Hypomyelinating Leukodystrophy 23
Disease ID: disease_node_19936
Connections displayed (default: 10).
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| Dbxref | MIM:619688 |
|---|---|
| Subclassof | DOID_0060786, DOID_0050737 |
| Data Source | DOID |
| Synonyms | HLD23 |
| Doid Label | hypomyelinating leukodystrophy 23 |
| Doid Description | A hypomyelinating leukodystrophy characterized by ataxia, deafness, liver dysfunction, and dilated cardiomyopathy that has_material_basis_in homozygous mutation in the RNF220 gene on chromosome 1p34. This disease results in death in the first or second decade of life. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19936 |
| Doid Id | DOID_0070397 |
| Label | Hypomyelinating Leukodystrophy 23 |
- 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)