Hypomyelinating Leukodystrophy 9
Disease ID: disease_node_19944
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E75.2, MIM:616140, ORDO:438114 |
|---|---|
| Subclassof | DOID_0060786, DOID_0050737 |
| Data Source | DOID |
| Synonyms | HLD9, RARS-related autosomal recessive hypomyelinating leukodystrophy |
| Doid Label | hypomyelinating leukodystrophy 9 |
| Doid Description | A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19944 |
| Doid Id | DOID_0060791 |
| Label | Hypomyelinating Leukodystrophy 9 |
- 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)