Hypomyelinating Leukodystrophy 19
Disease ID: disease_node_19933
Connections displayed (default: 10).
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| Dbxref | MIM:618688 |
|---|---|
| Subclassof | DOID_0050736, DOID_0060786 |
| Data Source | DOID |
| Synonyms | HLD19 |
| Doid Label | hypomyelinating leukodystrophy 19 |
| Doid Description | A hypomyelinating leukodystrophy characterized by onset of transient neurologic abnormalities in early infancy with resolution within the first or second decades that has_material_basis_in heterozygous mutation in the TMEM63A gene on chromosome 1q42. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19933 |
| Doid Id | DOID_0070400 |
| Label | Hypomyelinating Leukodystrophy 19 |
- Outgoing r'ship
SUBCLASS_OFto/from Hypomyelinating Leukodystrophy(ID:disease_node_19923) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)