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Disease Ontology Browser
muscular dystrophy-dystroglycanopathy type B6 (DOID:0110637)
Alliance: disease page
Synonyms: congenital muscular dystrophy LARGE-related; congenital muscular dystrophy type 1D; MDC1D; MDDGB6; muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6; muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
Alt IDs: OMIM:608840, ICD10CM:G71.2, ORDO:98894
Definition: 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.

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
MGI 6.24 		The Jackson Laboratory