal epiphyseal ossification C4021609 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD020697 Abnormality of epiphysis morphology C4021611 phenotype Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 86 BXGD020698 Polysyndactyly of hallux C4021618 disease Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 1 BXGD020699 Clinodactyly of the 2nd toe C4021620 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 32 BXGD020700 Neonatal epiphyseal stippling C4021623 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD020701 Osteosclerosis of the base of the skull C4021624 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 4 BXGD020702 Spinal stenosis with reduced interpedicular distance C4021625 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD020703 Lethal skeletal dysplasia C4021626 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 17 BXGD020704 Bilateral triphalangeal thumbs C4021627 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD020705 Absent ossification of calvaria C4021629 disease Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD020706 Broad long bones C4021630 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 6 BXGD020707 Facial telangiectasia in butterfly midface distribution C4021632 phenotype Finding HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system T033 Finding 2 BXGD020708 Patchy palmoplantar keratoderma C4021633 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 5 BXGD020709 Abnormality of bone marrow cell morphology C4021634 disease Anatomical Abnormality HP:0001871 Abnormality of blood and blood-forming tissues T190 Anatomical Abnormality 15 BXGD020710 Decreased serum complement factor B C4021636 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 5 BXGD020711 Abnormality of the nares C4021637 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 8 BXGD020712 Absent nasal septal cartilage C4021638 disease Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD020713 Intestinal hypoplasia C4021640 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 7 BXGD020714 Absence of intrinsic factor C4021641 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 1 BXGD020715 Abnormality of the Achilles tendon C4021642 disease C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 8 BXGD020716 Impairment of galactose metabolism C4021643 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 3 BXGD020717 Prolonged bleeding after surgery C4021646 phenotype Pathologic Function HP:0001871 Abnormality of blood and blood-forming tissues T046 Pathologic Function 11 BXGD020718 Fava bean-induced hemolytic anemia C4021648 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 2 BXGD020719 Short fifth metatarsal C4021649 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD020720 Short third metatarsal C4021650 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD020721 Hypoplasia of the nasal bone C4021651 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 3 BXGD020722 Precocious atherosclerosis C4021654 phenotype C14 Cardiovascular Diseases Pathologic Function HP:0001626 Abnormality of the cardiovascular system T046 Pathologic Function 9 BXGD020723 Abnormality of the sense of smell C4021655 phenotype Finding HP:0000707;HP:0000152 Abnormality of the nervous system; Abnormality of head or neck T033 Finding 14 BXGD020724 Abnormality of bone mineral density C4021657 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 22 BXGD020725 Abnormality of vitamin B12 metabolism C4021658 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD020726 Abnormal endocardium morphology C4021662 phenotype C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 23 BXGD020727 Abnormality of the abdominal wall C4021664 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality HP:0025031 Abnormality of the digestive system T190 Anatomical Abnormality 17 BXGD020728 Short distal phalanx of the 3rd finger C4021681 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020729 Sclerosis of hand bone C4021684 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 1 BXGD020730 Ulnar metaphyseal irregularity C4021688 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020731 Radial metaphyseal irregularity C4021692 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020732 Epiphyseal stippling of the humerus C4021711 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020733 Short middle phalanx of toe C4021723 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD020734 Cytochrome C oxidase-negative muscle fibers C4021724 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 24 BXGD020735 EMG: myopathic abnormalities C4021726 phenotype C05;C10 Musculoskeletal Diseases; Nervous System Diseases Pathologic Function HP:0003011 Abnormality of the musculature T046 Pathologic Function 115 BXGD020736 EMG: neuropathic changes C4021727 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 28 BXGD020737 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation C4021728 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 24 BXGD020738 Increased VLDL cholesterol concentration C4021729 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 5 BXGD020739 Junctional split C4021730 disease Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 6 BXGD020740 Pyrimidine-responsive megaloblastic anemia C4021731 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 1 BXGD020741 Hyperlysinuria C4021733 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 4 BXGD020742 Abnormality of mitochondrial metabolism C4021734 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 21 BXGD020743 Abnormality of the hip bone C4021735 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 40 BXGD020744 Decreased methylcobalamin C4021736 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 7 BXGD020745 Chromosomal breakage induced by crosslinking agents C4021737 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 8 BXGD020746 Abnormality of the pubic bone C4021738 phenotype Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD020747 Abnormality of the acetabulum C4021739 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 7 BXGD020748 Increased circulating ACTH level C4021740 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 12 BXGD020749 Abnormal cortical bone morphology C4021741 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 41 BXGD020750 Abnormality of the humerus C4021742 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 10 BXGD020751 Abnormality of the wrist C4021744 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 10 BXGD020752 Abnormality of the musculature C4021745 phenotype Anatomical Abnormality HP:0003011 Abnormality of the musculature T190 Anatomical Abnormality 24 BXGD020753 Specific anti-polysaccharide antibody deficiency C4021747 phenotype Finding HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T033 Finding 6 BXGD020754 Cystic angiomatosis of bone C4021749 phenotype C04;C05 Neoplasms; Musculoskeletal Diseases Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD020755 Abnormality of femur morphology C4021750 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 33 BXGD020756 Recurrent Klebsiella infections C4021751 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 5 BXGD020757 Recurrent Aspergillus infections C4021752 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 5 BXGD020758 Abnormality of the immune system C4021753 disease Pathologic Function HP:0002715 Abnormality of the immune system T046 Pathologic Function 34 BXGD020759 Abnormality of the sella turcica C4021754 phenotype Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD020760 EEG with polyspike wave complexes C4021757 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 30 BXGD020761 Delayed CNS myelination C4021758 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 21 BXGD020762 Generalized myoclonic seizures C4021759 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 105 BXGD020763 Morphological abnormality of the pyramidal tract C4021761 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 18 BXGD020764 Morphological abnormality of the central nervous system C4021765 group Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 10 BXGD020765 Decreased platelet glycoprotein IIb-IIIa C4021767 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 2 BXGD020766 Abnormality of metabolism/homeostasis C4021768 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 171 BXGD020767 Clinodactyly of toe C4021770 disease Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 8 BXGD020768 Short distal phalanx of toe C4021771 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD020769 Bifid distal phalanx of toe C4021772 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD020770 Camptodactyly of toe C4021774 disease Anatomical Abnormality HP:0040064;HP:0000924;HP:0003549;HP:0003011 Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T190 Anatomical Abnormality 9 BXGD020771 High-frequency sensorineural hearing impairment C4021775 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000598 Abnormality of the ear T047 Disease or Syndrome 4 BXGD020772 Abnormality of the voice C4021776 disease Finding HP:0001608 Abnormality of the voice T033 Finding 64 BXGD020773 Abnormality of the larynx C4021777 phenotype Anatomical Abnormality HP:0002086 Abnormality of the respiratory system T190 Anatomical Abnormality 11 BXGD020774 Abnormality of the calf musculature C4021779 disease Anatomical Abnormality HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T190 Anatomical Abnormality 9 BXGD020775 Abnormality of the liver C4021780 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 75 BXGD020776 Abnormal nervous system electrophysiology C4021781 phenotype Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 3 BXGD020777 Interphalangeal joint contracture of finger C4021784 disease Anatomical Abnormality HP:0040064;HP:0000924;HP:0003549;HP:0003011 Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T190 Anatomical Abnormality 1 BXGD020778 Abnormality of the metacarpal bones C4021785 disease C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 40 BXGD020779 Atypical scarring of skin C4021786 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0001574;HP:0003549 Abnormality of the integument; Abnormality of connective tissue T046 Pathologic Function 101 BXGD020780 Abnormal diaphysis morphology C4021787 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 11 BXGD020781 Abnormality of the vertebral column C4021789 phenotype Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 24 BXGD020782 Abnormality of the skeletal system C4021790 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 148 BXGD020783 Abnormality of the clavicle C4021792 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 42 BXGD020784 Abnormality of the adrenal glands C4021794 disease Anatomical Abnormality HP:0000818 Abnormality of the endocrine system T190 Anatomical Abnormality 10 BXGD020785 Abnormality of Krebs cycle metabolism C4021795 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 12 BXGD020786 Renal steatosis C4021796 disease Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 12 BXGD020787 Abnormality of the thorax C4021797 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 40 BXGD020788 Impaired use of nonverbal behaviors C4021798 phenotype F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 8 BXGD020789 Restrictive behavior C4021799 phenotype Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 13 BXGD020790 Abnormality of dental enamel C4021800 group Anatomical Abnormality HP:0000152;HP:0000924;HP:0003549 Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue T190 Anatomical Abnormality 96 BXGD020791 Lacrimation abnormality C4021801 disease Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 29 BXGD020792 Abnormal eyelid morphology C4021803 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 10 BXGD020793 Abnormality of the nasal alae C4021804 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 1 BXGD020794 Abnormality of the nasal bridge C4021805 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 3 BXGD020795 Prelingual sensorineural hearing impairment C4021806 disease Disease or Syndrome HP:0000598 Abnormality of the ear T047 Disease or Syndrome 17 BXGD020796 Abnormality of earlobe C4021808 disease Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 9 BXGD020797 Abnormality of the midface C4021811 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 1 BXGD020798 Abnormality of the head C4021812 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 9 BXGD020799 Oral cleft C4021813 disease Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 85 BXGD020800 Accessory oral frenulum C4021814 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 12 BXGD020801 Abnormal palate morphology C4021815 disease Finding HP:0000152 Abnormality of head or neck T033 Finding 40 BXGD020802 Abnormality of the gingiva C4021816 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 13 BXGD020803 Abnormality of head or neck C4021817 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 6 BXGD020804 Abnormality of the ovary C4021818 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 8 BXGD020805 Abnormality of reproductive system physiology C4021820 phenotype Pathologic Function HP:0000119 Abnormality of the genitourinary system T046 Pathologic Function 1 BXGD020806 Abnormality of the urinary system C4021821 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 50 BXGD020807 Abnormality of female external genitalia C4021822 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 15 BXGD020808 Ambiguous genitalia, male C4021823 phenotype C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 13 BXGD020809 Postaxial polysyndactyly of foot C4021824 disease Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 3 BXGD020810 Narrow nail C4021829 phenotype Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 2 BXGD020811 Bilateral camptodactyly C4021830 disease Congenital Abnormality HP:0040064;HP:0000924;HP:0003549;HP:0003011 Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T019 Congenital Abnormality 2 BXGD020812 Hypohidrosis or hyperhidrosis C4021831 disease Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 1 BXGD020813 Sacral lipoma C4021835 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0003549 Neoplasm; Abnormality of connective tissue T191 Neoplastic Process 2 BXGD020814 Atypical nevi in non-sun exposed areas C4021837 phenotype C04 Neoplasms Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD020815 Abnormal dense granule content C4021839 phenotype Anatomical Abnormality HP:0001871 Abnormality of blood and blood-forming tissues T190 Anatomical Abnormality 1 BXGD020816 Oromotor apraxia C4021845 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 5 BXGD020817 Abnormal cartilage collagen C4021847 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020818 Conjunctival hamartoma C4021849 disease Disease or Syndrome HP:0002664;HP:0000152;HP:0000478 Neoplasm; Abnormality of head or neck; Abnormality of the eye T047 Disease or Syndrome 10 BXGD020819 Increased sensitivity to ionizing radiation C4021850 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 7 BXGD020820 Speckled corneal dystrophy C4021857 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 1 BXGD020821 Absent epiphyses C4021862 phenotype Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD020822 Long distal phalanx of finger C4021865 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020823 obsolete Abnormal heart morphology C4021866 phenotype Anatomical Abnormality T190 Anatomical Abnormality 12 BXGD020824 Abnormality of the frontal bone C4021873 phenotype Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD020825 Tall chin C4021875 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 3 BXGD020826 Agenesis of lateral incisor C4021881 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 10 BXGD020827 Increased serum bile acid concentration during pregnancy C4021882 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 2 BXGD020828 Abnormal liver function tests during pregnancy C4021883 disease Finding HP:0025031 Abnormality of the digestive system T033 Finding 3 BXGD020829 Atrial cardiomyopathy C4021885 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 7 BXGD020830 Absent fifth toenail C4021892 phenotype Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 3 BXGD020831 Upper limb hypertonia C4021898 phenotype Anatomical Abnormality HP:0000707;HP:0040064;HP:0003011 Abnormality of the nervous system; Abnormality of limbs; Abnormality of the musculature T190 Anatomical Abnormality 6 BXGD020832 Premature chromatid separation C4021899 phenotype Cell or Molecular Dysfunction HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T049 Cell or Molecular Dysfunction 3 BXGD020833 Short corpus callosum C4021902 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 3 BXGD020834 Abnormal size of the palpebral fissures C4021904 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 1 BXGD020835 Splayed epiphyses C4021906 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020836 Narrow foramen obturatorium C4021910 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 6 BXGD020837 Abnormality of globe size C4021945 phenotype Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 2 BXGD020838 Poorly ossified vertebrae C4021953 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD020839 Aplasia/Hypoplasia of the eyebrow C4021956 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 52 BXGD020840 Recurrent cutaneous abscess formation C4021957 phenotype Finding HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T033 Finding 6 BXGD020841 Round ear C4021959 disease Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 10 BXGD020842 Increased T cell count C4021960 phenotype C15 Hemic and Lymphatic Diseases Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 2 BXGD020843 Genital hernia C4021962 phenotype C23 Pathological Conditions, Signs and Symptoms Congenital Abnormality HP:0003549 Abnormality of connective tissue T019 Congenital Abnormality 3 BXGD020844 Lip hyperpigmentation C4021963 disease Anatomical Abnormality HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T190 Anatomical Abnormality 1 BXGD020845 Abnormality of the periungual region C4021966 disease C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 1 BXGD020846 Aplasia/Hypoplasia of the pancreas C4021968 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 5 BXGD020847 Abnormally straight spine C4021969 phenotype Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020848 Peripheral arteriovenous fistula C4021971 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 8 BXGD020849 Urogenital sinus anomaly C4021972 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 18 BXGD020850 Cartilage destruction C4021973 phenotype Pathologic Function HP:0000924 Abnormality of the skeletal system T046 Pathologic Function 2 BXGD020851 Abnormality of the tonsils C4021975 disease Anatomical Abnormality HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system T190 Anatomical Abnormality 12 BXGD020852 Abnormality of the lymphatic system C4021976 disease Anatomical Abnormality HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system T190 Anatomical Abnormality 16 BXGD020853 Visceral angiomatosis C4021977 disease Disease or Syndrome HP:0002664;HP:0001626 Neoplasm; Abnormality of the cardiovascular system T047 Disease or Syndrome 17 BXGD020854 Abnormality of salivation C4021978 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 3 BXGD020855 Muscular edema C4021979 phenotype C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality HP:0001939;HP:0003011 Abnormality of metabolism/homeostasis; Abnormality of the musculature T190 Anatomical Abnormality 2 BXGD020856 Abnormal eating behavior C4021982 phenotype Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 8 BXGD020857 Germ cell neoplasia C4021985 disease Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm T191 Neoplastic Process 22 BXGD020858 Hypoplasia of the ear cartilage C4021986 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 14 BXGD020859 Abnormality of the lumbar spine C4021988 phenotype Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD020860 Abnormality of the thoracic spine C4021989 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD020861 Abnormality of the astrocytes C4021991 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 1 BXGD020862 Lack of skin elasticity C4021998 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 22 BXGD020863 Abnormality of the cerebral vasculature C4022001 disease Anatomical Abnormality HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system T190 Anatomical Abnormality 18 BXGD020864 Thoracoabdominal wall defect C4022002 disease Congenital Abnormality HP:0025031;HP:0000924 Abnormality of the digestive system; Abnormality of the skeletal system T019 Congenital Abnormality 2 BXGD020865 Erectile abnormalities C4022003 disease Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 24 BXGD020866 Maternal seizures C4022010 phenotype Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 3 BXGD020867 Leydig cell neoplasia C4022011 disease C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm T191 Neoplastic Process 6 BXGD020868 Death in early adulthood C4022012 phenotype Finding T033 Finding 46 BXGD020869 Multiple glomerular cysts C4022013 phenotype Pathologic Function HP:0000119 Abnormality of the genitourinary system T046 Pathologic Function 12 BXGD020870 Maternal hyperphenylalaninemia C4022014 phenotype Finding HP:0001939;HP:0001197 Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth T033 Finding 1 BXGD020871 Abnormality of the preputium C4022016 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 22 BXGD020872 Telangiectasia of the skin C4022018 phenotype C14 Cardiovascular Diseases Finding HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system T033 Finding 56 BXGD020873 Mucosal telangiectasiae C4022020 disease C14 Cardiovascular Diseases Anatomical Abnormality HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system T190 Anatomical Abnormality 16 BXGD020874 Upper limb asymmetry C4022024 disease Anatomical Abnormality HP:0040064;HP:0001507 Abnormality of limbs; Growth abnormality T190 Anatomical Abnormality 9 BXGD020875 Asymmetric growth C4022025 phenotype Finding HP:0001507 Growth abnormality T033 Finding 6 BXGD020876 Neoplasia of the pleura C4022033 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process HP:0002664;HP:0002086 Neoplasm; Abnormality of the respiratory system T191 Neoplastic Process 2 BXGD020877 Abnormality of vitamin E metabolism C4022034 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD020878 Abnormality of vitamin D metabolism C4022035 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD020879 Hypoammonemia C4022041 disease Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 1 BXGD020880 Aplasia of the middle phalanges of the toes C4022107 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD020881 Aplasia/Hypoplasia of the distal phalanx of the 5th toe C4022120 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 10 BXGD020882 Aplasia of the phalanges of the 3rd toe C4022125 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD020883 Unilateral cleft palate C4022143 disease Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 12 BXGD020884 Cerebral cortical hemiatrophy C4022153 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 6 BXGD020885 Muscle fiber cytoplasmatic inclusion bodies C4022157 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 2 BXGD020886 Muscle fiber inclusion bodies C4022159 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 5 BXGD020887 Amyloidosis of peripheral nerves C4022162 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939;HP:0000707 Abnormality of metabolism/homeostasis; Abnormality of the nervous system T047 Disease or Syndrome 1 BXGD020888 EMG: myokymic discharges C4022166 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 1 BXGD020889 EMG: impaired neuromuscular transmission C4022168 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 11 BXGD020890 EMG: myotonic discharges C4022169 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 4 BXGD020891 Periauricular skin pits C4022171 disease Congenital Abnormality HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T019 Congenital Abnormality 5 BXGD020892 Stenosis of the medullary cavity of the long bones C4022179 disease Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 3 BXGD020893 Fragmented epiphyses C4022253 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD020894 Overfriendliness C4022386 phenotype Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 9 BXGD020895 Posterior capsular cataract C4022388 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD020896 Abnormality of the mediastinum C4022395 phenotype Anatomical Abnormality HP:0045027 Abnormality of the thoracic cavity T190 Anatomical Abnormality 12 BXGD020897 Abnormality of the substantia nigra C4022403 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 3 BXGD020898 Degeneration of the striatum C4022417 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 9 BXGD020899 Abnormal prolactin level C4022448 phenotype Finding HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T033 Finding 9 BXGD020900 Decreased adipose tissue C4022459 phenotype Sign or Symptom HP:0003549 Abnormality of connective tissue T184 Sign or Symptom 17 BXGD020901 Abnormality of the right hemidiaphragm C4022470 phenotype Anatomical Abnormality HP:0003011 Abnormality of the musculature T190 Anatomical Abnormality 1 BXGD020902 Onychogryposis of fingernail C4022477 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 4 BXGD020903 Chorioretinal hyperpigmentation C4022482 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD020904 Chorioretinal hypopigmentation C4022483 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD020905 Clinodactyly of the 4th finger C4022484 disease Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 2 BXGD020906 Prominent coccyx C4022490 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 6 BXGD020907 Increased mitochondrial number C4022492 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 2 BXGD020908 Decreased mitochondrial number C4022493 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 2 BXGD020909 Small posterior fossa C4022496 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 2 BXGD020910 Multinucleated giant chondrocytes in epiphyseal cartilage C4022506 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD020911 Accessory scrotum C4022543 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 1 BXGD020912 Reduced red cell adenosine deaminase activity C4022544 phenotype Finding HP:0001939;HP:0001871 Abnormality of metabolism/homeostasis; Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD020913 Reduced erythrocyte 2,3-diphosphoglycerate concentration C4022546 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 2 BXGD020914 Elevated red cell adenosine deaminase activity C4022547 phenotype Finding HP:0001939;HP:0001871 Abnormality of metabolism/homeostasis; Abnormality of blood and blood-forming tissues T033 Finding 3 BXGD020915 Hyperpigmented genitalia C4022554 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 3 BXGD020916 Splanchnic vein thrombosis C4022560 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 15 BXGD020917 Maternal first trimester fever C4022561 phenotype Finding HP:0001939;HP:0001197 Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth T033 Finding 1 BXGD020918 Abnormality of muscle size C4022563 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 1 BXGD020919 Central core regions in muscle fibers C4022568 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 2 BXGD020920 Limb apraxia C4022574 disease C23;C10;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 3 BXGD020921 Inertia C4022575 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD020922 Slow pupillary light response C4022576 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 4 BXGD020923 Favorable response of weakness to acetylcholine esterase inhibitors C4022581 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD020924 Fatiguable weakness of proximal limb muscles C4022583 phenotype Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 14 BXGD020925 Fatigable weakness of neck muscles C4022584 phenotype Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 13 BXGD020926 Fatigable weakness of distal limb muscles C4022585 phenotype Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 8 BXGD020927 Fatigable weakness of skeletal muscles C4022586 phenotype Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 8 BXGD020928 Fatigable weakness of respiratory muscles C4022587 phenotype Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 60 BXGD020929 Fatigable weakness of swallowing muscles C4022588 phenotype Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 39 BXGD020930 Fatigable weakness of speech muscles C4022589 phenotype Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 1 BXGD020931 Fatigable weakness of bulbar muscles C4022591 phenotype Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 14 BXGD020932 Oral motor hypotonia C4022592 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 3 BXGD020933 Tetraplegia/tetraparesis C4022595 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 2 BXGD020934 Abnormal liver parenchyma morphology C4022605 phenotype Anatomical Abnormality HP:0025031 Abnormality of the digestive system T190 Anatomical Abnormality 4 BXGD020935 Lack of bowel sounds C4022606 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 3 BXGD020936 Oral cavity bleeding C4022608 phenotype Pathologic Function HP:0001871;HP:0000152 Abnormality of blood and blood-forming tissues; Abnormality of head or neck T046 Pathologic Function 18 BXGD020937 Excessive bleeding from superficial cuts C4022610 phenotype Pathologic Function HP:0001871 Abnormality of blood and blood-forming tissues T046 Pathologic Function 2 BXGD020938 Prolonged bleeding following circumcision C4022611 phenotype Pathologic Function HP:0001871 Abnormality of blood and blood-forming tissues T046 Pathologic Function 5 BXGD020939 Absent muscle fiber calpain-3 C4022625 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 1 BXGD020940 Absent muscle fiber emerin C4022628 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 6 BXGD020941 Absent muscle fiber dysferlin C4022631 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 1 BXGD020942 Reduced muscle fiber alpha dystroglycan C4022646 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 10 BXGD020943 Reduced muscle fiber merosin C4022651 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 1 BXGD020944 Abnormal muscle fiber protein expression C4022653 phenotype Anatomical Abnormality HP:0003011 Abnormality of the musculature T190 Anatomical Abnormality 2 BXGD020945 Punctate periventricular T2 hyperintense foci C4022658 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD020946 Mitochondrial depletion C4022659 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 2 BXGD020947 Autoimmune antibody positivity C4022660 phenotype Laboratory or Test Result HP:0002715 Abnormality of the immune system T034 Laboratory or Test Result 5 BXGD020948 Abnormality of lateral ventricle C4022662 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 4 BXGD020949 Fused thoracic vertebrae C4022664 disease Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 1 BXGD020950 Isothenuria C4022665 disease Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 1 BXGD020951 Small toe C4022667 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD020952 Increased female libido C4022675 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 18 BXGD020953 Decreased female libido C4022676 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 4 BXGD020954 Lagopthalmos C4022680 disease Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 3 BXGD020955 Cold-sensitive myotonia C4022682 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 1 BXGD020956 Myotonia of the upper limb C4022683 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 2 BXGD020957 Myotonia of the lower limb C4022684 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 1 BXGD020958 Myotonia of the jaw C4022685 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 1 BXGD020959 Myotonia of the face C4022686 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 1 BXGD020960 Abnormal motor evoked potentials C4022687 phenotype Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 4 BXGD020961 Facial muscle hypertrophy C4022691 phenotype Finding HP:0000152;HP:0003011 Abnormality of head or neck; Abnormality of the musculature T033 Finding 1 BXGD020962 Abnormality of the labia majora C4022695 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 4 BXGD020963 Acephalic spermatozoa C4022698 disease Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 5 BXGD020964 Sperm head anomaly C4022702 phenotype C12 Male Urogenital Diseases Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 2 BXGD020965 Abnormal scrotal rugation C4022707 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 4 BXGD020966 Midshaft hypospadias C4022708 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 1 BXGD020967 Hypoplastic female external genitalia C4022715 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 3 BXGD020968 Abnormal upper to lower segment ratio C4022728 phenotype Anatomical Abnormality HP:0001507 Growth abnormality T190 Anatomical Abnormality 1 BXGD020969 Increased arm span C4022729 phenotype Finding HP:0040064 Abnormality of limbs T033 Finding 2 BXGD020970 Widened cerebral subarachnoid space C4022733 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 1 BXGD020971 Cerebral white matter atrophy C4022735 disease C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 20 BXGD020972 Impaired social reciprocity C4022736 disease Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 6 BXGD020973 Neurodevelopmental abnormality C4022737 phenotype Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 7 BXGD020974 Neurodevelopmental delay C4022738 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 39 BXGD020975 Abnormal neuron morphology C4022739 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 8 BXGD020976 Focal T2 hypointense basal ganglia lesion C4022744 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD020977 Abnormal basal ganglia MRI signal intensity C4022745 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 7 BXGD020978 Focal T2 hypointense brainstem lesion C4022747 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD020979 Focal T2 hyperintense brainstem lesion C4022748 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 33 BXGD020980 Abnormal brainstem MRI signal intensity C4022749 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD020981 Thin fingernail C4022750 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 2 BXGD020982 Ectopic anterior pituitary gland C4022751 disease Congenital Abnormality HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T019 Congenital Abnormality 7 BXGD020983 Episodic hypokalemia C4022754 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 5 BXGD020984 Functional abnormality of the gastrointestinal tract C4022755 phenotype Pathologic Function HP:0025031 Abnormality of the digestive system T046 Pathologic Function 7 BXGD020985 Profound hearing impairment C4022756 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000598 Abnormality of the ear T047 Disease or Syndrome 7 BXGD020986 Moderate hearing impairment C4022757 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding HP:0000598 Abnormality of the ear T033 Finding 2 BXGD020987 Mild hearing impairment C4022758 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding HP:0000598 Abnormality of the ear T033 Finding 6 BXGD020988 Reduced brain N-acetyl aspartate level by MRS C4022761 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 11 BXGD020989 Elevated brain lactate level by MRS C4022762 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 7 BXGD020990 Elevated brain choline level by MRS C4022763 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD020991 Abnormal metabolic brain imaging by MRS C4022764 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD020992 Abnormality of the subarachnoid space C4022765 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 3 BXGD020993 Abnormal large intestine physiology C4022766 phenotype Anatomical Abnormality HP:0025031 Abnormality of the digestive system T190 Anatomical Abnormality 3 BXGD020994 Small basal ganglia C4022769 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 10 BXGD020995 Abnormal thalamic MRI signal intensity C4022770 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD020996 Decreased thalamic volume C4022771 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 7 BXGD020997 Focal T2 hyperintense thalamic lesion C4022774 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD020998 Focal T2 hypointense thalamic lesion C4022775 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD020999 Reduced ejection fraction C4022792 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 18 BXGD021000 Parietal hypometabolism in FDG PET C4022794 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD021001 Abnormal brain FDG positron emission tomography C4022798 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 18 BXGD021002 Elevated CSF dopamine level C4022801 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD021003 Foveal hypopigmentation C4022807 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 4 BXGD021004 Cerebellar agenesis C4022808 disease Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 2 BXGD021005 Abnormality of nervous system morphology C4022810 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 13 BXGD021006 Abnormality of nervous system physiology C4022811 phenotype C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 6 BXGD021007 Abnormal urine sodium concentration C4022825 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 1 BXGD021008 Abnormal urine potassium concentration C4022829 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 1 BXGD021009 Mild proteinuria C4022832 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 1 BXGD021010 Increased T3/T4 ratio C4022846 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 2 BXGD021011 EEG with centrotemporal focal spike waves C4022848 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD021012 Absent thumbnail C4022849 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 15 BXGD021013 Abnormal involuntary eye movements C4022855 disease Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 6 BXGD021014 Reduced aldolase level C4022857 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD021015 Elevated aldolase level C4022858 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 5 BXGD021016 Maternal anticardiolipin antibody positive C4022860 phenotype Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 1 BXGD021017 Abnormal alpha granule content C4022863 phenotype Anatomical Abnormality HP:0001871 Abnormality of blood and blood-forming tissues T190 Anatomical Abnormality 1 BXGD021018 Abnormal platelet shape C4022866 disease Anatomical Abnormality HP:0001871 Abnormality of blood and blood-forming tissues T190 Anatomical Abnormality 1 BXGD021019 Spider hemangioma C4022867 disease Disease or Syndrome HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system T047 Disease or Syndrome 4 BXGD021020 Abnormal circle of Willis morphology C4022868 phenotype Anatomical Abnormality HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system T190 Anatomical Abnormality 4 BXGD021021 Reduced catalase activity C4022869 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD021022 Extra-axial cerebrospinal fluid accumulation C4022871 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD021023 Reduced thyroxin-binding globulin C4022872 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD021024 Small pituitary gland C4022873 disease Anatomical Abnormality HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T190 Anatomical Abnormality 7 BXGD021025 Abnormal size of pituitary gland C4022874 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Anatomical Abnormality HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T190 Anatomical Abnormality 1 BXGD021026 Descending aortic dissection C4022878 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 15 BXGD021027 Specific pneumococcal antibody deficiency C4022890 phenotype Finding HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T033 Finding 1 BXGD021028 Elevated hepatic iron concentration C4022891 phenotype Finding HP:0025031;HP:0001939 Abnormality of the digestive system; Abnormality of metabolism/homeostasis T033 Finding 5 BXGD021029 Elevated transferrin saturation C4022892 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 3 BXGD021030 Medial calcification of medium-sized arteries C4022895 phenotype Pathologic Function HP:0000924;HP:0001626 Abnormality of the skeletal system; Abnormality of the cardiovascular system T046 Pathologic Function 1 BXGD021031 Bilateral wrist flexion contracture C4022899 phenotype Anatomical Abnormality HP:0040064;HP:0000924;HP:0003549;HP:0003011 Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T190 Anatomical Abnormality 1 BXGD021032 Low CSF 5-methyltetrahydrofolate C4022901 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD021033 Delayed social development C4022906 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD021034 Cerebral white matter hypoplasia C4022908 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 8 BXGD021035 Excessive femoral anteversion C4022909 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD021036 Increased urine alpha-ketoglutarate concentration C4022915 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 3 BXGD021037 Abnormal aldolase level C4022916 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 16 BXGD021038 Appendicular hypotonia C4022919 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 8 BXGD021039 Abnormal enzyme/coenzyme activity C4022922 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 13 BXGD021040 Abnormal eye physiology C4022924 phenotype Pathologic Function HP:0000478 Abnormality of the eye T046 Pathologic Function 6 BXGD021041 Abnormal eye morphology C4022925 phenotype Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 1 BXGD021042 Abnormal glycosylation C4022946 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 6 BXGD021043 Decreased resting energy expenditure C4022947 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 12 BXGD021044 Slender proximal phalanx of finger C4022961 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021045 Slender distal phalanx of finger C4022962 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD021046 Abnormality of the occipital bone C4022964 phenotype Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD021047 Abnormal hypothalamus physiology C4022968 phenotype Pathologic Function HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T046 Pathologic Function 1 BXGD021048 Hyposerinemia C4022971 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 3 BXGD021049 Hypoglycinemia C4022973 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 2 BXGD021050 Increased carotid artery intimal medial thickness C4022977 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 1 BXGD021051 Episodic upper airway obstruction C4022978 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 1 BXGD021052 Decreased muscle glycogen content C4022979 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 2 BXGD021053 Abnormal ciliary motility C4022983 disease Anatomical Abnormality HP:0002086 Abnormality of the respiratory system T190 Anatomical Abnormality 9 BXGD021054 Absent inner and outer dynein arms C4022986 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 7 BXGD021055 Dynein arm defect of respiratory motile cilia C4022990 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 3 BXGD021056 Sex reversal C4022995 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 14 BXGD021057 Abnormal sex determination C4022996 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 15 BXGD021058 Arachnoid hemangiomatosis C4022998 phenotype C04 Neoplasms Finding HP:0002664;HP:0001626 Neoplasm; Abnormality of the cardiovascular system T033 Finding 15 BXGD021059 Increased serum bile acid concentration C4023004 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 5 BXGD021060 Juvenile colonic polyposis C4023006 disease Disease or Syndrome HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T047 Disease or Syndrome 2 BXGD021061 Increased erythrocyte protoporphyrin concentration C4023007 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD021062 Constrictive median neuropathy C4023009 disease C10 Nervous System Diseases Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 8 BXGD021063 Hyperplastic colonic polyposis C4023010 disease Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T191 Neoplastic Process 3 BXGD021064 Craniofacial dystonia C4023011 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 3 BXGD021065 Abnormal natural killer cell physiology C4023012 phenotype Pathologic Function HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T046 Pathologic Function 1 BXGD021066 Stereotypical body rocking C4023013 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 3 BXGD021067 Stereotypical hand wringing C4023014 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 8 BXGD021068 Subcortical cerebral atrophy C4023018 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 22 BXGD021069 Single lineage myelodysplasia C4023019 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0002664;HP:0001871 Neoplasm; Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 1 BXGD021070 Multiple lineage myelodysplasia C4023021 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0002664;HP:0001871 Neoplasm; Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 2 BXGD021071 Reduced quantity of Von Willebrand factor C4023022 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 2 BXGD021072 Abnormal megakaryocyte morphology C4023026 disease Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 10 BXGD021073 Granulocytic hyperplasia C4023028 disease Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 5 BXGD021074 Abnormal number of granulocyte precursors C4023029 phenotype Anatomical Abnormality HP:0001871 Abnormality of blood and blood-forming tissues T190 Anatomical Abnormality 2 BXGD021075 Dysplastic granulopoesis C4023030 disease Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 2 BXGD021076 Abnormal granulocytopoietic cell morphology C4023031 disease Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 2 BXGD021077 Dysplastic erythropoesis C4023032 disease Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 1 BXGD021078 Abnormality of bone marrow stromal cells C4023034 phenotype Anatomical Abnormality HP:0001871 Abnormality of blood and blood-forming tissues T190 Anatomical Abnormality 1 BXGD021079 Abnormal albumin level C4023036 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD021080 Parietal cortical atrophy C4023041 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 2 BXGD021081 Abnormality of the mitochondrion C4023042 disease Anatomical Abnormality HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T190 Anatomical Abnormality 10 BXGD021082 Intracranial epidermoid cyst C4023045 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 1 BXGD021083 Abnormality of endocrine pancreas physiology C4023047 phenotype Pathologic Function HP:0025031;HP:0000818 Abnormality of the digestive system; Abnormality of the endocrine system T046 Pathologic Function 4 BXGD021084 Abnormality of skeletal muscle fiber size C4023051 phenotype Anatomical Abnormality HP:0003011 Abnormality of the musculature T190 Anatomical Abnormality 8 BXGD021085 Ubiquitin-positive cerebral inclusion bodies C4023052 phenotype Laboratory or Test Result HP:0000707 Abnormality of the nervous system T034 Laboratory or Test Result 3 BXGD021086 Cerebellar Purkinje layer atrophy C4023053 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 2 BXGD021087 Abnormality of central motor conduction C4023055 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 1 BXGD021088 Chondroitin sulfate excretion in urine C4023059 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 1 BXGD021089 Keratan sulfate excretion in urine C4023060 phenotype Laboratory or Test Result HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T034 Laboratory or Test Result 3 BXGD021090 Increased urinary disaccharide excretion C4023062 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 1 BXGD021091 Low serum calcitriol C4023065 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 5 BXGD021092 Pectoralis amyotrophy C4023066 disease Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 1 BXGD021093 Sternocleidomastoid amyotrophy C4023067 disease Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 3 BXGD021094 Increased urinary cortisol level C4023068 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0000818 Abnormality of the endocrine system T033 Finding 8 BXGD021095 Abnormality of ornithine metabolism C4023070 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD021096 Hypergalactosemia C4023071 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 4 BXGD021097 EEG with temporal focal spikes C4023073 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD021098 EEG with parietal focal spikes C4023074 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD021099 Impaired neutrophil bactericidal activity C4023090 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 2 BXGD021100 Abnormality of neutrophil morphology C4023091 phenotype Anatomical Abnormality HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T190 Anatomical Abnormality 2 BXGD021101 Abnormality of neutrophil physiology C4023093 phenotype Pathologic Function HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T046 Pathologic Function 1 BXGD021102 Ectopic ossification in ligament tissue C4023094 disease C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021103 Ectopic ossification in tendon tissue C4023095 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0000924 Abnormality of the skeletal system T046 Pathologic Function 1 BXGD021104 Ectopic ossification in muscle tissue C4023096 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0000924 Abnormality of the skeletal system T046 Pathologic Function 2 BXGD021105 Elevated urinary dopamine C4023099 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 15 BXGD021106 Elevated