| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0007758 |
BXGD000475 |
Cerebellar Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0009363 |
BXGD000599 |
Congenital ocular coloboma (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0010038 |
BXGD000643 |
Corneal Opacity |
Eye Diseases |
| C0010495 |
BXGD000674 |
Cutis Laxa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0013595 |
BXGD000858 |
Eczema |
Skin and Connective Tissue Diseases |
| C0015393 |
BXGD000981 |
Eye Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0015397 |
BXGD000983 |
Disorder of eye |
Eye Diseases |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0019214 |
BXGD001307 |
Hepatosplenomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases |
| C0019294 |
BXGD001314 |
Hernia, Inguinal |
Pathological Conditions, Signs and Symptoms |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020555 |
BXGD001431 |
Hypertrichosis |
Skin and Connective Tissue Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0020757 |
BXGD001466 |
Ichthyoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0020796 |
BXGD001468 |
Profound Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0022336 |
BXGD001535 |
Creutzfeldt-Jakob disease |
Infections; Nervous System Diseases; Mental Disorders |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0025363 |
BXGD001867 |
Mental Retardation, Psychosocial |
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 |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0033578 |
BXGD002408 |
Prostatic Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0042798 |
BXGD003003 |
Low Vision |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0085576 |
BXGD003188 |
Iron-Refractory Iron Deficiency Anemia |
Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0162834 |
BXGD003988 |
Hyperpigmentation |
Skin and Connective Tissue Diseases |
| C0206733 |
BXGD004278 |
Strawberry nevus of skin |
Neoplasms |
| C0221356 |
BXGD004448 |
Brachycephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0240063 |
BXGD005015 |
Coloboma of iris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0240538 |
BXGD005041 |
Convex nasal ridge |
|
| C0240543 |
BXGD005042 |
Bulbous nose |
|
| C0266464 |
BXGD005676 |
Polymicrogyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266551 |
BXGD005693 |
Congenital coloboma of iris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0271561 |
BXGD006213 |
Somatotropin deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0272375 |
BXGD006359 |
Antithrombin III Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0282577 |
BXGD006816 |
Congenital Disorders of Glycosylation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0338502 |
BXGD007192 |
Hypoplasia of the optic nerve |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0376329 |
BXGD007989 |
New Variant Creutzfeldt-Jakob Disease |
Infections; Nervous System Diseases; Mental Disorders |
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0409338 |
BXGD008381 |
Flexion contracture - elbow |
|
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0684276 |
BXGD009793 |
Hypsarrhythmia |
Nervous System Diseases |
| C0730290 |
BXGD009946 |
Cone Dystrophy |
Eye Diseases |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0751254 |
BXGD010366 |
Creutzfeldt-Jakob Disease, Familial |
Infections; Nervous System Diseases; Mental Disorders |
| C0854723 |
BXGD011026 |
Retinal Dystrophies |
Eye Diseases |
| C0870082 |
BXGD011309 |
Hyperkeratosis |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0917816 |
BXGD011419 |
Mental deficiency |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0936223 |
BXGD011477 |
Metastatic Prostate Carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0948740 |
BXGD011550 |
Hypoplasia of the pituitary gland |
|
| C1184919 |
BXGD011799 |
Thoracic kyphosis |
Musculoskeletal Diseases |
| C1260926 |
BXGD011844 |
Abnormal pigmentation |
|
| C1282496 |
BXGD012147 |
Metastasis from malignant tumor of prostate |
|
| C1298695 |
BXGD012251 |
Hypoplasia of optic disc |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C1328504 |
BXGD012469 |
Hormone refractory prostate cancer |
Neoplasms; Male Urogenital Diseases |
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1837899 |
BXGD014285 |
Type I transferrin isoform profile |
|
| C1839630 |
BXGD014391 |
Severe muscular hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1839739 |
BXGD014400 |
Thick lower lip vermilion |
|
| C1840379 |
BXGD014459 |
Cerebellar vermis hypoplasia |
|
| C1846149 |
BXGD014786 |
Intellectual disability, progressive |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1848701 |
BXGD014967 |
Elevated hepatic transaminase |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1860834 |
BXGD016006 |
Infantile muscular hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2315100 |
BXGD017021 |
Pediatric failure to thrive |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders |
| C2675185 |
BXGD017276 |
Kahrizi Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C2749688 |
BXGD017633 |
Abnormal isoelectric focusing of serum transferrin |
|
| C2981150 |
BXGD018211 |
Uranostaphyloschisis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C3277940 |
BXGD018725 |
Generalized hypertrichosis |
Skin and Connective Tissue Diseases |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3665346 |
BXGD019278 |
Unspecified visual loss |
Pathological Conditions, Signs and Symptoms; Eye Diseases |
| C3665347 |
BXGD019279 |
Visual Impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3665386 |
BXGD019284 |
Abnormal vision |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3714796 |
BXGD019434 |
Isolated somatotropin deficiency |
|
| C3806179 |
BXGD019498 |
Spotty hyperpigmentation |
|
| C4022738 |
BXGD020974 |
Neurodevelopmental delay |
|
| C4025250 |
BXGD021605 |
Abnormal sacrum morphology |
|
| C4025712 |
BXGD021748 |
Abnormality of the cerebellar vermis |
|
| C4049796 |
BXGD021951 |
Abnormality of cardiovascular system morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4317224 |
BXGD022736 |
Congenital disorder of glycosylation type 1q |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C4551563 |
BXGD023351 |
Microcephaly (physical finding) |
|
| C4551675 |
BXGD023384 |
Keratoderma, Palmoplantar |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C4551714 |
BXGD023398 |
Rod-Cone Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C4553962 |
BXGD023553 |
Hyperkeratosis, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|