| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0005744 |
BXGD000330 |
Blepharophimosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| 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 |
| C0009207 |
BXGD000593 |
Cockayne Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0009319 |
BXGD000596 |
Colitis |
Digestive System Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0010495 |
BXGD000674 |
Cutis Laxa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| 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 |
| C0017168 |
BXGD001101 |
Gastroesophageal reflux disease |
Digestive System Diseases |
| C0019270 |
BXGD001311 |
Hernia |
Pathological Conditions, Signs and Symptoms |
| C0019294 |
BXGD001314 |
Hernia, Inguinal |
Pathological Conditions, Signs and Symptoms |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020302 |
BXGD001373 |
Hydrophthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0023893 |
BXGD001716 |
Liver Cirrhosis, Experimental |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0025007 |
BXGD001821 |
Measles |
Infections |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0025362 |
BXGD001866 |
Mental Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026106 |
BXGD001889 |
Mild Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026837 |
BXGD001937 |
Muscle Rigidity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0030305 |
BXGD002206 |
Pancreatitis |
Digestive System Diseases |
| C0033300 |
BXGD002403 |
Progeria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0033975 |
BXGD002447 |
Psychotic Disorders |
Mental Disorders |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0038522 |
BXGD002767 |
Subacute Sclerosing Panencephalitis |
Infections; Nervous System Diseases |
| C0079731 |
BXGD003087 |
B-Cell Lymphomas |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0086437 |
BXGD003282 |
Joint laxity |
Musculoskeletal Diseases |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0158731 |
BXGD003902 |
Congenital pectus carinatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0175754 |
BXGD004015 |
Agenesis of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0221014 |
BXGD004364 |
Reactive systemic amyloidosis |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0231341 |
BXGD004492 |
Premature aging syndrome |
Pathological Conditions, Signs and Symptoms |
| C0240543 |
BXGD005042 |
Bulbous nose |
|
| C0241074 |
BXGD005078 |
Hyperextensible skin |
|
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0262431 |
BXGD005242 |
Compression fracture of vertebral column |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries |
| C0266544 |
BXGD005691 |
Microcornea |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0268354 |
BXGD005910 |
De Barsy syndrome |
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 |
| C0276496 |
BXGD006426 |
Familial Alzheimer Disease (FAD) |
Nervous System Diseases; Mental Disorders |
| C0279606 |
BXGD006647 |
Childhood Hepatocellular Carcinoma |
Digestive System Diseases; Neoplasms |
| C0279607 |
BXGD006648 |
Adult Hepatocellular Carcinoma |
Digestive System Diseases; Neoplasms |
| C0279702 |
BXGD006685 |
Conventional (Clear Cell) Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0282577 |
BXGD006816 |
Congenital Disorders of Glycosylation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0345904 |
BXGD007745 |
Malignant neoplasm of liver |
Digestive System Diseases; Neoplasms |
| C0349204 |
BXGD007892 |
Nonorganic psychosis |
Mental Disorders |
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0399526 |
BXGD008251 |
Class III malocclusion |
Stomatognathic Diseases |
| C0409338 |
BXGD008381 |
Flexion contracture - elbow |
|
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423224 |
BXGD008475 |
Sunken eyes |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0423757 |
BXGD008504 |
Thin skin |
|
| C0423867 |
BXGD008517 |
Fine hair |
|
| C0431369 |
BXGD008674 |
Dysgenesis of corpus callosum |
|
| C0431478 |
BXGD008692 |
Posteriorly rotated ear |
|
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0432255 |
BXGD008758 |
Geroderma osteodysplastica |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases |
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0456132 |
BXGD008869 |
Large fontanelle |
|
| C0542514 |
BXGD009277 |
Blue sclera |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0578038 |
BXGD009542 |
Thin lips |
|
| C0581342 |
BXGD009560 |
Redundant skin |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| 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 |
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0740457 |
BXGD010000 |
Malignant neoplasm of kidney |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1301937 |
BXGD012300 |
Talipes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1306837 |
BXGD012377 |
Papillary Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1328504 |
BXGD012469 |
Hormone refractory prostate cancer |
Neoplasms; Male Urogenital Diseases |
| C1378703 |
BXGD012933 |
Renal carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1704272 |
BXGD013537 |
Benign Prostatic Hyperplasia |
Male Urogenital Diseases |
| C1737250 |
BXGD013725 |
Progression of non-small cell lung cancer |
|
| C1835884 |
BXGD014061 |
Triangular face |
|
| C1836646 |
BXGD014141 |
Dermal translucency |
|
| C1837260 |
BXGD014214 |
Prominent forehead |
|
| C1837761 |
BXGD014266 |
Narrow nasal ridge |
|
| C1837770 |
BXGD014270 |
Sparse hair |
|
| C1837785 |
BXGD014271 |
Prominent superficial veins |
|
| C1844704 |
BXGD014665 |
Platyspondyly |
|
| C1849089 |
BXGD015004 |
Broad forehead |
|
| C1853242 |
BXGD015322 |
Midface retrusion |
|
| C1855285 |
BXGD015483 |
Protruding ear |
|
| C1855340 |
BXGD015490 |
Bowing of the long bones |
|
| C1856087 |
BXGD015571 |
Biconcave vertebral bodies |
|
| C1856599 |
BXGD015619 |
Beaking of vertebral bodies |
|
| C1857656 |
BXGD015731 |
Prematurely aged appearance |
|
| C1858085 |
BXGD015770 |
Malar flattening |
|
| C1859778 |
BXGD015931 |
Postnatal growth retardation |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2751987 |
BXGD017751 |
Cutis Laxa, Autosomal Recessive, Type IIB |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C2981140 |
BXGD018209 |
Glaucoma of childhood |
Eye Diseases |
| C2986665 |
BXGD018237 |
Early-Stage Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C3280799 |
BXGD018865 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB |
|
| C3536715 |
BXGD019070 |
AA amyloidosis |
Nutritional and Metabolic Diseases |
| C3553764 |
BXGD019187 |
Joint hyperflexibility |
|
| C3554617 |
BXGD019228 |
Adducted thumb |
Musculoskeletal Diseases |
| C3665335 |
BXGD019275 |
Cutis laxa, autosomal recessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3805574 |
BXGD019481 |
Increased fracture rate |
|
| C4021611 |
BXGD020697 |
Abnormality of epiphysis morphology |
|
| C4024890 |
BXGD021458 |
Excessive wrinkled skin |
|
| C4025846 |
BXGD021826 |
Abnormality of vision |
|
| C4551563 |
BXGD023351 |
Microcephaly (physical finding) |
|
| C4551649 |
BXGD023382 |
Congenital Dysplasia Of The Hip |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C4755314 |
BXGD024095 |
Autosomal recessive cutis laxa type 2B |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |