| C0000889 |
BXGD000018 |
Acanthosis Nigricans |
Skin and Connective Tissue Diseases |
| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0001486 |
BXGD000056 |
Adenovirus Infections |
Infections |
| C0001973 |
BXGD000095 |
Alcoholic Intoxication, Chronic |
Chemically-Induced Disorders; Mental Disorders |
| C0002871 |
BXGD000132 |
Anemia |
Hemic and Lymphatic Diseases |
| C0003635 |
BXGD000214 |
Apraxias |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0003873 |
BXGD000236 |
Rheumatoid Arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C0004114 |
BXGD000255 |
Astrocytoma |
Neoplasms |
| C0004403 |
BXGD000272 |
Autosome Abnormalities |
Pathological Conditions, Signs and Symptoms |
| C0005684 |
BXGD000319 |
Malignant neoplasm of urinary bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0005695 |
BXGD000323 |
Bladder Neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0005754 |
BXGD000334 |
Congenital blindness |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases |
| C0006118 |
BXGD000372 |
Brain Neoplasms |
Neoplasms; Nervous System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007115 |
BXGD000432 |
Malignant neoplasm of thyroid |
Neoplasms; Endocrine System Diseases |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007134 |
BXGD000443 |
Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0008625 |
BXGD000558 |
Chromosome Aberrations |
Pathological Conditions, Signs and Symptoms |
| C0008626 |
BXGD000559 |
Congenital chromosomal disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009405 |
BXGD000607 |
Hereditary Nonpolyposis Colorectal Neoplasms |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013362 |
BXGD000817 |
Dysarthria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0014175 |
BXGD000904 |
Endometriosis |
Female Urogenital Diseases and Pregnancy Complications |
| C0014859 |
BXGD000961 |
Esophageal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015625 |
BXGD001006 |
Fanconi Anemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C0015695 |
BXGD001013 |
Fatty Liver |
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 |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0019163 |
BXGD001295 |
Hepatitis B |
Digestive System Diseases; Infections |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0019294 |
BXGD001314 |
Hernia, Inguinal |
Pathological Conditions, Signs and Symptoms |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020557 |
BXGD001432 |
Hypertriglyceridemia |
Nutritional and Metabolic Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0021051 |
BXGD001475 |
Immunologic Deficiency Syndromes |
Immune System Diseases |
| C0021655 |
BXGD001508 |
Insulin Resistance |
Nutritional and Metabolic Diseases |
| C0023267 |
BXGD001626 |
Fibroid Tumor |
Neoplasms |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023452 |
BXGD001651 |
Childhood Acute Lymphoblastic Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023518 |
BXGD001677 |
Leukocytosis |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases |
| C0023895 |
BXGD001717 |
Liver diseases |
Digestive System Diseases |
| C0024141 |
BXGD001740 |
Lupus Erythematosus, Systemic |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0024299 |
BXGD001758 |
Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024301 |
BXGD001759 |
Lymphoma, Follicular |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024305 |
BXGD001763 |
Lymphoma, Non-Hodgkin |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024312 |
BXGD001766 |
Lymphopenia |
Immune System Diseases; Hemic and Lymphatic 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 |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0026640 |
BXGD001912 |
Mouth Neoplasms |
Neoplasms; Stomatognathic Diseases |
| C0026764 |
BXGD001928 |
Multiple Myeloma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0027086 |
BXGD001970 |
Myoma |
Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0030312 |
BXGD002207 |
Pancytopenia |
Hemic and Lymphatic Diseases |
| C0035305 |
BXGD002529 |
Retinal Detachment |
Eye Diseases |
| C0035335 |
BXGD002540 |
Retinoblastoma |
Neoplasms; Eye Diseases |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036421 |
BXGD002613 |
Systemic Scleroderma |
Skin and Connective Tissue Diseases |
| C0038356 |
BXGD002747 |
Stomach Neoplasms |
Digestive System Diseases; Neoplasms |
| C0040136 |
BXGD002845 |
Thyroid Neoplasm |
Neoplasms; Endocrine System Diseases |
| C0041834 |
BXGD002935 |
Erythema |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0042133 |
BXGD002960 |
Uterine Fibroids |
Neoplasms |
| C0085110 |
BXGD003126 |
Severe Combined Immunodeficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases |
| C0085669 |
BXGD003233 |
Acute leukemia |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0151313 |
BXGD003413 |
Sensory neuropathy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151517 |
BXGD003431 |
Complete atrioventricular block |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0152018 |
BXGD003518 |
Esophageal carcinoma |
Digestive System Diseases; Neoplasms |
| C0153381 |
BXGD003626 |
Malignant neoplasm of mouth |
Neoplasms; Stomatognathic Diseases |
| C0206694 |
BXGD004245 |
Mucoepidermoid Carcinoma |
Neoplasms |
| C0220630 |
BXGD004302 |
Adult Liver Carcinoma |
Digestive System Diseases; Neoplasms |
| C0220641 |
BXGD004305 |
Lip and Oral Cavity Carcinoma |
Neoplasms; Stomatognathic Diseases |
| C0221356 |
BXGD004448 |
Brachycephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0234162 |
BXGD004627 |
Cerebellar Dysmetria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234979 |
BXGD004707 |
Dysdiadochokinesis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0238207 |
BXGD004894 |
Ectopic kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0239399 |
BXGD004981 |
Short extremities |
|
| C0239676 |
BXGD004989 |
High forehead |
|
| C0240538 |
BXGD005041 |
Convex nasal ridge |
|
| C0241210 |
BXGD005086 |
Speech Delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0241703 |
BXGD005109 |
High pitched voice |
|
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0265202 |
BXGD005461 |
Seckel syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0266294 |
BXGD005644 |
Unilateral agenesis of kidney |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0266295 |
BXGD005645 |
Congenital hypoplasia of kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266617 |
BXGD005700 |
Congenital anomaly of face |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0268138 |
BXGD005833 |
Xeroderma Pigmentosum, Complementation Group D |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0279000 |
BXGD006622 |
Liver and Intrahepatic Biliary Tract Carcinoma |
Digestive System Diseases; Neoplasms |
| C0279626 |
BXGD006657 |
Squamous cell carcinoma of esophagus |
Digestive System Diseases; Neoplasms |
| C0338106 |
BXGD007167 |
Adenocarcinoma of colon |
Digestive System Diseases; Neoplasms |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0342573 |
BXGD007508 |
PITUITARY DWARFISM I |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0345904 |
BXGD007745 |
Malignant neoplasm of liver |
Digestive System Diseases; Neoplasms |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0349506 |
BXGD007912 |
Photosensitivity of skin |
Skin and Connective Tissue Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0423109 |
BXGD008470 |
Upward slant of palpebral fissure |
|
| C0423113 |
BXGD008473 |
Telecanthus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0423224 |
BXGD008475 |
Sunken eyes |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0424711 |
BXGD008541 |
Orbital separation diminished |
|
| C0426429 |
BXGD008564 |
Broad nasal tip |
|
| C0431350 |
BXGD008668 |
Primary microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0497156 |
BXGD009053 |
Lymphadenopathy |
Hemic and Lymphatic Diseases |
| C0524528 |
BXGD009229 |
Pervasive Development Disorder |
Mental Disorders |
| C0524620 |
BXGD009236 |
Metabolic Syndrome X |
Nutritional and Metabolic Diseases |
| C0546837 |
BXGD009343 |
Malignant neoplasm of esophagus |
Digestive System Diseases; Neoplasms |
| C0549473 |
BXGD009384 |
Thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0578038 |
BXGD009542 |
Thin lips |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699885 |
BXGD009869 |
Carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0742028 |
BXGD010051 |
Cerebellar vermis atrophy |
|
| C0850666 |
BXGD010901 |
Infection caused by Helicobacter pylori |
Infections |
| C0854110 |
BXGD011000 |
Insulin-resistant diabetes mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0856863 |
BXGD011122 |
Broad-based gait |
|
| C0878787 |
BXGD011392 |
Growth failure |
|
| C0948750 |
BXGD011551 |
Salivary gland carcinoma |
Neoplasms; Stomatognathic Diseases |
| C1112155 |
BXGD011647 |
Hereditary non-polyposis colorectal cancer syndrome |
|
| C1292769 |
BXGD012230 |
Precursor B-cell lymphoblastic leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1292778 |
BXGD012237 |
Chronic myeloproliferative disorder |
Neoplasms; Hemic and Lymphatic Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| C1333990 |
BXGD012670 |
Hereditary Nonpolyposis Colorectal Cancer |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases |
| C1333991 |
BXGD012671 |
Hereditary Non-Polyposis Colon Cancer Type 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1835884 |
BXGD014061 |
Triangular face |
|
| C1836047 |
BXGD014074 |
Long face |
|
| C1837758 |
BXGD014265 |
Bird-like facies |
|
| C1837770 |
BXGD014270 |
Sparse hair |
|
| C1839798 |
BXGD014410 |
Long nose |
|
| C1842366 |
BXGD014512 |
Low anterior hairline |
|
| C1847827 |
BXGD014891 |
LIG4 Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases |
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1851057 |
BXGD015189 |
Normal motor development |
|
| C1852504 |
BXGD015287 |
Misalignment of teeth |
|
| C1854113 |
BXGD015382 |
Prominent nasal bridge |
|
| C1854418 |
BXGD015402 |
Biparietal narrowing |
|
| C1857679 |
BXGD015735 |
Sloping forehead |
|
| C1858732 |
BXGD015826 |
Malar prominence |
|
| C1859014 |
BXGD015843 |
Primary gonadal insufficiency |
|
| C1860105 |
BXGD015953 |
Severe short-limb dwarfism |
|
| C1861324 |
BXGD016029 |
Short philtrum |
|
| C1963165 |
BXGD016685 |
Malabsorption, CTCAE |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2711227 |
BXGD017478 |
Steatohepatitis |
Digestive System Diseases |
| C2749675 |
BXGD017631 |
Cortical gyral simplification |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2936783 |
BXGD018136 |
Colorectal cancer, hereditary nonpolyposis, type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3469521 |
BXGD018910 |
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C3539878 |
BXGD019087 |
Triple Negative Breast Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C3697248 |
BXGD019355 |
Short lower third of face |
|
| C3714745 |
BXGD019427 |
Malabsorption |
Digestive System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3808988 |
BXGD019565 |
FANCONI ANEMIA, COMPLEMENTATION GROUP Q |
|
| C3827253 |
BXGD019736 |
Classical Glioblastoma |
|
| C4022018 |
BXGD020872 |
Telangiectasia of the skin |
Cardiovascular Diseases |
| C4025579 |
BXGD021676 |
Large beaked nose |
|
| C4048328 |
BXGD021903 |
cervical cancer |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C4086152 |
BXGD022123 |
Childhood Astrocytoma |
Neoplasms |
| C4225288 |
BXGD022209 |
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION |
|
| C4551705 |
BXGD023397 |
Abnormality of chromosome stability |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|
| C4722419 |
BXGD023802 |
Extrapulmonary Small Cell Carcinoma |
Neoplasms |
| C4722518 |
BXGD023806 |
Triple-Negative Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C4733093 |
BXGD023908 |
progesterone receptor-negative breast cancer |
|
| C4733094 |
BXGD023909 |
progesterone receptor-positive breast cancer |
|