autosomal recessive limb-girdle muscular dystrophy type 2P

Summary

DOID:0110293 - autosomal recessive limb-girdle muscular dystrophy type 2P

Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21.

Synonyms: LGMD2P, MDDGC9, muscular dystrophy-dystroglycanopathy (limb-girdle) type C9, muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related

Echinobase 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

: dag1

MIM:

MIM:613818 - muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 9; mddgc9

MIM:613818 - muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 9; mddgc9

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

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

Parent(s): autosomal recessive limb-girdle muscular dystrophy (is_a)