Hypomyelinating Leukodystrophy 8
Disease ID: disease_node_19938
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| Dbxref | ICD10CM:G11.1, MIM:614381 |
|---|---|
| Subclassof | DOID_0060786, DOID_0050737 |
| Data Source | DOID |
| Synonyms | HLD8 |
| Doid Label | hypomyelinating leukodystrophy 8 |
| Doid Description | A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19938 |
| Doid Id | DOID_0060797 |
| Label | Hypomyelinating Leukodystrophy 8 |
- 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)