Search Ontology:
Human Disease
hypomyelinating leukodystrophy 5
- Term ID
- DOID:0060793
- Synonyms
-
- HLD5
- hypomyelination-congenital cataract syndrome
- Definition
- A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15. (2)
- References
-
- ICD10CM:G37.8
- MIM:610532
- ORDO:85163
- Ontology
- Human Disease ( DOID:0060793 )
- is a type of
-
Show first 5 Terms
Other Pages
Genes Involved
Zebrafish Models