Hypomyelinating Leukodystrophy 4
Disease ID: disease_node_19946
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E75.2, MIM:612233, ORDO:280288 |
|---|---|
| Subclassof | DOID_0060786, DOID_0050737 |
| Data Source | DOID |
| Synonyms | HLD4, MitCHAP60 disease, Pelizaeus-Merzbacher-like disease due to HSPD1 mutation, mitochondrial HSP60 chaperonopathy |
| Doid Label | hypomyelinating leukodystrophy 4 |
| Doid Description | A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19946 |
| Doid Id | DOID_0060789 |
| Label | Hypomyelinating Leukodystrophy 4 |
- 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)