| C0002736 |
BXGD000127 |
Amyotrophic Lateral Sclerosis |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine 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 |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026010 |
BXGD001886 |
Microphthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0026826 |
BXGD001935 |
Muscle Hypertonia |
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 |
| C0035309 |
BXGD002530 |
Retinal Diseases |
Eye Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0202236 |
BXGD004086 |
Triglycerides measurement |
|
| C0234632 |
BXGD004691 |
Reduced visual acuity |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0339383 |
BXGD007245 |
Choroidal and/or chorioretinal disorder |
Eye Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0392885 |
BXGD008071 |
High density lipoprotein measurement |
|
| C0523677 |
BXGD009215 |
Glycine measurement |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C1837249 |
BXGD014210 |
Malformations of Cortical Development, Group II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1844505 |
BXGD014633 |
Pointed chin |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1854418 |
BXGD015402 |
Biparietal narrowing |
|
| C1855285 |
BXGD015483 |
Protruding ear |
|
| C1857679 |
BXGD015735 |
Sloping forehead |
|
| C1862475 |
BXGD016132 |
Abnormality of retinal pigmentation |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C1998028 |
BXGD016865 |
Photoreceptor degeneration |
Eye Diseases |
| C2675111 |
BXGD017272 |
Abnormal eyelash morphology |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C3279222 |
BXGD018751 |
Aplasia/Hypoplasia of the cerebellum |
|
| C3502492 |
BXGD019046 |
Microcephaly with Chorioretinopathy, Autosomal Recessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C3665347 |
BXGD019279 |
Visual Impairment |
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 |
| C4024809 |
BXGD021425 |
Chorioretinal dysplasia |
|
| C4225362 |
BXGD022240 |
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 |
|
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721414 |
BXGD023738 |
Mantle cell lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |