| C0001815 |
BXGD000078 |
Primary Myelofibrosis |
Hemic and Lymphatic Diseases |
| C0002170 |
BXGD000105 |
Alopecia |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0002736 |
BXGD000127 |
Amyotrophic Lateral Sclerosis |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0009375 |
BXGD000602 |
Colonic Neoplasms |
Digestive System Diseases; Neoplasms |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0010606 |
BXGD000677 |
Adenoid Cystic Carcinoma |
Neoplasms |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014588 |
BXGD000937 |
Epispadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0014859 |
BXGD000961 |
Esophageal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0015300 |
BXGD000973 |
Exophthalmos |
Eye Diseases |
| C0016842 |
BXGD001083 |
Congenital pectus excavatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0019288 |
BXGD001313 |
Hernia, Femoral |
Pathological Conditions, Signs and Symptoms |
| C0019294 |
BXGD001314 |
Hernia, Inguinal |
Pathological Conditions, Signs and Symptoms |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020608 |
BXGD001443 |
Hypodontia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0023234 |
BXGD001622 |
Legg-Calve-Perthes Disease |
Musculoskeletal Diseases |
| C0023267 |
BXGD001626 |
Fibroid Tumor |
Neoplasms |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0025149 |
BXGD001826 |
Medulloblastoma |
Neoplasms |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0025995 |
BXGD001885 |
Micromelia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0026987 |
BXGD001957 |
Myelofibrosis |
Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases |
| C0027051 |
BXGD001963 |
Myocardial Infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0029422 |
BXGD002142 |
Osteochondrodysplasias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0032580 |
BXGD002362 |
Adenomatous Polyposis Coli |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0033860 |
BXGD002438 |
Psoriasis |
Skin and Connective Tissue Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0040457 |
BXGD002867 |
Tooth, Supernumerary |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0042133 |
BXGD002960 |
Uterine Fibroids |
Neoplasms |
| C0149721 |
BXGD003349 |
Left Ventricular Hypertrophy |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0152018 |
BXGD003518 |
Esophageal carcinoma |
Digestive System Diseases; Neoplasms |
| C0153349 |
BXGD003621 |
Malignant neoplasm of tongue |
Neoplasms; Stomatognathic Diseases |
| C0158731 |
BXGD003902 |
Congenital pectus carinatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0206733 |
BXGD004278 |
Strawberry nevus of skin |
Neoplasms |
| C0221352 |
BXGD004444 |
Syndactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0221357 |
BXGD004449 |
Brachydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0235833 |
BXGD004775 |
Congenital diaphragmatic hernia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0239137 |
BXGD004965 |
Coxa valga |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0239138 |
BXGD004966 |
Hip joint varus deformity - observation |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0265205 |
BXGD005462 |
Robinow Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases |
| C0265563 |
BXGD005550 |
Congenital dislocation of radial head |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265677 |
BXGD005564 |
Congenital hemivertebra |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266061 |
BXGD005618 |
Open Bite |
Stomatognathic Diseases |
| C0266111 |
BXGD005620 |
Bifid tongue |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266362 |
BXGD005657 |
Ambiguous Genitalia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| 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 |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0302592 |
BXGD006851 |
Cervix carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0341787 |
BXGD007422 |
Bifid scrotum |
|
| C0346957 |
BXGD007836 |
Disseminated Malignant Neoplasm |
Neoplasms |
| C0349566 |
BXGD007928 |
Squamous cell carcinoma of tongue |
Neoplasms; Stomatognathic Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0376480 |
BXGD007998 |
Gingival Overgrowth |
Stomatognathic Diseases |
| C0399352 |
BXGD008236 |
Developmental absence of tooth |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0409348 |
BXGD008384 |
Flexion contracture of proximal interphalangeal joint |
|
| C0410528 |
BXGD008430 |
Skeletal dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0423109 |
BXGD008470 |
Upward slant of palpebral fissure |
|
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0426421 |
BXGD008561 |
Wide nose |
|
| C0426428 |
BXGD008563 |
Bifid nasal tip |
|
| C0426848 |
BXGD008590 |
Sacral dimple |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0431380 |
BXGD008680 |
Cortical Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0431478 |
BXGD008692 |
Posteriorly rotated ear |
|
| C0521525 |
BXGD009139 |
Short neck |
|
| C0542514 |
BXGD009277 |
Blue sclera |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0546837 |
BXGD009343 |
Malignant neoplasm of esophagus |
Digestive System Diseases; Neoplasms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0558353 |
BXGD009451 |
Tongue Carcinoma |
Neoplasms; Stomatognathic Diseases |
| C0559483 |
BXGD009472 |
Pentalogy of Cantrell |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0566899 |
BXGD009494 |
Small labia majora |
|
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1303001 |
BXGD012317 |
Congenital euryblepharon |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1328407 |
BXGD012465 |
Hip Dysplasia |
Musculoskeletal Diseases; Wounds and Injuries |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1442965 |
BXGD013064 |
Avascular necrosis of the capital femoral epiphysis |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1800706 |
BXGD013755 |
Idiopathic Pulmonary Fibrosis |
Respiratory Tract Diseases |
| C1832117 |
BXGD013798 |
Short humerus |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1837260 |
BXGD014214 |
Prominent forehead |
|
| C1837404 |
BXGD014229 |
High, narrow palate |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1843108 |
BXGD014556 |
Short palm |
|
| C1844527 |
BXGD014640 |
Clitoral hypoplasia |
|
| C1849295 |
BXGD015031 |
Hypoplastic labia minora |
|
| C1849311 |
BXGD015034 |
Short 1st metacarpal |
|
| C1849340 |
BXGD015039 |
Long palpebral fissure |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1849392 |
BXGD015047 |
Ridged fingernail |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1853242 |
BXGD015322 |
Midface retrusion |
|
| C1853738 |
BXGD015357 |
Long eyelashes |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1854409 |
BXGD015398 |
Naevus flammeus of the eyelid |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C1858085 |
BXGD015770 |
Malar flattening |
|
| C1861324 |
BXGD016029 |
Short philtrum |
|
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1866195 |
BXGD016385 |
Downturned corners of mouth |
|
| C1866730 |
BXGD016419 |
Rhizomelia |
|
| C1968605 |
BXGD016719 |
Limited elbow flexion/extension |
|
| C1968607 |
BXGD016721 |
Hypoplastic distal humeri |
|
| C1969532 |
BXGD016779 |
Rhizomelic arm shortening |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2673670 |
BXGD017220 |
Curly eyelashes |
|
| C2750355 |
BXGD017657 |
Omodysplasia 2 |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C2750604 |
BXGD017672 |
Median cleft lip and palate |
|
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C3494422 |
BXGD018966 |
Retrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3888788 |
BXGD019984 |
Minimal hepatic encephalopathy |
|
| C4020952 |
BXGD020505 |
Fingernail dysplasia |
|
| C4022477 |
BXGD020902 |
Onychogryposis of fingernail |
|
| C4025790 |
BXGD021791 |
Specific learning disability |
|
| C4082304 |
BXGD022090 |
Oligodontia |
|
| C4225164 |
BXGD022165 |
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 |
|
| C4225363 |
BXGD022241 |
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 |
|
| C4510897 |
BXGD022990 |
Omodysplasia |
|