circulating luteinizing hormone level C4023101 phenotype Finding HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T033 Finding 23 BXGD021107 Elevated plasma citrulline C4023102 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 2 BXGD021108 Intermittent painful muscle spasms C4023104 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 3 BXGD021109 Obstructive azoospermia C4023106 disease C12 Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 74 BXGD021110 Acute infectious pneumonia C4023112 disease Disease or Syndrome HP:0002715;HP:0002086 Abnormality of the immune system; Abnormality of the respiratory system T047 Disease or Syndrome 7 BXGD021111 Small vessel vasculitis C4023113 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 13 BXGD021112 Anterior wedging of L2 C4023114 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD021113 Hypoplastic fifth toenail C4023116 disease Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 12 BXGD021114 Decreased plasma total carnitine C4023117 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 2 BXGD021115 Abnormality of the superior cerebellar peduncle C4023120 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 1 BXGD021116 Abnormality of the cerebellar peduncle C4023121 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 1 BXGD021117 Hypersegmentation of proximal phalanx of third finger C4023122 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021118 Short digit C4023124 disease Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 4 BXGD021119 Reduced alpha/beta synthesis ratio C4023136 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 4 BXGD021120 Reduced beta/alpha synthesis ratio C4023137 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 3 BXGD021121 Impaired thromboxane A2 agonist-induced platelet aggregation C4023141 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD021122 Bleeding with minor or no trauma C4023143 phenotype Pathologic Function HP:0001871 Abnormality of blood and blood-forming tissues T046 Pathologic Function 3 BXGD021123 Abnormal umbilical stump bleeding C4023145 disease Anatomical Abnormality HP:0001871 Abnormality of blood and blood-forming tissues T190 Anatomical Abnormality 5 BXGD021124 Acute disseminated intravascular coagulation C4023149 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 1 BXGD021125 Decreased platelet glycoprotein Ib-IX-V C4023150 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 3 BXGD021126 Impaired ristocetin-induced platelet aggregation C4023154 phenotype Pathologic Function HP:0001871 Abnormality of blood and blood-forming tissues T046 Pathologic Function 6 BXGD021127 Elevated plasma pyrophosphate C4023157 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD021128 Reduced factor IX activity C4023159 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 5 BXGD021129 Abnormal bone ossification C4023161 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD021130 Abnormality of skeletal morphology C4023165 phenotype Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021131 Abnormality of T cell physiology C4023166 phenotype Pathologic Function HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T046 Pathologic Function 6 BXGD021132 Partial IgA deficiency C4023167 phenotype C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Finding HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T033 Finding 1 BXGD021133 Moyamoya phenomenon C4023169 disease Disease or Syndrome HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system T047 Disease or Syndrome 10 BXGD021134 Abnormal oral mucosa morphology C4023170 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 6 BXGD021135 Broad chin C4023172 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD021136 Submucous cleft soft palate C4023175 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 11 BXGD021137 Increased cerebral lipofuscin C4023177 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD021138 Paradoxical myotonia C4023179 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 1 BXGD021139 Type 1 muscle fiber atrophy C4023180 disease Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 16 BXGD021140 Activating thyroid-stimulating hormone receptor defect C4023188 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 1 BXGD021141 Thyroid hemiagenesis C4023190 disease C16;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 9 BXGD021142 Abnormality of the parathyroid physiology C4023198 disease Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 1 BXGD021143 Neoplasm of the anterior pituitary C4023205 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 6 BXGD021144 Glucocortocoid-insensitive primary hyperaldosteronism C4023208 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 3 BXGD021145 Adrenocorticotropin deficient adrenal insufficiency C4023211 disease Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 6 BXGD021146 Abnormality of circulating cortisol level C4023214 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 1 BXGD021147 Abnormality of central sensory function C4023215 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 4 BXGD021148 Abnormal electrophysiology of sinoatrial node origin C4023222 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 1 BXGD021149 Atrial reentry tachycardia C4023223 phenotype Pathologic Function HP:0001626 Abnormality of the cardiovascular system T046 Pathologic Function 2 BXGD021150 Patent ductus arteriosus after birth at term C4023249 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 4 BXGD021151 Short chordae tendineae of the mitral valve C4023288 disease Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 1 BXGD021152 Partial defect of atrioventricular canal C4023290 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 4 BXGD021153 Central opacification of the cornea C4023327 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 5 BXGD021154 Abnormality of corneal stroma C4023328 disease Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 1 BXGD021155 Abnormal Descemet membrane morphology C4023330 phenotype Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 2 BXGD021156 Profound sensorineural hearing impairment C4023338 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000598 Abnormality of the ear T047 Disease or Syndrome 10 BXGD021157 Childhood onset sensorineural hearing impairment C4023340 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0000598 Abnormality of the ear T047 Disease or Syndrome 1 BXGD021158 Gastrostomy tube feeding in infancy C4023342 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 38 BXGD021159 Nasogastric tube feeding in infancy C4023343 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 12 BXGD021160 Aganglionosis of the small intestine C4023346 phenotype Anatomical Abnormality HP:0025031;HP:0000707 Abnormality of the digestive system; Abnormality of the nervous system T190 Anatomical Abnormality 1 BXGD021161 Hyposegmentation of neutrophil nuclei C4023351 phenotype Cell or Molecular Dysfunction HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T049 Cell or Molecular Dysfunction 4 BXGD021162 Abnormality of higher mental function C4023352 phenotype Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 1 BXGD021163 Maternal teratogenic exposure C4023357 phenotype Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 5 BXGD021164 Maternal autoimmune disease C4023358 disease Disease or Syndrome HP:0001197 Abnormality of prenatal development or birth T047 Disease or Syndrome 1 BXGD021165 Abnormal maternal serum screening C4023359 phenotype Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 1 BXGD021166 Proportionate tall stature C4023371 phenotype Finding HP:0001507 Growth abnormality T033 Finding 1 BXGD021167 Tibialis atrophy C4023375 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 3 BXGD021168 Abnormality of the dorsal column of the spinal cord C4023376 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 2 BXGD021169 Narrow internal auditory canal C4023383 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 14 BXGD021170 Aplasia of the semicircular canal C4023385 disease Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 16 BXGD021171 Morphological abnormality of the semicircular canal C4023386 disease Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 4 BXGD021172 Incomplete partition of the cochlea C4023392 disease Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 2 BXGD021173 Recurrent viral skin infections C4023393 phenotype Finding HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T033 Finding 1 BXGD021174 Abnormality of hair growth rate C4023396 disease Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD021175 Abnormal hair quantity C4023397 disease Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 29 BXGD021176 Generalized hypopigmentation of hair C4023400 disease Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 6 BXGD021177 Abnormality of hair density C4023401 disease Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 4 BXGD021178 Regional abnormality of skin C4023402 disease Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 4 BXGD021179 Arterial intimal fibrosis C4023403 disease Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 1 BXGD021180 Abnormality of ocular abduction C4023405 phenotype Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 1 BXGD021181 Abnormality of mouth size C4023408 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 3 BXGD021182 Hemifacial hypoplasia C4023411 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 2 BXGD021183 Unicoronal synostosis C4023418 disease Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 5 BXGD021184 Long palm C4023422 phenotype Finding HP:0040064 Abnormality of limbs T033 Finding 5 BXGD021185 Recurrent mycobacterial infections C4023438 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 9 BXGD021186 Absent tragus C4023439 disease Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 1 BXGD021187 Cleft earlobe C4023440 disease Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 3 BXGD021188 Absent antitragus C4023443 disease Congenital Abnormality HP:0000598 Abnormality of the ear T019 Congenital Abnormality 1 BXGD021189 Prominent eyelashes C4023450 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 3 BXGD021190 Laterally extended eyebrow C4023451 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 2 BXGD021191 Elevated C-reactive protein level C4023452 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 28 BXGD021192 Metopic depression C4023454 disease Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021193 Short face C4023457 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 6 BXGD021194 Abnormal shape of the frontal region C4023458 phenotype Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021195 EEG with continuous slow activity C4023470 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 10 BXGD021196 EEG with abnormally slow frequencies C4023471 phenotype Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 3 BXGD021197 EEG with generalized epileptiform discharges C4023476 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 6 BXGD021198 EEG with focal spike waves C4023477 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD021199 EEG with focal sharp waves C4023478 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD021200 EEG with focal sharp slow waves C4023479 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 6 BXGD021201 Uni- and bilateral multifocal epileptiform discharges C4023484 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 14 BXGD021202 Focal EEG discharges with secondary generalization C4023486 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD021203 Interictal epileptiform activity C4023491 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD021204 Generalized clonic seizures C4023499 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 18 BXGD021205 Focal myoclonic seizures C4023501 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 4 BXGD021206 Obtundation status C4023511 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 12 BXGD021207 Myoclonic absences C4023512 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 2 BXGD021208 Abnormality of skin adnexa morphology C4023518 phenotype Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 2 BXGD021209 Chronic furunculosis C4023521 disease Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T047 Disease or Syndrome 4 BXGD021210 Bilateral fetal pyelectasis C4023523 disease C16;C13 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome HP:0001197;HP:0000119 Abnormality of prenatal development or birth; Abnormality of the genitourinary system T047 Disease or Syndrome 2 BXGD021211 Abnormality of skin morphology C4023528 phenotype C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 16 BXGD021212 Defective production of NFKB1-dependent cytokines C4023533 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 1 BXGD021213 Incisor macrodontia C4023544 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 1 BXGD021214 Abnormality of canine C4023546 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 3 BXGD021215 Abnormality of dental color C4023551 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 11 BXGD021216 Localized periodontitis C4023559 disease C07 Stomatognathic Diseases Disease or Syndrome HP:0002715;HP:0000152 Abnormality of the immune system; Abnormality of head or neck T047 Disease or Syndrome 2 BXGD021217 Generalized periodontitis C4023560 disease C07 Stomatognathic Diseases Disease or Syndrome HP:0002715;HP:0000152 Abnormality of the immune system; Abnormality of head or neck T047 Disease or Syndrome 15 BXGD021218 Abnormal number of permanent teeth C4023573 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 9 BXGD021219 Abnormality of circulating adrenocorticotropin level C4023574 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 6 BXGD021220 Abnormality of the intrahepatic bile duct C4023577 disease Anatomical Abnormality HP:0025031 Abnormality of the digestive system T190 Anatomical Abnormality 10 BXGD021221 Abnormality of renal excretion C4023579 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 2 BXGD021222 Abnormality of iron homeostasis C4023583 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 5 BXGD021223 Abnormality of the gastrointestinal tract C4023588 phenotype C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality HP:0025031 Abnormality of the digestive system T190 Anatomical Abnormality 14 BXGD021224 Abnormality of circulating enzyme level C4023591 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 6 BXGD021225 Abnormality of carbohydrate metabolism/homeostasis C4023599 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD021226 Abnormal corpus striatum morphology C4023607 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 5 BXGD021227 Abnormality of the intrinsic pathway C4023610 phenotype C15 Hemic and Lymphatic Diseases Anatomical Abnormality HP:0001871 Abnormality of blood and blood-forming tissues T190 Anatomical Abnormality 4 BXGD021228 Abnormality of cellular immune system C4023612 phenotype Anatomical Abnormality HP:0002715 Abnormality of the immune system T190 Anatomical Abnormality 4 BXGD021229 Abnormality of immune system physiology C4023616 phenotype Pathologic Function HP:0002715 Abnormality of the immune system T046 Pathologic Function 42 BXGD021230 Blood group antigen abnormality C4023620 phenotype Anatomical Abnormality HP:0001871 Abnormality of blood and blood-forming tissues T190 Anatomical Abnormality 8 BXGD021231 Mild fetal ventriculomegaly C4023628 disease Anatomical Abnormality HP:0001197;HP:0000707 Abnormality of prenatal development or birth; Abnormality of the nervous system T190 Anatomical Abnormality 1 BXGD021232 Echogenic intracardiac focus C4023634 phenotype Finding HP:0001197;HP:0001626 Abnormality of prenatal development or birth; Abnormality of the cardiovascular system T033 Finding 1 BXGD021233 Aplasia/Hypoplasia of the nasal bone C4023636 phenotype Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021234 Abnormality of the nasal bone C4023637 phenotype Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021235 Abnormality of the upper urinary tract C4023641 phenotype Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 4 BXGD021236 Hyperisoleucinemia C4023657 disease Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 1 BXGD021237 Increased nuchal translucency C4023676 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001939;HP:0001197 Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth T033 Finding 30 BXGD021238 Monocular strabismus C4023678 phenotype C11;C10 Eye Diseases; Nervous System Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 2 BXGD021239 Delayed fine motor development C4023681 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 19 BXGD021240 EEG with spike-wave complexes C4023683 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 23 BXGD021241 EEG with spike-wave complexes (>3.5 Hz) C4023684 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD021242 EEG with spike-wave complexes (2.5-3.5 Hz) C4023685 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 6 BXGD021243 EEG with multifocal slow activity C4023687 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 41 BXGD021244 Spontaneous pain sensation C4023690 phenotype Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 1 BXGD021245 Abnormality of pain sensation C4023691 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 6 BXGD021246 Abnormal position of hair whorl C4023694 phenotype Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 1 BXGD021247 Everted upper lip vermilion C4023698 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 12 BXGD021248 Impaired visuospatial constructive cognition C4023701 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 15 BXGD021249 Abnormality of the Leydig cells C4023703 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 4 BXGD021250 Palmar hyperkeratosis C4023710 disease Disease or Syndrome HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T047 Disease or Syndrome 6 BXGD021251 Spontaneous rupture of the globe C4023719 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 1 BXGD021252 Abnormal hair pattern C4023721 disease Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 15 BXGD021253 Abnormality of hair texture C4023722 disease Finding HP:0001574 Abnormality of the integument T033 Finding 15 BXGD021254 1-5 finger syndactyly C4023728 disease Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 3 BXGD021255 4-5 finger syndactyly C4023731 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD021256 Sutural cataract C4023734 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 5 BXGD021257 Abnormality of the zygomatic bone C4023749 phenotype Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021258 Abnormality of the diencephalon C4023752 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 10 BXGD021259 Flat nasal alae C4023759 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 8 BXGD021260 Elevated alkaline phosphatase of hepatic origin C4023764 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 3 BXGD021261 Elevated levels of phytanic acid C4023786 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 15 BXGD021262 Abnormality of the clivus C4023791 phenotype Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021263 Paraplegia/paraparesis C4023792 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 6 BXGD021264 Aplasia/Hypoplasia of the thymus C4023796 disease Anatomical Abnormality HP:0000818;HP:0002715;HP:0001626 Abnormality of the endocrine system; Abnormality of the immune system; Abnormality of the cardiovascular system T190 Anatomical Abnormality 6 BXGD021265 Fibular bowing C4023801 disease C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 9 BXGD021266 Hyperextensibility of the knee C4023802 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD021267 Hypertrophy of the lower limb C4023803 disease Anatomical Abnormality HP:0040064 Abnormality of limbs T190 Anatomical Abnormality 1 BXGD021268 Hyperextensibility at elbow C4023808 phenotype Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 11 BXGD021269 Aplasia of the bladder C4023812 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 4 BXGD021270 Oligosacchariduria C4023815 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 2 BXGD021271 Aplasia/Hypoplasia of the testes C4023817 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 1 BXGD021272 Aplasia/Hypoplasia of the abdominal wall musculature C4023909 phenotype Finding HP:0025031;HP:0003011 Abnormality of the digestive system; Abnormality of the musculature T033 Finding 32 BXGD021273 Aplasia/Hypoplasia of the breasts C4023911 phenotype Finding HP:0000769 Abnormality of the breast T033 Finding 16 BXGD021274 Abnormally low-pitched voice C4023915 disease Anatomical Abnormality HP:0001608 Abnormality of the voice T190 Anatomical Abnormality 14 BXGD021275 Aplasia/Hypoplasia of the tongue C4023916 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 19 BXGD021276 Aplasia/Hypoplasia of the uvula C4023917 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 22 BXGD021277 Short hard palate C4023918 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 7 BXGD021278 Oral synechia C4023921 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 3 BXGD021279 Enlarged epiphyses of the proximal phalanges of the hand C4023930 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021280 Enlarged epiphyses of the distal phalanges of the hand C4023950 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021281 Structural foot deformity C4023965 phenotype C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064 Abnormality of limbs T190 Anatomical Abnormality 5 BXGD021282 Broad phalanx of the toes C4023986 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 17 BXGD021283 Aplasia/Hypoplasia of the phalanges of the toes C4023987 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD021284 Ivory epiphyses of the toes C4023991 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021285 Aplasia/Hypoplasia of the phalanges of the hallux C4024079 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD021286 Abnormality of the first metatarsal bone C4024082 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021287 Broad 1st metacarpal C4024097 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD021288 Aplasia/Hypoplasia of the 1st metacarpal C4024098 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD021289 Cone-shaped epiphysis of the 1st metacarpal C4024106 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021290 Asymmetry of the mouth C4024153 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 1 BXGD021291 Sunken cheeks C4024154 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 3 BXGD021292 Aplasia/Hypoplasia involving the nose C4024159 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 8 BXGD021293 Prominent ear helix C4024165 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 4 BXGD021294 Crumpled ear C4024166 disease Finding HP:0000598 Abnormality of the ear T033 Finding 6 BXGD021295 Abnormality of the antitragus C4024167 disease Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 7 BXGD021296 Thickened ears C4024168 disease Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 7 BXGD021297 Localized hirsutism C4024170 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 2 BXGD021298 Abnormality of secondary sexual hair C4024171 disease Finding HP:0001574 Abnormality of the integument T033 Finding 7 BXGD021299 Abnormality of hair pigmentation C4024172 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 5 BXGD021300 Broad distal phalanges of all fingers C4024174 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD021301 Triangular shaped distal phalanges of the hand C4024176 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021302 Low-output congestive heart failure C4024201 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 3 BXGD021303 Reduced number of teeth C4024202 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 67 BXGD021304 Aplasia of the pectoralis major muscle C4024213 disease Anatomical Abnormality HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T190 Anatomical Abnormality 5 BXGD021305 Aplasia of the parotid gland C4024215 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 3 BXGD021306 Tibial pseudoarthrosis C4024216 disease C26 Wounds and Injuries Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021307 Spinal neurofibromas C4024217 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process HP:0001574;HP:0000707;HP:0002664 Abnormality of the integument; Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 1 BXGD021308 Hypomelanotic macule C4024220 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 4 BXGD021309 Papillary cystadenoma of the epididymis C4024221 disease Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm T191 Neoplastic Process 6 BXGD021310 Abnormality of the epididymis C4024222 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 2 BXGD021311 Spinal hemangioblastoma C4024223 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 2 BXGD021312 Chronic CSF lymphocytosis C4024229 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 7 BXGD021313 Contracture of the distal interphalangeal joint of the fingers C4024230 phenotype Finding HP:0040064;HP:0000924;HP:0003549;HP:0003011 Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature T033 Finding 1 BXGD021314 Stippling of the epiphysis of the distal phalanx of the thumb C4024235 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021315 Peripheral Schwannoma C4024276 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process HP:0001574;HP:0000707;HP:0002664 Abnormality of the integument; Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 4 BXGD021316 Triangular shaped middle phalanx of the 2nd finger C4024283 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD021317 Abnormality of the hairline C4024297 disease Anatomical Abnormality HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T190 Anatomical Abnormality 2 BXGD021318 Triangular epiphysis of the middle phalanx of the 2nd finger C4024310 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021319 Enlarged epiphysis of the middle phalanx of the 2nd finger C4024317 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021320 Deviation of the hand or of fingers of the hand C4024338 phenotype C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064 Abnormality of limbs T190 Anatomical Abnormality 2 BXGD021321 Radial deviation of the 3rd finger C4024345 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD021322 Triangular shaped proximal phalanx of the 3rd finger C4024349 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021323 Triangular shaped middle phalanx of the 3rd finger C4024362 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021324 Enlarged epiphysis of the middle phalanx of the 3rd finger C4024441 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021325 Radial deviation of the 4th finger C4024473 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021326 Aplasia/Hypoplasia of the distal phalanx of the 5th finger C4024507 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 10 BXGD021327 Triangular shaped middle phalanx of the 5th finger C4024552 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD021328 Osteolysis involving bones of the feet C4024579 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T047 Disease or Syndrome 2 BXGD021329 Increased adipose tissue C4024583 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0003549 Abnormality of connective tissue T033 Finding 5 BXGD021330 Aplasia/Hypoplasia of the mandible C4024589 phenotype Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 19 BXGD021331 Abnormal ossification involving the femoral head and neck C4024595 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD021332 Aplasia/Hypoplasia involving the pelvis C4024597 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 8 BXGD021333 Chronic oral candidiasis C4024599 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T047 Disease or Syndrome 8 BXGD021334 Weakness of long finger extensor muscles C4024601 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 18 BXGD021335 Atrophy of quadriceps femoris muscle C4024603 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T046 Pathologic Function 3 BXGD021336 Generalized weakness of limb muscles C4024605 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 6 BXGD021337 Loss of gluteal subcutaneous adipose tissue C4024606 phenotype Finding HP:0003549 Abnormality of connective tissue T033 Finding 4 BXGD021338 Exercise-induced leg cramps C4024607 phenotype Sign or Symptom HP:0003011 Abnormality of the musculature T184 Sign or Symptom 1 BXGD021339 Necrotizing myopathy C4024608 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 8 BXGD021340 Decreased activity of mitochondrial respiratory chain C4024609 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 34 BXGD021341 Leg muscle stiffness C4024610 phenotype Sign or Symptom HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T184 Sign or Symptom 13 BXGD021342 Nonprogressive muscular atrophy C4024611 disease Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 1 BXGD021343 Tibialis muscle weakness C4024612 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 5 BXGD021344 Progressive distal muscular atrophy C4024613 disease Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 5 BXGD021345 Adipose tissue loss C4024615 phenotype Finding HP:0003549 Abnormality of connective tissue T033 Finding 3 BXGD021346 Hypoplastic ischiopubic rami C4024617 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD021347 Large iliac wings C4024618 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 6 BXGD021348 Widened sacrosciatic notch C4024620 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021349 Aplasia/Hypoplasia of the external ear C4024626 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 4 BXGD021350 Aplasia of the epiglottis C4024628 disease Congenital Abnormality HP:0002086 Abnormality of the respiratory system T019 Congenital Abnormality 2 BXGD021351 Partially duplicated kidney C4024630 phenotype Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 4 BXGD021352 Renal hypophosphatemia C4024631 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 3 BXGD021353 Gonadal dysgenesis with female appearance, male C4024632 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 2 BXGD021354 Aplasia/hypoplasia of the uterus C4024640 phenotype C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 8 BXGD021355 Enlarged polycystic ovaries C4024641 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 18 BXGD021356 Multiple small medullary renal cysts C4024644 disease Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 6 BXGD021357 Aplasia/Hypoplasia of the fallopian tube C4024646 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 2 BXGD021358 Congenital macroorchidism C4024650 disease Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 1 BXGD021359 Underfolded superior helices C4024655 disease Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 2 BXGD021360 Absent vestibular function C4024656 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 2 BXGD021361 Aplasia/Hypoplasia of the sacrum C4024660 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 4 BXGD021362 Moderate sensorineural hearing impairment C4024664 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding HP:0000598 Abnormality of the ear T033 Finding 34 BXGD021363 Congenital craniofacial dysostosis C4024667 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 3 BXGD021364 Asymmetry of spinal facet joints C4024669 phenotype Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 5 BXGD021365 Anterior wedging of L1 C4024677 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021366 Punctate vertebral calcifications C4024678 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021367 Onychogryposis of toenails C4024679 disease Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 2 BXGD021368 Hypoplastic fifth fingernail C4024682 disease Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 11 BXGD021369 Abnormality of vitamin A metabolism C4024686 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD021370 Abnormality of the calcaneus C4024689 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021371 Reduced factor XIII activity C4024692 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 5 BXGD021372 Increased red cell sickling tendency C4024695 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD021373 Elevated plasma branched chain amino acids C4024697 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 4 BXGD021374 Diaminoaciduria C4024698 disease Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T047 Disease or Syndrome 1 BXGD021375 Elevated creatine kinase after exercise C4024700 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 7 BXGD021376 Reduced von Willebrand factor activity C4024701 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 2 BXGD021377 Reduced factor X activity C4024702 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 3 BXGD021378 Decreased activity of mitochondrial complex II C4024705 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 7 BXGD021379 Spinal cord posterior columns myelin loss C4024706 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD021380 Transient hypophosphatemia C4024709 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 4 BXGD021381 Cerebellar cortical atrophy C4024710 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 9 BXGD021382 Transient aminoaciduria C4024713 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 1 BXGD021383 Secondary growth hormone deficiency C4024716 disease Disease or Syndrome HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T047 Disease or Syndrome 11 BXGD021384 Adrenocortical hypoplasia C4024719 disease Anatomical Abnormality HP:0000818 Abnormality of the endocrine system T190 Anatomical Abnormality 2 BXGD021385 Reduced factor VII activity C4024722 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 4 BXGD021386 Decreased proportion circulating T-helper cells C4024723 phenotype C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD021387 Mucopolysacchariduria C4024726 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 8 BXGD021388 Impaired epinephrine-induced platelet aggregation C4024727 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD021389 Delayed calcaneal ossification C4024728 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD021390 Distal tapering of metatarsals C4024729 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021391 Calcaneonavicular fusion C4024730 phenotype C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD021392 Ankylosis of feet small joints C4024732 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T047 Disease or Syndrome 1 BXGD021393 Abnormality of the fifth metatarsal bone C4024733 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021394 Low maternal serum estriol C4024734 phenotype Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 2 BXGD021395 Maternal virilization in pregnancy C4024735 phenotype Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 2 BXGD021396 Abnormally lax or hyperextensible skin C4024736 phenotype Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 3 BXGD021397 Aplasia/Hypoplasia of the skin C4024737 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 29 BXGD021398 Aplasia/Hypoplasia of the lens C4024738 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 2 BXGD021399 Aplasia/Hypoplasia of the macula C4024742 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 11 BXGD021400 Aplasia/Hypoplasia of the optic nerve C4024743 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD021401 Aplasia/Hypoplasia affecting the eye C4024745 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 4 BXGD021402 Aplasia/Hypoplasia of the iris C4024748 disease Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 52 BXGD021403 Abnormality of the palpebral fissures C4024750 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 2 BXGD021404 Abnormality of the extraocular muscles C4024751 phenotype Anatomical Abnormality HP:0000152;HP:0003011 Abnormality of head or neck; Abnormality of the musculature T190 Anatomical Abnormality 4 BXGD021405 Abnormality of macular pigmentation C4024756 disease Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 25 BXGD021406 Intraretinal exudate C4024758 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD021407 Macular hypopigmentation C4024759 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 2 BXGD021408 Progressive visual field defects C4024760 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 7 BXGD021409 Pattern dystrophy of the retina C4024762 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 4 BXGD021410 Optic atrophy from cranial nerve compression C4024763 phenotype C11;C10 Eye Diseases; Nervous System Diseases Pathologic Function HP:0000707;HP:0000478 Abnormality of the nervous system; Abnormality of the eye T046 Pathologic Function 4 BXGD021411 Peripapillary chorioretinal atrophy C4024765 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 2 BXGD021412 Dense posterior cortical cataract C4024767 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD021413 Intermittent microsaccadic pursuits C4024768 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 2 BXGD021414 Abnormal flash visual evoked potentials C4024772 disease Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 2 BXGD021415 Almond-shaped palpebral fissure C4024780 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 40 BXGD021416 Amyloid deposition in the vitreous humor C4024784 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD021417 Anterior chamber synechiae C4024788 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 2 BXGD021418 Nonprogressive restrictive external ophthalmoplegia C4024789 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 1 BXGD021419 Adult-onset night blindness C4024790 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 5 BXGD021420 Nodular corneal dystrophy C4024792 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD021421 Horizontal supranuclear gaze palsy C4024794 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 3 BXGD021422 Nongranulomatous uveitis C4024795 disease C11 Eye Diseases Disease or Syndrome HP:0002715;HP:0000478 Abnormality of the immune system; Abnormality of the eye T047 Disease or Syndrome 14 BXGD021423 Punctate corneal dystrophy C4024796 disease Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 1 BXGD021424 Granular macular appearance C4024799 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 8 BXGD021425 Chorioretinal dysplasia C4024809 disease Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 21 BXGD021426 Chronic irritative conjunctivitis C4024810 disease C11 Eye Diseases Disease or Syndrome HP:0002715;HP:0000152;HP:0000478;HP:0001626 Abnormality of the immune system; Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system T047 Disease or Syndrome 2 BXGD021427 Peripheral vitreous opacities C4024811 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 2 BXGD021428 Progressive night blindness C4024818 phenotype C11 Eye Diseases Finding HP:0000478 Abnormality of the eye T033 Finding 87 BXGD021429 Diffuse nuclear cataract C4024821 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 1 BXGD021430 Lacrimal gland aplasia C4024822 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 3 BXGD021431 Pigmentation anomalies of sun-exposed skin C4024826 phenotype Pathologic Function HP:0001574 Abnormality of the integument T046 Pathologic Function 1 BXGD021432 Nevus flammeus nuchae C4024829 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 2 BXGD021433 Blotching pigmentation of the skin C4024831 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 2 BXGD021434 Generalized reticulate brown pigmentation C4024836 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD021435 Generalized bronze hyperpigmentation C4024842 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD021436 Late onset atopic dermatitis C4024843 disease C16;C17;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T047 Disease or Syndrome 2 BXGD021437 Generalized seborrheic dermatitis C4024844 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T047 Disease or Syndrome 1 BXGD021438 Absent pigmentation of the ventral chest C4024848 disease Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 2 BXGD021439 Punctate palmoplantar hyperkeratosis C4024851 disease Disease or Syndrome HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T047 Disease or Syndrome 2 BXGD021440 Increased number of skin folds C4024853 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 3 BXGD021441 Irregular hyperpigmentation of back C4024854 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD021442 Lack of subcutaneous fatty tissue C4024855 phenotype Finding T033 Finding 1 BXGD021443 Progressive hyperpigmentation C4024859 phenotype C17 Skin and Connective Tissue Diseases Pathologic Function HP:0001574 Abnormality of the integument T046 Pathologic Function 1 BXGD021444 Recurrent staphylococcal infections C4024862 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 2 BXGD021445 Diffuse skin atrophy C4024863 disease Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 3 BXGD021446 Depigmentation/hyperpigmentation of skin C4024864 disease Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 3 BXGD021447 Perifollicular hyperkeratosis C4024867 disease Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 4 BXGD021448 Generalized anhidrosis C4024869 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD021449 Prominent veins on trunk C4024871 phenotype Finding HP:0001574;HP:0001626 Abnormality of the integument; Abnormality of the cardiovascular system T033 Finding 4 BXGD021450 Progressive reticulate hyperpigmentation C4024872 disease Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 1 BXGD021451 Palmoplantar blistering C4024876 phenotype Finding HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T033 Finding 4 BXGD021452 Hyperpigmented/hypopigmented macules C4024877 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 5 BXGD021453 Generalized hyperpigmentation C4024878 phenotype C17 Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 42 BXGD021454 Few cafe-au-lait spots C4024881 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding HP:0001574 Abnormality of the integument T033 Finding 3 BXGD021455 Telangiectasia of the oral mucosa C4024882 disease Anatomical Abnormality HP:0001574;HP:0000152;HP:0001626 Abnormality of the integument; Abnormality of head or neck; Abnormality of the cardiovascular system T190 Anatomical Abnormality 1 BXGD021456 Hyperextensible skin of face C4024883 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 2 BXGD021457 Asymmetric, linear skin defects C4024888 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 3 BXGD021458 Excessive wrinkled skin C4024890 phenotype Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 25 BXGD021459 Congenital exfoliative erythroderma C4024892 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T047 Disease or Syndrome 6 BXGD021460 Atrophy/Degeneration involving the caudate nucleus C4024895 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 3 BXGD021461 Motor neuron atrophy C4024896 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 138 BXGD021462 Atrophy/Degeneration involving the corticospinal tracts C4024897 phenotype Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 8 BXGD021463 Atrophy/Degeneration affecting the brainstem C4024900 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 27 BXGD021464 Abnormality of the pons C4024905 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 7 BXGD021465 Hemifacial seizures C4024906 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 4 BXGD021466 Mixed demyelinating and axonal polyneuropathy C4024907 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 1 BXGD021467 Rapid neurologic deterioration C4024908 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD021468 Acute infantile spinal muscular atrophy C4024911 disease C10 Nervous System Diseases Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 3 BXGD021469 Occipital myelomeningocele C4024912 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 9 BXGD021470 Decreased number of small peripheral myelinated nerve fibers C4024916 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD021471 Congenital encephalopathy C4024917 disease C10 Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 3 BXGD021472 Recurrent subcortical infarcts C4024918 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 2 BXGD021473 Spinocerebellar tract disease in lower limbs C4024919 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 1 BXGD021474 Decreased distal sensory nerve action potential C4024920 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD021475 Lower limb amyotrophy C4024921 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 19 BXGD021476 Diffuse white matter abnormalities C4024923 disease C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 34 BXGD021477 Cerebral artery atherosclerosis C4024924 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system T047 Disease or Syndrome 6 BXGD021478 Focal T2 hyperintense basal ganglia lesion C4024926 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 46 BXGD021479 Peripheral hypomyelination C4024927 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 7 BXGD021480 Absent smooth pursuit C4024928 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 3 BXGD021481 Slowed slurred speech C4024929 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 5 BXGD021482 Diffuse demyelination of the cerebral white matter C4024930 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 2 BXGD021483 Acute demyelinating polyneuropathy C4024933 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 1 BXGD021484 Cerebellar medulloblastoma C4024934 disease C04 Neoplasms Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 13 BXGD021485 Subcortical dementia C4024935 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 3 BXGD021486 Temporal cortical atrophy C4024936 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 13 BXGD021487 Chronic hepatic encephalopathy C4024937 disease C06;C18;C10 Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 1 BXGD021488 Dilated third ventricle C4024941 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD021489 Late-onset muscular dystrophy C4024942 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 8 BXGD021490 Decreased amplitude of sensory action potentials C4024943 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD021491 Profound static encephalopathy C4024944 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 2 BXGD021492 Generalized cerebral atrophy/hypoplasia C4024945 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 14 BXGD021493 Focal white matter lesions C4024946 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0000707 Abnormality of the nervous system T033 Finding 14 BXGD021494 Symmetric lesions of the basal ganglia C4024947 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 1 BXGD021495 Anterior encephalocele C4024948 disease Congenital Abnormality HP:0000707;HP:0000152;HP:0000924 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 3 BXGD021496 Generalized hyperreflexia C4024949 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 12 BXGD021497 Nonprogressive encephalopathy C4024950 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 1 BXGD021498 Cavitation of the basal ganglia C4024952 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 1 BXGD021499 Grammar-specific speech disorder C4024956 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 10 BXGD021500 Proximal spinal muscular atrophy C4024957 disease C10 Nervous System Diseases Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 10 BXGD021501 Frontoparietal cortical dysplasia C4024959 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 1 BXGD021502 Unilateral polymicrogyria C4024960 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 2 BXGD021503 Metachromatic leukodystrophy variant C4024961 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 3 BXGD021504 Axial muscle stiffness C4024962 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 1 BXGD021505 Abnormal aggressive, impulsive or violent behavior C4024963 phenotype F01 Behavior and Behavior Mechanisms Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 2 BXGD021506 Frontal cortical atrophy C4024965 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 8 BXGD021507 Impaired thermal sensitivity C4024968 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 3 BXGD021508 Posterior leukoencephalopathy C4024975 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 1 BXGD021509 Episodic generalized hypotonia C4024976 disease Anatomical Abnormality HP:0003011 Abnormality of the musculature T190 Anatomical Abnormality 1 BXGD021510 Ovarian papillary adenocarcinoma C4024979 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm T191 Neoplastic Process 7 BXGD021511 Localized neuroblastoma C4024981 disease C04 Neoplasms Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 5 BXGD021512 Diffuse leiomyomatosis C4024984 disease C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm T191 Neoplastic Process 2 BXGD021513 Congenital neuroblastoma C4024986 disease C04 Neoplasms Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 2 BXGD021514 Intestinal carcinoid C4024988 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0000818;HP:0000707;HP:0002664 Abnormality of the digestive system; Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 4 BXGD021515 Hereditary nonpolyposis colorectal carcinoma C4024989 disease C16;C06;C04;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T191 Neoplastic Process 28 BXGD021516 Aplasia/Hypoplasia of the clavicles C4024993 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 5 BXGD021517 Abnormality of the hepatic vasculature C4024994 phenotype Anatomical Abnormality HP:0025031;HP:0001626 Abnormality of the digestive system; Abnormality of the cardiovascular system T190 Anatomical Abnormality 3 BXGD021518 Aplasia/Hypoplasia of the lungs C4024996 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 29 BXGD021519 Myocardial steatosis C4025000 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 6 BXGD021520 Short chordae tendineae of the tricuspid valve C4025001 disease Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 1 BXGD021521 