Hypomyelinating Leukodystrophy 20
Disease ID: disease_node_19924
Connections displayed (default: 10).
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| Dbxref | MIM:619071 |
|---|---|
| Subclassof | DOID_0060786, DOID_0050737 |
| Data Source | DOID |
| Synonyms | HLD20 |
| Doid Label | hypomyelinating leukodystrophy 20 |
| Doid Description | A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19924 |
| Doid Id | DOID_0112153 |
| Label | Hypomyelinating Leukodystrophy 20 |
- 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)