Hypomyelinating Leukodystrophy 21
Disease ID: disease_node_19926
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| Dbxref | MIM:619310 |
|---|---|
| Subclassof | DOID_0060786, DOID_0050737 |
| Data Source | DOID |
| Synonyms | HLD21 |
| Doid Label | hypomyelinating leukodystrophy 21 |
| Doid Description | A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that has_material_basis_in homozygous mutation in the POLR3K gene on chromosome 16p13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19926 |
| Doid Id | DOID_0070407 |
| Label | Hypomyelinating Leukodystrophy 21 |
- 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)