muscular dystrophy-dystroglycanopathy type B3

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Summary

Literature (0)

DOID:0112378 - muscular dystrophy-dystroglycanopathy type B3

Disease Ontology Definition:A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1.

Synonyms: congenital muscular dystrophy POMGNT1-related, MDDGB3

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

: pomgnt1

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), muscular dystrophy-dystroglycanopathy type B (is_a)