Pulmonic valve myxoma C4025002 disease Neoplastic Process HP:0001626 Abnormality of the cardiovascular system T191 Neoplastic Process 1 BXGD021522 Ventricular preexcitation with multiple accessory pathways C4025004 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 1 BXGD021523 Reduced systolic function C4025008 phenotype C14 Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 8 BXGD021524 Impaired myocardial contractility C4025009 disease Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 2 BXGD021525 Coat hanger sign of ribs C4025010 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021526 Fatal liver failure in infancy C4025017 phenotype C06 Digestive System Diseases Finding HP:0025031 Abnormality of the digestive system T033 Finding 3 BXGD021527 Acute hepatic steatosis C4025020 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 2 BXGD021528 Increased hepatocellular lipid droplets C4025021 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 14 BXGD021529 Aplasia/Hypoplasia involving the carpal bones C4025033 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD021530 Abnormality of femoral epiphysis C4025034 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021531 Abnormality of the tibial metaphysis C4025038 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD021532 Abnormality of the femoral metaphysis C4025040 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD021533 Abnormality of the pancreatic islet cells C4025043 disease Anatomical Abnormality HP:0025031;HP:0000818 Abnormality of the digestive system; Abnormality of the endocrine system T190 Anatomical Abnormality 6 BXGD021534 Proximal femoral metaphyseal abnormality C4025047 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021535 Distal tapering femur C4025049 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021536 Agenesis of mandibular central incisor C4025054 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 1 BXGD021537 Failure of eruption of permanent teeth C4025056 disease C07 Stomatognathic Diseases Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 5 BXGD021538 Peg-shaped maxillary lateral incisors C4025060 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 11 BXGD021539 Supernumerary maxillary incisor C4025062 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 5 BXGD021540 Multiple unerupted teeth C4025069 phenotype C07 Stomatognathic Diseases Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD021541 Aplasia/Hypoplasia of fingers C4025071 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 22 BXGD021542 Aplasia/Hypoplasia of the 5th finger C4025074 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021543 Abnormality of hand joint mobility C4025076 phenotype C05 Musculoskeletal Diseases Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD021544 Slender metacarpals C4025077 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD021545 Tapering pointed ends of distal finger phalanges C4025078 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD021546 Thin proximal phalanges with broad epiphyses of the hand C4025079 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021547 Hypersegmentation of proximal phalanx of second finger C4025080 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021548 Thimble-shaped middle phalanges of hand C4025083 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021549 Irregular metacarpals C4025086 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021550 Long phalanx of finger C4025087 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021551 Broad metacarpal epiphyses C4025088 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021552 Shortening of all proximal phalanges of the fingers C4025089 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021553 Long proximal phalanx of finger C4025090 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021554 Cuboidal metacarpal C4025093 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021555 Reduced phenylalanine hydroxylase activity C4025094 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD021556 Hypoargininemia C4025095 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 4 BXGD021557 Ventilator dependence with inability to wean C4025097 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 4 BXGD021558 Abnormal hand morphology C4025109 disease C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064 Abnormality of limbs T190 Anatomical Abnormality 5 BXGD021559 Radial deviation of thumb terminal phalanx C4025111 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD021560 Metacarpophalangeal synostosis C4025117 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021561 Metaphyseal enchondromatosis C4025121 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021562 Shortening of all distal phalanges of the toes C4025132 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD021563 Cortical thickening of long bone diaphyses C4025133 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD021564 Multiple skeletal anomalies C4025138 phenotype C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD021565 Fifth finger distal phalanx clinodactyly C4025139 disease Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 2 BXGD021566 Cortical irregularity C4025145 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021567 Hyperextensible thumb C4025148 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 3 BXGD021568 Increased bone density with cystic changes C4025151 phenotype C05 Musculoskeletal Diseases Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021569 Rudimentary postaxial polydactyly of hands C4025158 disease Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 1 BXGD021570 Positional foot deformity C4025161 disease C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064 Abnormality of limbs T190 Anatomical Abnormality 3 BXGD021571 Multiple digital exostoses C4025162 disease C16;C04;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Neoplastic Process HP:0002664;HP:0000924 Neoplasm; Abnormality of the skeletal system T191 Neoplastic Process 1 BXGD021572 Cortical sclerosis C4025164 phenotype C05 Musculoskeletal Diseases Pathologic Function HP:0000924 Abnormality of the skeletal system T046 Pathologic Function 4 BXGD021573 Abnormal vertebral segmentation and fusion C4025167 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 11 BXGD021574 Osteoporosis of vertebrae C4025170 disease Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 15 BXGD021575 Large cafe-au-lait macules with irregular margins C4025174 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 2 BXGD021576 Congenital alopecia totalis C4025175 disease Congenital Abnormality HP:0001574 Abnormality of the integument T019 Congenital Abnormality 2 BXGD021577 Non-acidotic proximal tubulopathy C4025176 disease Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 1 BXGD021578 Exercise-induced hemolysis C4025182 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 2 BXGD021579 Macrocytic dyserythropoietic anemia C4025183 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 2 BXGD021580 Spontaneous hemolytic crises C4025184 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 7 BXGD021581 T-cell lymphoma/leukemia C4025186 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process HP:0002664;HP:0001871 Neoplasm; Abnormality of blood and blood-forming tissues T191 Neoplastic Process 2 BXGD021582 Increased megakaryocyte count C4025187 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 7 BXGD021583 Abnormal epiglottis morphology C4025190 phenotype Anatomical Abnormality HP:0002086 Abnormality of the respiratory system T190 Anatomical Abnormality 2 BXGD021584 Orbital craniosynostosis C4025192 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 1 BXGD021585 Craniofacial osteosclerosis C4025193 disease C05 Musculoskeletal Diseases Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD021586 Sclerotic cranial sutures C4025195 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 2 BXGD021587 Absence of CD8-positive T cells C4025197 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 2 BXGD021588 Recurrent gram-negative bacterial infections C4025198 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 1 BXGD021589 Reduction of neutrophil motility C4025201 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 2 BXGD021590 Recurrent Haemophilus influenzae infections C4025204 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 7 BXGD021591 Severe T-cell immunodeficiency C4025208 disease Disease or Syndrome HP:0002715 Abnormality of the immune system T047 Disease or Syndrome 5 BXGD021592 Abnormal carotid artery morphology C4025211 disease Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 32 BXGD021593 Autonomic bladder dysfunction C4025212 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 5 BXGD021594 Abnormality of complement system C4025213 phenotype Pathologic Function HP:0002715 Abnormality of the immune system T046 Pathologic Function 2 BXGD021595 Sleepy facial expression C4025214 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 3 BXGD021596 Disturbance of facial expression C4025215 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 5 BXGD021597 Pulmonary aterial intimal fibrosis C4025217 disease Disease or Syndrome HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system T047 Disease or Syndrome 1 BXGD021598 Vasculitis of large artery C4025218 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 21 BXGD021599 Partial abdominal muscle agenesis C4025228 phenotype Finding HP:0025031;HP:0003011 Abnormality of the digestive system; Abnormality of the musculature T033 Finding 1 BXGD021600 Chronic calcifying pancreatitis C4025231 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T047 Disease or Syndrome 10 BXGD021601 Generalized morning stiffness C4025238 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD021602 Flattened metatarsal heads C4025240 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021603 Abnormal atrioventricular conduction C4025244 phenotype Pathologic Function HP:0001626 Abnormality of the cardiovascular system T046 Pathologic Function 7 BXGD021604 Abnormality of the intervertebral disk C4025249 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 30 BXGD021605 Abnormal sacrum morphology C4025250 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 17 BXGD021606 Abnormality of the vertebral endplates C4025251 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021607 Abnormal nasal morphology C4025252 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 34 BXGD021608 Streaky metaphyseal sclerosis C4025253 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD021609 Absent styloid process of ulna C4025254 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021610 Recurrent cerebral hemorrhage C4025264 disease C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome HP:0000707;HP:0001871;HP:0001626 Abnormality of the nervous system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T047 Disease or Syndrome 1 BXGD021611 Medial calcification of large arteries C4025265 phenotype Pathologic Function HP:0000924;HP:0001626 Abnormality of the skeletal system; Abnormality of the cardiovascular system T046 Pathologic Function 2 BXGD021612 Generalized arterial calcification C4025269 phenotype Pathologic Function HP:0000924;HP:0001626 Abnormality of the skeletal system; Abnormality of the cardiovascular system T046 Pathologic Function 1 BXGD021613 Arteriosclerosis of small cerebral arteries C4025270 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system T047 Disease or Syndrome 3 BXGD021614 Abnormality of the pulmonary vasculature C4025271 phenotype Anatomical Abnormality HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system T190 Anatomical Abnormality 2 BXGD021615 Peripheral arterial stenosis C4025272 disease Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 124 BXGD021616 Atypical hyperphenylalaninemia C4025273 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD021617 Generalized distal tubular acidosis C4025275 disease C16;C18;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T047 Disease or Syndrome 1 BXGD021618 Congenital lactic acidosis C4025276 disease C18 Nutritional and Metabolic Diseases Congenital Abnormality HP:0001939 Abnormality of metabolism/homeostasis T019 Congenital Abnormality 12 BXGD021619 Stress/infection-induced lactic acidosis C4025278 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 4 BXGD021620 Respiratory failure requiring assisted ventilation C4025279 phenotype C08 Respiratory Tract Diseases Finding HP:0002086 Abnormality of the respiratory system T033 Finding 9 BXGD021621 Neonatal inspiratory stridor C4025281 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 2 BXGD021622 Impaired ADP-induced platelet aggregation C4025282 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 3 BXGD021623 Compensated hemolytic anemia C4025283 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 3 BXGD021624 Reduced protein S activity C4025284 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 2 BXGD021625 Microspherocytosis C4025285 disease Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 13 BXGD021626 Recurrent thromboembolism C4025286 phenotype C14 Cardiovascular Diseases Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 2 BXGD021627 Folate-unresponsive megaloblastic anemia C4025287 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 1 BXGD021628 Hypersegmentation of neutrophil nuclei C4025288 disease Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD021629 Juvenile gastrointestinal polyposis C4025294 disease Disease or Syndrome HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T047 Disease or Syndrome 2 BXGD021630 Elbow hypertrichosis C4025295 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 1 BXGD021631 Brittle scalp hair C4025296 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 2 BXGD021632 Effort-induced polymorphic ventricular tachycardias C4025298 phenotype C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 1 BXGD021633 Cervical C5/C6 vertebrae fusion C4025301 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021634 Anterior beaking of thoracic vertebrae C4025302 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021635 Enlarged vertebral pedicles C4025303 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021636 Anterior beaking of lower thoracic vertebrae C4025306 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021637 Hyperconvex vertebral body endplates C4025307 phenotype Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021638 Atrophic, patchy alopecia C4025314 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 1 BXGD021639 Large clumps of pigment irregularly distributed along hair shaft C4025315 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 2 BXGD021640 Temporal hypotrichosis C4025316 disease Congenital Abnormality HP:0001574 Abnormality of the integument T019 Congenital Abnormality 3 BXGD021641 Chronic rhinitis due to narrow nasal airway C4025318 disease Disease or Syndrome HP:0000152 Abnormality of head or neck T047 Disease or Syndrome 1 BXGD021642 Cessation of head growth C4025319 disease Anatomical Abnormality HP:0000707;HP:0000152;HP:0000924 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 6 BXGD021643 Craniofacial asymmetry C4025320 disease C23 Pathological Conditions, Signs and Symptoms Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 16 BXGD021644 Mandibular hyperostosis C4025321 disease Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021645 Postauricular skin tag C4025323 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD021646 Congenital pyloric atresia C4025327 disease Congenital Abnormality HP:0025031 Abnormality of the digestive system T019 Congenital Abnormality 6 BXGD021647 Abnormality of the anus C4025329 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality HP:0025031 Abnormality of the digestive system T190 Anatomical Abnormality 16 BXGD021648 Abnormality of circulating leptin level C4025339 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 1 BXGD021649 Weakness of muscles of respiration C4025347 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0002086;HP:0003011 Abnormality of the respiratory system; Abnormality of the musculature T033 Finding 4 BXGD021650 Abnormality of glycosphingolipid metabolism C4025350 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 3 BXGD021651 Abnormal vitreous humor morphology C4025356 disease Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 2 BXGD021652 Functional motor deficit C4025360 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 10 BXGD021653 Abnormality of the gastric mucosa C4025362 disease Anatomical Abnormality HP:0025031 Abnormality of the digestive system T190 Anatomical Abnormality 12 BXGD021654 Irregular ossification of hand bones C4025374 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 3 BXGD021655 Osteoarthritis of the small joints of the hand C4025381 disease C05 Musculoskeletal Diseases Disease or Syndrome HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T047 Disease or Syndrome 2 BXGD021656 Abnormality of the trapezium C4025390 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021657 Abnormality of the scaphoid C4025397 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021658 Irregular carpal bones C4025401 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD021659 Abnormality of the middle phalanx of the 5th finger C4025406 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021660 Midline defect of the nose C4025411 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 4 BXGD021661 Abnormality of ulnar metaphysis C4025424 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD021662 Deformed radius C4025467 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021663 Cortical subperiosteal resorption of humeral metaphyses C4025515 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 2 BXGD021664 Humeral cortical thickening C4025542 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD021665 Late-onset distal muscle weakness C4025565 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 3 BXGD021666 Muscle abnormality related to mitochondrial dysfunction C4025566 phenotype Anatomical Abnormality HP:0003011 Abnormality of the musculature T190 Anatomical Abnormality 5 BXGD021667 Type 1 and type 2 muscle fiber minicore regions C4025568 phenotype C23;C11;C05;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 2 BXGD021668 Eunuchoid habitus C4025569 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001507 Growth abnormality T033 Finding 21 BXGD021669 Hypoplasia of lymphatic vessels C4025570 disease Congenital Abnormality HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system T019 Congenital Abnormality 1 BXGD021670 Type 1 fibers relatively smaller than type 2 fibers C4025571 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 6 BXGD021671 Episodic flaccid weakness C4025572 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 6 BXGD021672 Increased muscle fatiguability C4025573 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 9 BXGD021673 Myotonia with warm-up phenomenon C4025575 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 1 BXGD021674 EMG: myotonic runs C4025576 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 3 BXGD021675 Late-onset proximal muscle weakness C4025578 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 7 BXGD021676 Large beaked nose C4025579 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 13 BXGD021677 Reduced dihydropyrimidine dehydrogenase activity C4025582 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 2 BXGD021678 Lacticaciduria C4025585 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 12 BXGD021679 Electron transfer flavoprotein-ubiquinone oxidoreductase defect C4025586 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 3 BXGD021680 Positive ferric chloride test C4025589 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD021681 Foam cells with lamellar inclusion bodies C4025590 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 2 BXGD021682 Increased intracellular sodium C4025593 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 2 BXGD021683 Positive regitine blocking test C4025594 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 15 BXGD021684 Abnormality of connective tissue C4025596 disease Anatomical Abnormality HP:0003549 Abnormality of connective tissue T190 Anatomical Abnormality 4 BXGD021685 Subsarcolemmal accumulations of abnormally shaped mitochondria C4025597 disease Anatomical Abnormality HP:0003011 Abnormality of the musculature T190 Anatomical Abnormality 6 BXGD021686 Urinary glycosaminoglycan excretion C4025598 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 2 BXGD021687 Reduced xanthine dehydrogenase activity C4025600 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 2 BXGD021688 Ornithinuria C4025602 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 3 BXGD021689 Glutaric acidemia C4025603 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 5 BXGD021690 Elevated urine pyrophosphate C4025607 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 1 BXGD021691 EMG: axonal abnormality C4025609 phenotype Pathologic Function HP:0003011 Abnormality of the musculature T046 Pathologic Function 6 BXGD021692 Peripheral dysmyelination C4025610 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD021693 Polyclonal elevation of IgM C4025612 phenotype Finding HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T033 Finding 5 BXGD021694 Increased rate of premature chromosome condensation C4025613 phenotype Cell or Molecular Dysfunction HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T049 Cell or Molecular Dysfunction 1 BXGD021695 EMG: chronic denervation signs C4025614 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 18 BXGD021696 Decreased size of nerve terminals C4025615 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 15 BXGD021697 CNS hypomyelination C4025616 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 32 BXGD021698 Peripheral axonal atrophy C4025619 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 4 BXGD021699 Elevated intracellular cystine C4025623 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 1 BXGD021700 Impaired lymphocyte transformation with phytohemagglutinin C4025625 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 4 BXGD021701 Elevated urinary norepinephrine C4025626 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 15 BXGD021702 Abnormal enchondral ossification C4025628 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD021703 Abnormal bone structure C4025630 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 7 BXGD021704 Argininuria C4025635 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 3 BXGD021705 Reduced orotidine 5-prime phosphate decarboxylase activity C4025636 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD021706 Decreased pyruvate carboxylase activity C4025641 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD021707 Hypothalamic gonadotropin-releasing hormone deficiency C4025644 phenotype Finding HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T033 Finding 22 BXGD021708 Abnormality of the spinocerebellar tracts C4025647 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 3 BXGD021709 Abnormal peripheral myelination C4025648 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 2 BXGD021710 Reduced factor VIII activity C4025649 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 4 BXGD021711 Abnormality of lipid metabolism C4025650 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD021712 Increased circulating cortisol level C4025651 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 11 BXGD021713 Abnormality of urine homeostasis C4025655 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 1 BXGD021714 Abnormality of the shoulder C4025659 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 8 BXGD021715 Abnormality of the ankles C4025660 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 17 BXGD021716 Abnormality of the ulna C4025662 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 14 BXGD021717 Abnormality of tibia morphology C4025663 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 13 BXGD021718 Abnormality of fibula morphology C4025664 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD021719 Aplasia/Hypoplasia involving the central nervous system C4025665 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD021720 Decreased circulating ACTH level C4025669 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 18 BXGD021721 Abnormality of chromosome segregation C4025670 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 5 BXGD021722 Sudden episodic apnea C4025671 disease C23;C08 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system T047 Disease or Syndrome 14 BXGD021723 Impaired memory B cell generation C4025672 phenotype Cell or Molecular Dysfunction HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T049 Cell or Molecular Dysfunction 3 BXGD021724 Recurrent Burkholderia cepacia infections C4025673 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 4 BXGD021725 Flared femoral metaphysis C4025674 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD021726 Abnormality of the radius C4025675 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 5 BXGD021727 Abnormality of the knee C4025676 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 10 BXGD021728 Stippled chondral calcification C4025679 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 2 BXGD021729 Abnormal cartilage morphology C4025680 phenotype Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021730 Recurrent enteroviral infections C4025681 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 5 BXGD021731 Recurrent Serratia marcescens infections C4025682 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 4 BXGD021732 Lymph node hypoplasia C4025683 phenotype Finding HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system T033 Finding 4 BXGD021733 Recurrent abscess formation C4025684 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 6 BXGD021734 Prenatal maternal abnormality C4025690 disease Anatomical Abnormality HP:0001197 Abnormality of prenatal development or birth T190 Anatomical Abnormality 23 BXGD021735 Abnormality of calvarial morphology C4025692 phenotype Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 8 BXGD021736 Hypertension associated with pheochromocytoma C4025693 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 4 BXGD021737 Paresis of extensor muscles of the big toe C4025696 phenotype Finding HP:0040064;HP:0000924;HP:0003011 Abnormality of limbs; Abnormality of the skeletal system; Abnormality of the musculature T033 Finding 4 BXGD021738 Abnormality of the peritoneum C4025698 disease Anatomical Abnormality HP:0025031 Abnormality of the digestive system T190 Anatomical Abnormality 9 BXGD021739 Abnormality of the stomach C4025699 disease Anatomical Abnormality HP:0025031 Abnormality of the digestive system T190 Anatomical Abnormality 3 BXGD021740 Trichodysplasia C4025700 disease Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 3 BXGD021741 Abnormality of the cerebral cortex C4025701 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 11 BXGD021742 Calcification of the small brain vessels C4025703 phenotype Pathologic Function HP:0000707;HP:0000924;HP:0001626 Abnormality of the nervous system; Abnormality of the skeletal system; Abnormality of the cardiovascular system T046 Pathologic Function 3 BXGD021743 Abnormality of the corticospinal tract C4025704 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 5 BXGD021744 Eye of the tiger anomaly of globus pallidus C4025705 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD021745 Abnormal globus pallidus morphology C4025706 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 10 BXGD021746 Diminished movement C4025710 phenotype C10 Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD021747 Abnormal caudate nucleus morphology C4025711 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 9 BXGD021748 Abnormality of the cerebellar vermis C4025712 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 6 BXGD021749 Paroxysmal drowsiness C4025713 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 1 BXGD021750 Abnormality of the autonomic nervous system C4025714 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 3 BXGD021751 Abnormal large intestine morphology C4025715 disease Anatomical Abnormality HP:0025031 Abnormality of the digestive system T190 Anatomical Abnormality 2 BXGD021752 Abnormality of the small intestine C4025717 disease Anatomical Abnormality HP:0025031 Abnormality of the digestive system T190 Anatomical Abnormality 2 BXGD021753 Early balding C4025718 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 2 BXGD021754 Dysgenesis of the cerebellar vermis C4025719 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 4 BXGD021755 Pseudobulbar behavioral symptoms C4025720 phenotype F01 Behavior and Behavior Mechanisms Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 5 BXGD021756 Abnormality of the spinal cord C4025722 group Finding HP:0000707 Abnormality of the nervous system T033 Finding 4 BXGD021757 Abnormal upper motor neuron morphology C4025723 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 20 BXGD021758 Abnormality of the cerebral ventricles C4025724 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 4 BXGD021759 Abnormality of the pleura C4025726 disease Anatomical Abnormality HP:0002086 Abnormality of the respiratory system T190 Anatomical Abnormality 10 BXGD021760 Increased neuronal autofluorescent lipopigment C4025728 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 8 BXGD021761 Neuromuscular dysphagia C4025729 disease C06;C09 Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome HP:0025031;HP:0000707 Abnormality of the digestive system; Abnormality of the nervous system T047 Disease or Syndrome 12 BXGD021762 Renal cortical atrophy C4025730 disease Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 1 BXGD021763 Abnormal thrombosis C4025731 disease Anatomical Abnormality HP:0001871 Abnormality of blood and blood-forming tissues T190 Anatomical Abnormality 13 BXGD021764 Tubulointerstitial abnormality C4025732 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 23 BXGD021765 Mesangial abnormality C4025733 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 1 BXGD021766 Abnormality of the scalp C4025734 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 2 BXGD021767 Nonspherocytic hemolytic anemia C4025735 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 13 BXGD021768 Acroosteolysis of distal phalanges (feet) C4025739 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021769 Autoamputation of foot C4025740 phenotype C05 Musculoskeletal Diseases Finding HP:0040064 Abnormality of limbs T033 Finding 2 BXGD021770 Clinodactyly of the 5th toe C4025741 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 13 BXGD021771 Foot acroosteolysis C4025744 phenotype Pathologic Function HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T046 Pathologic Function 6 BXGD021772 Bulbous tips of toes C4025747 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021773 Abnormality of the spleen C4025749 disease Anatomical Abnormality HP:0025031;HP:0002715;HP:0001626 Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system T190 Anatomical Abnormality 26 BXGD021774 Abnormality of the nasopharynx C4025750 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 10 BXGD021775 Abnormality of the pancreas C4025751 disease Anatomical Abnormality HP:0025031 Abnormality of the digestive system T190 Anatomical Abnormality 13 BXGD021776 Abnormal cardiac ventricle morphology C4025752 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 2 BXGD021777 Abnormal tricuspid valve morphology C4025753 disease Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 11 BXGD021778 Abnormal aortic morphology C4025756 disease Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 29 BXGD021779 Abnormal myocardium morphology C4025758 phenotype C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 19 BXGD021780 Abnormal mitral valve morphology C4025759 disease Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 5 BXGD021781 Primary hypercortisolism C4025760 disease Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 4 BXGD021782 Abnormality of the integument C4025761 disease Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 3 BXGD021783 Abnormality of the rib cage C4025763 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 16 BXGD021784 Aplasia/Hypoplasia involving the skeletal musculature C4025773 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 19 BXGD021785 Autosomal dominant contiguous gene syndrome C4025777 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD021786 Abnormality of the musculature of the lower limbs C4025784 disease Anatomical Abnormality HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T190 Anatomical Abnormality 2 BXGD021787 Abnormality of the foot musculature C4025785 phenotype Anatomical Abnormality HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T190 Anatomical Abnormality 8 BXGD021788 Calvarial skull defect C4025787 disease Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 22 BXGD021789 Nystagmus-induced head nodding C4025788 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 9 BXGD021790 Psychotic mentation C4025789 disease F03 Mental Disorders Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 3 BXGD021791 Specific learning disability C4025790 disease Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 165 BXGD021792 EEG with irregular generalized spike and wave complexes C4025792 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 7 BXGD021793 Short tubular bones of the hand C4025795 phenotype C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021794 Abnormality of the fingertips C4025796 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021795 Abnormality of prenatal development or birth C4025797 disease Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 23 BXGD021796 Ulnar claw C4025799 disease C05 Musculoskeletal Diseases Congenital Abnormality HP:0040064 Abnormality of limbs T019 Congenital Abnormality 9 BXGD021797 Large central visual field defect C4025800 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 2 BXGD021798 Intermittent jaundice C4025805 phenotype C23 Pathological Conditions, Signs and Symptoms Pathologic Function HP:0025031;HP:0001574 Abnormality of the digestive system; Abnormality of the integument T046 Pathologic Function 3 BXGD021799 High axial triradius C4025806 disease Anatomical Abnormality HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T190 Anatomical Abnormality 2 BXGD021800 Facial flushing after alcohol intake C4025808 phenotype C23 Pathological Conditions, Signs and Symptoms Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD021801 Penetrating foot ulcers C4025809 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 1 BXGD021802 Abnormal palmar dermatoglyphics C4025810 disease Anatomical Abnormality HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T190 Anatomical Abnormality 5 BXGD021803 Anemic pallor C4025811 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0001574 Abnormality of the integument T184 Sign or Symptom 8 BXGD021804 Dermatological manifestations of systemic disorders C4025812 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 3 BXGD021805 Abnormality of subcutaneous fat tissue C4025813 phenotype Anatomical Abnormality HP:0001574;HP:0003549 Abnormality of the integument; Abnormality of connective tissue T190 Anatomical Abnormality 4 BXGD021806 Abnormality of the metaphysis C4025814 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 97 BXGD021807 Abnormality of skeletal maturation C4025818 phenotype Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD021808 Abnormality of the hypothalamus-pituitary axis C4025819 disease Anatomical Abnormality HP:0000818 Abnormality of the endocrine system T190 Anatomical Abnormality 70 BXGD021809 Anterior hypopituitarism C4025821 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T047 Disease or Syndrome 48 BXGD021810 Abnormality of the parathyroid gland C4025822 disease Anatomical Abnormality HP:0000818 Abnormality of the endocrine system T190 Anatomical Abnormality 2 BXGD021811 Abnormality of the endocrine system C4025823 disease Anatomical Abnormality HP:0000818 Abnormality of the endocrine system T190 Anatomical Abnormality 7 BXGD021812 Abnormal external genitalia C4025825 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 3 BXGD021813 Abnormality of the urethra C4025826 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 4 BXGD021814 IgA deposition in the glomerulus C4025827 phenotype Finding HP:0000119 Abnormality of the genitourinary system T033 Finding 1 BXGD021815 Abnormality of the scapula C4025828 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD021816 Peripheral axonal degeneration C4025830 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 9 BXGD021817 Abnormal peripheral nervous system morphology C4025831 disease Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 4 BXGD021818 Abnormal amplitude of pattern reversal visual evoked potentials C4025834 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD021819 Abnormal nasolacrimal system morphology C4025835 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 23 BXGD021820 Abnormal choroid morphology C4025836 disease Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 12 BXGD021821 Abnormality of the pharynx C4025838 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 23 BXGD021822 Abnormal uvea morphology C4025842 phenotype Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 1 BXGD021823 Abnormality of refraction C4025843 disease Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 28 BXGD021824 Abnormal chorioretinal morphology C4025844 disease Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 36 BXGD021825 Abnormality iris morphology C4025845 disease Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 27 BXGD021826 Abnormality of vision C4025846 disease Finding HP:0000478 Abnormality of the eye T033 Finding 127 BXGD021827 Abnormal conjunctiva morphology C4025847 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 2 BXGD021828 Increased adipose tissue around the neck C4025850 phenotype Finding HP:0000152;HP:0003549 Abnormality of head or neck; Abnormality of connective tissue T033 Finding 2 BXGD021829 Nasal mucosa telangiectasia C4025853 disease Anatomical Abnormality HP:0001574;HP:0000152;HP:0001626 Abnormality of the integument; Abnormality of head or neck; Abnormality of the cardiovascular system T190 Anatomical Abnormality 2 BXGD021830 Abnormality of the nasal mucosa C4025854 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 2 BXGD021831 Incomplete partition of the cochlea type II C4025857 phenotype Finding HP:0000598 Abnormality of the ear T033 Finding 4 BXGD021832 Abnormal cochlea morphology C4025858 disease Anatomical Abnormality HP:0000598 Abnormality of the ear T190 Anatomical Abnormality 16 BXGD021833 Hearing abnormality C4025860 disease Finding HP:0000598 Abnormality of the ear T033 Finding 24 BXGD021834 Abnormality of the orbital region C4025863 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 5 BXGD021835 Abnormality of facial musculature C4025865 phenotype Anatomical Abnormality HP:0000152;HP:0003011 Abnormality of head or neck; Abnormality of the musculature T190 Anatomical Abnormality 1 BXGD021836 Abnormality of the forehead C4025867 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 4 BXGD021837 Increased facial adipose tissue C4025868 phenotype Finding HP:0000152;HP:0003549 Abnormality of head or neck; Abnormality of connective tissue T033 Finding 1 BXGD021838 Abnormality of the mandible C4025870 phenotype Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021839 Abnormality of the face C4025871 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 31 BXGD021840 Abnormality of the anterior fontanelle C4025875 phenotype Anatomical Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T190 Anatomical Abnormality 2 BXGD021841 Tongue telangiectasia C4025878 disease Anatomical Abnormality HP:0001574;HP:0000152;HP:0001626 Abnormality of the integument; Abnormality of head or neck; Abnormality of the cardiovascular system T190 Anatomical Abnormality 2 BXGD021842 Abnormal oral frenulum morphology C4025881 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 19 BXGD021843 Movement abnormality of the tongue C4025882 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD021844 Abnormality of upper lip C4025884 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 6 BXGD021845 Abnormality of the uvula C4025885 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 2 BXGD021846 Severe periodontitis C4025886 disease C07 Stomatognathic Diseases Disease or Syndrome HP:0002715;HP:0000152 Abnormality of the immune system; Abnormality of head or neck T047 Disease or Syndrome 54 BXGD021847 Abnormal oral cavity morphology C4025887 disease Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 12 BXGD021848 Abnormality of the menstrual cycle C4025888 disease C23 Pathological Conditions, Signs and Symptoms Finding HP:0000119;HP:0000818 Abnormality of the genitourinary system; Abnormality of the endocrine system T033 Finding 11 BXGD021849 Ambiguous genitalia, female C4025891 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 10 BXGD021850 Abnormality of the labia C4025892 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 11 BXGD021851 Abnormality of the scrotum C4025895 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 13 BXGD021852 Abnormality of the penis C4025896 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 8 BXGD021853 Functional abnormality of male internal genitalia C4025898 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 9 BXGD021854 Abnormality of male internal genitalia C4025899 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 5 BXGD021855 Abnormality of female internal genitalia C4025900 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 31 BXGD021856 Abnormality of body height C4025901 disease Finding HP:0001507 Growth abnormality T033 Finding 18 BXGD021857 Asthma-chronic obstructive pulmonary disease overlap syndrome C4038730 disease C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD021858 Steep mandibular plane angle C4038738 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 1 BXGD021859 Gastritis cystica profunda C4038754 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD021860 Pneumonia due to influenza C4038890 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD021861 Metastatic thymic carcinoma C4038952 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD021862 Chronic pneumonia C4039254 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD021863 Symptomatic irreversible pulpitis C4039735 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD021864 Undifferentiated spondyloarthropathy C4039764 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD021865 Acute hypoxemic respiratory failure C4039867 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD021866 Metastatic seminoma C4040134 disease Neoplastic Process T191 Neoplastic Process 1 BXGD021867 Bacteremia due to Methicillin resistant Staphylococcus aureus C4040349 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD021868 Acute hypercapnic respiratory failure C4040419 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD021869 Dream enactment behavior C4040601 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD021870 Inflammation of fetal umbilical artery C4040834 disease C16;C13;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD021871 STING-associated vasculopathy with onset in infancy C4040879 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD021872 Mosaic Turner syndrome C4040907 disease C16;C13;C12;C19;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD021873 Neurocognitive Disorders C4041080 group F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 79 BXGD021874 Poorly differentiated sarcoma C4041089 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 11 BXGD021875 Acute exacerbation of chronic obstructive bronchitis C4041147 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD021876 Lesion of fallopian tube C4041194 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 1 BXGD021877 Cone-rod synaptic disorder, congenital nonprogressive C4041558 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD021878 Feeding and Eating Disorders C4042784 group F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 2 BXGD021879 Left-Sided Breast Neoplasms C4042788 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD021880 Right-Sided Breast Neoplasms C4042789 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD021881 Obesity, Metabolically Benign C4042861 phenotype C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Sign or Symptom T184 Sign or Symptom 19 BXGD021882 Sleep Wake Disorders C4042891 group C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 12 BXGD021883 Mammary Analogue Secretory Carcinoma C4042906 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 17 BXGD021884 Trauma and Stressor Related Disorders C4042925 F43.9 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD021885 Specific Learning Disorder C4042933 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD021886 Severe Acute Malnutrition C4042945 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD021887 Altitude Hypoxia C4045968 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD021888 Perihilar Cholangiocarcinoma C4045991 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 41 BXGD021889 Mental Disorders, Severe C4046029 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 26 BXGD021890 Convulsions C4048158 R56.9 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 174 BXGD021891 Autosomal dominant hypocalcemia C4048195 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 29 BXGD021892 beta-Mannosidosis C4048196 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD021893 Ulnar deviation of the hand or of fingers of the hand C4048199 phenotype Finding HP:0040064 Abnormality of limbs T033 Finding 11 BXGD021894 Congenital anomaly of anterior segment of eye C4048228 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality T019 Congenital Abnormality 9 BXGD021895 Undifferentiated spindle cell sarcoma C4048234 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 5 BXGD021896 Cortical visual impairment C4048268 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function HP:0000478 Abnormality of the eye T046 Pathologic Function 136 BXGD021897 Decreased antibody level in blood C4048270 phenotype Finding HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T033 Finding 75 BXGD021898 Chorioretinal atrophy C4048273 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 24 BXGD021899 Idiopathic retroperitoneal fibrosis C4048297 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 8 BXGD021900 Undifferentiated round cell sarcoma C4048304 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD021901 Neuroepithelioma C4048305 disease Neoplastic Process T191 Neoplastic Process 28 BXGD021902 Multiple endocrine neoplasia Type 2 C4048306 disease C16;C04;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:630 genetic disease T191 Neoplastic Process 56 BXGD021903 cervical cancer C4048328 disease C04;C13 Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1817 BXGD021904 Immunosuppression C4048329 disease Disease or Syndrome T047 Disease or Syndrome 632 BXGD021905 Malignant germ cell neoplasm C4048549 disease C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 7 BXGD021906 Sclerosing rhabdomyosarcoma C4048700 disease Neoplastic Process T191 Neoplastic Process 9 BXGD021907 Hypermethioninemia C4048705 E72.19 phenotype C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 16 BXGD021908 Sphincter of Oddi Dyskinesia C4048750 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 4 BXGD021909 Complete congenital stationary night blindness C4048798 disease Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 6 BXGD021910 SCHWANNOMATOSIS 1 C4048809 disease C16;C04;C17;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD021911 Cataract, total congenital with posterior sutural opacities in Heterozygotes C4049005 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 8 BXGD021912 Selective immunoglobulin A deficiency C4049006 D80.2 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 45 BXGD021913 Alopecia, Androgenetic, 1 C4049090 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 39 BXGD021914 Idiopathic partial epilepsy C4049182 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD021915 Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency C4049241 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD021916 Hormone refractory breast cancer C4049259 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 15 BXGD021917 Febrile infection related epilepsy syndrome C4049262 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD021918 Tumour budding C4049272 disease Neoplastic Process T191 Neoplastic Process 71 BXGD021919 Systemic immune activation C4049273 disease Disease or Syndrome T047 Disease or Syndrome 23 BXGD021920 Post stroke epilepsy C4049279 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD021921 Pseudogynaecomastia C4049281 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD021922 Hypertensive cerebrovascular disease C4049284 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD021923 Multinucleate cell angiohistiocytoma C4049285 disease C04;C14 Neoplasms; Cardiovascular Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD021924 Renal medullary carcinoma C4049328 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 12 BXGD021925 Antral gastritis C4049333 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD021926 Foot osteomyelitis C4049342 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome HP:0002715;HP:0040064;HP:0000924 Abnormality of the immune system; Abnormality of limbs; Abnormality of the skeletal system T047 Disease or Syndrome 5 BXGD021927 Combined pulmonary fibrosis and emphysema C4049343 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD021928 Cancer-associated thrombosis C4049381 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD021929 Chronic hepatitis C genotype 1 C4049392 disease Disease or Syndrome T047 Disease or Syndrome 14 BXGD021930 Chronic hepatitis C genotype 1b C4049394 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD021931 Chronic hepatitis C genotype 4 C4049431 