Hypomyelinating Leukodystrophy 5
Disease ID: disease_node_19942
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G37.8, MIM:610532, ORDO:85163 |
|---|---|
| Subclassof | DOID_0060786, DOID_0050737 |
| Data Source | DOID |
| Synonyms | HLD5, hypomyelination-congenital cataract syndrome |
| Doid Label | hypomyelinating leukodystrophy 5 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19942 |
| Doid Id | DOID_0060793 |
| Label | Hypomyelinating Leukodystrophy 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Hypomyelinating Leukodystrophy(ID:disease_node_19923) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)