Muscular Dystrophy-Dystroglycanopathy Type B1
Disease ID: disease_node_17403
Connections displayed (default: 10).
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| Dbxref | MIM:613155 |
|---|---|
| Subclassof | DOID_0112375, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CMD due to dystroglycanopathy, Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1 |
| Doid Label | muscular dystrophy-dystroglycanopathy type B1 |
| Doid Description | A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase. Xref MGI. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17403 |
| Doid Id | DOID_0050588 |
| Label | Muscular Dystrophy-Dystroglycanopathy Type B1 |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Muscular Dystrophy-Dystroglycanopathy Type B(ID:disease_node_17397) (Disease)