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD021932 Chronic hepatitis C genotype 3 C4049435 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD021933 Neointimal hyperplasia C4049446 disease Disease or Syndrome T047 Disease or Syndrome 198 BXGD021934 End stage Parkinson's disease C4049471 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD021935 Very late onset schizophrenia C4049474 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD021936 Extragenital endometriosis C4049490 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD021937 Verrucous keratosis C4049491 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD021938 Post stroke seizure C4049493 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD021939 Retinal nonperfusion C4049512 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD021940 Primary pineal melanoma C4049560 disease Neoplastic Process T191 Neoplastic Process 1 BXGD021941 Thrombotic vascular disease C4049573 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD021942 Keratin pearl C4049579 disease Neoplastic Process T191 Neoplastic Process 5 BXGD021943 Megaureter C4049615 disease Congenital Abnormality T019 Congenital Abnormality 8 BXGD021944 ROSE Cluster 1 C4049636 disease Neoplastic Process T191 Neoplastic Process 14 BXGD021945 Cutaneous Small Vessel Vasculitis C4049638 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD021946 Familial Glucocorticoid Deficiency Type 1 C4049650 disease C16;C18;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 12 BXGD021947 Nephrotic Syndrome - Frequently Relapsing C4049701 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD021948 Focal Segmental Glomerulosclerosis, Not Otherwise Specified C4049702 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 42 BXGD021949 Lepidic Predominant Adenocarcinoma C4049711 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 46 BXGD021950 Infusion pump Alert priority PN C4049767 phenotype Finding T033 Finding 1 BXGD021951 Abnormality of cardiovascular system morphology C4049796 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 198 BXGD021952 Total Respiratory System Resistance C4049798 phenotype Diagnostic Procedure T060 Diagnostic Procedure 1 BXGD021953 Focal seizures, afebril C4049830 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 25 BXGD021954 Obstructive Ureterocele C4049883 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 25 BXGD021955 Insulin Sensitivity Measurement C4049919 phenotype Laboratory Procedure T059 Laboratory Procedure 14 BXGD021956 Physical Activity Measurement C4049938 phenotype Laboratory Procedure T059 Laboratory Procedure 160 BXGD021957 Aristolochic Acid Nephropathy C4049993 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 49 BXGD021958 ROSE Cluster 5 C4050064 disease Neoplastic Process T191 Neoplastic Process 23 BXGD021959 Cholesteryl Ester Transfer Protein Measurement C4050214 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD021960 ROSE Cluster 2 C4050313 disease Neoplastic Process T191 Neoplastic Process 5 BXGD021961 ROSE Cluster 3 C4050314 disease Neoplastic Process T191 Neoplastic Process 3 BXGD021962 Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis C4050407 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 71 BXGD021963 Ectomesenchymal Chondromyxoid Tumor C4050504 disease Neoplastic Process T191 Neoplastic Process 3 BXGD021964 Soluble P-Selectin Measurement C4050627 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD021965 ROHHAD syndrome C4053506 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD021966 Nasal Chondromesenchymal Hamartoma C4053514 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD021967 Hemosiderotic Fibrolipomatous Tumor C4053521 disease Neoplastic Process T191 Neoplastic Process 4 BXGD021968 Cribriform Neuroepithelial Tumor C4053528 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD021969 Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 C4053736 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD021970 Pituitary stalk interruption syndrome C4053775 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 16 BXGD021971 Secondary Peripheral Chondrosarcoma C4054043 disease Neoplastic Process T191 Neoplastic Process 6 BXGD021972 Secondary haemophagocytic lymphohistiocytosis C4054044 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD021973 Renal Angiomyoadenomatous Tumor C4054076 disease Neoplastic Process T191 Neoplastic Process 3 BXGD021974 Refusal to Bear Weight C4054081 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD021975 Refractory Childhood Acute Lymphoblastic Leukemia C4054085 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 13 BXGD021976 Radiation Nephropathy C4054127 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD021977 Ph-Like Acute Lymphoblastic Leukemia C4054188 disease Neoplastic Process T191 Neoplastic Process 30 BXGD021978 Pancreaticobiliary Malunion C4054251 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD021979 Ovarian Microcystic Stromal Tumor C4054287 disease Neoplastic Process T191 Neoplastic Process 2 BXGD021980 Obesity Related Glomerulopathy C4054325 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD021981 Monogenic Obesity C4054476 phenotype C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Sign or Symptom T184 Sign or Symptom 11 BXGD021982 Meningioangiomatosis C4054534 disease C16;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD021983 Membranous Lupus Nephritis C4054543 disease C13;C12;C20 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD021984 Melanocortin 4 Receptor Deficiency C4054546 phenotype Finding T033 Finding 24 BXGD021985 Lupus Flare C4054590 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD021986 Familial glucocorticoid deficiency C4054695 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD021987 Infant Leukemia C4054726 disease Neoplastic Process T191 Neoplastic Process 27 BXGD021988 Infant Acute Lymphoblastic Leukemia C4054727 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 52 BXGD021989 Grade III Chondrosarcoma C4054891 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 9 BXGD021990 Grade II Chondrosarcoma C4054892 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD021991 Fusion-Positive Rhabdomyosarcoma C4054911 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD021992 Fusion-Positive Alveolar Rhabdomyosarcoma C4054912 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 7 BXGD021993 Fusion-Negative Rhabdomyosarcoma C4054913 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD021994 Fusion-Negative Alveolar Rhabdomyosarcoma C4054914 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD021995 Focal Segmental Glomerulosclerosis Collapsing Variant C4054945 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD021996 Familial Atypical Hemolytic Uremic Syndrome C4055018 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 5 BXGD021997 Contrast - Induced Nephropathy C4055183 disease Disease or Syndrome T047 Disease or Syndrome 19 BXGD021998 Congenital Isolated Thyroid Stimulating Hormone Deficiency C4055195 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD021999 C3 Glomerulonephritis C4055342 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD022000 Soft Tissue Angiosarcoma C4055466 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD022001 Papilloma of breast C4060446 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD022002 Juvenile open angle C4068743 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD022003 Avascular retina C4068858 disease Disease or Syndrome T047 Disease or Syndrome 19 BXGD022004 Cardiovascular disease+Pulmonary disease C4072686 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022005 Sudden loss of visual acuity C4072828 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 5 BXGD022006 obsolete Peripheral retinopathy C4072867 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD022007 Paravenous chorioretinal atrophy C4072868 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 1 BXGD022008 obsolete Rod-cone dystrophy C4072872 disease Disease or Syndrome T047 Disease or Syndrome 29 BXGD022009 Ciliary body coloboma C4072884 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 2 BXGD022010 Increased serum testosterone level C4072885 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 5 BXGD022011 Decreased circulating gonadotropin level C4072887 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 2 BXGD022012 Decreased circulating follicle stimulating hormone level C4072889 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 5 BXGD022013 Decreased circulating luteinizing hormone level C4072890 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 6 BXGD022014 Increased circulating androgen level C4072893 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 1 BXGD022015 Decreased circulating androgen level C4072894 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 2 BXGD022016 Decreased serum insulin-like growth factor 1 C4072897 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 9 BXGD022017 Abnormal serum interferon-gamma level C4072899 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 2 BXGD022018 Increased serum interferon-gamma level C4072900 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 7 BXGD022019 Reduced muscle carnitine level C4072902 phenotype Finding HP:0001939;HP:0003011 Abnormality of metabolism/homeostasis; Abnormality of the musculature T033 Finding 1 BXGD022020 Primary Caesarian section C4072903 phenotype Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 11 BXGD022021 Secondary Caesarian section C4072904 phenotype Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 13 BXGD022022 Induced vaginal delivery C4072908 phenotype Pathologic Function HP:0001197 Abnormality of prenatal development or birth T046 Pathologic Function 10 BXGD022023 Increased proportion of transitional B cells C4072920 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD022024 Decreased proportion of class-switched memory B cells C4072925 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD022025 Spoken Word Recognition Deficit C4072928 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 8 BXGD022026 Ossifying fibroma of the jaw C4072940 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process HP:0002664 Neoplasm T191 Neoplastic Process 2 BXGD022027 Atypical pulmonary carcinoid tumor C4072942 disease Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 3 BXGD022028 Exudative vitreoretinopathy C4072980 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 6 BXGD022029 Yellow/white lesions of the retina C4072991 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 4 BXGD022030 Retinal crystals C4072992 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD022031 Difficulty adjusting from light to dark C4072995 disease Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 1 BXGD022032 Visual acuity test abnormality C4073006 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 5 BXGD022033 Abnormal best corrected visual acuity test C4073008 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 2 BXGD022034 Abnormal kinetic perimetry test C4073063 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 4 BXGD022035 Photoreceptor layer loss on macular OCT C4073079 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 3 BXGD022036 Foveal photoreceptor outer segment loss on macular OCT C4073085 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 3 BXGD022037 Perifoveal ring of hyperautofluorescence C4073099 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 5 BXGD022038 Hyperautofluorescent macular lesion C4073101 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 4 BXGD022039 Incomplete congenital stationary night blindness C4073107 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 3 BXGD022040 Blind-spot enlargment C4073109 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD022041 Optically empty vitreous C4073118 disease Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 2 BXGD022042 Decreased adiponectin level C4073127 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 4 BXGD022043 Abnormal pelvis bone morphology C4073132 phenotype Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 4 BXGD022044 Abnormality of the periosteum C4073134 disease Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD022045 Decreased serum testosterone level C4073137 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 47 BXGD022046 Abnormality of the tongue muscle C4073139 phenotype Anatomical Abnormality HP:0000152;HP:0003011 Abnormality of head or neck; Abnormality of the musculature T190 Anatomical Abnormality 5 BXGD022047 Increased level of platelet-activating factor C4073143 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD022048 Hyperkeratosis pilaris C4073145 disease Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 5 BXGD022049 Simultanapraxia C4073149 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD022050 Elevated CSF neopterin level C4073152 phenotype Finding HP:0001939;HP:0000707 Abnormality of metabolism/homeostasis; Abnormality of the nervous system T033 Finding 1 BXGD022051 Decreased CSF biopterin level C4073157 phenotype Finding HP:0001939;HP:0000707 Abnormality of metabolism/homeostasis; Abnormality of the nervous system T033 Finding 1 BXGD022052 Abnormal circulating insulin level C4073161 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 1 BXGD022053 Elevated hemoglobin A1c C4073162 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 14 BXGD022054 Absent natural killer cells C4073163 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD022055 Decreased urinary copper concentration C4073164 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 1 BXGD022056 Osteolysis involving bones of the upper limbs C4073167 phenotype C05 Musculoskeletal Diseases Pathologic Function HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T046 Pathologic Function 1 BXGD022057 Abnormal lactate dehydrogenase activity C4073168 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 19 BXGD022058 Decreased serum complement C4 C4073169 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 5 BXGD022059 Elevated plasma acylcarnitine levels C4073171 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 5 BXGD022060 Tiger tail banding C4073178 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 7 BXGD022061 Decreased carnitine level in liver C4073182 phenotype Finding HP:0025031;HP:0001939 Abnormality of the digestive system; Abnormality of metabolism/homeostasis T033 Finding 1 BXGD022062 Thick hair C4073184 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 16 BXGD022063 Abnormality of the somatic nervous system C4073188 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 1 BXGD022064 Abnormality of masticatory muscle C4073190 phenotype Anatomical Abnormality HP:0000152;HP:0003011 Abnormality of head or neck; Abnormality of the musculature T190 Anatomical Abnormality 17 BXGD022065 Bilateral facial muscle weakness C4073207 disease C23;C01;C10;C07 Pathological Conditions, Signs and Symptoms; Infections; Nervous System Diseases; Stomatognathic Diseases Finding HP:0000707;HP:0000152;HP:0003011 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculature T033 Finding 1 BXGD022066 Abnormality of masseter muscle C4073214 phenotype Anatomical Abnormality HP:0000152;HP:0003011 Abnormality of head or neck; Abnormality of the musculature T190 Anatomical Abnormality 2 BXGD022067 Abnormal cricoid cartilage morphology C4073246 phenotype Anatomical Abnormality HP:0002086;HP:0000924 Abnormality of the respiratory system; Abnormality of the skeletal system T190 Anatomical Abnormality 1 BXGD022068 Sterility, Reproductive C4074771 phenotype C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function T046 Pathologic Function 5 BXGD022069 Flap necrosis C4075512 disease Disease or Syndrome T047 Disease or Syndrome 12 BXGD022070 Occult chronic type B viral hepatitis C4075603 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 13 BXGD022071 Severe alcohol dependence C4075720 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD022072 Autoimmune cholangitis C4075851 disease C06;C20 Digestive System Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD022073 Chronic kidney disease mineral and bone disorder C4076240 disease C18;C13;C05;C12;C19 Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 26 BXGD022074 Dental plaque induced gingivitis C4076304 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD022075 Chronic alcoholic liver disease C4076349 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD022076 Encephalitis caused by tick-borne encephalitis virus C4076533 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD022077 Prostate cancer metastatic to bone C4076671 disease Neoplastic Process T191 Neoplastic Process 4 BXGD022078 Supine hypertension C4076686 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD022079 Autosomal Dominant Hereditary Pancreatitis C4080064 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD022080 Hereditary systemic amyloidosis C4081731 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD022081 Metatarsal Valgus C4082144 disease C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 22 BXGD022082 Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome C4082167 disease C23;C01;C08;C20;C07;C09 Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD022083 Partial duplication of thumb phalanx C4082168 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 12 BXGD022084 Metatarsus Varus C4082169 disease C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 41 BXGD022085 Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency C4082171 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD022086 Porencephalic cyst C4082172 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 28 BXGD022087 Porencephaly C4082173 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD022088 Bulbar palsy C4082299 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T047 Disease or Syndrome 48 BXGD022089 Developmental Porencephaly C4082301 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 2 BXGD022090 Oligodontia C4082304 disease Congenital Abnormality HP:0000152 Abnormality of head or neck DOID:7 disease of anatomical entity T019 Congenital Abnormality 62 BXGD022091 Deaf Mutism C4082305 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD022092 Abnormality of limb bone morphology C4082761 disease Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD022093 Gastrointestinal infection C4082764 disease C23;C06;C01 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T047 Disease or Syndrome 17 BXGD022094 Chronic Traumatic Encephalopathy C4082769 disease C10;C26 Nervous System Diseases; Wounds and Injuries Disease or Syndrome T047 Disease or Syndrome 12 BXGD022095 Necrotizing enterocolitis in fetus OR newborn C4082937 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 210 BXGD022096 Progressive spinal muscular atrophy C4082951 G12.25 disease C10 Nervous System Diseases Disease or Syndrome HP:0003011 Abnormality of the musculature T047 Disease or Syndrome 1 BXGD022097 Unilateral lung agenesis C4082952 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality HP:0002086 Abnormality of the respiratory system T019 Congenital Abnormality 2 BXGD022098 Hypoplasia of right ventricle C4082954 phenotype Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 4 BXGD022099 Dupuytren's Disease C4082974 disease C04;C17;C05 Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 59 BXGD022100 Guillain-Barre Syndrome, Familial C4083008 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 54 BXGD022101 MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO C4083047 phenotype Finding T033 Finding 1 BXGD022102 Tooth agenesis C4083050 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 2 BXGD022103 Basal cell carcinoma, nodular C4083056 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD022104 Increased head circumference C4083076 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 11 BXGD022105 Alopecia, Male Pattern C4083212 L64 disease C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 91 BXGD022106 DEAFNESS, AUTOSOMAL RECESSIVE 97 C4084709 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022107 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U C4084821 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD022108 MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL C4084823 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD022109 FANCONI ANEMIA, COMPLEMENTATION GROUP T C4084840 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022110 Hereditary Hyperekplexia C4084968 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD022111 MYOCLONIC-ATONIC EPILEPSY C4085238 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD022112 MEND SYNDROME C4085243 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD022113 OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO C4085248 phenotype Finding T033 Finding 2 BXGD022114 PAGET DISEASE OF BONE 2, EARLY-ONSET C4085251 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD022115 PAGET DISEASE OF BONE 3 C4085252 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD022116 Fibromatosis, Palmar C4085370 disease C04;C17;C05 Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD022117 Carbamoyl Phosphate Synthase 1 Deficiency C4085580 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD022118 MENTAL RETARDATION, X-LINKED 102 C4085582 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022119 Cone-Rod Dystrophies C4085590 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 86 BXGD022120 AL-RAQAD SYNDROME C4085595 disease Disease or Syndrome T047 Disease or Syndrome 17 BXGD022121 LUSCAN-LUMISH SYNDROME C4085873 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD022122 Childhood Anaplastic Ependymoma C4086151 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 9 BXGD022123 Childhood Astrocytoma C4086152 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 615 BXGD022124 Childhood Ganglioneuroblastoma C4086158 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 27 BXGD022125 Childhood Gastrointestinal Stromal Tumor C4086159 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 11 BXGD022126 Childhood Neuroblastoma C4086165 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2420 BXGD022127 Childhood Small Intestinal Carcinoma C4086171 disease Neoplastic Process T191 Neoplastic Process 4 BXGD022128 Childhood Thyroid Gland Papillary Carcinoma C4086178 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD022129 Ventilatory Threshold C4086945 phenotype Sign or Symptom T184 Sign or Symptom 10 BXGD022130 Woodchuck Hepatocellular Carcinoma C4086965 disease Neoplastic Process T191 Neoplastic Process 2 BXGD022131 Non-cirrhotic portal hypertension C4087121 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022132 Immunoglobulin G4-Related Disease C4087124 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 80 BXGD022133 Skin squamous cell carcinoma metastatic C4087141 disease Neoplastic Process T191 Neoplastic Process 8 BXGD022134 Locomotive syndrome C4087189 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022135 Sulcus vocalis C4087190 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022136 Paravalvular aortic regurgitation C4087191 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022137 Sensory processing disorder C4087194 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022138 Ectopic posterior pituitary gland C4087197 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022139 Persistent depressive disorder C4087263 F34.1 disease F03 Mental Disorders Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD022140 C3 glomerulopathy C4087273 disease Disease or Syndrome T047 Disease or Syndrome 16 BXGD022141 Cardiac steatosis C4087291 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD022142 Muscle hypoxia C4087316 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD022143 Mite allergy C4087338 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD022144 Autosomal dominant cerebellar ataxia C4087347 disease Disease or Syndrome T047 Disease or Syndrome 31 BXGD022145 Marginal zone lymphoma refractory C4087393 disease Neoplastic Process T191 Neoplastic Process 2 BXGD022146 Mammary gland tumor C4087397 disease Neoplastic Process T191 Neoplastic Process 22 BXGD022147 Oncogenic hypophosphataemic osteomalacia C4087411 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD022148 HIV viraemia C4087436 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 32 BXGD022149 Urothelial cancer of renal pelvis C4087468 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD022150 Reed syndrome C4087475 disease Neoplastic Process T191 Neoplastic Process 1 BXGD022151 Neuromyelitis optica attack C4087479 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022152 Abdominal tuberculosis C4087490 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022153 End stage COPD C4087491 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD022154 Familial LCAT deficiency C4087498 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD022155 Giant platelet disorder C4087502 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD022156 Peritoneal dissemination C4087504 disease Neoplastic Process T191 Neoplastic Process 170 BXGD022157 Central neuropathic pain C4087506 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD022158 Adjacent segment disease C4087521 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022159 Functional neurological symptom disorder C4087538 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD022160 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 C4225153 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022161 ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY C4225155 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022162 MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 C4225156 disease Mental or Behavioral Dysfunction DOID:630;DOID:150 genetic disease; disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD022163 NUDT15 deficiency C4225160 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022164 MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) C4225163 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD022165 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 C4225164 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 2 BXGD022166 SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY C4225167 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022167 MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO C4225174 disease Finding T033 Finding 1 BXGD022168 Childhood-onset spasticity with hyperglycinemia C4225178 disease C23;C16;C18;C05;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022169 EVEN-PLUS SYNDROME C4225180 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022170 MYOPATHY, SCAPULOHUMEROPERONEAL C4225181 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022171 BRACHYDACTYLY, TYPE A1, D C4225183 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022172 MEIER-GORLIN SYNDROME 6 C4225188 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD022173 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3 C4225194 disease Finding T033 Finding 1 BXGD022174 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 C4225200 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD022175 SPINOCEREBELLAR ATAXIA 42 C4225205 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022176 OOCYTE MATURATION DEFECT 2 C4225210 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022177 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 C4225211 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022178 AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE C4225218 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022179 IMMUNODEFICIENCY 46 C4225219 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022180 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 C4225220 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022181 TAKENOUCHI-KOSAKI SYNDROME C4225222 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022182 OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES C4225227 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022183 CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES C4225229 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022184 TOOTH AGENESIS, SELECTIVE, 7 C4225231 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022185 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 C4225237 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD022186 DEAFNESS, AUTOSOMAL DOMINANT 69 C4225241 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022187 DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 C4225242 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022188 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z C4225243 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022189 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y C4225244 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022190 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 C4225245 phenotype Finding DOID:7 disease of anatomical entity T033 Finding 1 BXGD022191 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 C4225251 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD022192 IMMUNODEFICIENCY 45 C4225252 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022193 SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY C4225254 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022194 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 C4225256 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD022195 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 C4225257 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD022196 SMITH-KINGSMORE SYNDROME C4225259 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022197 IMMUNODEFICIENCY 44 C4225260 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022198 POROKERATOSIS 9, MULTIPLE TYPES C4225262 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022199 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W C4225265 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022200 IMMUNODEFICIENCY 42 C4225266 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022201 CUTIS LAXA, AUTOSOMAL DOMINANT 3 C4225268 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022202 Kosaki overgrowth syndrome C4225270 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD022203 SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE C4225272 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022204 SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE C4225273 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022205 AU-KLINE SYNDROME C4225274 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022206 MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 C4225275 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 9 BXGD022207 IMMUNODEFICIENCY, COMMON VARIABLE, 12 C4225277 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022208 GLIOMA SUSCEPTIBILITY 9 C4225278 disease Finding T033 Finding 1 BXGD022209 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION C4225288 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022210 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 C4225291 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022211 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7 C4225294 phenotype Finding T033 Finding 1 BXGD022212 POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS C4225295 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022213 ACHROMATOPSIA 7 C4225297 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022214 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14 C4225299 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD022215 CATARACT 44 C4225300 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022216 OSTEOGENESIS IMPERFECTA, TYPE XVII C4225301 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022217 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V C4225306 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022218 EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY C4225309 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022219 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 C4225312 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022220 ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE C4225317 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD022221 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 C4225320 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD022222 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 C4225325 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022223 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 C4225326 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD022224 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 C4225330 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022225 LEUKODYSTROPHY, HYPOMYELINATING, 10 C4225332 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022226 HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION C4225333 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022227 AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE C4225334 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022228 MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE C4225338 disease Disease or Syndrome DOID:630;DOID:7;DOID:0080015 genetic disease; disease of anatomical entity; physical disorder T047 Disease or Syndrome 1 BXGD022229 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2 C4225339 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022230 BRUGADA SYNDROME 9 C4225340 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022231 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G C4225345 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022232 MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA C4225349 disease Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 1 BXGD022233 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 C4225350 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD022234 MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 C4225352 disease Mental or Behavioral Dysfunction DOID:630;DOID:150 genetic disease; disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD022235 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 C4225355 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022236 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 C4225357 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD022237 LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA C4225359 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022238 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30 C4225360 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD022239 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 C4225361 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD022240 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 C4225362 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 2 BXGD022241 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 C4225363 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 3 BXGD022242 MYASTHENIC SYNDROME, CONGENITAL, 18 C4225364 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD022243 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 C4225365 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD022244 MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY C4225368 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022245 MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL C4225369 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD022246 MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY C4225370 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022247 MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL C4225371 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022248 MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL C4225372 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022249 MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY C4225373 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022250 MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL C4225374 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022251 MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 C4225375 disease Mental or Behavioral Dysfunction DOID:630;DOID:150 genetic disease; disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD022252 LIPOYLTRANSFERASE 1 DEFICIENCY C4225379 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022253 SINGLETON-MERTEN SYNDROME 2 C4225380 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD022254 PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS C4225381 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD022255 LICHTENSTEIN-KNORR SYNDROME C4225383 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022256 OPTIC ATROPHY 9 C4225384 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD022257 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 C4225388 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD022258 MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY C4225391 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022259 MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 C4225396 disease Mental or Behavioral Dysfunction DOID:630;DOID:150 genetic disease; disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD022260 ATAXIA-OCULOMOTOR APRAXIA 4 C4225397 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022261 CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY C4225398 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD022262 SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES C4225399 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD022263 INTERSTITIAL LUNG AND LIVER DISEASE C4225400 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD022264 PREMATURE OVARIAN FAILURE 10 C4225402 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022265 ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE C4225404 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022266 MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL C4225405 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD022267 DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS C4225411 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022268 Spondylo-ocular syndrome C4225412 disease Disease or Syndrome T047 Disease or Syndrome 24 BXGD022269 MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL C4225413 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD022270 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24 C4225414 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022271 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 C4225415 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD022272 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 C4225417 disease Mental or Behavioral Dysfunction DOID:630;DOID:150 genetic disease; disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD022273 MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 C4225418 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022274 LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3 C4225421 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022275 ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY C4225425 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD022276 THYROID CANCER, NONMEDULLARY, 2 C4225426 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 6 BXGD022277 SINGLETON-MERTEN SYNDROME 1 C4225427 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022278 ANEMIA, SIDEROBLASTIC, 4 C4225428 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022279 OBESITY (BMIQ14), SUSCEPTIBILITY TO C4225492 phenotype Finding T033 Finding 1 BXGD022280 THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC C4225553 phenotype Finding T033 Finding 1 BXGD022281 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y C4225578 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022282 INCONTINENTIA PIGMENTI, ATYPICAL C4225596 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022283 TRANSFERRIN VARIANT D(CHI) C4225610 phenotype Finding T033 Finding 1 BXGD022284 SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS C4225629 phenotype Finding T033 Finding 1 BXGD022285 SPITZ NEVUS, SOMATIC C4225656 disease Neoplastic Process T191 Neoplastic Process 1 BXGD022286 NEVUS SPILUS, SOMATIC C4225657 phenotype Finding T033 Finding 1 BXGD022287 CHROMOSOME 15q14 DELETION SYNDROME C4225666 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022288 CHROMOSOME 16p13.2 DELETION SYNDROME C4225667 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022289 VATER/VACTERL ASSOCIATION C4225671 disease Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 8 BXGD022290 Cardiomyocyte hypertrophy C4227331 phenotype Finding HP:0025354;HP:0001626 Abnormal cellular phenotype; Abnormality of the cardiovascular system T033 Finding 3 BXGD022291 Oocyte arrest at metaphase I C4227845 phenotype Cell or Molecular Dysfunction HP:0000119 Abnormality of the genitourinary system T049 Cell or Molecular Dysfunction 1 BXGD022292 Abnormality of radial ray C4228778 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 34 BXGD022293 Distal acroosteolysis C4229131 phenotype Finding T033 Finding 1 BXGD022294 Early-onset coronary artery disease C4229399 phenotype Finding T033 Finding 1 BXGD022295 Heart defect (in some patients) C4229649 phenotype Finding T033 Finding 1 BXGD022296 Pterygium colli (in some patients) C4229650 phenotype Finding T033 Finding 1 BXGD022297 Hypertelorism/telecanthus C4229651 phenotype Finding T033 Finding 1 BXGD022298 Eye coloboma (in some patients) C4229652 phenotype Finding T033 Finding 1 BXGD022299 Trigonocephaly/metopic ridge C4229653 phenotype Finding T033 Finding 1 BXGD022300 Fetal hydrops (in some patients) C4230920 phenotype Finding T033 Finding 1 BXGD022301 Pectus (in some patients) C4231117 phenotype Finding T033 Finding 1 BXGD022302 Kyphosis/scoliosis (in some patients) C4231118 phenotype Finding T033 Finding 1 BXGD022303 Prominent nasal root on profile C4231120 phenotype Finding T033 Finding 1 BXGD022304 Large, squared nose tip C4231121 phenotype Finding T033 Finding 1 BXGD022305 Retrognathia (in some patients) C4231123 phenotype Finding T033 Finding 1 BXGD022306 Prominent/full/wide cheeks C4231124 phenotype Finding T033 Finding 1 BXGD022307 Obstructive sleep apnea hypopnea C4237227 G47.33 disease Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 3 BXGD022308 Opioid use disorder, severe C4237239 F11.20 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD022309 Overweight or obesity C4237343 phenotype Disease or Syndrome T047 Disease or Syndrome 35 BXGD022310 Non-ST Elevated Myocardial Infarction C4255010 disease C23;C14 Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 85 BXGD022311 Familial Hyperekplexia C4255079 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022312 Isolated polycystic liver disease C4255088 disease C23;C06;C04 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Disease or Syndrome T047 Disease or Syndrome 7 BXGD022313 Bilateral Vestibulopathy C4255193 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD022314 Frontal fibrosing alopecia C4255374 disease Disease or Syndrome T047 Disease or Syndrome 11 BXGD022315 Familial malignant neoplasm of pancreas C4255450 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 5 BXGD022316 Mixed carcinoma C4264446 disease Neoplastic Process T191 Neoplastic Process 3 BXGD022317 Poorly cohesive carcinoma C4264447 disease Neoplastic Process T191 Neoplastic Process 5 BXGD022318 Thyroid tumor metastasis C4266441 disease Neoplastic Process T191 Neoplastic Process 3 BXGD022319 Fetal abnormality C4266451 disease Congenital Abnormality T019 Congenital Abnormality 3 BXGD022320 Monoclonal mast cell activation syndrome C4267893 D89.41 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022321 Obesity hypoventilation syndrome (OHS) C4268182 E66.2 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD022322 Food-protein induced enterocolitis syndrome C4268599 K52.21 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD022323 Irritable bowel syndrome with constipation C4268639 K58.1 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD022324 Mixed irritable bowel syndrome C4268640 K58.2 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022325 Tumor necrosis factor receptor associated periodic syndrome [TRAPS] C4268691 M04.1 disease Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 6 BXGD022326 Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome [PFAPA] C4268694 M04.8 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022327 Age-related sarcopenia C4268741 M62.84 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD022328 Atypical femoral fracture C4268744 M84.75 phenotype Pathologic Function T046 Pathologic Function 12 BXGD022329 Chronic bladder pain C4269195 R39.82 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD022330 Autosomal Recessive Osteopetrosis C4272578 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 24 BXGD022331 Autosomal Dominant Osteopetrosis C4272579 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD022332 Graham Little Piccardi Lassueur syndrome C4273658 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022333 Inherited predisposition to essential thrombocythemia C4273671 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD022334 Peripheral resistance to thyroid hormone C4273673 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD022335 Autosomal recessive limb girdle muscular dystrophy type 2B C4273680 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022336 Folinic acid responsive seizure syndrome C4273952 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022337 Obesity due to melanocortin 4 receptor deficiency C4273958 disease C23;C16;C18 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022338 Familial pseudohyperkalemia C4273970 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022339 Benign adult familial myoclonic epilepsy C4273988 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD022340 Autosomal recessive sideroblastic anemia C4274077 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD022341 Hyperinsulinism due to HNF4A deficiency C4274078 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022342 Autosomal dominant hyperinsulinism due to SUR1 deficiency C4274080 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022343 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency C4274081 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022344 Pelizaeus Merzbacher like disease C4274084 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD022345 Syndromic recessive X-linked ichthyosis C4274085 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022346 Autosomal dominant Charcot-Marie-Tooth disease type 2D C4274109 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD022347 Joubert syndrome with ocular defect C4274118 disease C16;C13;C11;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD022348 Spinocerebellar ataxia type 15/16 C4274322 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022349 Genetic recurrent myoglobinuria C4274324 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Finding T033 Finding 3 BXGD022350 Solitary rectal ulcer syndrome C4274343 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD022351 Chronic intestinal failure C4274352 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD022352 Autosomal dominant late onset Parkinson disease C4274355 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD022353 Dominant beta-thalassemia C4274391 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD022354 Epstein-Barr virus associated gastric carcinoma C4274414 disease Neoplastic Process T191 Neoplastic Process 20 BXGD022355 Logopenic progressive aphasia C4274665 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 4 BXGD022356 Jeavons syndrome C4274731 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD022357 Multiple endocrine neoplasia type 4 C4274947 disease C16;C04;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD022358 Lissencephaly with cerebellar hypoplasia C4274995 disease C16;C10;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 4 BXGD022359 Familial Creutzfeldt-Jakob C4275003 disease C01;C10;F03 Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD022360 Multiple epiphyseal dysplasia type 1 C4275061 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022361 Intestinal epithelial dysplasia C4275062 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD022362 Transthyretin related familial amyloid cardiomyopathy C4275067 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022363 Atypical Werner syndrome C4275075 disease C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 4 BXGD022364 Posterior cortical atrophy syndrome C4275079 disease Disease or Syndrome T047 Disease or Syndrome 12 BXGD022365 Hereditary glucocorticoid resistance C4275153 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022366 Autosomal dominant optic atrophy plus syndrome C4275164 disease C23;C18;C11;C05;C10;C14 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022367 Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 C4275170 disease C23;C16;C11;C10;F01;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD022368 Young onset Parkinson disease C4275179 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 51 BXGD022369 Familial hypoaldosteronism C4275180 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022370 Autosomal recessive limb girdle muscular dystrophy type 2A C4275181 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022371 Sudden sensorineural hearing loss C4275242 disease C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 72 BXGD022372 Breast Cancer Lymphedema C4277512 phenotype C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD022373 Cerebrospinal Fluid Hypovolemia C4277521 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022374 Dissection, Blood Vessel C4277533 phenotype C14 Cardiovascular Diseases Pathologic Function T046 Pathologic Function 5 BXGD022375 Acute Febrile Encephalopathy C4277639 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022376 Chemical and Drug Induced Liver Injury C4277682 disease C06;C25 Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 461 BXGD022377 Ciliopathies C4277690 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality T019 Congenital Abnormality 241 BXGD022378 Chemically-Induced Liver Toxicity C4279912 disease C06;C25 Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome T047 Disease or Syndrome 412 