| C0002871 |
BXGD000132 |
Anemia |
Hemic and Lymphatic Diseases |
| C0003486 |
BXGD000197 |
Aortic Aneurysm |
Cardiovascular Diseases |
| C0003864 |
BXGD000231 |
Arthritis |
Musculoskeletal Diseases |
| C0004364 |
BXGD000270 |
Autoimmune Diseases |
Immune System Diseases |
| C0004368 |
BXGD000271 |
Autoimmune state |
|
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0005890 |
BXGD000345 |
Body Height |
|
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0007682 |
BXGD000471 |
CNS disorder |
Nervous System Diseases |
| C0007820 |
BXGD000491 |
Cerebrovascular Disorders |
Nervous System Diseases; Cardiovascular Diseases |
| C0008055 |
BXGD000514 |
Chikungunya Fever |
Infections |
| C0008058 |
BXGD000515 |
Chilblains |
Wounds and Injuries |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009917 |
BXGD000635 |
Contracture |
Musculoskeletal Diseases |
| C0010823 |
BXGD000690 |
Cytomegalovirus Infections |
Infections |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013421 |
BXGD000837 |
Dystonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013604 |
BXGD000859 |
Edema |
Pathological Conditions, Signs and Symptoms |
| C0014038 |
BXGD000878 |
Encephalitis |
Nervous System Diseases |
| C0014378 |
BXGD000912 |
Enterovirus Infections |
Infections |
| C0018681 |
BXGD001214 |
Headache |
Pathological Conditions, Signs and Symptoms |
| C0018800 |
BXGD001225 |
Cardiomegaly |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0019163 |
BXGD001295 |
Hepatitis B |
Digestive System Diseases; Infections |
| C0019214 |
BXGD001307 |
Hepatosplenomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases |
| C0019340 |
BXGD001321 |
Herpes NOS |
Infections |
| C0019348 |
BXGD001325 |
Herpes Simplex Infections |
Infections; Skin and Connective Tissue Diseases |
| C0019693 |
BXGD001346 |
HIV Infections |
Infections; Immune System Diseases |
| C0019825 |
BXGD001349 |
Hoarseness |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0020302 |
BXGD001373 |
Hydrophthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0021051 |
BXGD001475 |
Immunologic Deficiency Syndromes |
Immune System Diseases |
| C0022107 |
BXGD001530 |
Irritable Mood |
Behavior and Behavior Mechanisms |
| C0022408 |
BXGD001544 |
Arthropathy |
Musculoskeletal Diseases |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023434 |
BXGD001643 |
Chronic Lymphocytic Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023465 |
BXGD001656 |
Acute monocytic leukemia |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023520 |
BXGD001678 |
Leukodystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0023787 |
BXGD001698 |
Lipodystrophy |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0023903 |
BXGD001720 |
Liver neoplasms |
Digestive System Diseases; Neoplasms |
| C0024121 |
BXGD001735 |
Lung Neoplasms |
Neoplasms; Respiratory Tract Diseases |
| C0024141 |
BXGD001740 |
Lupus Erythematosus, Systemic |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0024145 |
BXGD001742 |
Chilblain lupus 1 |
Skin and Connective Tissue Diseases; Wounds and Injuries |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026654 |
BXGD001914 |
Moyamoya Disease |
Nervous System Diseases; Cardiovascular Diseases |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0027121 |
BXGD001973 |
Myositis |
Musculoskeletal Diseases; Nervous System Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0030326 |
BXGD002209 |
Panniculitis |
Skin and Connective Tissue Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0034735 |
BXGD002487 |
Raynaud Phenomenon |
Cardiovascular Diseases |
| C0035369 |
BXGD002543 |
Retroviridae Infections |
Infections |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037771 |
BXGD002702 |
Paraparesis, Spastic |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038454 |
BXGD002760 |
Cerebrovascular accident |
Nervous System Diseases; Cardiovascular Diseases |
| C0040034 |
BXGD002836 |
Thrombocytopenia |
Hemic and Lymphatic Diseases |
| C0040822 |
BXGD002885 |
Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0042373 |
BXGD002978 |
Vascular Diseases |
Cardiovascular Diseases |
| C0042384 |
BXGD002979 |
Vasculitis |
Cardiovascular Diseases |
| C0042749 |
BXGD002998 |
Viremia |
Pathological Conditions, Signs and Symptoms; Infections |
| C0042769 |
BXGD002999 |
Virus Diseases |
Infections |
| C0043119 |
BXGD003029 |
Werner Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0078982 |
BXGD003060 |
Arhinencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0079680 |
BXGD003085 |
Lentivirus Infections |
Infections |
| C0079773 |
BXGD003100 |
Lymphoma, T-Cell, Cutaneous |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0151313 |
BXGD003413 |
Sensory neuropathy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151860 |
BXGD003490 |
Acquired porencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0151908 |
BXGD003502 |
Dry skin |
Skin and Connective Tissue Diseases |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0153676 |
BXGD003679 |
Secondary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0220630 |
BXGD004302 |
Adult Liver Carcinoma |
Digestive System Diseases; Neoplasms |
| C0221170 |
BXGD004400 |
Muscular stiffness |
Nervous System Diseases |
| C0221347 |
BXGD004442 |
Acrocyanosis |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases |
| C0234132 |
BXGD004623 |
Pyramidal sign |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0237849 |
BXGD004849 |
Peeling of skin |
|
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0263401 |
BXGD005298 |
Cutis marmorata |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries |
| C0265218 |
