autosomal recessive limb-girdle muscular dystrophy type 2D

Summary

DOID:0110278 - autosomal recessive limb-girdle muscular dystrophy type 2D

Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q.

Synonyms: Alpha-sarcoglycanopathy, DMDA2, Duchenne-like autosomal recessive muscular dystrophy type 2, LGMD2D, muscular dystrophy, limb-girdle, type 2D, primary adhalinopathy

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

: sgca

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011968 - autosomal recessive limb-girdle muscular dystrophy type 2D

MONDO:0011968 - autosomal recessive limb-girdle muscular dystrophy type 2D

MIM:

MIM:608099 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3; LGMDR3

MIM:608099 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3; LGMDR3

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)