Hypomyelinating Leukodystrophy 2
Disease ID: disease_node_19948
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E75.2, MIM:608804, ORDO:280282 |
|---|---|
| Subclassof | DOID_0060786, DOID_0050737 |
| Data Source | DOID |
| Synonyms | HLD2, PMLD1, Pelizaeus-Merzbacher-like disease 1, Pelizaeus-Merzbacher-like disease due to GJC2 mutation |
| Doid Label | hypomyelinating leukodystrophy 2 |
| Doid Description | A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19948 |
| Doid Id | DOID_0060787 |
| Label | Hypomyelinating Leukodystrophy 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Hypomyelinating Leukodystrophy(ID:disease_node_19923) (Disease)