| C0002170 |
BXGD000105 |
Alopecia |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0002986 |
BXGD000165 |
Fabry Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0003864 |
BXGD000231 |
Arthritis |
Musculoskeletal Diseases |
| C0004031 |
BXGD000247 |
Aspergillosis, Allergic Bronchopulmonary |
Infections; Respiratory Tract Diseases; Immune System Diseases |
| C0007570 |
BXGD000467 |
Celiac Disease |
Digestive System Diseases; Nutritional and Metabolic Diseases |
| C0008325 |
BXGD000529 |
Cholecystitis |
Digestive System Diseases |
| C0009324 |
BXGD000597 |
Ulcerative Colitis |
Digestive System Diseases |
| C0011334 |
BXGD000716 |
Dental caries |
Stomatognathic Diseases |
| C0011608 |
BXGD000736 |
Dermatitis Herpetiformis |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0011847 |
BXGD000749 |
Diabetes |
Endocrine System Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0011854 |
BXGD000753 |
Diabetes Mellitus, Insulin-Dependent |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases |
| C0011991 |
BXGD000766 |
Diarrhea |
Pathological Conditions, Signs and Symptoms |
| C0013080 |
BXGD000797 |
Down Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013384 |
BXGD000826 |
Dyskinetic syndrome |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013395 |
BXGD000831 |
Dyspepsia |
Pathological Conditions, Signs and Symptoms |
| C0014038 |
BXGD000878 |
Encephalitis |
Nervous System Diseases |
| C0014848 |
BXGD000955 |
Esophageal Achalasia |
Digestive System Diseases |
| C0014852 |
BXGD000958 |
Esophageal Diseases |
Digestive System Diseases |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0016202 |
BXGD001050 |
Flatfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0016663 |
BXGD001071 |
Pathological fracture |
Wounds and Injuries |
| C0019187 |
BXGD001296 |
Hepatitis, Alcoholic |
Digestive System Diseases; Chemically-Induced Disorders |
| C0019196 |
BXGD001301 |
Hepatitis C |
Digestive System Diseases; Infections |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0019270 |
BXGD001311 |
Hernia |
Pathological Conditions, Signs and Symptoms |
| C0019294 |
BXGD001314 |
Hernia, Inguinal |
Pathological Conditions, Signs and Symptoms |
| C0019825 |
BXGD001349 |
Hoarseness |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0021390 |
BXGD001503 |
Inflammatory Bowel Diseases |
Digestive System Diseases |
| C0021400 |
BXGD001504 |
Influenza |
Infections; Respiratory Tract Diseases |
| C0022104 |
BXGD001529 |
Irritable Bowel Syndrome |
Digestive System Diseases |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0023890 |
BXGD001713 |
Liver Cirrhosis |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0024143 |
BXGD001741 |
Lupus Nephritis |
Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases |
| C0024421 |
BXGD001770 |
Macroglossia |
Stomatognathic Diseases |
| C0024433 |
BXGD001771 |
Macrostomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0024523 |
BXGD001781 |
Malabsorption Syndrome |
Digestive System Diseases; Nutritional and Metabolic Diseases |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026266 |
BXGD001895 |
Mitral Valve Insufficiency |
Cardiovascular Diseases |
| C0026769 |
BXGD001930 |
Multiple Sclerosis |
Immune System Diseases; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0027612 |
BXGD002003 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027947 |
BXGD002061 |
Neutropenia |
Hemic and Lymphatic Diseases |
| C0030193 |
BXGD002191 |
Pain |
Pathological Conditions, Signs and Symptoms |
| C0036337 |
BXGD002598 |
Schizoaffective Disorder |
Mental Disorders |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037317 |
BXGD002689 |
Sleep disturbances |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0037822 |
BXGD002706 |
Speech Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038002 |
BXGD002723 |
Splenomegaly |
Pathological Conditions, Signs and Symptoms |
| C0038016 |
BXGD002727 |
Spondylolisthesis |
Musculoskeletal Diseases |
| C0038018 |
BXGD002729 |
Spondylolysis |
Musculoskeletal Diseases |
| C0040128 |
BXGD002844 |
Thyroid Diseases |
Endocrine System Diseases |
| C0041296 |
BXGD002903 |
Tuberculosis |
Infections |
| C0041324 |
BXGD002913 |
Tuberculosis, Osteoarticular |
Infections; Musculoskeletal Diseases |
| C0041671 |
BXGD002930 |
Attention Deficit Disorder |
Mental Disorders |
| C0085078 |
BXGD003118 |
Lysosomal Storage Diseases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0085207 |
BXGD003140 |
Gestational Diabetes |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0086437 |
BXGD003282 |
Joint laxity |
Musculoskeletal Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0086795 |
BXGD003311 |
Pfaundler-Hurler Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0152423 |
BXGD003587 |
Congenital small ears |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases |
| C0156173 |
BXGD003840 |
Functional diarrhea |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0158731 |
