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Disease Ontology Browser
muscular dystrophy-dystroglycanopathy type B5 (DOID:0110635)
Alliance: disease page
Synonyms: congenital muscular dystrophy 1C; FKRP-related congenital muscular dystrophy; MDC1C; MDDGB5; 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
Alt IDs: OMIM:606612, ICD10CM:G71.2, ORDO:52428
Definition: 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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
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