Hypomyelinating Leukodystrophy 13
Disease ID: disease_node_19940
Connections displayed (default: 10).
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| Dbxref | MIM:616881 |
|---|---|
| Subclassof | DOID_0060786, DOID_0050737 |
| Data Source | DOID |
| Synonyms | HLD13 |
| Doid Label | hypomyelinating leukodystrophy 13 |
| Doid Description | A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19940 |
| Doid Id | DOID_0060795 |
| Label | Hypomyelinating Leukodystrophy 13 |
- 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)