congenital muscular dystrophy due to integrin alpha-7 deficiency

Summary

DOID:0110639 - congenital muscular dystrophy due to integrin alpha-7 deficiency

Disease Ontology Definition:A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13.

Synonyms: congenital muscular dystrophy with integrin alpha-7 deficiency, congenital muscular dystrophy with ITGA7 deficiency, congenital myopathy due to integrin alpha-7 deficiency, congenital myopathy due to integrin alpha-7 deficiency

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

: itga7

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013177 - congenital muscular dystrophy due to integrin alpha-7 deficiency

MONDO:0013177 - congenital muscular dystrophy due to integrin alpha-7 deficiency

MIM:

MIM:613204 - MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY

MIM:613204 - MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY

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), congenital muscular dystrophy (is_a)