Hypomyelinating Leukodystrophy 11
Disease ID: disease_node_19943
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G11.1, MIM:616494 |
|---|---|
| Subclassof | DOID_0060786, DOID_0050737 |
| Data Source | DOID |
| Synonyms | HLD11 |
| Doid Label | hypomyelinating leukodystrophy 11 |
| Doid Description | A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19943 |
| Doid Id | DOID_0060792 |
| Label | Hypomyelinating Leukodystrophy 11 |
- 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)