Hypomyelinating Leukodystrophy 16
Disease ID: disease_node_19928
Connections displayed (default: 10).
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| Dbxref | MIM:617964 |
|---|---|
| Subclassof | DOID_0050736, DOID_0060786 |
| Data Source | DOID |
| Synonyms | HLD16 |
| Doid Label | hypomyelinating leukodystrophy 16 |
| Doid Description | A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19928 |
| Doid Id | DOID_0070405 |
| Label | Hypomyelinating Leukodystrophy 16 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Hypomyelinating Leukodystrophy(ID:disease_node_19923) (Disease)