autosomal recessive limb-girdle muscular dystrophy type 2X

Summary

DOID:0110290 - autosomal recessive limb-girdle muscular dystrophy type 2X

Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21.

Synonyms: LGMD2X, muscular dystrophy, limb-girdle, type 2X

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

: popdc1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014782 - autosomal recessive limb-girdle muscular dystrophy type 2X

MONDO:0014782 - autosomal recessive limb-girdle muscular dystrophy type 2X

MIM:

MIM:616812 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25; LGMDR25

MIM:616812 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25; LGMDR25

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)