Hypomyelinating Leukodystrophy 25
Disease ID: disease_node_19932
Connections displayed (default: 10).
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| Dbxref | MIM:620243 |
|---|---|
| Subclassof | DOID_0050736, DOID_0060786 |
| Data Source | DOID |
| Synonyms | HLD25 |
| Doid Label | hypomyelinating leukodystrophy 25 |
| Doid Description | A hypomyelinating leukodystrophy characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. that has_material_basis_in heterozygous mutation in the TMEM163 gene on chromosome 2q21. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19932 |
| Doid Id | DOID_0070401 |
| Label | Hypomyelinating Leukodystrophy 25 |
- 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)