Hypomyelinating Leukodystrophy 15
Disease ID: disease_node_19935
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| Dbxref | MIM:617951 |
|---|---|
| Subclassof | DOID_0060786, DOID_0050737 |
| Data Source | DOID |
| Synonyms | HLD15 |
| Doid Label | hypomyelinating leukodystrophy 15 |
| Doid Description | A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the EPRS1 gene on chromosome 1q41. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19935 |
| Doid Id | DOID_0070398 |
| Label | Hypomyelinating Leukodystrophy 15 |
- 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)