autosomal recessive limb-girdle muscular dystrophy type 2H

Summary

DOID:0110282 - autosomal recessive limb-girdle muscular dystrophy type 2H

Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q.

Synonyms: LGMD2H, limb-girdle muscular dystrophy due to TRIM32 deficiency, muscular dystrophy Hutterite type, sarcotubular myopathy

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

: trim32

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009683 - autosomal recessive limb-girdle muscular dystrophy type 2H

MONDO:0009683 - autosomal recessive limb-girdle muscular dystrophy type 2H

MIM:

MIM:254110 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8

MIM:254110 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8

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)