BXGD022379 Cleft alveolar process of maxilla C4280276 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 1 BXGD022380 Bilateral nanophthalmos C4280422 disease Congenital Abnormality HP:0000478 Abnormality of the eye T019 Congenital Abnormality 1 BXGD022381 Increased size of the mandible C4280644 phenotype Finding HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 2 BXGD022382 Velopharyngeal dysfunction C4280669 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 18 BXGD022383 Gastrojejunal tube feeding in infancy C4280681 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 1 BXGD022384 Proximal upper limb muscle hypertrophy C4280686 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 2 BXGD022385 Reduced prothrombin antigen C4280698 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 2 BXGD022386 Reduced euglobulin clot lysis time C4280701 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD022387 Reduced antithrombin antigen C4280702 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD022388 Impaired neutrophil chemotaxis C4280709 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD022389 Leukocyte inclusion bodies C4280711 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD022390 Delayed onset bleeding C4280712 phenotype Pathologic Function HP:0001871 Abnormality of blood and blood-forming tissues T046 Pathologic Function 2 BXGD022391 Decreased level of plasminogen C4280715 phenotype Finding HP:0001939;HP:0001871 Abnormality of metabolism/homeostasis; Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD022392 Abnormal cardiac ventricular function C4280733 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 6 BXGD022393 Facet joint arthrosis C4280734 disease Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 1 BXGD022394 Large knee C4280736 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD022395 Large elbow C4280737 phenotype Finding HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T033 Finding 1 BXGD022396 Low pulse pressure C4280743 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 1 BXGD022397 Choking episodes C4280747 phenotype Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 12 BXGD022398 Orange discoloured tonsils C4280753 phenotype Finding HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system T033 Finding 1 BXGD022399 Fast-growing nails C4280757 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD022400 Increased C-peptide level C4280763 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD022401 Reduced C-peptide level C4280764 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 2 BXGD022402 Abnormal C-peptide level C4280765 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 14 BXGD022403 Abnormal serum interleukin level C4280772 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 6 BXGD022404 Increased circulating free fatty acid level C4280773 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 2 BXGD022405 Modic type vertebral endplate changes C4280778 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 1 BXGD022406 Pulmonary venous occlusion C4280802 phenotype Finding HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system T033 Finding 2 BXGD022407 Decreased CSF homovanillic acid C4280803 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 7 BXGD022408 Percussion-induced rapid rolling muscle contractions C4280804 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 2 BXGD022409 Calcium oxalate kidney stones C4280806 disease Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 4 BXGD022410 Undifferentiated large cell carcinoma C4280863 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD022411 FRONTOMETAPHYSEAL DYSPLASIA 1 C4281559 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 28 BXGD022412 Foot oligodactyly C4281601 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 9 BXGD022413 Mesangial proliferation C4281741 phenotype Cell or Molecular Dysfunction HP:0000119 Abnormality of the genitourinary system T049 Cell or Molecular Dysfunction 2 BXGD022414 Thin eyebrow C4281771 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 12 BXGD022415 Childhood Absence Epilepsy C4281785 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 33 BXGD022416 Presence of foam cells C4281786 phenotype C14 Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 5 BXGD022417 Spongiform encephalopathy C4281802 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 14 BXGD022418 Neonatal respiratory distress C4281993 phenotype C08 Respiratory Tract Diseases Finding HP:0002086 Abnormality of the respiratory system T033 Finding 64 BXGD022419 Senile hyperkeratosis C4282032 disease Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm T191 Neoplastic Process 1 BXGD022420 PATENT DUCTUS ARTERIOSUS 1 C4282128 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 229 BXGD022421 Sialidase deficiency C4282398 disease C16;C18;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD022422 Polydactyly, Postaxial, Type A1 C4282400 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:0080015 physical disorder T047 Disease or Syndrome 3 BXGD022423 Sparse and thin eyebrow C4282407 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 68 BXGD022424 Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency C4283745 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022425 ITK Deficiency C4283841 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD022426 Anaplastic Pleomorphic Xanthoastrocytoma C4283858 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 10 BXGD022427 Primary adenocarcinoma of lower third of esophagus due to Barrett esophagus C4283978 disease Neoplastic Process T191 Neoplastic Process 31 BXGD022428 Primary cholangiocarcinoma of intrahepatic biliary tract C4284013 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 274 BXGD022429 Collapsed Lung C4284020 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022430 Benign endometrial stromal neoplasm C4284031 disease Neoplastic Process T191 Neoplastic Process 2 BXGD022431 FIGO Stage III Ovarian Cancer C4284040 disease Neoplastic Process T191 Neoplastic Process 3 BXGD022432 HEMOGLOBIN AUBENAS PHENOTYPE C4284047 phenotype Finding T033 Finding 1 BXGD022433 HEMOGLOBIN GAMBARA PHENOTYPE C4284050 phenotype Finding T033 Finding 1 BXGD022434 MIRAGE SYNDROME C4284088 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 8 BXGD022435 FANCONI ANEMIA, COMPLEMENTATION GROUP R C4284093 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022436 Ecstasy related disorders C4284120 F16 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 15 BXGD022437 Severe Fever with Thrombocytopenia Syndrome C4284413 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 55 BXGD022438 AORTIC ANEURYSM, FAMILIAL THORACIC 10 C4284414 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022439 Perinatal depression in mother C4284586 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 15 BXGD022440 BAND HETEROTOPIA C4284594 disease Disease or Syndrome DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T047 Disease or Syndrome 5 BXGD022441 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 C4284790 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 14 BXGD022442 Adrenal Gland Hyperplasia II C4284917 disease C16;C18;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD022443 Double-Hit Lymphoma C4285066 disease Neoplastic Process T191 Neoplastic Process 24 BXGD022444 METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA C4285231 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022445 Severe asthma with fungal sensitisation C4285683 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022446 HIV-associated neurocognitive disorder C4285693 disease C01;C20 Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 61 BXGD022447 Post cardiac arrest syndrome C4285706 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD022448 Ligamentum flavum hypertrophy C4285709 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD022449 Melatonin deficiency C4285716 disease Disease or Syndrome T047 Disease or Syndrome 16 BXGD022450 Activated PI3 kinase delta syndrome C4285730 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD022451 Delayed ischaemic neurological deficit C4285772 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD022452 Systemic bacterial infection C4285778 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD022453 Kinesiophobia C4285782 disease Disease or Syndrome T047 Disease or Syndrome 14 BXGD022454 Systemic viral infection C4285789 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD022455 Behavioral and psychological symptoms of dementia C4285807 phenotype Sign or Symptom T184 Sign or Symptom 72 BXGD022456 Cortisol deficiency C4285817 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022457 Reduced facial expression C4285818 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022458 Pigment dispersion C4285879 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022459 Carotid artery calcification C4285890 disease Disease or Syndrome HP:0000924;HP:0001626 Abnormality of the skeletal system; Abnormality of the cardiovascular system T047 Disease or Syndrome 5 BXGD022460 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome C4285893 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022461 Pericardial thickening C4285909 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022462 Obstructive sleep apnea hypopnea syndrome C4285910 disease Disease or Syndrome T047 Disease or Syndrome 41 BXGD022463 C5 palsy C4285911 disease Disease or Syndrome T047 Disease or Syndrome 13 BXGD022464 Invasive bacterial infection C4285937 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD022465 Erosive arthritis C4285959 disease Disease or Syndrome T047 Disease or Syndrome 13 BXGD022466 Aeromonas caviae infection C4285990 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022467 Adult separation anxiety disorder C4286032 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD022468 Deforming arthritis C4286047 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022469 Serous Tubal Intraepithelial Carcinoma C4287589 disease Neoplastic Process T191 Neoplastic Process 33 BXGD022470 Thyroid Gland Noninvasive Follicular Neoplasm with Papillary-Like Nuclear Features C4287590 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 13 BXGD022471 Uterine Corpus High Grade Endometrial Stromal Sarcoma C4287594 disease Neoplastic Process T191 Neoplastic Process 15 BXGD022472 Metastatic Malignant Solid Neoplasm C4287832 disease Neoplastic Process T191 Neoplastic Process 1 BXGD022473 MAGT1 Deficiency C4287864 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD022474 WHO Grade III Glioma C4287997 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 10 BXGD022475 Vulvar Adenocarcinoma of Mammary Gland Type C4288013 disease Neoplastic Process T191 Neoplastic Process 2 BXGD022476 Tubulocystic renal cell carcinoma C4288091 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD022477 STAT3 Gain of Function C4288261 phenotype Cell or Molecular Dysfunction T049 Cell or Molecular Dysfunction 1 BXGD022478 Refractory Adult Acute Lymphoblastic Leukemia C4288302 disease Neoplastic Process T191 Neoplastic Process 11 BXGD022479 Recurrent Lung Non-Squamous Non-Small Cell Carcinoma C4288304 disease Neoplastic Process T191 Neoplastic Process 1 BXGD022480 Recurrent Glioblastoma C4288305 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 51 BXGD022481 Perforin Deficiency C4288409 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD022482 Ovotesticular Differences of Sex Development C4288538 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality T019 Congenital Abnormality 6 BXGD022483 Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted C4288558 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD022484 Metastatic urothelial carcinoma C4288754 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 28 BXGD022485 Metastatic Lung Non-Squamous Non-Small Cell Carcinoma C4288755 disease Neoplastic Process T191 Neoplastic Process 2 BXGD022486 Infant T Acute Lymphoblastic Leukemia C4288891 disease Neoplastic Process T191 Neoplastic Process 75 BXGD022487 Infant Acute Undifferentiated Leukemia C4288892 disease Neoplastic Process T191 Neoplastic Process 14 BXGD022488 Infant Acute Biphenotypic Leukemia C4288893 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 10 BXGD022489 IFN-gamma Receptor 1 Deficiency C4288927 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD022490 Hyperkalemic Mineralocorticoid Resistance C4288936 disease Disease or Syndrome T047 Disease or Syndrome 22 BXGD022491 Epithelioid glioblastoma C4289580 disease Neoplastic Process T191 Neoplastic Process 24 BXGD022492 RELA fusion-positive ependymoma C4289581 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD022493 Diffuse midline glioma, point mutation K27M in histone H3 C4289688 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD022494 Diffuse Glioma C4289690 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 9 BXGD022495 Diffuse Astrocytoma, IDH-Wildtype C4289691 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD022496 DOCK8 Deficiency C4289709 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD022497 Chronic Active EBV Infection of T-and NK-Cell Type, Systemic Form C4289792 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 22 BXGD022498 Rhabdomyosarcoma of cervix uteri C4289809 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD022499 B Acute Lymphoblastic Leukemia, Philadelphia Chromosome Negative C4289946 disease Neoplastic Process T191 Neoplastic Process 8 BXGD022500 Atypical Endometriosis C4289955 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 3 BXGD022501 Anaplastic Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted C4289979 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD022502 Anaplastic Astrocytoma, IDH-Wildtype C4289980 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD022503 Anaplastic Astrocytoma, IDH-Mutant C4289981 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD022504 Aldosterone Synthase Deficiency C4289986 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022505 Adenosine Deaminase 2 Deficiency C4289994 D81.32 disease C17;C14 Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD022506 acute flaccid myelitis C4290000 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD022507 trachomatis C4290046 A56 disease Disease or Syndrome T047 Disease or Syndrome 175 BXGD022508 recurrent myocardial infarction C4290140 I22 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 22 BXGD022509 Abnormality of enteric ganglion morphology C4293671 phenotype Anatomical Abnormality HP:0025031;HP:0000707 Abnormality of the digestive system; Abnormality of the nervous system T190 Anatomical Abnormality 1 BXGD022510 Anti-liver cytosolic antigen type 1 antibody positivity C4293676 phenotype Laboratory or Test Result HP:0002715 Abnormality of the immune system T034 Laboratory or Test Result 1 BXGD022511 Glabellar reflex C4293678 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD022512 Periventricular white matter hyperdensities C4293686 phenotype Pathologic Function HP:0000707 Abnormality of the nervous system T046 Pathologic Function 4 BXGD022513 Abnormal proerythroblast morphology C4293689 phenotype Cell or Molecular Dysfunction HP:0001871 Abnormality of blood and blood-forming tissues T049 Cell or Molecular Dysfunction 1 BXGD022514 Status cribrosum C4293701 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 1 BXGD022515 Recurrent paroxysmal headache C4293708 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 16 BXGD022516 Emotional neglect C4296683 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 7 BXGD022517 Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) C4296890 disease Neoplastic Process T191 Neoplastic Process 2 BXGD022518 Neuroendocrine tumor G2 (NET G2) C4296893 disease Neoplastic Process T191 Neoplastic Process 5 BXGD022519 Hyperplastic polyposis syndrome C4296896 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 9 BXGD022520 Basal epidermolysis bullosa simplex C4302031 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD022521 Ischemic vascular dementia C4302061 disease C10;F03;C14 Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD022522 Silent cerebral infarct C4302087 phenotype C23;C10;C14 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022523 IgG4-related sclerosing cholangitis C4302109 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD022524 Autoimmune myopathy C4302167 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD022525 Atypical Parkinsonism C4302185 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 30 BXGD022526 Hypocalcemic rickets C4302195 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022527 Macroprolactinemia C4302197 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022528 Familial hyperthyroidism C4302198 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022529 Congenital central hypothyroidism C4302200 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD022530 Neonatal thrombosis of cerebral venous sinus C4302205 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022531 Perinatal arterial ischemic stroke C4302206 P91.82 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022532 Groove pancreatitis C4302244 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022533 Dengue with warning signs C4302250 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD022534 Dengue without warning signs C4302251 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 5 BXGD022535 Primary lactase deficiency C4302261 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022536 Cryptogenic multifocal ulcerous stenosing enteritis C4302263 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022537 Familial hemolytic uremic syndrome C4302342 disease C13;C12;C15 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD022538 Occupational cancer of skin C4302347 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD022539 Primary low grade serous adenocarcinoma of ovary C4302356 disease Neoplastic Process T191 Neoplastic Process 1 BXGD022540 Benign lymphoepithelial lesion of lacrimal gland C4302370 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022541 Non-amnestic Alzheimer disease C4302404 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD022542 Pancreatitis due to pancreatic duct obstruction C4302455 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD022543 Dysspondyloenchondromatosis C4302548 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022544 Autosomal dominant beta2-microglobulinic amyloidosis C4302669 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022545 Malignancy-associated membranous nephropathy C4302857 disease C13;C12;C20 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD022546 Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome C4302893 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022547 Hormone sensitive prostate cancer C4302896 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 27 BXGD022548 Robinow-like syndrome C4302956 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022549 Infection caused by Loa C4303085 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD022550 Cystic echinococcosis C4303092 phenotype C23;C04;C01 Pathological Conditions, Signs and Symptoms; Neoplasms; Infections Disease or Syndrome T047 Disease or Syndrome 43 BXGD022551 Infection caused by Human T-lymphotropic virus C4303137 disease C01;C20 Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD022552 Meningitis caused by Streptococcus agalactiae C4303148 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD022553 Autoimmune hepatitis type 2 C4303163 disease Disease or Syndrome T047 Disease or Syndrome 16 BXGD022554 Autoimmune hepatitis type 1 C4303164 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD022555 Acute hemorrhagic ulcer of rectum C4303178 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022556 Sepsis caused by Pseudomonas aeruginosa C4303270 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022557 Refractory anemia with ringed sideroblasts associated with marked thrombocytosis C4303426 disease C15 Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD022558 Acquired hearing loss C4303429 phenotype C23;C10;C09 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD022559 Acquired prion disease C4303462 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022560 Hughes Stovin syndrome C4303478 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022561 Homocystinuria without methylmalonic aciduria C4303479 disease C16;C18;C17;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022562 Familial Alzheimer-like prion disease C4303482 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022563 Idiopathic premature ovarian failure C4303510 disease C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD022564 Variably protease sensitive prionopathy C4303527 disease C01;C10 Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022565 Brain dopamine-serotonin vesicular transport disease C4303546 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022566 DEND syndrome C4303593 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD022567 Familial thrombocytosis C4303761 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 7 BXGD022568 Ehlers-Danlos syndrome cardiac valvular type C4303789 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022569 Craniofacial ulnar renal syndrome C4303860 disease Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 3 BXGD022570 Autosomal dominant macrothrombocytopenia C4304021 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD022571 Primary seminoma C4304144 disease Neoplastic Process T191 Neoplastic Process 1 BXGD022572 Dark yellow urine C4304293 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 1 BXGD022573 X-linked sideroblastic anemia with spinocerebellar ataxia C4304338 disease C16;C10;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022574 X-linked hereditary sensory and autonomic neuropathy with deafness C4304400 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022575 Xeroderma pigmentosum and Cockayne syndrome complex C4304411 disease C16;C04;C18;C17;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD022576 8p11.2 deletion syndrome C4304505 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022577 5q35 microduplication syndrome C4304526 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022578 6q25 microdeletion syndrome C4304527 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022579 2p21 microdeletion syndrome C4304537 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD022580 20p12.3 microdeletion syndrome C4304539 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022581 1p21.3 microdeletion syndrome C4304578 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD022582 Benign concentric annular macular dystrophy C4304667 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD022583 Cone dystrophy with supernormal rod response C4304714 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD022584 Leber plus disease C4304725 disease C16;C18;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD022585 Primary pigmented nodular adrenocortical disease C4304832 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 22 BXGD022586 Progressive cavitating leukoencephalopathy C4304840 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022587 Recurrent squamous cell carcinoma C4304995 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD022588 X-linked intellectual disability Van Esch type C4305072 phenotype C23;C16;C10;C19;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD022589 Congenital analbuminemia C4305253 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022590 Osteomalacia due to vitamin D deficiency C4305457 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022591 Neuroendocrine tumor of pancreas C4305467 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD022592 Metaplastic gastritis C4305503 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD022593 Dent disease type 2 C4305529 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022594 Dent disease type 1 C4305530 disease C16;C13;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD022595 Hypercalcemia, Infantile, 1 C4310232 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD022596 Hypercalcemia, infantile, 2 C4310473 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD022597 Sporadic CJD C4310512 disease C01;C10;F03;C22 Infections; Nervous System Diseases; Mental Disorders; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 30 BXGD022598 OTULIN-related autoinflammatory syndrome C4310614 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD022599 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS C4310617 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022600 HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME C4310618 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022601 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59 C4310619 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022602 Yao syndrome C4310620 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD022603 ANTERIOR SEGMENT DYSGENESIS 6 C4310623 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022604 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS C4310625 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022605 MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME C4310627 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022606 LYMPHATIC MALFORMATION 7 C4310629 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022607 EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT C4310632 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022608 DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES C4310634 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022609 TOOTH AGENESIS, SELECTIVE, 9 C4310638 disease Congenital Abnormality T019 Congenital Abnormality 6 BXGD022610 GLAUCOMA 3, PRIMARY CONGENITAL, E C4310639 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022611 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII C4310650 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD022612 FANCONI ANEMIA, COMPLEMENTATION GROUP V C4310652 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022613 LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME C4310653 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022614 MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC C4310654 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD022615 MYOPIA 25, AUTOSOMAL DOMINANT C4310655 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022616 MYOCLONUS, INTRACTABLE, NEONATAL C4310658 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022617 PREIMPLANTATION EMBRYONIC LETHALITY 2 C4310659 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022618 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 C4310660 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022619 PERIVENTRICULAR NODULAR HETEROTOPIA 7 C4310669 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022620 LETHAL CONGENITAL CONTRACTURE SYNDROME 11 C4310670 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022621 MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT C4310676 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD022622 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 C4310681 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD022623 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 C4310687 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD022624 SIFRIM-HITZ-WEISS SYNDROME C4310688 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022625 MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) C4310690 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD022626 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 C4310691 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD022627 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET C4310693 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022628 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC C4310694 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022629 FRONTOMETAPHYSEAL DYSPLASIA 2 C4310697 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022630 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 C4310699 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022631 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 C4310700 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD022632 RETINITIS PIGMENTOSA 76 C4310704 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022633 MYOPATHY, MYOFIBRILLAR, 7 C4310711 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD022634 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 C4310712 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD022635 MACULAR DYSTROPHY, PATTERNED, 3 C4310713 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD022636 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 C4310716 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD022637 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 C4310717 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD022638 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY C4310720 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022639 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE C4310723 disease Disease or Syndrome DOID:630;DOID:7;DOID:0080015 genetic disease; disease of anatomical entity; physical disorder T047 Disease or Syndrome 1 BXGD022640 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B C4310725 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022641 SEIZURES, BENIGN FAMILIAL INFANTILE, 5 C4310728 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022642 NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3 C4310729 phenotype Finding T033 Finding 1 BXGD022643 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 C4310734 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022644 PORTAL HYPERTENSION, NONCIRRHOTIC C4310735 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022645 OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME C4310739 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022646 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 C4310747 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022647 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5 C4310748 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD022648 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 C4310749 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD022649 SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE C4310750 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022650 SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS C4310751 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022651 MYOPATHY, DISTAL, 5 C4310754 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022652 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54 C4310755 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022653 HYPERALDOSTERONISM, FAMILIAL, TYPE IV C4310756 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD022654 LETHAL CONGENITAL CONTRACTURE SYNDROME 10 C4310760 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022655 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA C4310761 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022656 SPINOCEREBELLAR ATAXIA 43 C4310763 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022657 MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION C4310766 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022658 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 C4310768 disease Disease or Syndrome T047 Disease or Syndrome 82 BXGD022659 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 C4310773 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD022660 RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS C4310776 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022661 SPERMATOGENIC FAILURE 15 C4310779 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD022662 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 C4310780 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022663 PREMATURE OVARIAN FAILURE 12 C4310782 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022664 PREMATURE OVARIAN FAILURE 11 C4310783 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022665 COFFIN-SIRIS SYNDROME 5 C4310788 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022666 THROMBOCYTOPENIA 6 C4310789 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022667 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 C4310791 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022668 DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET C4310792 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022669 HEART AND BRAIN MALFORMATION SYNDROME C4310793 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022670 MARFAN LIPODYSTROPHY SYNDROME C4310796 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022671 SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE C4310800 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022672 IMMUNODEFICIENCY 51 C4310803 disease Disease or Syndrome DOID:7;DOID:0050117 disease of anatomical entity; disease by infectious agent T047 Disease or Syndrome 1 BXGD022673 BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS C4310805 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD022674 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1 C4310808 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD022675 ANTERIOR SEGMENT DYSGENESIS 5 C4310809 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD022676 ANTISOCIAL BEHAVIOR, SUSCEPTIBILITY TO C4310831 phenotype Finding DOID:0014667;DOID:630 disease of metabolism; genetic disease T033 Finding 1 BXGD022677 SANDHOFF DISEASE, CHRONIC C4310842 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022678 TAY-SACHS DISEASE, JUVENILE/ADULT C4310843 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022679 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A C4310875 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022680 GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY C4310878 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022681 GM2-GANGLIOSIDOSIS, SUBACUTE C4310890 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022682 GM2-GANGLIOSIDOSIS, LATE ONSET C4310891 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022683 BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF C4310892 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022684 GM2-GANGLIOSIDOSIS, ADULT-ONSET C4310893 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022685 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS C4310897 phenotype Finding T033 Finding 1 BXGD022686 SICK SINUS SYNDROME 2 WITH CARDIAC NONCOMPACTION AND ASCENDING AORTA DILATION C4310906 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022687 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE C4310943 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022688 PSEUDOACHONDROPLASIA, SEVERE C4310948 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022689 HB NIIGATA C4310971 phenotype Finding T033 Finding 1 BXGD022690 BETA-THALASSEMIA INTERMEDIA, DOMINANT C4310973 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022691 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA C4310975 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022692 EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA CROSSOVER SYNDROME C4310978 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022693 Bilateral hallux valgus C4313505 phenotype Finding T033 Finding 1 BXGD022694 Hippocampal atrophy C4315130 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 13 BXGD022695 Moderate myopia C4315867 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 2 BXGD022696 Alveolar bone loss around teeth C4315963 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 1 BXGD022697 Abnormality of the intestine C4316788 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 19 BXGD022698 Partial lipodystrophy C4316789 disease C18;C17 Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD022699 Entamoeba histolytica Infection C4316791 A06 disease C01 Infections Disease or Syndrome DOID:0050117 disease by infectious agent T047 Disease or Syndrome 8 BXGD022700 Angiostrongylus Infections C4316792 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD022701 Multiple biliary hamartomas C4316799 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process HP:0025031;HP:0002664 Abnormality of the digestive system; Neoplasm T191 Neoplastic Process 4 BXGD022702 Writer's Cramp C4316810 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 26 BXGD022703 Abnormality of the nasal septum C4316811 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 5 BXGD022704 Fibrinogen Deficiency C4316812 D68.2 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 56 BXGD022705 Dystopia canthorum C4316813 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD022706 Clear cell odontogenic carcinoma C4316837 disease Neoplastic Process T191 Neoplastic Process 4 BXGD022707 Abnormality of the eye C4316870 phenotype Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 56 BXGD022708 Loss of eyelashes C4316878 phenotype Finding HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T033 Finding 4 BXGD022709 Prescription Drug Abuse C4316881 phenotype C25;F03 Chemically-Induced Disorders; Mental Disorders Finding T033 Finding 115 BXGD022710 Cystinosis C4316899 E72.04 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 32 BXGD022711 Absence Seizures C4316903 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 205 BXGD022712 Factor XIII deficiency disease C4316906 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD022713 Marijuana Use C4316909 disease F03;F01 Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 33 BXGD022714 Autoimmune Polyglandular Syndrome C4316913 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 5 BXGD022715 Primary Hypothyroidism C4316995 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system T047 Disease or Syndrome 19 BXGD022716 Arthritis Pain C4317006 phenotype Sign or Symptom T184 Sign or Symptom 9 BXGD022717 Diverticular Diseases C4317009 K57 group C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 83 BXGD022718 Simpson-Golabi-Behmel syndrome C4317043 phenotype C23;C16;C04;C05;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD022719 Gluten intolerance C4317045 disease Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 16 BXGD022720 Hematological abnormality C4317046 disease Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 1 BXGD022721 Infantile hemangioma C4317089 disease C04;C14 Neoplasms; Cardiovascular Diseases Neoplastic Process T191 Neoplastic Process 82 BXGD022722 Trisomy 18 Syndrome C4317091 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 47 BXGD022723 Reduced factor XI activity C4317093 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 7 BXGD022724 Abnormality of the thyroid gland C4317107 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 21 BXGD022725 Epileptic Seizures C4317109 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 250 BXGD022726 Generalized Lipodystrophy C4317112 disease C18;C17 Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome HP:0003549 Abnormality of connective tissue T047 Disease or Syndrome 18 BXGD022727 Myoclonic Seizures C4317123 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 123 BXGD022728 Polynesian Bronchiectasis C4317124 disease C16;C08;C09;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 35 BXGD022729 Niacin deficiency C4317126 E52 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome HP:0001939 Abnormality of metabolism/homeostasis T047 Disease or Syndrome 7 BXGD022730 Acid reflux C4317146 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 50 BXGD022731 Vacuolated Lymphocyte Count C4317149 phenotype Laboratory Procedure T059 Laboratory Procedure 8 BXGD022732 Dimple chin C4317152 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 16 BXGD022733 Simple partial occipital seizures C4317153 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 2 BXGD022734 COLE-CARPENTER SYNDROME 1 C4317154 disease C16;C11;C17;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD022735 Adolescent Obesity C4317171 phenotype C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 18 BXGD022736 Congenital disorder of glycosylation type 1q C4317224 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 9 BXGD022737 Congenital disorder of glycosylation type 1s C4317295 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 19 BXGD022738 Factor V deficiency C4317320 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome HP:0001871 Abnormality of blood and blood-forming tissues T047 Disease or Syndrome 6 BXGD022739 Juvenile Absence Epilepsy C4317339 G40.A disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD022740 Growth Hormone Insensitivity Syndrome C4318479 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 4 BXGD022741 Anaplastic sarcoma C4318844 disease Neoplastic Process T191 Neoplastic Process 2 BXGD022742 Acute severe refractory exacerbation of asthma C4319581 disease C08;C20 Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD022743 Trisomy 13 Syndrome C4319808 disease C16;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality DOID:630 genetic disease T019 Congenital Abnormality 2 BXGD022744 Cleft lip or lips C4321245 phenotype Anatomical Abnormality HP:0000152 Abnormality of head or neck T190 Anatomical Abnormality 78 BXGD022745 Mitochondrial DNA Depletion Syndrome 12 C4321247 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD022746 Consumptive Coagulopathy C4321305 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD022747 Constitutional Mismatch Repair Deficiency Syndrome C4321324 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome T047 Disease or Syndrome 6 BXGD022748 Lupus anticoagulant -- finding C4321325 phenotype Finding HP:0002715 Abnormality of the immune system T033 Finding 5 BXGD022749 Immune-Mediated Coagulopathy C4321358 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD022750 Reduced insulin like growth factor binding protein acid labile subunit level C4321359 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD022751 K ATP Permanent Neonatal Diabetes C4321446 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD022752 Sickle Cell-SS Disease C4321477 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 62 BXGD022753 Factor XI Deficiency C4321502 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD022754 Myokymia of eyelid C4324277 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 1 BXGD022755 Tumour inflammation C4324298 disease Disease or Syndrome T047 Disease or Syndrome 24 BXGD022756 MLASA syndrome C4324304 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD022757 Primary familial brain calcification C4324314 disease C18 Nutritional and Metabolic Diseases Congenital Abnormality T019 Congenital Abnormality 12 BXGD022758 Oral condyloma acuminatum C4324329 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022759 Hyperleukocytosis C4324336 disease Disease or Syndrome T047 Disease or Syndrome 21 BXGD022760 Subfebrile C4324354 phenotype Sign or Symptom T184 Sign or Symptom 1 BXGD022761 End stage lung disease C4324356 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD022762 Renal tubular injury C4324374 disease Disease or Syndrome T047 Disease or Syndrome 36 BXGD022763 Oral candida albicans infection C4324394 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022764 Immune-mediated hepatitis C4324396 disease Disease or Syndrome T047 Disease or Syndrome 15 BXGD022765 Cerebral volume loss C4324406 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD022766 Blood type incompatibility C4324411 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022767 Panniculus C4324434 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD022768 Transformation to acute myeloid leukaemia C4324477 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 16 BXGD022769 Non-compaction cardiomyopathy C4324548 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD022770 Perimyocarditis C4324549 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD022771 Adrenal nodule C4324551 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022772 Neutrophil extracellular trap formation C4324563 disease Disease or Syndrome T047 Disease or Syndrome 55 BXGD022773 Periprocedural myocardial infarction C4324584 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD022774 Opioid use disorder C4324621 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 23 BXGD022775 Non-squamous non-small cell lung cancer C4324656 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 20 BXGD022776 Hypertensive end-organ damage C4324685 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD022777 Pauci-immune glomerulonephritis C4324689 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD022778 Autoimmune thyroid disorder C4324720 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD022779 Radiologically isolated syndrome C4324721 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD022780 Bladder wall thickening C4324732 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022781 Epstein Barr virus positive mucocutaneous ulcer C4324739 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD022782 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency C4329210 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD022783 17-Alpha-Hydroxylase/17,20 Lyase Deficiency C4329212 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD022784 Advanced Head and Neck Carcinoma C4329280 disease Neoplastic Process T191 Neoplastic Process 25 BXGD022785 Advanced Malignant Solid Neoplasm C4329281 disease Neoplastic Process T191 Neoplastic Process 8 BXGD022786 B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like C4329382 disease Neoplastic Process T191 Neoplastic Process 2 BXGD022787 Bovine Protoporphyria C4329489 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022788 Classic Congenital Adrenal Hyperplasia C4329672 disease C16;C18;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD022789 Defective Thyroglobulin Synthesis C4329703 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022790 Diffuse leptomeningeal glioneuronal neoplasm C4329735 disease Neoplastic Process T191 Neoplastic Process 3 BXGD022791 Early T Acute Lymphoblastic Leukemia C4329780 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 7 BXGD022792 Factor VIII Inactivation C4329969 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022793 Feline Lymphoma C4329987 disease Neoplastic Process T191 Neoplastic Process 3 BXGD022794 Feline Mammary Carcinoma C4329988 disease Neoplastic Process T191 Neoplastic Process 14 BXGD022795 Feline Oral Squamous Cell Carcinoma C4329989 disease Neoplastic Process T191 Neoplastic Process 3 BXGD022796 Feline Osteosarcoma C4329990 disease Neoplastic Process T191 Neoplastic Process 2 BXGD022797 Gingival Squamous Cell Carcinoma C4330043 disease Neoplastic Process T191 Neoplastic Process 8 BXGD022798 WHO Grade II Glioma C4330050 disease Neoplastic Process T191 Neoplastic Process 11 BXGD022799 Triple hit lymphoma C4330265 disease Neoplastic Process T191 Neoplastic Process 7 BXGD022800 Large Cell/Anaplastic Medulloblastoma C4330531 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD022801 MGMT-Unmethylated Glioblastoma C4330601 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD022802 Burkitt-Like Lymphoma with 11q Aberration C4330613 disease Neoplastic Process T191 Neoplastic Process 2 BXGD022803 Mammary Analog Secretory Carcinoma of Salivary Gland C4330658 disease Neoplastic Process T191 Neoplastic Process 2 BXGD022804 Medulloblastoma, Non-WNT/Non-SHH C4330667 disease Neoplastic Process T191 Neoplastic Process 4 BXGD022805 Medulloblastoma, SHH-Activated C4330671 disease Neoplastic Process T191 Neoplastic Process 2 BXGD022806 Mitochondrial Diabetes C4330695 disease C18;C19 Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD022807 Nutritional Rickets C4330845 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD022808 Osteoclast-Rich Osteopetrosis C4330904 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022809 Primary Pigmented Nodular Adrenal Dysplasia C4331029 disease Congenital Abnormality T019 Congenital Abnormality 31 BXGD022810 Recurrent Glioma C4331229 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 15 BXGD022811 Rosette-forming glioneuronal neoplasm C4331262 disease Neoplastic Process HP:0000707;HP:0002664 Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 3 BXGD022812 Sacral Chordoma C4331269 disease Neoplastic Process T191 Neoplastic Process 10 BXGD022813 Steroidogenic Acute Regulatory Protein Deficiency C4331349 disease Congenital Abnormality T019 Congenital Abnormality 2 BXGD022814 Vitamin D Dependent Rickets 2 C4331504 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022815 Wolff-Chaikoff Phenomenon C4331762 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD022816 Autosomal Dominant Neurohypophyseal Diabetes Insipidus C4331824 disease C13;C12;C19 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD022817 Obesity-Associated Insulin Resistance C4331921 disease Disease or Syndrome T047 Disease or Syndrome 36 BXGD022818 STAT5B Deficiency C4331952 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022819 Medulloblastoma, WNT-Activated C4331965 disease Neoplastic Process T191 Neoplastic Process 2 BXGD022820 Human Granulocytic Anaplasmosis C4476477 disease C01;C22 Infections; Animal Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD022821 Subperiosteal bone resorption C4476534 phenotype Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 3 BXGD022822 Reduced intrathoracic adipose tissue C4476537 phenotype Finding HP:0003549 Abnormality of connective tissue T033 Finding 2 BXGD022823 Glomerular subendothelial electron-dense deposits C4476539 phenotype Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 1 BXGD022824 Dilatation of the cerebral artery C4476540 phenotype C10;C14 Nervous System Diseases; Cardiovascular Diseases Anatomical Abnormality HP:0000707;HP:0001626 Abnormality of the nervous system; Abnormality of the cardiovascular system T190 Anatomical Abnormality 26 BXGD022825 Complete heart block with broad QRS complexes C4476543 disease Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 1 BXGD022826 Dilatation of the ventricular cavity C4476545 phenotype C14 Cardiovascular Diseases Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 6 BXGD022827 Dilatation of the sinus of Valsalva C4476551 phenotype Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 