Hypomyelinating Leukodystrophy 12
Disease ID: disease_node_19939
Connections displayed (default: 10).
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| Dbxref | MIM:616683 |
|---|---|
| Subclassof | DOID_0060786, DOID_0050737 |
| Data Source | DOID |
| Synonyms | HLD12 |
| Doid Label | hypomyelinating leukodystrophy 12 |
| Doid Description | A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19939 |
| Doid Id | DOID_0060796 |
| Label | Hypomyelinating Leukodystrophy 12 |
- 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)