Muscular Dystrophy-Dystroglycanopathy Type B5
Disease ID: disease_node_17405
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| Dbxref | ICD10CM:G71.2, MIM:606612, ORDO:52428 |
|---|---|
| Subclassof | DOID_0112375, DOID_0050737 |
| Data Source | DOID |
| Synonyms | FKRP-related congenital muscular dystrophy, MDC1C, MDDGB5, congenital muscular dystrophy 1C, muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5, muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 |
| Doid Label | muscular dystrophy-dystroglycanopathy type B5 |
| Doid Description | A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17405 |
| Doid Id | DOID_0110635 |
| Label | Muscular Dystrophy-Dystroglycanopathy Type B5 |
- Outgoing r'ship
SUBCLASS_OFto/from Muscular Dystrophy-Dystroglycanopathy Type B(ID:disease_node_17397) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)