ZFIN Human Disease: autosomal recessive limb-girdle muscular dystrophy type 2H

OBO ID: DOID:0110282

Term Name:	autosomal recessive limb-girdle muscular dystrophy type 2H		Search Ontology:
Synonyms:	LGMD2H limb-girdle muscular dystrophy due to TRIM32 deficiency muscular dystrophy Hutterite type sarcotubular myopathy
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. https://www.ncbi.nlm.nih.gov/pubmed/11822024
References:	ICD10CM:G71.0 OMIM:254110 ORDO:1878
Ontology:	Human Disease ( DOID:0110282 )

Relationships

is a type of:	autosomal recessive limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy Show first 5 Terms

OTHER autosomal recessive limb-girdle muscular dystrophy type 2H PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TRIM32	trim32	Muscular dystrophy, limb-girdle, autosomal recessive 8	254110

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None