Walker-Warburg Syndrome
Disease ID: disease_node_12527
Connections displayed (default: 10).
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| Dbxref | GARD:2599, MESH:D058494 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050557 |
| Data Source | DOID, MESH |
| Synonyms | HARD syndrome, cerebroocular dysplasia-muscular dystrophy syndrome |
| Mesh Id | D058494 |
| Mesh Label | Walker-Warburg Syndrome |
| Mesh Subclassof | D015785, D009136, D054222 |
| Doid Label | Walker-Warburg syndrome |
| Doid Description | A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_12527 |
| Doid Id | DOID_0050560 |
| Label | Walker-Warburg Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy(ID:disease_node_17393) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)