BXGD003902 |
Congenital pectus carinatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0162298 |
BXGD003933 |
Joint stiffness |
Musculoskeletal Diseases |
| C0162311 |
BXGD003935 |
Androgenetic Alopecia |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0162819 |
BXGD003984 |
Skin Diseases, Vascular |
Skin and Connective Tissue Diseases |
| C0221356 |
BXGD004448 |
Brachycephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0234221 |
BXGD004633 |
Acroparesthesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0267971 |
BXGD005798 |
Storage disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0268225 |
BXGD005857 |
Aspartylglucosaminuria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0271441 |
BXGD006203 |
Chronic otitis media |
Otorhinolaryngologic Diseases |
| C0279671 |
BXGD006677 |
Cervical Squamous Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0282577 |
BXGD006816 |
Congenital Disorders of Glycosylation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0282666 |
BXGD006824 |
Very Low Birth Weight |
|
| C0341106 |
BXGD007389 |
Eosinophilic esophagitis |
Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0343386 |
BXGD007620 |
Clostridium difficile infection |
Infections |
| C0343641 |
BXGD007636 |
Human papilloma virus infection |
Infections |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376480 |
BXGD007998 |
Gingival Overgrowth |
Stomatognathic Diseases |
| C0399526 |
BXGD008251 |
Class III malocclusion |
Stomatognathic Diseases |
| C0426576 |
BXGD008571 |
Gastrointestinal symptom |
Pathological Conditions, Signs and Symptoms |
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0524620 |
BXGD009236 |
Metabolic Syndrome X |
Nutritional and Metabolic Diseases |
| C0524910 |
BXGD009248 |
Hepatitis C, Chronic |
Digestive System Diseases; Infections |
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0566602 |
BXGD009489 |
Primary sclerosing cholangitis |
Digestive System Diseases |
| C0580413 |
BXGD009558 |
Prothrombin time low |
|
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0700201 |
BXGD009880 |
Dyssomnias |
Nervous System Diseases; Mental Disorders |
| C0702166 |
BXGD009912 |
Acne |
Skin and Connective Tissue Diseases |
| C0740651 |
BXGD010004 |
Abdominal symptom |
|
| C0851578 |
BXGD010925 |
Sleep Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C1263023 |
BXGD011888 |
Macroorchidism |
|
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1321756 |
BXGD012440 |
Achalasia |
|
| C1328440 |
BXGD012466 |
Abnormality of amino acid metabolism |
|
| C1623038 |
BXGD013475 |
Cirrhosis |
Pathological Conditions, Signs and Symptoms |
| C1832648 |
BXGD013865 |
Hypoparathyroidism familial isolated |
Endocrine System Diseases |
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836543 |
BXGD014130 |
Thick vermilion border |
|
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1836855 |
BXGD014170 |
Vacuolated lymphocytes |
|
| C1839739 |
BXGD014400 |
Thick lower lip vermilion |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1844704 |
BXGD014665 |
Platyspondyly |
|
| C1845847 |
BXGD014760 |
Coarse facial features |
Pathological Conditions, Signs and Symptoms |
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1856599 |
BXGD015619 |
Beaking of vertebral bodies |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1858452 |
BXGD015796 |
Thickened calvaria |
|
| C1859680 |
BXGD015917 |
Broad face |
|
| C1859682 |
BXGD015918 |
Hypoplastic frontal sinuses |
|
| C1864172 |
BXGD016217 |
Peroxisome Biogenesis Disorder, Complementation Group G |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1868889 |
BXGD016540 |
Irritable bowel syndrome characterized by constipation |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C1963165 |
BXGD016685 |
Malabsorption, CTCAE |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2748652 |
BXGD017604 |
Large face |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931840 |
BXGD018075 |
Aspartylglucosamidase (AGA) deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C3714745 |
BXGD019427 |
Malabsorption |
Digestive System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3806482 |
BXGD019514 |
Recurrent respiratory infections |
Infections; Respiratory Tract Diseases |
| C3845502 |
BXGD019809 |
Myocardial infarction, stroke |
|
| C4017301 |
BXGD020435 |
ASPARTYLGLUCOSAMINURIA, FINNISH TYPE |
|
| C4021541 |
BXGD020662 |
Anterior beaking of lumbar vertebrae |
|
| C4021741 |
BXGD020749 |
Abnormal cortical bone morphology |
|
| C4021768 |
BXGD020766 |
Abnormality of metabolism/homeostasis |
|
| C4025662 |
BXGD021716 |
Abnormality of the ulna |
|
| C4049006 |
BXGD021912 |
Selective immunoglobulin A deficiency |
|
| C4083212 |
BXGD022105 |
Alopecia, Male Pattern |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C4317149 |
BXGD022731 |
Vacuolated Lymphocyte Count |
|
| C4521042 |
BXGD023055 |
Complete Trisomy 21 Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|