BXGD005467 |
Neu-Laxova syndrome |
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 |
| C0265529 |
BXGD005542 |
Plagiocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0270612 |
BXGD006081 |
Leukoencephalopathy |
Nervous System Diseases |
| C0270685 |
BXGD006084 |
Cerebral calcification |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0270922 |
BXGD006134 |
Peripheral demyelinating neuropathy |
Immune System Diseases; Nervous System Diseases |
| C0279000 |
BXGD006622 |
Liver and Intrahepatic Biliary Tract Carcinoma |
Digestive System Diseases; Neoplasms |
| C0311394 |
BXGD006884 |
Difficulty walking |
Pathological Conditions, Signs and Symptoms |
| C0333068 |
BXGD006920 |
Flexion contracture |
Musculoskeletal Diseases |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0345904 |
BXGD007745 |
Malignant neoplasm of liver |
Digestive System Diseases; Neoplasms |
| C0349506 |
BXGD007912 |
Photosensitivity of skin |
Skin and Connective Tissue Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0375021 |
BXGD007969 |
Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site |
|
| C0375206 |
BXGD007973 |
Hemiplegia/hemiparesis |
|
| C0376545 |
BXGD008002 |
Hematologic Neoplasms |
Neoplasms; Hemic and Lymphatic Diseases |
| C0393591 |
BXGD008102 |
AICARDI-GOUTIERES SYNDROME |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases |
| C0406208 |
BXGD008330 |
Suntan |
|
| C0409818 |
BXGD008396 |
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0426970 |
BXGD008598 |
Spastic Quadriplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0456097 |
BXGD008865 |
Congenital viral disease |
Infections |
| C0521573 |
BXGD009143 |
Coloboma of eyelid |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0542223 |
BXGD009274 |
Loss of speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0677886 |
BXGD009734 |
Epithelial ovarian cancer |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0796126 |
BXGD010800 |
AICARDI-GOUTIERES SYNDROME 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases |
| C0852949 |
BXGD010957 |
Arteriopathic disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C1096249 |
BXGD011612 |
Calcification of the aorta |
|
| C1280433 |
BXGD012125 |
Lipoatrophy |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C1290884 |
BXGD012198 |
Inflammatory disorder |
Pathological Conditions, Signs and Symptoms |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1389280 |
BXGD012967 |
Basal ganglia calcification |
|
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1704356 |
BXGD013549 |
Enchondroma |
Neoplasms |
| C1833434 |
BXGD013925 |
Multifocal cerebral white matter abnormalities |
Pathological Conditions, Signs and Symptoms |
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1844662 |
BXGD014655 |
Unexplained fevers |
Pathological Conditions, Signs and Symptoms |
| C1848701 |
BXGD014967 |
Elevated hepatic transaminase |
|
| C1852470 |
BXGD015284 |
Extrapyramidal muscular rigidity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1853743 |
BXGD015358 |
Muscular hypotonia of the trunk |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1856979 |
BXGD015663 |
Deep white matter hypodensities |
|
| C1856983 |
BXGD015664 |
Increased CSF interferon alpha |
|
| C1859236 |
BXGD015867 |
Prolonged neonatal jaundice |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1865361 |
BXGD016319 |
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES |
Musculoskeletal Diseases |
| C1963094 |
BXGD016681 |
Dry Skin, CTCAE |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2363142 |
BXGD017096 |
T-Cell Prolymphocytic Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C2363741 |
BXGD017100 |
HIV-1 infection |
|
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2700617 |
BXGD017474 |
Irritation - emotion |
Behavior and Behavior Mechanisms |
| C2749659 |
BXGD017630 |
AICARDI-GOUTIERES SYNDROME 5 (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2981140 |
BXGD018209 |
Glaucoma of childhood |
Eye Diseases |
| C3161330 |
BXGD018511 |
Profound intellectual disabilities |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3203102 |
BXGD018555 |
Idiopathic pulmonary arterial hypertension |
Respiratory Tract Diseases |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3280721 |
BXGD018858 |
CHILBLAIN LUPUS 2 |
|
| C3489724 |
BXGD018941 |
Aicardi-Goutieres Syndrome 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases |
| C3489725 |
BXGD018942 |
Pseudo-TORCH syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases |
| C3711385 |
BXGD019390 |
Deoxyguanosine Kinase Deficiency |
Nutritional and Metabolic Diseases |
| C3853779 |
BXGD019822 |
Neonatal Alloimmune Thrombocytopenia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C3854222 |
BXGD019826 |
Human immunodeficiency virus (HIV) II infection category B1 |
|
| C3860213 |
BXGD019844 |
Autoinflammatory disorder |
|
| C4022417 |
BXGD020898 |
Degeneration of the striatum |
Pathological Conditions, Signs and Symptoms |
| C4023169 |
BXGD021133 |
Moyamoya phenomenon |
|
| C4024229 |
BXGD021312 |
Chronic CSF lymphocytosis |
|
| C4025579 |
BXGD021676 |
Large beaked nose |
|
| C4072900 |
BXGD022018 |
Increased serum interferon-gamma level |
|
| C4082172 |
BXGD022086 |
Porencephalic cyst |
|
| C4551584 |
BXGD023362 |
Brain atrophy |
Nervous System Diseases |
| C4552810 |
BXGD023525 |
Irritability, CTCAE |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4699512 |
BXGD023639 |
Large-artery atherosclerosis (embolus/thrombosis) |
|
| C4721610 |
BXGD023760 |
Carcinoma, Ovarian Epithelial |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|