muscular dystrophy-dystroglycanopathy type B14

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Summary

Literature (0)

DOID:0112377 - muscular dystrophy-dystroglycanopathy type B14

Disease Ontology Definition:A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31.

Synonyms: MDDGB14, congenital muscular dystrophy GMPPB-related,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gmppb

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), muscular dystrophy-dystroglycanopathy type B (is_a)