Hypomyelinating Leukodystrophy 3
Disease ID: disease_node_19945
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E75.2, MIM:260600, ORDO:280293 |
|---|---|
| Subclassof | DOID_0060786, DOID_0050737 |
| Data Source | DOID |
| Synonyms | HLD3, Pelizaeus-Merzbacher-like disease due to AIMP1 mutation |
| Doid Label | hypomyelinating leukodystrophy 3 |
| Doid Description | A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19945 |
| Doid Id | DOID_0060790 |
| Label | Hypomyelinating Leukodystrophy 3 |
- 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)