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Summary Literature (0)
DOID:0110637 - muscular dystrophy-dystroglycanopathy type B6

Disease Ontology 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.

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,

Xenbase Genes : large1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012138 - muscular dystrophy-dystroglycanopathy type B6


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), congenital muscular dystrophy (is_a)