1 BXGD022828 Atrial septal dilatation C4476553 phenotype Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 3 BXGD022829 Carotid artery dilatation C4476554 phenotype Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 16 BXGD022830 Enlarged mesenteric lymph node C4476563 phenotype Finding HP:0002715;HP:0001626 Abnormality of the immune system; Abnormality of the cardiovascular system T033 Finding 1 BXGD022831 Abnormal brain lactate level by MRS C4476564 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD022832 Abnormal brain choline level by MRS C4476566 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD022833 Reduced brain choline level by MRS C4476567 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD022834 Reduced brain creatine level by MRS C4476570 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD022835 Dysgenesis of the hippocampus C4476591 disease Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 5 BXGD022836 Dysgenesis of the basal ganglia C4476592 disease Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 1 BXGD022837 Reduced red cell pyruvate kinase activity C4476595 phenotype Cell or Molecular Dysfunction HP:0001939;HP:0001871 Abnormality of metabolism/homeostasis; Abnormality of blood and blood-forming tissues T049 Cell or Molecular Dysfunction 1 BXGD022838 Reduced intraabdominal adipose tissue C4476602 phenotype Finding HP:0003549 Abnormality of connective tissue T033 Finding 2 BXGD022839 Decreased small intestinal mucosa lactase activity C4476604 phenotype Finding HP:0025031;HP:0001939 Abnormality of the digestive system; Abnormality of metabolism/homeostasis T033 Finding 2 BXGD022840 Atrophic muscularis propria C4476616 phenotype Pathologic Function HP:0025031 Abnormality of the digestive system T046 Pathologic Function 3 BXGD022841 Poor visual behavior for age C4476619 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 2 BXGD022842 Dependency on intravenous nutrition C4476622 phenotype Finding HP:0025031 Abnormality of the digestive system T033 Finding 3 BXGD022843 Hypoautofluorescent retinal lesion C4476624 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD022844 Abnormal temper tantrums C4476625 disease F01 Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 4 BXGD022845 Ground-glass opacification on pulmonary HRCT C4476639 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 14 BXGD022846 Segmental myoclonic seizures C4476644 phenotype Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 5 BXGD022847 Non-rapid eye movement parasomnia C4476680 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 3 BXGD022848 Anti-glutamic acid decarboxylase antibody positivity C4476703 phenotype Laboratory or Test Result HP:0002715 Abnormality of the immune system T034 Laboratory or Test Result 1 BXGD022849 Upgaze palsy C4476705 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 7 BXGD022850 Delayed ability to stand C4476709 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD022851 Delayed ability to sit C4476710 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD022852 Limbal edema C4476719 phenotype Pathologic Function HP:0000478 Abnormality of the eye T046 Pathologic Function 1 BXGD022853 Anti-multiple nuclear dots antibody positivity C4476723 phenotype Laboratory or Test Result HP:0002715 Abnormality of the immune system T034 Laboratory or Test Result 1 BXGD022854 Abnormal cellular phenotype C4476724 phenotype Cell or Molecular Dysfunction HP:0025354 Abnormal cellular phenotype T049 Cell or Molecular Dysfunction 4 BXGD022855 Retinal arterial macroaneurysms C4476725 phenotype Acquired Abnormality HP:0000152;HP:0000478;HP:0001626 Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system T020 Acquired Abnormality 2 BXGD022856 Erratic myoclonus C4476727 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 3 BXGD022857 Endocapillary hypercellularity C4476732 phenotype Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 6 BXGD022858 Anti-thyroid peroxidase antibody positivity C4476743 phenotype Laboratory or Test Result HP:0002715 Abnormality of the immune system T034 Laboratory or Test Result 3 BXGD022859 Reticular pattern on pulmonary HRCT C4476748 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 14 BXGD022860 Crazy paving pattern on pulmonary HRCT C4476749 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 3 BXGD022861 Stooped posture C4476759 phenotype C10 Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 6 BXGD022862 Visual fixation instability C4476760 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 3 BXGD022863 Abnormal spleen morphology C4476761 phenotype Anatomical Abnormality HP:0025031;HP:0002715;HP:0001626 Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system T190 Anatomical Abnormality 3 BXGD022864 Diffuse alveolar hemorrhage C4476767 disease Disease or Syndrome HP:0001871;HP:0002086;HP:0001626 Abnormality of blood and blood-forming tissues; Abnormality of the respiratory system; Abnormality of the cardiovascular system T047 Disease or Syndrome 21 BXGD022865 Abnormal bronchus physiology C4476771 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 1 BXGD022866 Elevated serum 11-deoxycortisol C4476775 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 1 BXGD022867 Reduced amygdala volume C4476780 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 1 BXGD022868 Testicular adrenal rest tumor C4476786 disease C04;C12;C19 Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm T191 Neoplastic Process 8 BXGD022869 Decreased CSF 5-hydroxyindolacetic acid C4476788 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD022870 Decreased CSF protein C4476790 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD022871 High myoinositol in brain by MRS C4476792 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD022872 Abnormal cell morphology C4476793 phenotype Anatomical Abnormality HP:0025354 Abnormal cellular phenotype T190 Anatomical Abnormality 12 BXGD022873 Abnormality of bladder morphology C4476807 phenotype Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 1 BXGD022874 Class I obesity C4476813 phenotype C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome HP:0001507 Growth abnormality T047 Disease or Syndrome 2 BXGD022875 Nevus sebaceus C4476818 disease C04 Neoplasms Neoplastic Process HP:0001574 Abnormality of the integument T191 Neoplastic Process 1 BXGD022876 Hypoplastic hippocampus C4476822 disease Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 7 BXGD022877 Psoriasiform lesion C4476830 phenotype Finding HP:0001574 Abnormality of the integument T033 Finding 1 BXGD022878 Short bowel C4476847 disease Congenital Abnormality HP:0025031 Abnormality of the digestive system T019 Congenital Abnormality 1 BXGD022879 5-minute APGAR score of 1 C4476851 phenotype Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 1 BXGD022880 1-minute APGAR score of 0 C4476857 phenotype Finding HP:0001197 Abnormality of prenatal development or birth T033 Finding 1 BXGD022881 Palpebral thickening C4476868 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 1 BXGD022882 Elevated gamma-glutamyltransferase activity C4476869 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 3 BXGD022883 Decreased CSF/serum albumin ratio C4476891 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD022884 Reduced brain glutamine level by MRS C4476893 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD022885 Granulomatous cholangitis C4476897 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T047 Disease or Syndrome 2 BXGD022886 Abnormal pancreatic duct morphology C4476900 phenotype Anatomical Abnormality HP:0025031 Abnormality of the digestive system T190 Anatomical Abnormality 5 BXGD022887 Thin-cap fibroatheroma C4476910 phenotype C14 Cardiovascular Diseases Acquired Abnormality HP:0001626 Abnormality of the cardiovascular system T020 Acquired Abnormality 12 BXGD022888 Idiopathic non-cirrhotic portal hypertension C4476912 disease Disease or Syndrome HP:0025031;HP:0001626 Abnormality of the digestive system; Abnormality of the cardiovascular system T047 Disease or Syndrome 2 BXGD022889 Elevated carcinoembryonic antigen level C4476917 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 4 BXGD022890 Elevated carcinoma antigen 125 level C4476918 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 2 BXGD022891 Tarsal sclerosis C4476932 disease Disease or Syndrome HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T047 Disease or Syndrome 1 BXGD022892 Impairment of activities of daily living C4476938 phenotype Finding HP:0025142 Constitutional symptom T033 Finding 3 BXGD022893 Impaired continence C4476943 phenotype Finding HP:0025142 Constitutional symptom T033 Finding 2 BXGD022894 Abnormal response to ACTH stimulation test C4476953 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 2 BXGD022895 Impaired cortisol response to insulin stimulation test C4476955 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 5 BXGD022896 Decreased prealbumin level C4476964 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD022897 Insulin receptor antibody positivity C4476973 phenotype Laboratory or Test Result HP:0002715 Abnormality of the immune system T034 Laboratory or Test Result 2 BXGD022898 Two-raphe bicuspid aortic valve C4476982 disease C14 Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 1 BXGD022899 Impaired clot retraction C4476985 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 2 BXGD022900 Frog-leg posture C4476998 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0003011 Abnormality of the musculature T033 Finding 1 BXGD022901 Impaired oral bolus formation C4477005 phenotype C06;C09 Digestive System Diseases; Otorhinolaryngologic Diseases Finding HP:0025031;HP:0000707 Abnormality of the digestive system; Abnormality of the nervous system T033 Finding 1 BXGD022902 Membranous vitreous appearance C4477006 phenotype Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 1 BXGD022903 Thinning of Descemet membrane C4477011 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 5 BXGD022904 Impaired oropharyngeal swallow response C4477013 phenotype C06;C09 Digestive System Diseases; Otorhinolaryngologic Diseases Finding HP:0025031;HP:0000707 Abnormality of the digestive system; Abnormality of the nervous system T033 Finding 6 BXGD022905 Sectoral retinitis pigmentosa C4477018 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 2 BXGD022906 Finger flexor weakness C4477022 phenotype Finding HP:0040064;HP:0003011 Abnormality of limbs; Abnormality of the musculature T033 Finding 2 BXGD022907 Axial muscle atrophy C4477031 phenotype Finding HP:0003011 Abnormality of the musculature T033 Finding 1 BXGD022908 Abnormal location of the eyebrow C4477036 phenotype Anatomical Abnormality HP:0001574;HP:0000152 Abnormality of the integument; Abnormality of head or neck T190 Anatomical Abnormality 1 BXGD022909 Heliotrope rash C4477048 phenotype C17 Skin and Connective Tissue Diseases Sign or Symptom HP:0001574;HP:0002715 Abnormality of the integument; Abnormality of the immune system T184 Sign or Symptom 2 BXGD022910 Hypoplasia of the olfactory bulb C4477049 disease Congenital Abnormality HP:0000707 Abnormality of the nervous system T019 Congenital Abnormality 5 BXGD022911 Decreased proportion of CD3-positive T cells C4477053 phenotype C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 9 BXGD022912 Limb myoclonus C4477055 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 15 BXGD022913 Fragmented sleep C4477058 phenotype C10;F03 Nervous System Diseases; Mental Disorders Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 5 BXGD022914 Decreased activity of 3-hydroxyacyl-CoA dehydrogenase C4477062 phenotype Finding HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T033 Finding 3 BXGD022915 Unilateral alveolar cleft of maxilla C4477070 disease Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 1 BXGD022916 Iris flocculi C4477072 phenotype Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 2 BXGD022917 Abnormal cardiac exercise stress test C4477077 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 16 BXGD022918 Abnormal serum dehydroepiandrosterone level C4477081 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 1 BXGD022919 Cotton wool plaques C4477086 phenotype C23 Pathological Conditions, Signs and Symptoms Acquired Abnormality HP:0000707 Abnormality of the nervous system T020 Acquired Abnormality 4 BXGD022920 Monoclonal immunoglobulin M proteinemia C4477091 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process HP:0001939;HP:0002715;HP:0002664;HP:0025354;HP:0001871 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Neoplasm; Abnormal cellular phenotype; Abnormality of blood and blood-forming tissues T191 Neoplastic Process 1 BXGD022921 Abnormal visual fixation C4477094 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD022922 Increased lactate dehydrogenase activity C4477095 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 27 BXGD022923 MENTAL RETARDATION, X-LINKED 106 C4478379 disease Mental or Behavioral Dysfunction DOID:630;DOID:150 genetic disease; disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD022924 MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 C4478383 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD022925 Focal cortical dysplasia type IIb C4478701 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 8 BXGD022926 MYASTHENIC SYNDROME, CONGENITAL, 22 C4479088 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD022927 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 C4479208 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD022928 CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER C4479246 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022929 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA C4479250 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022930 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 C4479260 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022931 AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS C4479278 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD022932 ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE C4479322 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022933 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION C4479333 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022934 SCLEROSING CHOLANGITIS, NEONATAL C4479344 disease Disease or Syndrome T047 Disease or Syndrome 39 BXGD022935 BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY C4479431 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022936 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 C4479476 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD022937 LOPES-MACIEL-RODAN SYNDROME C4479491 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022938 BLEEDING DISORDER, PLATELET-TYPE, 21 C4479515 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022939 INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD C4479517 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022940 RETINITIS PIGMENTOSA 79 C4479526 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022941 46,XX SEX REVERSAL 4 C4479552 disease Congenital Abnormality T019 Congenital Abnormality 3 BXGD022942 NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS C4479569 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022943 NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES C4479631 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022944 RAHMAN SYNDROME C4479637 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022945 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2 C4479640 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022946 COHEN-GIBSON SYNDROME C4479654 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD022947 HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5 C4479658 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022948 APOE5 VARIANT C4479660 phenotype Finding T033 Finding 1 BXGD022949 ADRENAL INSUFFICIENCY, NR5A1-RELATED C4479664 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD022950 FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC C4479673 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022951 FCD IIA C4479708 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD022952 FCD IIB C4479709 disease Disease or Syndrome T047 Disease or Syndrome 15 BXGD022953 Epileptic Syndromes C4505072 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 46 BXGD022954 Food Addiction C4505163 disease F03;F01 Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 9 BXGD022955 Sleep Onset Latency C4505222 phenotype Finding T033 Finding 5 BXGD022956 Gender-Based Violence C4505226 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD022957 Xp21 Contiguous Gene Deletion Syndrome C4505291 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022958 Diverticular Bleeding C4505353 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD022959 Giardia duodenalis Infection C4505386 disease C06;C01 Digestive System Diseases; Infections Disease or Syndrome T047 Disease or Syndrome 2 BXGD022960 Heroin Smoking C4505390 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 10 BXGD022961 XMRV Infection C4505432 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 6 BXGD022962 Generalized Absence Seizures C4505436 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 102 BXGD022963 Moral Injury C4505439 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD022964 HIV Coinfection C4505456 disease C01;C20 Infections; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 129 BXGD022965 Blastic plasmacytoid dendritic cell neoplasm (BPDCN) C4509017 C86.4 disease Neoplastic Process T191 Neoplastic Process 9 BXGD022966 Isolated bone marrow mastocytosis C4509020 D47.02 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD022967 Light chain (AL) amyloidosis C4509023 E85.81 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD022968 Senile systemic amyloidosis (SSA) C4509024 E85.82 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD022969 bipolar type I disorder C4509113 F31 disease Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD022970 Group 3 pulmonary hypertension C4509213 I27.23 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022971 Heart failure with reduced ejection fraction [HFrEF] C4509223 I50.2 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD022972 Heart failure with preserved ejection fraction [HFpEF] C4509226 I50.3 disease Disease or Syndrome T047 Disease or Syndrome 89 BXGD022973 Stage D heart failure C4509245 I50.84 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022974 Rheumatoid arthritis in remission C4509670 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022975 Squamous non-small cell lung cancer C4509816 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 30 BXGD022976 Facial onset sensory and motor neuronopathy syndrome C4509818 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022977 Endocrine-cerebro-osteodysplasia syndrome C4509819 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022978 Familial acute necrotizing encephalopathy C4509836 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022979 Natural killer cell enteropathy C4509932 disease C20;C15 Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD022980 Length-dependent peripheral neuropathy C4510005 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD022981 Habitual snoring C4510110 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom T184 Sign or Symptom 1 BXGD022982 Graves' disease in remission C4510147 disease C11;C20;C19 Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022983 Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency C4510276 phenotype C23;C16;C18;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD022984 McLeod neuroacanthocytosis syndrome C4510408 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022985 Familial primary hypomagnesemia with normocalciuria and normocalcemia C4510731 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD022986 46,XY partial gonadal dysgenesis C4510744 disease Disease or Syndrome T047 Disease or Syndrome 11 BXGD022987 Deep endometriosis C4510788 disease C06;C13 Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 14 BXGD022988 Duodenal ulcer caused by Helicobacter pylori C4510851 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD022989 Acquired purpura fulminans C4510896 phenotype C23;C15 Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022990 Omodysplasia C4510897 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD022991 Monogenic autoinflammatory syndrome C4510988 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 2 BXGD022992 Vasculitis of medium sized vessel C4510989 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD022993 Acute myeloid leukemia with t(8;16)(p11;p13) translocation C4511003 disease Neoplastic Process T191 Neoplastic Process 2 BXGD022994 Autosomal dominant primary hypomagnesemia with hypocalciuria C4511005 phenotype C23;C16;C18;C13;C12 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD022995 Isolated thrombocytopenia C4511035 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD022996 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy C4511138 phenotype C23;C18;C11;C05;C10 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD022997 Bathing suit ichthyosis C4511230 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD022998 Butterfly-shaped pigmentary macular dystrophy C4511237 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD022999 Genetic lipodystrophy C4511302 disease C18;C17 Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD023000 Keratinopathic ichthyosis C4511307 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023001 Hypnotic withdrawal C4511324 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD023002 Sporadic Parkinson disease C4511452 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 179 BXGD023003 Peripheral spondyloarthritis C4511579 disease C01;C05 Infections; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD023004 Severe pediatric obstructive sleep apnea C4511583 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023005 Methamphetamine intoxication C4511595 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD023006 Chronic cerebrospinal venous insufficiency C4511608 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023007 Autosomal dominant tubulointerstitial kidney disease C4511620 disease Disease or Syndrome T047 Disease or Syndrome 13 BXGD023008 Familial malignant melanoma of skin C4511622 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD023009 Prolonged grief disorder C4511668 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD023010 Pancreatic Intraductal Papillary Mucinous Neoplasm C4511687 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 84 BXGD023011 Epileptic encephalopathy with global cerebral demyelination C4512050 phenotype C23;C18;C11;C05;C10;C14 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023012 Endometrial carcinosarcoma C4517098 disease Neoplastic Process T191 Neoplastic Process 8 BXGD023013 Coenzyme A synthase protein associated neurodegeneration C4517377 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD023014 Epithelioid angiomyolipoma C4518194 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 17 BXGD023015 Acinar cell cystadenoma C4518208 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023016 Fibromatosis-like metaplastic carcinoma C4518223 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023017 Clear cell papillary renal cell carcinoma C4518333 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 19 BXGD023018 Spinocerebellar ataxia type 38 C4518337 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD023019 Sporadic adult-onset ataxia of unknown etiology C4518339 phenotype C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Sign or Symptom T184 Sign or Symptom 3 BXGD023020 MiT family translocation renal cell carcinoma C4518356 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 33 BXGD023021 Mucinous tubular and spindle cell carcinoma C4518375 disease Neoplastic Process T191 Neoplastic Process 5 BXGD023022 B-cell lymphoma with features intermediate between diffuse large B-cell lymphoma and Burkitt lymphoma C4518409 disease Neoplastic Process T191 Neoplastic Process 3 BXGD023023 Anaplastic lymphoma kinase positive anaplastic large cell lymphoma C4518436 disease Neoplastic Process T191 Neoplastic Process 8 BXGD023024 Stroke co-occurrent with migraine C4518466 disease C10;C14 Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023025 Partial trisomy of chromosome 17 C4518505 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023026 Non-intestinal type adenocarcinoma C4518548 disease Neoplastic Process T191 Neoplastic Process 4 BXGD023027 Pneumonia caused by Gram positive bacteria C4518562 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD023028 Aggressive papillary tumor C4518570 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023029 Chronic pulmonary aspergillosis C4518624 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023030 Eosinophilic meningitis due to Angiostrongylus cantonensis C4518626 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 3 BXGD023031 Epilepsy of infancy with migrating focal seizures C4518639 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD023032 Serrated hyperplastic polyposis C4520526 disease Neoplastic Process T191 Neoplastic Process 3 BXGD023033 Abnormal macular morphology C4520679 phenotype C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 30 BXGD023034 Stage II Breast Cancer AJCC v6 and v7 C4520714 disease Neoplastic Process T191 Neoplastic Process 11 BXGD023035 Stage I Rectal Cancer AJCC v6 and v7 C4520718 disease Neoplastic Process T191 Neoplastic Process 4 BXGD023036 Stage II Cutaneous Melanoma AJCC v6 and v7 C4520731 disease Neoplastic Process T191 Neoplastic Process 3 BXGD023037 Stage IV Cutaneous Melanoma AJCC v6 and v7 C4520732 disease Neoplastic Process T191 Neoplastic Process 26 BXGD023038 Stage 0 Cutaneous Melanoma AJCC v6 and v7 C4520764 disease Neoplastic Process T191 Neoplastic Process 18 BXGD023039 Stage 0 Breast Cancer AJCC v6 and v7 C4520821 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 41 BXGD023040 Stage 0 Colon Cancer AJCC v6 and v7 C4520822 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 1 BXGD023041 Erythroleukemia (Erythroid/Myeloid) C4520840 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 237 BXGD023042 Pure Erythroid Leukemia C4520841 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 13 BXGD023043 Pterygium of eye C4520843 H11.0 disease C11 Eye Diseases Disease or Syndrome HP:0001574;HP:0000924 Abnormality of the integument; Abnormality of the skeletal system T047 Disease or Syndrome 169 BXGD023044 Stage I Colorectal Cancer AJCC v6 and v7 C4520854 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023045 Stage II Uterine Corpus Cancer AJCC v6 C4520855 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023046 Otospondylomegaepiphyseal dysplasia C4520892 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD023047 Stage IV Breast Cancer AJCC v6 and v7 C4520898 disease Neoplastic Process T191 Neoplastic Process 15 BXGD023048 Stage I Uterine Corpus Cancer AJCC v6 C4520919 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023049 Stage IV Uterine Corpus Cancer AJCC v6 C4520920 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023050 Stage IV Pancreatic Cancer AJCC v6 and v7 C4520975 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023051 Abnormality of the basal ganglia C4520981 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 17 BXGD023052 Congenital atresia of extrahepatic bile duct C4520983 disease C16;C06 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality HP:0025031 Abnormality of the digestive system DOID:7 disease of anatomical entity T019 Congenital Abnormality 172 BXGD023053 Stage I Colon Cancer AJCC v6 and v7 C4521000 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023054 Polyarticular juvenile idiopathic arthritis C4521004 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD023055 Complete Trisomy 21 Syndrome C4521042 disease C23;C16;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 669 BXGD023056 Childhood Overweight C4521075 phenotype C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Finding T033 Finding 4 BXGD023057 Refractory Acute Lymphoblastic Leukemia C4521228 disease Neoplastic Process T191 Neoplastic Process 14 BXGD023058 Glomerulopathy Assessment C4521256 phenotype Diagnostic Procedure T060 Diagnostic Procedure 84 BXGD023059 Hunger Vital Sign C4521396 phenotype Sign or Symptom T184 Sign or Symptom 4 BXGD023060 Pseudomyotonia (finding) C4521481 G71.19 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD023061 SPINOCEREBELLAR ATAXIA 44 C4521563 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD023062 FANCONI ANEMIA, COMPLEMENTATION GROUP W C4521564 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023063 Neck Pain Score 1 C4521577 phenotype Finding T033 Finding 5 BXGD023064 Peripheral precocious puberty C4521591 disease C19 Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD023065 DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION C4521680 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD023066 Telangiectasia of macula lutea C4521693 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD023067 Tubular Atrophy Assessment C4521759 phenotype Diagnostic Procedure T060 Diagnostic Procedure 17 BXGD023068 Stage IV Pancreatic Cancer AJCC v8 C4521879 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023069 Stage III Hepatocellular Carcinoma AJCC v7 C4521906 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023070 Stage I Lung Cancer AJCC v7 C4521966 disease Neoplastic Process T191 Neoplastic Process 13 BXGD023071 Stage III Lung Cancer AJCC v7 C4521968 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023072 Hepatocyte Growth Factor Measurement C4522089 phenotype Laboratory Procedure T059 Laboratory Procedure 3 BXGD023073 Invasive Mucinous Lung Adenocarcinoma C4522160 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD023074 Brachial Amyotrophic Diplegia C4522181 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 28 BXGD023075 Recurrent Anaplastic Astrocytoma C4522224 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD023076 Atypical Spitz Nevus C4522245 disease Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 9 BXGD023077 Acrodysostosis 1 C4522319 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023078 Biventricular dilatation C4523806 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023079 MSI-high C4523846 disease Neoplastic Process T191 Neoplastic Process 83 BXGD023080 Sprue-like enteropathy C4523848 disease C06;C18 Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023081 Multidrug resistant pulmonary tuberculosis C4523850 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023082 Axonal edema C4523900 phenotype Sign or Symptom T184 Sign or Symptom 3 BXGD023083 Fracture infection C4523967 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD023084 Occult hepatitis B C4523989 disease Disease or Syndrome T047 Disease or Syndrome 14 BXGD023085 Thoracic myelopathy C4524038 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023086 Atherogenic dyslipidaemia C4524040 disease Disease or Syndrome T047 Disease or Syndrome 36 BXGD023087 Low anterior resection syndrome C4524073 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD023088 Hypertrophic olivary degeneration C4524077 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023089 Segawa syndrome C4524082 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023090 Bile acid diarrhea C4524087 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD023091 Patella baja C4524088 phenotype Anatomical Abnormality T190 Anatomical Abnormality 2 BXGD023092 Chronic rhinosinusitis with nasal polyps C4524092 disease Neoplastic Process T191 Neoplastic Process 168 BXGD023093 Euglycaemic diabetic ketoacidosis C4524093 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023094 Intensive care unit delirium C4524095 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD023095 Trisomy 4p C4524104 disease C23;C16;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 2 BXGD023096 Double expressor lymphoma C4524186 disease Neoplastic Process T191 Neoplastic Process 4 BXGD023097 In situ follicular lymphoma C4524188 disease Neoplastic Process T191 Neoplastic Process 5 BXGD023098 High-grade B-cell lymphoma, with MYC and BCL2 and/or BCL6 rearrangements C4524190 disease Neoplastic Process T191 Neoplastic Process 3 BXGD023099 Autoimmune anaemia C4524207 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023100 Lumbodynia C4524209 phenotype Sign or Symptom T184 Sign or Symptom 4 BXGD023101 Sellar lesion C4524211 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023102 MSI-low C4524257 disease Neoplastic Process T191 Neoplastic Process 37 BXGD023103 Uncomplicated pyelonephritis C4524264 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD023104 Advanced lung cancer C4524268 disease Neoplastic Process T191 Neoplastic Process 59 BXGD023105 Hamster Melanoma C4524373 disease Neoplastic Process T191 Neoplastic Process 3 BXGD023106 Mucosal Melanoma of the Head and Neck C4524458 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023107 Oral Intraepithelial Neoplasia C4524462 disease C04;C07 Neoplasms; Stomatognathic Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD023108 cutaneous squamous cell carcinoma of the head and neck C4524517 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD023109 Recurrent Classic Hodgkin Lymphoma C4524752 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023110 stage IVA gastric cancer C4524805 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023111 Recurrent Head and Neck Squamous Cell Carcinoma C4524839 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 10 BXGD023112 Metastatic Paraganglioma C4524841 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023113 Refractory Classic Hodgkin Lymphoma C4524856 disease Neoplastic Process T191 Neoplastic Process 15 BXGD023114 Refractory Neuroblastoma C4525059 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD023115 Refractory Lymphoma C4525060 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 22 BXGD023116 Recurrent Lymphoma C4525062 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD023117 Stage I Colon Cancer AJCC v8 C4525118 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023118 Stage II Colon Cancer AJCC v8 C4525119 disease Neoplastic Process T191 Neoplastic Process 48 BXGD023119 Stage IIA Colon Cancer AJCC v8 C4525122 disease Neoplastic Process T191 Neoplastic Process 10 BXGD023120 Stage III Colon Cancer AJCC v8 C4525124 disease Neoplastic Process T191 Neoplastic Process 42 BXGD023121 Stage IIIC Colon Cancer AJCC v8 C4525127 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023122 Stage IV Colon Cancer AJCC v8 C4525128 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023123 Stage I Rectal Cancer AJCC v8 C4525133 disease Neoplastic Process T191 Neoplastic Process 4 BXGD023124 Stage III Rectal Cancer AJCC v8 C4525138 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023125 Stage IV Rectal Cancer AJCC v8 C4525141 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023126 Chicken Hepatoma C4525218 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023127 Feline Fibrosarcoma C4525220 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023128 Hamster Cholangiocarcinoma C4525225 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023129 Rainbow Trout Hepatoma C4525232 disease Neoplastic Process T191 Neoplastic Process 5 BXGD023130 Xiphophorus Melanoma C4525234 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023131 Stage 0 Gallbladder Cancer AJCC v8 C4525297 disease Neoplastic Process T191 Neoplastic Process 367 BXGD023132 Stage IIA Gallbladder Cancer AJCC v8 C4525300 disease Neoplastic Process T191 Neoplastic Process 367 BXGD023133 Stage IIB Gallbladder Cancer AJCC v8 C4525301 disease Neoplastic Process T191 Neoplastic Process 367 BXGD023134 Stage III Gallbladder Cancer AJCC v8 C4525302 disease Neoplastic Process T191 Neoplastic Process 367 BXGD023135 Stage IV Gallbladder Cancer AJCC v8 C4525305 disease Neoplastic Process T191 Neoplastic Process 367 BXGD023136 Eyelid Sebaceous Gland Carcinoma C4525405 disease Neoplastic Process T191 Neoplastic Process 18 BXGD023137 Hamster Insulinoma C4525496 disease Neoplastic Process T191 Neoplastic Process 7 BXGD023138 Quail Fibrosarcoma C4525499 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023139 Hamster Fibrosarcoma C4525536 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023140 Walleye Dermal Sarcoma C4525544 disease Neoplastic Process T191 Neoplastic Process 3 BXGD023141 Chicken Lymphoma C4525546 disease Neoplastic Process T191 Neoplastic Process 5 BXGD023142 Fish Melanoma C4525548 disease Neoplastic Process T191 Neoplastic Process 3 BXGD023143 Stage I Thymoma AJCC v8 C4526607 disease Neoplastic Process T191 Neoplastic Process 4 BXGD023144 Stage II Thymoma AJCC v8 C4526608 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023145 Stage IV Thymoma AJCC v8 C4526612 disease Neoplastic Process T191 Neoplastic Process 3 BXGD023146 Stage I Lung Cancer AJCC v8 C4526713 disease Neoplastic Process T191 Neoplastic Process 13 BXGD023147 Stage IB Lung Cancer AJCC v8 C4526717 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023148 Stage III Lung Cancer AJCC v8 C4526721 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023149 Stage IV Lung Cancer AJCC v8 C4526725 disease Neoplastic Process T191 Neoplastic Process 7 BXGD023150 Refractory Erdheim-Chester Disease C4526729 disease C15 Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD023151 Lung Non-Keratinizing Squamous Cell Carcinoma C4526912 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023152 Intermediate Atypical Prostate Carcinoma C4527149 disease Neoplastic Process T191 Neoplastic Process 4 BXGD023153 Tricuspid Valve Regurgitation Velocity C4527152 phenotype Sign or Symptom T184 Sign or Symptom 9 BXGD023154 Pleomorphic lobular carcinoma in situ of breast C4527240 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023155 Visceral Crisis C4527413 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023156 In Situ Mantle Cell Neoplasia C4527429 disease Neoplastic Process T191 Neoplastic Process 3 BXGD023157 High Risk Myelodysplastic Syndrome C4528176 disease C15 Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 19 BXGD023158 Breast implant-associated anaplastic large cell lymphoma C4528210 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 17 BXGD023159 Corpuscular Hemoglobin Concentration Mean C4528257 phenotype Laboratory or Test Result T034 Laboratory or Test Result 401 BXGD023160 Advanced Head and Neck Squamous Cell Carcinoma C4528408 disease Neoplastic Process T191 Neoplastic Process 17 BXGD023161 Anatomic Stage I Breast Cancer AJCC v8 C4528551 disease Neoplastic Process T191 Neoplastic Process 6 BXGD023162 Anatomic Stage IA Breast Cancer AJCC v8 C4528552 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023163 Anatomic Stage II Breast Cancer AJCC v8 C4528554 disease Neoplastic Process T191 Neoplastic Process 9 BXGD023164 Anatomic Stage III Breast Cancer AJCC v8 C4528557 disease Neoplastic Process T191 Neoplastic Process 12 BXGD023165 Anatomic Stage IIIA Breast Cancer AJCC v8 C4528558 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023166 Anatomic Stage IIIB Breast Cancer AJCC v8 C4528559 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023167 Anatomic Stage IV Breast Cancer AJCC v8 C4528561 disease Neoplastic Process T191 Neoplastic Process 13 BXGD023168 Prognostic Stage I Breast Cancer AJCC v8 C4528571 disease Neoplastic Process T191 Neoplastic Process 6 BXGD023169 Prognostic Stage IA Breast Cancer AJCC v8 C4528572 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023170 Malignant Neoplasm of Lung - Multiple Primary Sites C4528576 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023171 Prognostic Stage II Breast Cancer AJCC v8 C4528580 disease Neoplastic Process T191 Neoplastic Process 9 BXGD023172 Prognostic Stage III Breast Cancer AJCC v8 C4528588 disease Neoplastic Process T191 Neoplastic Process 12 BXGD023173 Prognostic Stage IIIA Breast Cancer AJCC v8 C4528589 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023174 Prognostic Stage IIIB Breast Cancer AJCC v8 C4528590 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023175 Prognostic Stage IV Breast Cancer AJCC v8 C4528592 disease Neoplastic Process T191 Neoplastic Process 13 BXGD023176 Acute myeloid leukaemia refractory C4528668 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 58 BXGD023177 Devil Facial Tumor Disease C4528699 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023178 Fatty Liver Disease C4529962 disease Disease or Syndrome T047 Disease or Syndrome 741 BXGD023179 Opioid Abuse and Addiction C4529964 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD023180 Light induced retinopathy C4531013 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 5 BXGD023181 Abnormal pulmonary valve cusp morphology C4531035 phenotype Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 2 BXGD023182 Abnormally low T cell receptor excision circle level C4531052 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD023183 Sub-RPE deposits C4531064 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 1 BXGD023184 Mucinous gastric carcinoma C4531083 disease Neoplastic Process HP:0002664 Neoplasm T191 Neoplastic Process 15 BXGD023185 Mucinous colorectal carcinoma C4531084 disease Neoplastic Process HP:0002664 Neoplasm T191 Neoplastic Process 7 BXGD023186 Abnormal mitral valve physiology C4531094 phenotype Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 4 BXGD023187 Negative affectivity C4531100 disease Mental or Behavioral Dysfunction HP:0000707 Abnormality of the nervous system T048 Mental or Behavioral Dysfunction 17 BXGD023188 Penile freckling C4531112 phenotype Anatomical Abnormality HP:0000119 Abnormality of the genitourinary system T190 Anatomical Abnormality 1 BXGD023189 Monotonic speech C4531121 phenotype Finding HP:0001608 Abnormality of the voice T033 Finding 9 BXGD023190 Abnormal speech prosody C4531122 phenotype Finding HP:0001608 Abnormality of the voice T033 Finding 15 BXGD023191 Abnormal morphology of the cerebellar cortex C4531132 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 2 BXGD023192 Short telomere length C4531138 phenotype Anatomical Abnormality HP:0025354 Abnormal cellular phenotype T190 Anatomical Abnormality 12 BXGD023193 Abnormal lymphocyte physiology C4531142 phenotype Cell or Molecular Dysfunction HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T049 Cell or Molecular Dysfunction 1 BXGD023194 Impaired antigen-specific response C4531146 phenotype Cell or Molecular Dysfunction HP:0002715 Abnormality of the immune system T049 Cell or Molecular Dysfunction 1 BXGD023195 Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells C4531149 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD023196 Reduced proportion of naive T cells C4531152 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD023197 Abnormal proportion of CD8 T cells C4531155 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 6 BXGD023198 Abnormal proportion of CD4 T cells C4531156 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 5 BXGD023199 Megakaryocyte nucleus hypolobulation C4531162 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD023200 Decreased lymphocyte proliferation in response to mitogen C4531166 phenotype Cell or Molecular Dysfunction HP:0001939;HP:0002715;HP:0025354 Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype T049 Cell or Molecular Dysfunction 13 BXGD023201 Cold paresis C4531172 phenotype C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom HP:0003011 Abnormality of the musculature T184 Sign or Symptom 1 BXGD023202 Sleep onset Insomnia C4531177 phenotype C10;F03 Nervous System Diseases; Mental Disorders Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 4 BXGD023203 Transthyretin cardiac amyloidosis C4531196 disease Disease or Syndrome HP:0001939;HP:0001626 Abnormality of metabolism/homeostasis; Abnormality of the cardiovascular system T047 Disease or Syndrome 3 BXGD023204 Cardiomyocyte mitochondrial proliferation C4531203 phenotype Finding HP:0025354;HP:0001626 Abnormal cellular phenotype; Abnormality of the cardiovascular system T033 Finding 2 BXGD023205 Internal carotid artery calcification C4531211 disease Disease or Syndrome HP:0000924;HP:0001626 Abnormality of the skeletal system; Abnormality of the cardiovascular system T047 Disease or Syndrome 2 BXGD023206 Peripheral arterial calcification C4531217 disease Disease or Syndrome HP:0000924;HP:0001626 Abnormality of the skeletal system; Abnormality of the cardiovascular system T047 Disease or Syndrome 2 BXGD023207 Coronary sinus enlargement C4531220 phenotype Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 4 BXGD023208 Ichthyosis follicularis C4531223 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument T047 Disease or Syndrome 3 BXGD023209 Abnormal perifollicular morphology C4531226 phenotype Anatomical Abnormality HP:0001574 Abnormality of the integument T190 Anatomical Abnormality 1 BXGD023210 Internally nucleated skeletal muscle fibers C4531255 phenotype Anatomical Abnormality HP:0003011 Abnormality of the musculature T190 Anatomical Abnormality 3 BXGD023211 Decreased circulating dehydroepiandrosterone level C4531272 phenotype Finding HP:0000818 Abnormality of the endocrine system T033 Finding 5 BXGD023212 Striatal T2 hyperintensity C4531279 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD023213 Abnormal morphology of right ventricular trabeculae C4531287 phenotype Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 1 BXGD023214 Abnormal morphology of left ventricular trabeculae C4531288 phenotype Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 1 BXGD023215 Increased mean corpuscular hemoglobin concentration C4531297 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 13 BXGD023216 Premature occlusive vascular stenosis C4531299 disease Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 1 BXGD023217 Acute lung injury/Acute respiratory distress syndrome (ARDS) C4534309 disease Disease or Syndrome T047 Disease or Syndrome 12 BXGD023218 Major psychiatric illness C4534351 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 5 BXGD023219 Non-Alzheimer's dementia (e.g., Lewy body dementia, vascular or multi-infarct dementia; mixed dementia; frontotemporal dementia such as Pick's disease; and dementia related to stroke, Parkinson's or Creutzfeldt-Jakob diseases) C4534438 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD023220 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 C4538407 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD023221 COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY C4538570 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD023222 Alpha-aminoadipic aciduria C4538604 phenotype Finding T033 Finding 1 BXGD023223 GALLOWAY-MOWAT SYNDROME 2, X-LINKED C4538784 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD023224 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE C4538788 disease Mental or Behavioral Dysfunction DOID:630;DOID:150 genetic disease; disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD023225 Supraumbilical raphe C4539078 phenotype Finding T033 Finding 1 BXGD023226 PITUITARY ADENOMA 5, MULTIPLE TYPES C4539685 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023227 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 C4539754 disease Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 1 BXGD023228 EXUDATIVE VITREORETINOPATHY 7 C4539767 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD023229 CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME C4539857 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023230 SCHIZOPHRENIA 19 C4539944 disease Mental or Behavioral Dysfunction DOID:150 disease of mental health T048 Mental or Behavioral Dysfunction 4 BXGD023231 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 C4539948 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD023232 IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS C4539957 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023233 CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES C4539985 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023234 SPERMATOGENIC FAILURE 21 C4539991 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD023235 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 C4540004 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023236 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 C4540014 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023237 Combined oxidative phosphorylation deficiency C4540031 phenotype Finding T033 Finding 4 BXGD023238 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 C4540034 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD023239 PILAROWSKI-BJORNSSON SYNDROME C4540131 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023240 PITUITARY ADENOMA 3, MULTIPLE TYPES C4540135 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023241 AL KAISSI SYNDROME C4540156 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023242 SPERMATOGENIC FAILURE 23 C4540185 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD023243 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES C4540188 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023244 NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES C4540192 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023245 EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 C4540199 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD023246 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 C4540209 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD023247 EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 C4540251 disease Congenital Abnormality DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 1 BXGD023248 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX C4540265 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD023249 GALLOWAY-MOWAT SYNDROME 3 C4540266 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD023250 GALLOWAY-MOWAT SYNDROME 4 C4540270 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD023251 FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION C4540277 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023252 IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA C4540293 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023253 MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 C4540321 disease Mental or Behavioral Dysfunction DOID:630;DOID:150 genetic disease; disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD023254 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES C4540327 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023255 JOUBERT SYNDROME 32 C4540342 disease Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 1 BXGD023256 MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION C4540345 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD023257 KLEEFSTRA SYNDROME 2 C4540395 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023258 COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA C4540434 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023259 NEPHROTIC SYNDROME, TYPE 16 C4540453 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD023260 Megakaryocyte dysplasia C4540467 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD023261 MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 C4540470 disease Mental or Behavioral Dysfunction DOID:630;DOID:150 genetic disease; disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD023262 MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 C4540481 disease Mental or Behavioral Dysfunction DOID:630;DOID:150 genetic disease; disease of mental health T048 Mental or Behavioral Dysfunction 1 BXGD023263 MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 C4540484 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 1 BXGD023264 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY C4540493 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023265 NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER C4540498 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023266 GLUCOCORTICOID DEFICIENCY 5 C4540522 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023267 EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT C4540530 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023268 CROMER BLOOD GROUP SYSTEM, Dr(a-) PHENOTYPE C4540531 phenotype Finding T033 Finding 1 BXGD023269 PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC C4540536 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023270 NEPHROTIC SYNDROME, TYPE 14 C4540559 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD023271 Hydropic leiomyoma C4542910 disease Neoplastic Process T191 Neoplastic Process 4 BXGD023272 Carcinoid syndrome diarrhea C4543399 phenotype C23;C06;C04 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Disease or Syndrome T047 Disease or Syndrome 3 BXGD023273 Anxiety in pregnancy C4543692 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 3 BXGD023274 Microsatellite instability-high solid malignant tumor C4543702 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 7 BXGD023275 Protracted bronchitis caused by bacterium C4543758 disease C01;C08 Infections; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 10 BXGD023276 Clinical malaria C4543807 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 37 BXGD023277 Adult-onset immunodeficiency C4543811 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD023278 Gaming disorder C4543822 disease F03 Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD023279 Postmenopausal osteopenia C4543876 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023280 Osteopenia due to disuse C4543877 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD023281 Narcolepsy type 1 C4543926 disease C10;F03 Nervous System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 35 BXGD023282 Primary osteosarcoma C4543929 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 28 BXGD023283 Localized cutaneous leishmaniasis C4543948 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD023284 Neonatal disorder of endocrine system C4544488 disease C16;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023285 PIK3CA related overgrowth syndrome C4544791 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD023286 Microsatellite instability-high colorectal cancer C4544822 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 26 BXGD023287 Fibropolycystic disease of liver C4544985 phenotype C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD023288 Chronic visceral pain C4545042 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD023289 Myeloid and/or lymphoid neoplasm associated with platelet derived growth factor receptor alpha rearrangement C4545381 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023290 Epigenetic disorder C4545791 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 2 BXGD023291 Classical cystic fibrosis C4546076 disease C16;C06;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023292 Atypical cystic fibrosis C4546077 disease C16;C06;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023293 Congenital obstructive hydrocephalus C4546092 disease C10 Nervous System Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD023294 Abuse of synthetic cathinone C4546258 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 2 BXGD023295 Organ surgical site infection C4546318 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD023296 Left renal agenesis C4546414 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD023297 Exacerbation of allergic asthma C4546431 disease Disease or Syndrome T047 Disease or Syndrome 11 BXGD023298 Hypertrichosis cubiti short stature C4546640 phenotype C23;C17 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023299 Unilateral lobar pulmonary agenesis C4547080 disease C16;C08 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality T019 Congenital Abnormality 1 BXGD023300 Colon adenoma C4551463 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 63 BXGD023301 Aplasia/hypoplasia of the extremities C4551464 disease Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 4 BXGD023302 Small airways disease C4551465 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD023303 Hypertrophic obstructive cardiomyopathy C4551472 I42.1 disease C14 Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 233 BXGD023304 Seckel syndrome 1 C4551474 disease C23;C16;C05;C10;C19 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD023305 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 C4551475 disease C16;C13;C05;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 3 BXGD023306 Robinow Syndrome, Autosomal Dominant C4551476 disease C16;C13;C05;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 4 BXGD023307 SOTOS SYNDROME 1 C4551477 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD023308 NEU-LAXOVA SYNDROME 1 C4551478 disease C23;C16;C13;C17;C05;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 3 BXGD023309 Schwartz-Jampel Syndrome, Type 1 C4551479 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 16 BXGD023310 Adams-Oliver syndrome 1 C4551482 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 17 BXGD023311 Leopard Syndrome 1 C4551484 disease C16;C17;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 6 BXGD023312 Clinodactyly C4551485 disease Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 148 BXGD023313 Submucous cleft palate C4551487 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality T019 Congenital Abnormality 13 BXGD023314 Bifid uvula C4551488 disease Congenital Abnormality HP:0000152 Abnormality of head or neck T019 Congenital Abnormality 97 BXGD023315 Ureter duplex C4551489 disease Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 1 BXGD023316 Ovotestis C4551490 Q56.0 disease C16;C13;C12;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 8 BXGD023317 Micropenis C4551492 Q55.62 disease Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 32 BXGD023318 Situs inversus totalis C4551493 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality HP:0001626 Abnormality of the cardiovascular system T019 Congenital Abnormality 104 BXGD023319 Desquamative gingivitis C4551494 disease C01;C07 Infections; Stomatognathic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023320 Hyperuricemic Nephropathy, Familial Juvenile 1 C4551496 disease C23;C16;C18;C13;C05;C12 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD023321 Ehlers-Danlos syndrome kyphoscoliotic type C4551497 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD023322 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 C4551499 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD023323 Amyloid Polyneuropathy, Iowa Type C4551500 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD023324 Oculocutaneous albinism type 1A C4551504 E70.320 disease C16;C18;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 21 BXGD023325 Methylcrotonyl-CoA carboxylase deficiency C4551505 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD023326 Paroxysmal Nonkinesigenic Dyskinesia 1 C4551506 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 42 BXGD023327 Buphthalmos C4551507 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality HP:0000478 Abnormality of the eye DOID:630;DOID:7 genetic disease; disease of anatomical entity T019 Congenital Abnormality 3 BXGD023328 Dominant hereditary optic atrophy C4551508 disease C16;C11;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 16 BXGD023329 Jervell And Lange-Nielsen Syndrome 1 C4551509 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD023330 X-linked sideroblastic anemia C4551511 D64.0 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 16 BXGD023331 Hemophagocytic Lymphohistiocytosis, Familial, 1 C4551514 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD023332 Chilblain lupus erythematosus C4551515 disease C17;C15 Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD023333 Hip pain C4551516 phenotype C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom HP:0025142 Constitutional symptom T184 Sign or Symptom 21 BXGD023334 Flared nostrils abnormality C4551517 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 6 BXGD023335 Abducens Nerve Palsy C4551519 H49.2 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 8 BXGD023336 Intention tremor C4551520 G25.2 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 20 BXGD023337 Kinetic tremor C4551521 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 13 BXGD023338 Focal segmental glomerulosclerosis 1 C4551527 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD023339 Stage IB Cervical Cancer AJCC v6 and v7 C4551534 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023340 refractory multiple myeloma C4551538 disease C04;C20;C15;C14 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 50 BXGD023341 Refractory Hairy Cell Leukemia C4551546 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2 BXGD023342 Grade III Childhood Astrocytoma C4551548 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 90 BXGD023343 Early Infantile Epileptic Encephalopathy 6 C4551549 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD023344 EPILEPSY, HOT WATER, 1 C4551550 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023345 X-linked hereditary motor and sensory neuropathy C4551551 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD023346 Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 C4551552 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 33 BXGD023347 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 C4551557 disease C16;C20 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD023348 Fibromatosis, Gingival, Type 1 C4551558 disease C16;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD023349 Truncal obesity C4551560 phenotype C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Finding HP:0001507 Growth abnormality T033 Finding 38 BXGD023350 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 C4551562 disease C23;C05 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD023351 Microcephaly (physical finding) C4551563 phenotype Finding HP:0000707;HP:0000152;HP:0000924 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system T033 Finding 160 BXGD023352 Narrow nasal bridge C4551564 phenotype Finding HP:0000152 Abnormality of head or neck T033 Finding 47 BXGD023353 Rachitic rosary C4551565 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 7 BXGD023354 Equinovarus deformity of foot C4551566 phenotype C05 Musculoskeletal Diseases Anatomical Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T190 Anatomical Abnormality 6 BXGD023355 Abnormal granulocyte morphology C4551567 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD023356 Joubert syndrome 1 C4551568 disease C16;C13;C11;C12 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome DOID:630;DOID:7;DOID:225 genetic disease; disease of anatomical entity; syndrome T047 Disease or Syndrome 26 BXGD023357 2-3 toe syndactyly C4551570 disease Congenital Abnormality HP:0040064;HP:0000924 Abnormality of limbs; Abnormality of the skeletal system T019 Congenital Abnormality 85 BXGD023358 Cranioectodermal dysplasia C4551571 disease C16;C05;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 11 BXGD023359 MYOFIBROMATOSIS, INFANTILE, 1 C4551572 disease C04 Neoplasms Disease or Syndrome DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T047 Disease or Syndrome 1 BXGD023360 UNCOMBABLE HAIR SYNDROME 1 C4551573 disease C17 Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023361 Cerebral cortical atrophy C4551583 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 271 BXGD023362 Brain atrophy C4551584 disease C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 182 BXGD023363 Familial renal hypouricemia C4551590 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023364 Increased HDL cholesterol concentration C4551591 phenotype C18 Nutritional and Metabolic Diseases Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 3 BXGD023365 SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 C4551592 disease C16;C04;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD023366 Surface epithelial-stromal tumor C4551593 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD023367 Biliary Cirrhosis, Primary, 1 C4551595 disease C23;C06 Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 42 BXGD023368 Abnormal renal morphology C4551596 disease Congenital Abnormality HP:0000119 Abnormality of the genitourinary system T019 Congenital Abnormality 35 BXGD023369 Noonan Syndrome 1 C4551602 disease C16;C17;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 23 BXGD023370 EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 C4551623 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD023371 Idiopathic basal ganglia calcification 1 C4551624 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD023372 Granulocytopenic disorder C4551627 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD023373 Opiate Abuse C4551628 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 12 BXGD023374 Congenital talipes calcaneovalgus C4551629 Q66.4 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0040064 Abnormality of limbs T019 Congenital Abnormality 1 BXGD023375 Ichthyosis Congenita I C4551630 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD023376 Cystic liver disease C4551631 Q44.6 disease C23;C06;C04 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 19 BXGD023377 Recurrent pancreatitis C4551632 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T047 Disease or Syndrome 14 BXGD023378 Pigmentary retinal dystrophy C4551633 H35.52 disease C11 Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD023379 Erythrocytosis familial, 1 C4551637 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 29 BXGD023380 Stage 0is Bladder Urothelial Carcinoma AJCC v6 and v7 C4551642 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 3 BXGD023381 Long QT Syndrome 1 C4551647 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 20 BXGD023382 Congenital Dysplasia Of The Hip C4551649 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality HP:0000924 Abnormality of the skeletal system T019 Congenital Abnormality 147 BXGD023383 Esophageal Stricture C4551650 K22.2 disease C06 Digestive System Diseases Disease or Syndrome HP:0025031 Abnormality of the digestive system T047 Disease or Syndrome 20 BXGD023384 Keratoderma, Palmoplantar C4551675 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T047 Disease or Syndrome 165 BXGD023385 Laryngismus stridulus C4551676 J38.5 phenotype C23;C08;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding HP:0002086 Abnormality of the respiratory system T033 Finding 7 BXGD023386 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 C4551679 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 2 BXGD023387 Generalized osteoporosis C4551680 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 13 BXGD023388 Periodontitis, Aggressive, 1 C4551681 disease C07 Stomatognathic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD023389 Adrenal Gland Pheochromocytoma C4551683 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process HP:0000818;HP:0000707;HP:0002664 Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm T191 Neoplastic Process 416 BXGD023390 Paralysis of diaphragm C4551685 J98.6 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature DOID:7 disease of anatomical entity T033 Finding 2 BXGD023391 Malignant neoplasm of soft tissue C4551686 group C04 Neoplasms Neoplastic Process DOID:14566 disease of cellular proliferation T191 Neoplastic Process 699 BXGD023392 Sarcoma of soft tissue C4551687 group C04 Neoplasms Neoplastic Process HP:0002664 Neoplasm T191 Neoplastic Process 258 BXGD023393 Sleep-Disordered Breathing C4551689 disease C08;C10 Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 65 BXGD023394 Urethral stricture C4551691 N35.9 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome HP:0000119 Abnormality of the genitourinary system T047 Disease or Syndrome 7 BXGD023395 Wolfram Syndrome 1 C4551693 disease C16;C18;C13;C11;C12;C10;C19;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 9 BXGD023396 Retinal vascular proliferation C4551695 phenotype Finding HP:0000478;HP:0001626 Abnormality of the eye; Abnormality of the cardiovascular system T033 Finding 1 BXGD023397 Abnormality of chromosome stability C4551705 phenotype Cell or Molecular Dysfunction HP:0001939;HP:0025354 Abnormality of metabolism/homeostasis; Abnormal cellular phenotype T049 Cell or Molecular Dysfunction 34 BXGD023398 Rod-Cone Dystrophy C4551714 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 194 BXGD023399 Pigmentary retinopathy C4551715 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 11 BXGD023400 Primary Ciliary Dyskinesia C4551720 disease C16;C08;C09 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 160 BXGD023401 PERRAULT SYNDROME 1 C4551721 disease C23;C16;C13;C12;C10;C19;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD023402 Encephalocele C4551722 Q01.9 disease C23;C16;C13;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality HP:0000707;HP:0000152;HP:0000924 Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 23 BXGD023403 Esodeviation C4551734 disease C11;C10 Eye Diseases; Nervous System Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 1 BXGD023404 Waldenstrom's macroglobulinaemia refractory C4551756 disease C04;C20;C15;C14 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD023405 Excessive daytime sleepiness C4551761 phenotype Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 46 BXGD023406 Stage III Cervical Cancer AJCC v6 and v7 C4551765 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023407 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 C4551768 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD023408 Kleefstra syndrome C4551771 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 9 BXGD023409 Knobloch Syndrome, Type I C4551775 disease C23;C16;C11;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD023410 Brown-Vialetto-Van Laere syndrome C4551777 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD023411 Brugada Syndrome 1 C4551804 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 13 BXGD023412 Oguchi Disease 1 C4551824 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD023413 Megaloblastic Anemia 1 C4551825 D51.1 disease C23;C06;C18;C13;C12;C15 Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD023414 Symphalangism-brachydactyly syndrome C4551826 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD023415 Intralobar nephroblastomatosis C4551835 disease Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm T191 Neoplastic Process 7 BXGD023416 Perilobar nephroblastomatosis C4551836 disease Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm T191 Neoplastic Process 3 BXGD023417 Talipes transversoplanus C4551838 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality T019 Congenital Abnormality 30 BXGD023418 Eyelid myoclonias C4551850 disease Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 3 BXGD023419 Cornelia de Lange Syndrome 1 C4551851 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 8 BXGD023420 Diaphyseal dysplasia C4551852 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome HP:0000924 Abnormality of the skeletal system T047 Disease or Syndrome 2 BXGD023421 Diaphyseal sclerosis C4551853 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 6 BXGD023422 HYPOPLASTIC LEFT HEART SYNDROME 1 C4551854 disease C16;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 37 BXGD023423 Asphyxiating Thoracic Dystrophy 1 C4551856 disease C16;C17;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality DOID:630 genetic disease T047;T019 Disease or Syndrome; Congenital Abnormality 11 BXGD023424 Juvenile Myoclonic Epilepsy of Janz C4551857 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD023425 Vesicoureteral Reflux 1 C4551858 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 47 BXGD023426 RUBINSTEIN-TAYBI SYNDROME 1 C4551859 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD023427 Ullrich congenital muscular dystrophy C4551860 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD023428 Telangiectasia, Hereditary Hemorrhagic, Type 1 C4551861 disease C16;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 8 BXGD023429 Ophthalmoplegia, Progressive Supranuclear C4551862 G23.1 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD023430 Supranuclear Palsy, Progressive, 1 C4551863 disease C23;C11;C10 Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD023431 Stage IIB Cervical Cancer AJCC v6 and v7 C4551868 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023432 Toxemia of pregnancy C4551893 disease C13;C14 Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Disease or Syndrome HP:0001197 Abnormality of prenatal development or birth DOID:7 disease of anatomical entity T047 Disease or Syndrome 6 BXGD023433 Familial Cold Autoinflammatory Syndrome 1 C4551895 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 4 BXGD023434 Cholestasis, progressive familial intrahepatic 1 C4551898 disease C06 Digestive System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 38 BXGD023435 Cholestasis, benign recurrent intrahepatic 1 C4551899 disease C06 Digestive System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD023436 Craniosynostosis, Type 1 C4551902 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 18 BXGD023437 Total anomalous pulmonary venous return C4551903 Q26.2 disease C16;C08;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 16 BXGD023438 Pulmonary Venous Return Anomaly C4551905 disease C16;C08;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases Congenital Abnormality HP:0002086;HP:0001626 Abnormality of the respiratory system; Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T019 Congenital Abnormality 14 BXGD023439 Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus C4551906 disease C16;C08;C09;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 43 BXGD023440 Acute Inflammatory Demyelinating Polyneuropathy C4551910 disease C20;C10 Immune System Diseases; Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 19 BXGD023441 Gait Disturbance, CTCAE C4551915 phenotype Finding T033 Finding 299 BXGD023442 Anal Stenosis, CTCAE C4551936 phenotype Finding T033 Finding 27 BXGD023443 Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 C4551951 disease C16;C18;C05;C10;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 8 BXGD023444 Myopathy, Centronuclear, 1 C4551952 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 13 BXGD023445 MACULAR DYSTROPHY, VITELLIFORM, 1 C4551953 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD023446 HYPEREKPLEXIA 1 C4551954 disease C23;C05;C10 Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD023447 Loeys-Dietz Syndrome, Type 1a C4551955 disease C16;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 5 BXGD023448 Epilepsy, Familial Temporal Lobe 1 C4551957 disease C23;C10;F03 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD023449 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 C4551958 disease C16;C18;C05;C10;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD023450 ATRIAL STANDSTILL 1 C4551959 disease C23;C16;C14 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD023451 Familial Isolated Hyperparathyroidism C4551961 disease C19 Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 10 BXGD023452 ACNE INVERSA, FAMILIAL, 1 C4551962 disease C01;C17 Infections; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD023453 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 1 C4551964 disease C23;C18;C11;C05;C10 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD023454 GLUT1 DEFICIENCY SYNDROME 1 C4551966 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023455 B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY C4551967 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023456 Bilateral Periventricular Nodular Heterotopia C4551969 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:7;DOID:0080015 disease of anatomical entity; physical disorder T047 Disease or Syndrome 6 BXGD023457 Sclerotic vertebral endplates C4551970 phenotype Finding HP:0000924 Abnormality of the skeletal system T033 Finding 5 BXGD023458 Mosaic variegated aneuploidy syndrome C4551972 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome T047 Disease or Syndrome 5 BXGD023459 Miyoshi Muscular Dystrophy 1 C4551973 disease C23;C16;C05;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD023460 HYPOTRICHOSIS 1 C4551976 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD023461 Microphthalmos, Autosomal Recessive C4551977 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 8 BXGD023462 Nephronophthisis 1 C4551979 disease C13;C12 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 18 BXGD023463 Familial Multiple Coagulation Factor Deficiency I C4551981 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD023464 Arthrogryposis with renal dysfunction and cholestasis syndrome C4551984 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 12 BXGD023465 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 C4551985 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD023466 AMR Syndrome C4551986 disease C23;C17;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 2 BXGD023467 BLEPHAROCHEILODONTIC SYNDROME 1 C4551988 disease C16;C11;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD023468 Tibial aplasia and ectrodactyly syndrome C4551989 disease C16;C05 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD023469 Amyotrophic Lateral Sclerosis, Familial C4551993 disease C18;C10 Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 130 BXGD023470 Mitochondrial DNA Depletion Syndrome 1 C4551995 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 4 BXGD023471 Auriculocondylar syndrome 1 C4551996 disease C09 Otorhinolaryngologic Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD023472 Porencephaly, Type 1, Autosomal Dominant C4551998 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD023473 Episodic Kinesigenic Dyskinesia 1 C4552000 disease C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 153 BXGD023474 MEIER-GORLIN SYNDROME 1 C4552001 disease C23;C16;C05;C07;C09 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD023475 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 C4552003 disease C16;C17;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 9 BXGD023476 Distal Myopathy 1 C4552004 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD023477 Gonadotropin deficiency C4552011 disease Disease or Syndrome HP:0000818;HP:0000707 Abnormality of the endocrine system; Abnormality of the nervous system T047 Disease or Syndrome 26 BXGD023478 ABDOMINAL OBESITY-METABOLIC SYNDROME 1 C4552048 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome DOID:630;DOID:225 genetic disease; syndrome T047 Disease or Syndrome 1 BXGD023479 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 C4552049 disease C16;C04;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 2 BXGD023480 Mandibular pain C4552061 R68.84 phenotype C23 Pathological Conditions, Signs and Symptoms Sign or Symptom HP:0025142;HP:0000152;HP:0000924 Constitutional symptom; Abnormality of head or neck; Abnormality of the skeletal system T184 Sign or Symptom 2 BXGD023481 Pulmonary Hypertension, Primary, 1 C4552070 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD023482 X-linked infantile spasms C4552072 disease C10 Nervous System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 53 BXGD023483 Premature Ovarian Failure 1 C4552079 disease C13;C19 Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 7 BXGD023484 HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME C4552089 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD023485 Polyarthritis, Juvenile, Rheumatoid Factor Negative C4552091 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 131 BXGD023486 Dowling-Degos disease 1 C4552092 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 4 BXGD023487 Nevus Sebaceus of Jadassohn C4552097 disease C16;C04;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome HP:0001574 Abnormality of the integument DOID:225 syndrome T047 Disease or Syndrome 12 BXGD023488 Lynch Syndrome C4552100 disease C16;C06;C04;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 103 BXGD023489 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 C4552122 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 5 BXGD023490 Typical absence seizures C4552130 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 3 BXGD023491 Reoviral infection C4552167 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023492 Familial acromegaly C4552171 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD023493 Cardiac iron overload C4552187 disease C18;C14 Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD023494 Trichoblastic carcinoma C4552208 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023495 Broad autism phenotype C4552213 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 6 BXGD023496 Autoimmune lung disease C4552215 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD023497 B-cell aplasia C4552224 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD023498 Dyschromatosis C4552243 disease Congenital Abnormality T019 Congenital Abnormality 3 BXGD023499 Hereditary angioedema with normal C1 esterase inhibitor C4552292 disease C17;C20;C14 Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023500 Neurogenic tumour C4552295 disease C08 Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD023501 Gastrointestinal adenocarcinoma C4552318 disease Neoplastic Process T191 Neoplastic Process 9 BXGD023502 Obesity cardiomyopathy C4552322 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD023503 Congenital Zika syndrome C4552332 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 5 BXGD023504 Complicated urinary tract infection C4552431 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD023505 Acute bacterial skin and skin structure infection C4552481 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023506 CSSSI C4552482 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD023507 ABSSSI C4552483 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023508 Unexplained chronic cough C4552485 phenotype Sign or Symptom T184 Sign or Symptom 3 BXGD023509 Refractory chronic cough C4552486 phenotype Sign or Symptom T184 Sign or Symptom 2 BXGD023510 Idiopathic granulomatous mastitis C4552494 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD023511 Multiple sclerosis lesion C4552504 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD023512 Neurocognitive deficit C4552512 disease Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD023513 Temporomandibular joint osteoarthritis C4552513 disease Disease or Syndrome T047 Disease or Syndrome 32 BXGD023514 Hereditary angioedema with normal C1 inhibitor C4552517 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD023515 TAFRO syndrome C4552543 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD023516 Intracranial haemangiopericytoma C4552548 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023517 Subclavicular lymphadenopathy C4552567 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023518 Rhinorrhea, CTCAE C4552662 phenotype Finding T033 Finding 6 BXGD023519 Portal Vein Thrombosis, CTCAE C4552670 phenotype Finding T033 Finding 7 BXGD023520 Stage I Ovarian Cancer AJCC v8 C4552673 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023521 Stage I Prostate Cancer AJCC v8 C4552675 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023522 Epilepsy, Minor C4552765 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD023523 Miscarriage C4552766 disease C13 Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome T047 Disease or Syndrome 426 BXGD023524 Myoclonic Epilepsy, Adolescent C4552768 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD023525 Irritability, CTCAE C4552810 phenotype Finding T033 Finding 140 BXGD023526 Generalized Muscle Weakness, CTCAE C4552811 phenotype Finding T033 Finding 117 BXGD023527 Hypomagnesemia, CTCAE C4552839 phenotype Finding T033 Finding 21 BXGD023528 Agitation, CTCAE 5.0 C4552855 phenotype Finding T033 Finding 87 BXGD023529 Productive Cough, CTCAE C4552938 phenotype Finding T033 Finding 17 BXGD023530 Ear Pain, CTCAE C4552960 phenotype Finding T033 Finding 4 BXGD023531 Chemokine (C-C Motif) Ligand 21 Measurement C4553013 phenotype Laboratory Procedure T059 Laboratory Procedure 2 BXGD023532 Avascular Necrosis, CTCAE C4553018 phenotype Finding T033 Finding 41 BXGD023533 Anal Pain, CTCAE 5 C4553071 phenotype Finding T033 Finding 1 BXGD023534 Myoclonic Epilepsy, Juvenile, 1 C4553087 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD023535 Neurolymphomatosis C4553088 disease C10 Nervous System Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD023536 Interleukin 1 Receptor-Like 1 Measurement C4553157 phenotype Laboratory Procedure T059 Laboratory Procedure 5 BXGD023537 Stage II Ovarian Cancer AJCC v8 C4553237 disease Neoplastic Process T191 Neoplastic Process 4 BXGD023538 Cystic Echinocccosis C4553297 disease C01 Infections Disease or Syndrome T047 Disease or Syndrome 26 BXGD023539 Impulsive Petit Mal Epilepsy C4553298 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD023540 Periorbital Edema, CTCAE C4553313 phenotype Finding T033 Finding 22 BXGD023541 Stage IIB Cervical Cancer AJCC v8 C4553413 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023542 Stage III Cervical Cancer AJCC v8 C4553419 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023543 Infantile Obesity C4553478 phenotype C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD023544 Stage III Ovarian Cancer AJCC v8 C4553569 disease Neoplastic Process T191 Neoplastic Process 5 BXGD023545 Arterial Injury, CTCAE C4553639 phenotype Finding T033 Finding 4 BXGD023546 Stage IV Ovarian Cancer AJCC v8 C4553703 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023547 Absence Seizure Disorder C4553705 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD023548 Spasticity, CTCAE C4553743 phenotype Finding T033 Finding 477 BXGD023549 Stage IV Prostate Cancer AJCC v8 C4553752 disease Neoplastic Process T191 Neoplastic Process 4 BXGD023550 Ventricular Arrhythmia, CTCAE 5.0 C4553764 phenotype Finding T033 Finding 17 BXGD023551 Memory Impairment, CTCAE 5.0 C4553765 phenotype Finding T033 Finding 108 BXGD023552 Superficial Thrombophlebitis, CTCAE C4553919 phenotype Finding T033 Finding 3 BXGD023553 Hyperkeratosis, CTCAE C4553962 phenotype Finding T033 Finding 87 BXGD023554 Urinary Urgency, CTCAE 5 C4553976 phenotype Finding T033 Finding 34 BXGD023555 Uveoretinal Coloboma C4554007 disease C16;C11 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 8 BXGD023556 Isomerism (body) C4554010 disease C16;C15;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality HP:0001507 Growth abnormality T019 Congenital Abnormality 9 BXGD023557 Nystagmus, CTCAE 5.0 C4554036 phenotype Finding T033 Finding 779 BXGD023558 Body Odor, CTCAE C4554061 phenotype Finding T033 Finding 2 BXGD023559 Bone Pain, CTCAE 5.0 C4554063 phenotype Finding T033 Finding 67 BXGD023560 Childhood Brain Glioblastoma C4554065 disease Neoplastic Process T191 Neoplastic Process 4 BXGD023561 Diabetes Mellitus, Sudden-Onset C4554117 disease C18;C20;C19 Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 44 BXGD023562 Hepatic Necrosis, CTCAE 5.0 C4554166 phenotype Finding T033 Finding 4 BXGD023563 Duchenne or Becker muscular dystrophy C4554215 G71.01 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 7 BXGD023564 IgE-mediated food allergy C4554344 disease C20 Immune System Diseases Disease or Syndrome HP:0002715 Abnormality of the immune system T047 Disease or Syndrome 126 BXGD023565 FANCONI ANEMIA, COMPLEMENTATION GROUP S C4554406 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023566 Amyloidosis cutis dyschromia C4554601 disease C16;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 84 BXGD023567 Hypermagnesemia, CTCAE C4554647 phenotype Finding T033 Finding 7 BXGD023568 Generalized Edema, CTCAE C4554651 phenotype Finding T033 Finding 12 BXGD023569 Stage A Chronic Lymphocytic Leukemia C4683622 disease Neoplastic Process T191 Neoplastic Process 4 BXGD023570 Refractory B Acute Lymphoblastic Leukemia C4684834 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023571 Pulmonary Artery Intimal Sarcoma C4684845 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023572 Recurrent Malignant Glioma C4684861 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 13 BXGD023573 Refractory Rhabdomyosarcoma C4684864 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD023574 Cerebral Adrenoleukodystrophy C4684865 disease C16;C18;C10;C19 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 9 BXGD023575 Refractory Osteosarcoma C4684870 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD023576 Metastatic Bile Duct Carcinoma C4684879 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 7 BXGD023577 Advanced Bile Duct Carcinoma C4684880 disease Neoplastic Process T191 Neoplastic Process 19 BXGD023578 Refractory Thyroid Gland Carcinoma C4684942 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 10 BXGD023579 Refractory Glioblastoma C4687446 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 6 BXGD023580 Metastatic Genitourinary System Carcinoma C4687546 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD023581 Steroid Refractory Graft Versus Host Disease C4687714 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD023582 Platinum-Resistant Ovarian Carcinoma C4688007 disease Neoplastic Process T191 Neoplastic Process 41 BXGD023583 Advanced Lung Non-Squamous Non-Small Cell Carcinoma C4688308 disease Neoplastic Process T191 Neoplastic Process 10 BXGD023584 Refractory Breast Carcinoma C4688316 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 13 BXGD023585 Refractory Colorectal Carcinoma C4688318 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 9 BXGD023586 Refractory Melanoma C4688319 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD023587 Childhood Malignant Solid Neoplasm C4688336 disease Neoplastic Process T191 Neoplastic Process 3 BXGD023588 Recurrent Craniopharyngioma C4688354 disease C04;C10 Neoplasms; Nervous System Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD023589 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 C4692546 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 1 BXGD023590 SHWACHMAN-DIAMOND SYNDROME 1 C4692625 disease Disease or Syndrome DOID:225 syndrome T047 Disease or Syndrome 7 BXGD023591 BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO C4692845 phenotype Finding T033 Finding 3 BXGD023592 SEIZURES, BENIGN FAMILIAL INFANTILE, 6 C4692954 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD023593 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE C4693325 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023594 EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 C4693362 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD023595 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 C4693367 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD023596 DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES C4693376 disease Disease or Syndrome DOID:150 disease of mental health T047 Disease or Syndrome 1 BXGD023597 MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 C4693389 disease Mental or Behavioral Dysfunction DOID:630;DOID:150 genetic disease; disease of mental health T048 Mental or Behavioral Dysfunction 2 BXGD023598 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY C4693390 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023599 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES C4693391 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023600 SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES C4693481 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023601 LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS C4693498 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023602 AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 C4693523 phenotype Finding T033 Finding 1 BXGD023603 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 C4693542 phenotype Finding T033 Finding 1 BXGD023604 NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS C4693546 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023605 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 C4693550 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD023606 HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME C4693578 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023607 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 C4693587 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023608 AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 C4693609 phenotype Finding T033 Finding 1 BXGD023609 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10 C4693613 phenotype Finding DOID:7 disease of anatomical entity T033 Finding 1 BXGD023610 SPINOCEREBELLAR ATAXIA 47 C4693672 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023611 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61 C4693688 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD023612 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 C4693694 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023613 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 C4693699 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD023614 LEUKODYSTROPHY, HYPOMYELINATING, 15 C4693733 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023615 METHEMOGLOBINEMIA, BETA TYPE C4693797 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023616 NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES C4693816 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023617 ERYTHROCYTOSIS, FAMILIAL, 6 C4693822 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023618 ERYTHROCYTOSIS, FAMILIAL, 7 C4693823 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023619 DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES C4693860 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023620 CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION C4693905 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023621 LEUKODYSTROPHY, HYPOMYELINATING, 17 C4693912 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023622 DRUG METABOLISM, ALTERED, CYP2C8-RELATED C4693948 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023623 POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE C4693949 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023624 POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE C4693950 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023625 NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE C4693964 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023626 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC C4693974 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD023627 HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE C4694049 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023628 Taq1A POLYMORPHISM C4694057 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD023629 Trauma symptoms C4696948 phenotype Sign or Symptom T184 Sign or Symptom 8 BXGD023630 Atypical scrapie C4698644 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023631 Nor98 C4698645 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023632 Metastatic Malignancy C4698656 disease Neoplastic Process T191 Neoplastic Process 7 BXGD023633 T-cell lymphoblastic leukemia/lymphoma C4698657 disease Neoplastic Process T191 Neoplastic Process 6 BXGD023634 ST-segment elevation myocardial infarction (STEMI) C4699152 disease Disease or Syndrome T047 Disease or Syndrome 51 BXGD023635 Fuchs C4699184 disease Disease or Syndrome T047 Disease or Syndrome 10 BXGD023636 Nonprogressive/congenital C4699189 disease Congenital Abnormality T019 Congenital Abnormality 3 BXGD023637 Cardioembolism (high-risk/medium-risk) C4699508 disease Disease or Syndrome T047 Disease or Syndrome 16 BXGD023638 Stroke of undetermined etiology C4699511 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD023639 Large-artery atherosclerosis (embolus/thrombosis) C4699512 disease Disease or Syndrome T047 Disease or Syndrome 48 BXGD023640 Non-ST-segment elevation myocardial infarction (NSTEMI) C4700045 disease Disease or Syndrome T047 Disease or Syndrome 18 BXGD023641 Chronic wasting disease (CWD) C4700085 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD023642 Thiel-behnke C4700127 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023643 Type IV atherosclerotic lesion C4703375 disease Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 1 BXGD023644 Increased proportion of HLA DR+ T cells C4703376 phenotype Finding HP:0002715;HP:0001871 Abnormality of the immune system; Abnormality of blood and blood-forming tissues T033 Finding 3 BXGD023645 Choroidal vascular hyperpermeability C4703391 phenotype Anatomical Abnormality HP:0000478 Abnormality of the eye T190 Anatomical Abnormality 5 BXGD023646 Impaired nasal mucociliary clearance C4703436 phenotype Finding HP:0002086 Abnormality of the respiratory system T033 Finding 41 BXGD023647 Abnormality of fundus pigmentation C4703439 phenotype Finding HP:0000478 Abnormality of the eye T033 Finding 14 BXGD023648 Aborted sudden cardiac death C4703449 phenotype C14 Cardiovascular Diseases Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 1 BXGD023649 Abnormal aortic valve physiology C4703464 disease Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 4 BXGD023650 Atherosclerotic lesion C4703473 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 253 BXGD023651 Severe Epstein Barr virus infection C4703482 disease Disease or Syndrome HP:0002715 Abnormality of the immune system T047 Disease or Syndrome 1 BXGD023652 Disseminated viral infection C4703485 disease C01 Infections Disease or Syndrome HP:0002715 Abnormality of the immune system T047 Disease or Syndrome 2 BXGD023653 Disseminated cryptosporidium infection C4703487 disease C01 Infections Disease or Syndrome HP:0002715 Abnormality of the immune system T047 Disease or Syndrome 1 BXGD023654 Mild hypermetropia C4703503 disease C11 Eye Diseases Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 1 BXGD023655 Elevated apolipoprotein B level C4703544 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD023656 Elevated apolipoprotein A-II level C4703546 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD023657 Increased waist to hip ratio C4703554 phenotype Finding HP:0001507 Growth abnormality T033 Finding 11 BXGD023658 Decreased waist to hip ratio C4703555 phenotype Finding HP:0001507 Growth abnormality T033 Finding 28 BXGD023659 Aortopulmonary collateral arteries C4703564 phenotype Anatomical Abnormality HP:0001626 Abnormality of the cardiovascular system T190 Anatomical Abnormality 2 BXGD023660 Optic ataxia C4703584 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 1 BXGD023661 Early chronotype C4703587 phenotype Finding HP:0000707 Abnormality of the nervous system T033 Finding 3 BXGD023662 Increased proinsulin:insulin ratio C4703595 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 2 BXGD023663 Decreased level of 1,5 anhydroglucitol in serum C4703616 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 4 BXGD023664 Increased level of 3-hydroxy-3-methylglutaric acid in urine C4703617 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 1 BXGD023665 Decreased level of GABA in serum C4703620 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 6 BXGD023666 Increased level of galactitol in plasma C4703627 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD023667 Increased level of galactitol in urine C4703628 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 1 BXGD023668 Increased level of galactonate in red blood cells C4703629 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD023669 Increased level of galactitol in red blood cells C4703630 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD023670 Increased level of hippuric acid in urine C4703632 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 7 BXGD023671 Increased level of L-fucose in urine C4703633 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 14 BXGD023672 Increased level of L-glutamic acid in blood C4703634 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 1 BXGD023673 Increased level of propylene glycol in blood C4703635 phenotype Finding HP:0001939 Abnormality of metabolism/homeostasis T033 Finding 2 BXGD023674 Increased level of L-pyroglutamic acid in urine C4703642 phenotype Finding HP:0001939;HP:0000119 Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system T033 Finding 2 BXGD023675 Eosinophilic infiltration of the esophagus C4703646 phenotype C06 Digestive System Diseases Finding HP:0025031;HP:0002715 Abnormality of the digestive system; Abnormality of the immune system T033 Finding 5 BXGD023676 Increased troponin I level in blood C4703660 phenotype Finding HP:0001626 Abnormality of the cardiovascular system T033 Finding 1 BXGD023677 