Hypomyelinating Leukodystrophy 26
Disease ID: disease_node_19930
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:620269 |
|---|---|
| Subclassof | DOID_0060786, DOID_0050737 |
| Data Source | DOID |
| Synonyms | HLD26 |
| Doid Label | hypomyelinating leukodystrophy 26 |
| Doid Description | A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predomitly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that has_material_basis_in homozygous mutation in the SLC35B2 gene on chromosome 6p21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19930 |
| Doid Id | DOID_0070403 |
| Label | Hypomyelinating Leukodystrophy 26 |
- 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)