Muscular Dystrophy-Dystroglycanopathy Type B6
Disease ID: disease_node_17404
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G71.2, MIM:608840, ORDO:98894 |
|---|---|
| Subclassof | DOID_0112375, DOID_0050737 |
| Data Source | DOID |
| Synonyms | MDC1D, MDDGB6, congenital muscular dystrophy LARGE-related, congenital muscular dystrophy type 1D, muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6, muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 |
| Doid Label | muscular dystrophy-dystroglycanopathy type B6 |
| Doid Description | A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17404 |
| Doid Id | DOID_0110637 |
| Label | Muscular Dystrophy-Dystroglycanopathy Type B6 |
- 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)