Periocular capillary hemangioma C4703714 disease C04 Neoplasms Neoplastic Process HP:0002664;HP:0001626 Neoplasm; Abnormality of the cardiovascular system T191 Neoplastic Process 1 BXGD023678 Opium Use C4704679 disease C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 1 BXGD023679 Urinary Bladder, Underactive C4704753 phenotype C23;C13;C12 Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome T047 Disease or Syndrome 20 BXGD023680 Myelodysplastic Syndrome Acute Myeloid Leukemia C4704767 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Neoplastic Process T191 Neoplastic Process 8 BXGD023681 Polyarthritis, Juvenile, Rheumatoid Factor Positive C4704862 disease C17;C05;C20 Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 131 BXGD023682 Mammary Carcinoma, Human C4704874 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 545 BXGD023683 Genital Vulvovaginal Candidiasis C4704876 disease C13;C01 Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome T047 Disease or Syndrome 1 BXGD023684 Fibrocystic Dysplasia of Bone C4704884 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD023685 Fibrocartilaginous Dysplasia of Bone C4704885 disease C05 Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD023686 Maternal Sepsis C4704910 disease C13;C01 Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome T047 Disease or Syndrome 4 BXGD023687 Infant Overweight C4704955 phenotype C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Finding T033 Finding 4 BXGD023688 Adolescent Overweight C4704956 phenotype C23;C18 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Finding T033 Finding 4 BXGD023689 Sickle cell hepatopathy C4706275 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023690 Acute necrotizing encephalopathy of childhood C4706387 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD023691 Congenital myopathy with myasthenic-like onset C4706390 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023692 X-linked Charcot-Marie-Tooth disease type 6 C4706411 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023693 Autosomal recessive cerebellar ataxia with late-onset spasticity C4706412 disease C23;C16;C18;C10 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023694 Familial progressive hyper and hypopigmentation C4706423 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023695 X-linked Charcot-Marie-Tooth disease type 1 C4706465 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023696 X-linked Charcot-Marie-Tooth disease type 5 C4706469 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023697 Distal monosomy 3p syndrome C4706503 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD023698 Severe combined immunodeficiency due to CTPS1 deficiency C4706524 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023699 Startle epilepsy C4706527 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023700 Familial hyperprolactinemia C4706551 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023701 Familial vesicoureteral reflux C4706552 disease Congenital Abnormality DOID:7 disease of anatomical entity T019 Congenital Abnormality 6 BXGD023702 Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies C4706583 disease C04;C01;C10;C19 Neoplasms; Infections; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD023703 Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome C4706610 disease C16;C04;C18;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023704 Aneurysm of left subclavian artery C4706702 phenotype Anatomical Abnormality T190 Anatomical Abnormality 1 BXGD023705 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency C4706871 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 1 BXGD023706 Tetrasomy 21 C4707057 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD023707 Distal 17p13.3 microdeletion syndrome C4707092 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023708 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation C4707173 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023709 Acquired cystic disease associated renal cell carcinoma C4707179 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD023710 Striate palmoplantar keratoderma C4707237 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 5 BXGD023711 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency C4707238 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023712 Familial thoracic aortic aneurysm and aortic dissection C4707243 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 59 BXGD023713 Non-herpetic acute limbic encephalitis C4707262 disease C04;C01;C10 Neoplasms; Infections; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD023714 Spinocerebellar ataxia with axonal neuropathy type 1 C4707307 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD023715 Ring chromosome 3 syndrome C4707449 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023716 Ring chromosome 5 syndrome C4707450 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023717 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea C4707562 disease C08;C10;C19;F03 Respiratory Tract Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 2 BXGD023718 Bilateral polymicrogyria C4707565 disease Congenital Abnormality T019 Congenital Abnormality 3 BXGD023719 Molluscum contagiosum skin infection C4707581 disease C23;C01;C17 Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023720 Acute encephalopathy with biphasic seizures and late reduced diffusion C4707658 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 8 BXGD023721 Idiopathic recurrent pericarditis C4707790 disease C14 Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD023722 Inflammatory myopathy with abundant macrophages C4707791 disease C05;C10 Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD023723 Isochromosomy Yp C4707793 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD023724 Genetic hyperferritinemia without iron overload C4707880 phenotype Finding T033 Finding 1 BXGD023725 Severe early-onset axonal neuropathy due to mitofusin 2 deficiency C4707897 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023726 Low density lipoprotein receptor adaptor protein 1 mutation C4707954 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023727 Autosomal recessive congenital methemoglobinemia type I C4708104 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD023728 Trisomy 1q syndrome C4708596 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD023729 Coloboma of choroid and retina C4708599 disease Congenital Abnormality T019 Congenital Abnormality 5 BXGD023730 Acroangiodermatitis of skin C4708643 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023731 Metastatic non-small cell carcinoma C4720862 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023732 Metastatic gastroesophageal adenocarcinoma C4721207 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD023733 Metastatic castration-resistant prostate cancer C4721208 disease Neoplastic Process T191 Neoplastic Process 140 BXGD023734 Metastatic human epidermal growth factor 2 positive carcinoma of breast C4721209 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 42 BXGD023735 Osteolysis C4721411 M89.5 phenotype C05 Musculoskeletal Diseases Pathologic Function HP:0000924 Abnormality of the skeletal system T046 Pathologic Function 62 BXGD023736 Malignant Pancreatic Insulinoma C4721412 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD023737 Juvenile angiofibroma C4721413 disease C04;C14 Neoplasms; Cardiovascular Diseases Neoplastic Process T191 Neoplastic Process 44 BXGD023738 Mantle cell lymphoma C4721414 C83.1 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 466 BXGD023739 Breast cancer stage III C4721421 disease Neoplastic Process T191 Neoplastic Process 12 BXGD023740 Stage IV Hypopharyngeal Squamous Cell Carcinoma AJCC v7 C4721433 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023741 Mitral valve dysplasia C4721438 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system DOID:7 disease of anatomical entity T047 Disease or Syndrome 9 BXGD023742 Burkitt Leukemia C4721444 disease C04;C01;C20;C15 Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 45 BXGD023743 Intestinal T-Cell Lymphoma C4721452 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 35 BXGD023744 Peripheral Nervous System Diseases C4721453 G64 group C10 Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system DOID:7 disease of anatomical entity T047 Disease or Syndrome 549 BXGD023745 Peripheral dysostosis C4721502 disease C23;C16;C05;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 2 BXGD023746 Sarcoma, Myeloid C4721505 C92.30 disease C04 Neoplasms Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 31 BXGD023747 Alveolitis, Fibrosing C4721507 disease C08 Respiratory Tract Diseases Disease or Syndrome T047 Disease or Syndrome 91 BXGD023748 Hamman-Rich Disease C4721508 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 20 BXGD023749 Usual Interstitial Pneumonia C4721509 disease C08 Respiratory Tract Diseases Disease or Syndrome HP:0002086 Abnormality of the respiratory system DOID:7 disease of anatomical entity T047 Disease or Syndrome 64 BXGD023750 Congenital hypotrichia C4721530 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality HP:0001574 Abnormality of the integument DOID:7 disease of anatomical entity T019 Congenital Abnormality 19 BXGD023751 HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT C4721531 disease C16;C20;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD023752 Lymphoma, Non-Hodgkin, Familial C4721532 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 462 BXGD023753 PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) C4721541 disease C16;C06;C18;C13;C12;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 11 BXGD023754 Autosomal dominant neovascular inflammatory vitreoretinopathy C4721549 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 2 BXGD023755 Autoimmune hepatitis C4721555 K75.4 disease C06 Digestive System Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 190 BXGD023756 Theca cell tumor of ovary C4721567 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 11 BXGD023757 stage IV hypopharyngeal cancer C4721575 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023758 stage IV esophageal cancer C4721577 disease Neoplastic Process T191 Neoplastic Process 3 BXGD023759 Secondary malignant neoplasm of colon and/or rectum C4721579 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 397 BXGD023760 Carcinoma, Ovarian Epithelial C4721610 disease C04;C13;C19 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process HP:0000119;HP:0002664 Abnormality of the genitourinary system; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 2841 BXGD023761 Stage IV Lung Squamous Cell Carcinoma AJCC v7 C4721661 disease Neoplastic Process T191 Neoplastic Process 4 BXGD023762 Bladder cancer stage IV C4721666 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 43 BXGD023763 Metastatic Renal Cell Carcinoma C4721698 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 144 BXGD023764 Unspecified secondary cataract C4721766 H26.40 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 5 BXGD023765 Citrullinemia Type 1 C4721769 disease C16;C18;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 5 BXGD023766 Nasopharyngeal cancer stage IV C4721771 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023767 Postoperative delirium C4721772 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 42 BXGD023768 Postoperative cognitive dysfunction C4721773 phenotype Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 93 BXGD023769 Ovarian cancer stage IV C4721779 disease Neoplastic Process T191 Neoplastic Process 51 BXGD023770 Stage IV Ovarian Cancer AJCC v6 and v7 C4721780 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023771 Bifid ribs C4721788 phenotype Anatomical Abnormality HP:0000924 Abnormality of the skeletal system T190 Anatomical Abnormality 9 BXGD023772 Carcinoma, Basal Cell C4721806 disease C04 Neoplasms Neoplastic Process HP:0001574;HP:0002664 Abnormality of the integument; Neoplasm DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 557 BXGD023773 refractory chronic myelocytic leukemia C4721807 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023774 Adenylosuccinate lyase deficiency type 1 C4721811 disease C16;C18;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD023775 Adenylosuccinate lyase deficiency type 4 C4721812 disease C16;C18;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD023776 Adenylosuccinate lyase deficiency type 3 C4721813 disease C16;C18;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD023777 Adenylosuccinate lyase deficiency type 2 C4721814 disease C16;C18;F03 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome T047 Disease or Syndrome 1 BXGD023778 Marfan Syndrome, Type I C4721845 disease C16;C17;C05;C14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 11 BXGD023779 Hereditary Diffuse Gastric Adenocarcinoma C4721859 disease C16;C06;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD023780 MYOPATHY, MYOFIBRILLAR, 4 C4721886 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD023781 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A C4721887 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD023782 CATARACT 2, MULTIPLE TYPES C4721890 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 3 BXGD023783 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 C4721893 disease C16;C18;C01;C17;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 7 BXGD023784 HMSN Type V C4721916 disease C16;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 7 BXGD023785 malignant neoplasm of large intestine stage IIa C4721919 disease Neoplastic Process T191 Neoplastic Process 10 BXGD023786 Familial Idiopathic Pulmonary Fibrosis C4721952 disease C08 Respiratory Tract Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 23 BXGD023787 Kynurenine Measurement C4722014 phenotype Laboratory Procedure T059 Laboratory Procedure 2 BXGD023788 Malignant neoplasm of colon and/or rectum C4722085 disease Neoplastic Process T191 Neoplastic Process 3669 BXGD023789 High grade glioma C4722099 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 190 BXGD023790 MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 (finding) C4722144 phenotype Finding T033 Finding 1 BXGD023791 Primary differentiated carcinoma of thyroid gland C4722172 disease Neoplastic Process T191 Neoplastic Process 167 BXGD023792 E-selectin Measurement C4722217 phenotype Laboratory Procedure T059 Laboratory Procedure 2 BXGD023793 Vascular Endothelial Growth Factor Receptor 2 Measurement C4722224 phenotype Laboratory Procedure T059 Laboratory Procedure 1 BXGD023794 Hypoprothrombinemias C4722227 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 1 BXGD023795 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV C4722273 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD023796 Anaplastic Sarcoma of the Kidney C4722276 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023797 NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 C4722277 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD023798 Metastatic Neuroblastoma C4722306 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 31 BXGD023799 PROSTATE CANCER, HEREDITARY, 1 C4722327 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 62 BXGD023800 Hereditary Prostate Carcinoma C4722328 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 45 BXGD023801 Generalized Thyroid Hormone Resistance C4722330 disease C19 Endocrine System Diseases Disease or Syndrome HP:0000818 Abnormality of the endocrine system DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 45 BXGD023802 Extrapulmonary Small Cell Carcinoma C4722419 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 157 BXGD023803 ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION C4722446 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD023804 PLCG2-associated antibody deficiency and immune dysregulation C4722480 disease C16;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 3 BXGD023805 Thyroid Stimulating Hormone Resistance C4722488 phenotype Finding T033 Finding 1 BXGD023806 Triple-Negative Breast Carcinoma C4722518 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 1598 BXGD023807 Blood Vessel Tumors C4722524 group C04 Neoplasms Neoplastic Process HP:0002664;HP:0001626 Neoplasm; Abnormality of the cardiovascular system DOID:7;DOID:14566 disease of anatomical entity; disease of cellular proliferation T191 Neoplastic Process 17 BXGD023808 Brain Ependymoma C4723619 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 8 BXGD023809 Metastatic Breast Carcinoma C4723838 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 61 BXGD023810 stage IV thymoma C4723992 disease Neoplastic Process T191 Neoplastic Process 3 BXGD023811 stage IA breast cancer C4724023 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023812 stage I thymoma C4724262 disease Neoplastic Process T191 Neoplastic Process 4 BXGD023813 stage IB non-small cell lung cancer C4724264 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023814 stage II thymoma C4724267 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023815 Metastatic Soft Tissue Sarcoma C4724394 disease Neoplastic Process T191 Neoplastic Process 3 BXGD023816 Refractory Head and Neck Squamous Cell Carcinoma C4724853 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD023817 Refractory Synovial Sarcoma C4724967 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD023818 Refractory Sarcoma C4724971 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD023819 Recurrent Sarcoma C4724972 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD023820 HyperCKmia C4724975 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023821 Moderate Hepatic Insufficiency C4725020 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 3 BXGD023822 Refractory Leukemia C4725024 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 17 BXGD023823 Recurrent Acute Leukemia C4725025 disease Neoplastic Process T191 Neoplastic Process 6 BXGD023824 Refractory Acute Leukemia C4725027 disease Neoplastic Process T191 Neoplastic Process 3 BXGD023825 Unresectable Intrahepatic Cholangiocarcinoma C4725028 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD023826 Refractory Nasopharyngeal Carcinoma C4725030 disease C04;C07;C09 Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD023827 Advanced Urothelial Carcinoma C4725076 disease Neoplastic Process T191 Neoplastic Process 18 BXGD023828 metastatic intraocular melanoma C4725091 disease C04;C11 Neoplasms; Eye Diseases Neoplastic Process T191 Neoplastic Process 53 BXGD023829 Advanced Uveal Melanoma C4725092 disease Neoplastic Process T191 Neoplastic Process 13 BXGD023830 Unresectable Melanoma C4725093 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 7 BXGD023831 Castration-Naive Prostate Carcinoma C4725110 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023832 Advanced Squamous Cell Carcinoma of the Oropharynx C4725662 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023833 High-Risk Neuroblastoma C4725671 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 99 BXGD023834 Refractory Urothelial Carcinoma C4725681 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023835 Platinum-Resistant Urothelial Carcinoma C4725682 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023836 Extracavitary Primary Effusion Lymphoma C4725707 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD023837 Metastatic Bladder Urothelial Carcinoma C4725793 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023838 Unresectable Urothelial Carcinoma C4725799 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023839 Recurrent Dedifferentiated Liposarcoma C4725858 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 3 BXGD023840 Metastatic Malignant Neoplasm in the Viscera C4725861 disease Neoplastic Process T191 Neoplastic Process 30 BXGD023841 Resectable Dedifferentiated Liposarcoma C4725868 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD023842 Mutation-Negative Lynch Syndrome C4725945 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023843 Metastatic Gastrointestinal Stromal Tumor C4725951 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD023844 Extracranial Solid Neoplasm C4726566 disease Neoplastic Process T191 Neoplastic Process 8 BXGD023845 Transformed Non-Hodgkin Lymphoma C4726581 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD023846 Resectable Pancreatic Ductal Adenocarcinoma C4726609 disease Neoplastic Process T191 Neoplastic Process 12 BXGD023847 Chronic Hemolysis C4727002 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD023848 Unresectable Soft Tissue Sarcoma C4727003 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023849 Metastatic Pancreatic Neuroendocrine Carcinoma C4727009 disease C06;C04;C19 Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD023850 Advanced Renal Cell Carcinoma C4727069 disease Neoplastic Process T191 Neoplastic Process 27 BXGD023851 Advanced Carcinoma C4727070 disease Neoplastic Process T191 Neoplastic Process 15 BXGD023852 Advanced Lymphoma C4727071 disease C04;C20;C15 Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD023853 locally advanced squamous cell carcinoma of the skin C4727077 disease Neoplastic Process T191 Neoplastic Process 4 BXGD023854 Advanced Synovial Sarcoma C4727078 disease Neoplastic Process T191 Neoplastic Process 3 BXGD023855 Advanced Sarcoma C4727079 disease Neoplastic Process T191 Neoplastic Process 4 BXGD023856 Metastatic Lung Carcinoma C4727087 disease Neoplastic Process T191 Neoplastic Process 10 BXGD023857 Advanced Lung Carcinoma C4727088 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023858 Recurrent Hemophagocytic Lymphohistiocytosis C4727151 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD023859 Metastatic Gastric Carcinoma C4727169 disease Neoplastic Process T191 Neoplastic Process 12 BXGD023860 Castration-Sensitive Prostate Carcinoma C4727179 disease Neoplastic Process T191 Neoplastic Process 9 BXGD023861 Recurrent Cushing Disease C4727182 disease C10;C19 Nervous System Diseases; Endocrine System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD023862 Recurrent Salivary Duct Carcinoma C4727392 disease Neoplastic Process T191 Neoplastic Process 5 BXGD023863 Recurrent Ovarian Serous Adenocarcinoma C4727396 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023864 Metastatic Fibrolamellar Carcinoma C4727458 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD023865 Locally Advanced Squamous Cell Carcinoma C4727578 disease Neoplastic Process T191 Neoplastic Process 10 BXGD023866 MGMT-Methylated Glioblastoma C4727587 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD023867 Crooke Cell Adenoma C4727593 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD023868 Advanced Oral Cavity Squamous Cell Carcinoma C4727683 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023869 Metastatic Oral Cavity Squamous Cell Carcinoma C4727684 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023870 Advanced Hypopharyngeal Squamous Cell Carcinoma C4727686 disease Neoplastic Process T191 Neoplastic Process 3 BXGD023871 Advanced Laryngeal Squamous Cell Carcinoma C4727687 disease Neoplastic Process T191 Neoplastic Process 8 BXGD023872 Refractory Lung Non-Small Cell Carcinoma C4727773 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 4 BXGD023873 Telomere Syndrome C4727832 phenotype C23 Pathological Conditions, Signs and Symptoms Disease or Syndrome T047 Disease or Syndrome 5 BXGD023874 Advanced Melanoma C4727838 disease Neoplastic Process T191 Neoplastic Process 73 BXGD023875 Epilepsy with myoclonic-atonic seizures C4727877 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD023876 Gatad2b associated neurodevelopmental disorder C4727892 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 3 BXGD023877 H3N2 influenza C4727916 disease Disease or Syndrome T047 Disease or Syndrome 16 BXGD023878 Myocardial infarction with nonobstructive coronary arteries C4727946 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023879 Eosinophilic otitis media C4727981 disease Disease or Syndrome T047 Disease or Syndrome 7 BXGD023880 Ewing-like sarcoma C4727985 disease Neoplastic Process T191 Neoplastic Process 10 BXGD023881 Muscle tension dysphonia C4728018 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023882 Acute on chronic hepatitis B C4728019 disease Disease or Syndrome T047 Disease or Syndrome 21 BXGD023883 CTLA4 deficiency C4728035 disease Disease or Syndrome T047 Disease or Syndrome 8 BXGD023884 Diabetic wound C4728046 disease Disease or Syndrome T047 Disease or Syndrome 72 BXGD023885 Left anterior descending coronary artery occlusion C4728047 disease Disease or Syndrome T047 Disease or Syndrome 5 BXGD023886 Severe hypoglycaemia C4728082 disease Disease or Syndrome T047 Disease or Syndrome 36 BXGD023887 Infantile fibromatosis C4728123 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023888 Mid-dermal elastolysis C4728147 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD023889 Steroid diabetes C4728187 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023890 PIK3CA related overgrowth spectrum C4728213 disease Disease or Syndrome T047 Disease or Syndrome 11 BXGD023891 Non-proliferative retinopathy C4728219 disease Disease or Syndrome T047 Disease or Syndrome 6 BXGD023892 Extramedullary myeloma C4728223 disease Neoplastic Process T191 Neoplastic Process 6 BXGD023893 Capnocytophaga canimorsus sepsis C4728230 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023894 Chronic gastroduodenitis C4728231 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023895 Blood spots C4732730 disease Disease or Syndrome HP:0001574;HP:0001871;HP:0001626 Abnormality of the integument; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system T047 Disease or Syndrome 117 BXGD023896 Acral ulceration C4732740 phenotype Finding HP:0001574;HP:0040064 Abnormality of the integument; Abnormality of limbs T033 Finding 8 BXGD023897 Decreased hemoglobin concentration C4732750 phenotype Finding HP:0001871 Abnormality of blood and blood-forming tissues T033 Finding 1 BXGD023898 Tachylalia C4732764 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome HP:0000707 Abnormality of the nervous system T047 Disease or Syndrome 1 BXGD023899 Spastic paraparetic gait C4732774 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707;HP:0003011 Abnormality of the nervous system; Abnormality of the musculature T033 Finding 1 BXGD023900 Leg dystonia C4732775 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom HP:0000707 Abnormality of the nervous system T184 Sign or Symptom 1 BXGD023901 Abnormal putamen morphology C4732790 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 1 BXGD023902 Polyminimyoclonus C4732793 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding HP:0000707 Abnormality of the nervous system T033 Finding 2 BXGD023903 Apical hypertrophic cardiomyopathy C4732796 disease C14 Cardiovascular Diseases Disease or Syndrome HP:0001626 Abnormality of the cardiovascular system T047 Disease or Syndrome 10 BXGD023904 Infantile constant exotropia C4732800 disease Disease or Syndrome HP:0000478 Abnormality of the eye T047 Disease or Syndrome 1 BXGD023905 Leptomeningeal enhancement C4732837 phenotype Anatomical Abnormality HP:0000707 Abnormality of the nervous system T190 Anatomical Abnormality 6 BXGD023906 Hypoplasia of mandible relative to maxilla C4732857 disease C16;C05;C07 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality HP:0000152;HP:0000924 Abnormality of head or neck; Abnormality of the skeletal system T019 Congenital Abnormality 6 BXGD023907 estrogen receptor-negative breast cancer C4733092 disease Neoplastic Process T191 Neoplastic Process 356 BXGD023908 progesterone receptor-negative breast cancer C4733093 disease Neoplastic Process T191 Neoplastic Process 24 BXGD023909 progesterone receptor-positive breast cancer C4733094 disease Neoplastic Process T191 Neoplastic Process 28 BXGD023910 HER2-negative breast cancer C4733095 disease Neoplastic Process T191 Neoplastic Process 160 BXGD023911 familial chordoma C4733128 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Neoplastic Process T191 Neoplastic Process 2 BXGD023912 ulcerative colitis-associated low-grade dysplasia C4733160 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023913 stage IIIB melanoma C4733213 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023914 stage IIIC melanoma C4733214 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023915 ovarian papillary serous carcinoma C4733227 disease Neoplastic Process T191 Neoplastic Process 9 BXGD023916 familial acute myeloid leukemia C4733329 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome T047 Disease or Syndrome 4 BXGD023917 familial chronic lymphocytic leukemia C4733330 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD023918 mosaic variegated aneuploidy C4733331 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome T047 Disease or Syndrome 7 BXGD023919 familial multiple myeloma C4733332 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD023920 familial non-medullary thyroid cancer C4733333 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process T191 Neoplastic Process 17 BXGD023921 hereditary gastrointestinal stromal tumor C4733337 disease C16;C04 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process T191 Neoplastic Process 2 BXGD023922 distal bile duct cancer C4733473 disease Neoplastic Process T191 Neoplastic Process 3 BXGD023923 stage IVC anaplastic thyroid cancer C4733534 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023924 recurrent medullary thyroid cancer C4733537 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD023925 recurrent papillary thyroid cancer C4733538 disease C04;C19 Neoplasms; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 6 BXGD023926 newly diagnosed non-small cell lung cancer C4733575 disease Neoplastic Process T191 Neoplastic Process 4 BXGD023927 progressive non-small cell lung cancer C4733576 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023928 adult chronic myelogenous leukemia C4733577 disease C04;C15 Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD023929 Opioid Overdose C4735570 phenotype C25;F03 Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction T048 Mental or Behavioral Dysfunction 7 BXGD023930 Apnea+hypopnea C4739246 disease Disease or Syndrome T047 Disease or Syndrome 17 BXGD023931 Non-Functioning Corticotroph Adenoma C4743571 disease C04;C10;C19 Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD023932 Unresectable Malignant Mesothelioma C4743578 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD023933 Unresectable Renal Cell Carcinoma C4743636 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD023934 Resectable Renal Cell Carcinoma C4743637 disease C04;C13;C12 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 3 BXGD023935 Leukocyte Adhesion Deficiency Type 3 C4743661 disease Disease or Syndrome T047 Disease or Syndrome 11 BXGD023936 Pituitary Gland Blastoma C4743978 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023937 Advanced Cutaneous Melanoma of the Extremity C4743983 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023938 Sarcoma of the Extremity C4744307 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD023939 Chest Wall Sarcoma C4744428 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD023940 Recurrent Desmoid-Type Fibromatosis C4744430 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD023941 Metastatic Lung Adenocarcinoma C4744444 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 34 BXGD023942 Cerebral Hemangioblastoma C4744469 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023943 Recurrent Chordoma C4744483 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 1 BXGD023944 Temporal Lobe Pleomorphic Xanthoastrocytoma C4744527 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023945 Metastatic Esophageal Carcinoma C4744548 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023946 Metastatic Lung Non-Small Cell Carcinoma C4744562 disease C04;C08 Neoplasms; Respiratory Tract Diseases Neoplastic Process T191 Neoplastic Process 2 BXGD023947 Metastatic Colorectal Carcinoma C4744564 disease C06;C04 Digestive System Diseases; Neoplasms Neoplastic Process T191 Neoplastic Process 42 BXGD023948 Metastatic Colon Carcinoma C4744565 disease Neoplastic Process T191 Neoplastic Process 12 BXGD023949 Locally Advanced Pancreatic Adenocarcinoma C4744700 disease Neoplastic Process T191 Neoplastic Process 3 BXGD023950 Advanced Prostate Carcinoma C4744712 disease Neoplastic Process T191 Neoplastic Process 9 BXGD023951 Advanced Prostate Adenocarcinoma C4744714 disease Neoplastic Process T191 Neoplastic Process 2 BXGD023952 High Risk Acute Myeloid Leukemia C4744720 disease Neoplastic Process T191 Neoplastic Process 6 BXGD023953 Advanced Cervical Carcinoma C4744722 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023954 Locally Advanced Cervical Carcinoma C4744723 disease Neoplastic Process T191 Neoplastic Process 3 BXGD023955 Refractory Kaposi Sarcoma C4744849 disease C04;C01 Neoplasms; Infections Neoplastic Process T191 Neoplastic Process 1 BXGD023956 Biliary Tract Carcinoma C4745063 disease Neoplastic Process T191 Neoplastic Process 25 BXGD023957 Recurrent Biliary Tract Carcinoma C4745064 disease Neoplastic Process T191 Neoplastic Process 1 BXGD023958 Resectable Intrahepatic Cholangiocarcinoma C4745160 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 5 BXGD023959 Hormone Receptor Positive Breast Carcinoma C4745240 disease C04;C17 Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process T191 Neoplastic Process 1 BXGD023960 ALPORT SYNDROME 3, AUTOSOMAL DOMINANT C4746547 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 3 BXGD023961 ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO C4746575 phenotype Finding T033 Finding 1 BXGD023962 ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE C4746745 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 4 BXGD023963 ORTHOSTATIC HYPOTENSION 1 C4746777 disease Disease or Syndrome DOID:0014667;DOID:630;DOID:7 disease of metabolism; genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD023964 HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED C4746970 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023965 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 C4746984 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023966 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 C4746985 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023967 ALPORT SYNDROME 1, X-LINKED C4746986 disease Disease or Syndrome DOID:630 genetic disease T047 Disease or Syndrome 2 BXGD023968 MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 C4746992 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023969 Hypercholanemia C4747366 phenotype Finding T033 Finding 1 BXGD023970 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 C4747394 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD023971 PARKINSONISM-DYSTONIA, INFANTILE, 1 C4747621 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023972 IMMUNODEFICIENCY 15B C4747743 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023973 LYMPHATIC MALFORMATION 4 C4747769 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD023974 COFFIN-SIRIS SYNDROME 7 C4747954 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023975 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD C4747974 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023976 PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA C4747984 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023977 PARKINSONISM-DYSTONIA, INFANTILE, 2 C4747991 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023978 MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 C4748003 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023979 DRUG METABOLISM, ALTERED, CES1-RELATED C4748035 phenotype Finding T033 Finding 1 BXGD023980 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA C4748041 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023981 PONTOCEREBELLAR HYPOPLASIA, TYPE 1D C4748058 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023982 NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH C4748081 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023983 SPERMATOGENIC FAILURE 28 C4748117 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023984 SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS C4748120 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023985 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES C4748135 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD023986 SPINOCEREBELLAR ATAXIA 48 C4748158 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023987 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 C4748167 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023988 PREMATURE OVARIAN FAILURE 15 C4748170 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023989 MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 C4748176 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023990 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 C4748184 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD023991 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64 C4748192 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023992 MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 C4748195 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023993 IMMUNODEFICIENCY 57 C4748212 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023994 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 C4748219 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023995 LIDDLE SYNDROME 2 C4748251 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023996 POLYDACTYLY, POSTAXIAL, TYPE A8 C4748277 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD023997 LIDDLE SYNDROME 3 C4748292 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023998 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 C4748295 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD023999 DEAFNESS, AUTOSOMAL DOMINANT 74 C4748334 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024000 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES C4748381 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024001 SQUALENE SYNTHASE DEFICIENCY C4748427 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024002 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY C4748428 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024003 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE C4748455 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024004 BONE MARROW FAILURE SYNDROME 5 C4748488 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024005 NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES C4748527 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024006 PERIVENTRICULAR NODULAR HETEROTOPIA 8 C4748602 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024007 NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 C4748608 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD024008 OVARIAN DYSGENESIS 8 C4748626 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 1 BXGD024009 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 C4748670 disease Disease or Syndrome T047 Disease or Syndrome 4 BXGD024010 IMMUNODEFICIENCY 15A C4748694 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024011 INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY C4748708 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024012 BAKER-GORDON SYNDROME C4748715 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024013 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 C4748737 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024014 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 C4748752 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024015 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 C4748753 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024016 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 C4748754 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024017 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 C4748759 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024018 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 C4748760 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD024019 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 C4748766 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024020 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 C4748767 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024021 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 C4748768 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024022 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 C4748769 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024023 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 C4748770 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024024 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 C4748777 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024025 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 C4748778 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024026 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 C4748790 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD024027 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 C4748796 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024028 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 C4748799 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024029 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 C4748803 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024030 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 C4748806 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024031 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 C4748809 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024032 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 C4748827 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024033 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 C4748839 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD024034 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 C4748840 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD024035 MIRROR MOVEMENTS 4 C4748869 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024036 ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT C4748872 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024037 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 C4748876 phenotype Finding T033 Finding 1 BXGD024038 GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR C4748924 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024039 MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS C4748927 disease Disease or Syndrome DOID:630;DOID:150 genetic disease; disease of mental health T047 Disease or Syndrome 2 BXGD024040 HYPOTRICHOSIS 14 C4748930 disease Disease or Syndrome DOID:7 disease of anatomical entity T047 Disease or Syndrome 1 BXGD024041 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G C4748940 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024042 VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI C4748978 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024043 MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM C4748984 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024044 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 C4748988 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024045 MUCOCUTANEOUS ULCERATION, CHRONIC C4748997 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024046 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 C4749019 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024047 MASTOCYTOSIS, SYSTEMIC, SOMATIC C4749053 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024048 MACRODACTYLY, SOMATIC C4749056 disease Congenital Abnormality T019 Congenital Abnormality 1 BXGD024049 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC C4749059 disease Disease or Syndrome T047 Disease or Syndrome 3 BXGD024050 CPT1A ARCTIC VARIANT C4749136 phenotype Finding T033 Finding 1 BXGD024051 MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC C4749139 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024052 Chuvash erythrocytosis C4749274 disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 17 BXGD024053 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation C4749281 phenotype C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD024054 Familial bicuspid aortic valve C4749284 disease C14 Cardiovascular Diseases Congenital Abnormality T019 Congenital Abnormality 3 BXGD024055 Monosomy 13q14 syndrome C4749304 disease C23;C16 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome T047 Disease or Syndrome 7 BXGD024056 Refractory celiac disease C4749333 disease C06;C18 Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 13 BXGD024057 Mesial temporal lobe epilepsy with hippocampal sclerosis C4749367 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 14 BXGD024058 Autosomal recessive spastic paraplegia type 70 C4749431 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024059 2p21 microdeletion syndrome without cystinuria C4749458 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD024060 New-onset refractory status epilepticus C4749462 phenotype C23;C10 Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 4 BXGD024061 Benign Samaritan congenital myopathy C4749502 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024062 Adult-onset distal myopathy due to valosin containing protein mutation C4749506 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD024063 5p13 microduplication syndrome C4749507 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 1 BXGD024064 Hereditary site-specific ovarian cancer syndrome C4749652 disease Disease or Syndrome T047 Disease or Syndrome 2 BXGD024065 Distal hereditary motor neuropathy type 7 C4749653 disease C23;C08;C10;C09 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 2 BXGD024066 Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome C4749856 disease C11 Eye Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD024067 Methylmalonic aciduria due to transcobalamin receptor defect C4749905 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD024068 15q overgrowth syndrome C4749920 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 3 BXGD024069 Spinal muscular atrophy with lower extremity predominance C4750288 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 6 BXGD024070 Left cervical sympathetic dystrophy C4750445 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD024071 Cyclin-dependent kinase-like 5 deficiency C4750718 G40.42 disease C23;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 5 BXGD024072 7q31 microdeletion syndrome C4750783 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024073 Autosomal systemic lupus erythematosus C4750787 disease C17;C20 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD024074 Contiguous ABCD1 DXS1357E deletion syndrome C4750847 disease C16;C18 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD024075 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression C4750853 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD024076 East Texas bleeding disorder C4750854 disease C15 Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD024077 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency C4750855 disease C23;C18;C11;C05;C10;C14 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 2 BXGD024078 LMNA-related cardiocutaneous progeria syndrome C4750858 disease C23;C16;C04 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome T047 Disease or Syndrome 1 BXGD024079 Ocular albinism with congenital sensorineural deafness C4750999 disease C16;C18;C11;C17 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD024080 Onychomatricoma C4751078 disease C04 Neoplasms Neoplastic Process T191 Neoplastic Process 4 BXGD024081 Neonatal inflammatory skin and bowel disease C4751120 disease C06 Digestive System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD024082 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency C4751204 disease C18 Nutritional and Metabolic Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD024083 Rare isolated myopia C4751232 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024084 Periodic paralysis with transient compartment-like syndrome C4751572 disease C10 Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD024085 Periodic paralysis with later-onset distal motor neuropathy C4751573 disease C18;C05;C10 Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD024086 Congenital neutropenia, myelofibrosis, nephromegaly syndrome C4755251 disease C16;C15 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD024087 Hypomyelination with brain stem and spinal cord involvement and leg spasticity C4755254 disease Disease or Syndrome T047 Disease or Syndrome 1 BXGD024088 Severe intellectual disability and progressive spastic paraplegia C4755264 disease Disease or Syndrome DOID:630;DOID:7 genetic disease; disease of anatomical entity T047 Disease or Syndrome 5 BXGD024089 Syndromic multisystem autoimmune disease due to ITCH deficiency C4755273 disease C20 Immune System Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD024090 Atypical hypotonia cystinuria syndrome C4755274 disease C23;C16;C13;C12;C10;F03;F01 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome T047 Disease or Syndrome 4 BXGD024091 Susceptibility to viral and mycobacterial infection C4755296 disease Disease or Syndrome T047 Disease or Syndrome 11 BXGD024092 MT-ATP6-related mitochondrial spastic paraplegia C4755299 disease C23;C18;C11;C05;C10;C14 Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD024093 Idiopathic eosinophilic myositis C4755301 disease C16;C05;C10 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome T047 Disease or Syndrome 2 BXGD024094 Familial cervical artery dissection C4755308 disease Disease or Syndrome T047 Disease or Syndrome 9 BXGD024095 Autosomal recessive cutis laxa type 2B C4755314 disease C18;C05 Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome T047 Disease or Syndrome 1 BXGD024096 Isolated ATP synthase deficiency C4757950 disease Disease or Syndrome DOID:0014667;DOID:630 disease of metabolism; genetic disease T047 Disease or Syndrome 8 BXGD024097 Desmoplastic infantile astrocytoma and ganglioglioma C4757951 disease Neoplastic Process T191 Neoplastic Process 1 BXGD024098 Non-metastatic prostate cancer C4759295 disease C04;C12 Neoplasms; Male Urogenital Diseases Neoplastic Process T191 Neoplastic Process 18