muscular dystrophy-dystroglycanopathy type B2

Summary

DOID:0112380 - muscular dystrophy-dystroglycanopathy type B2

Disease Ontology Definition:A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.

Synonyms: congenital muscular dystrophy POMT2-related, MDDGB2

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

: pomt2

MIM:

MIM:613156 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2; MDDGB2

MIM:613156 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2; MDDGB2

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)