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Metadata
ID DOID:0110282
Name autosomal recessive limb-girdle muscular dystrophy type 2H
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
Xrefs

ICD10CM:G71.0

OMIM:254110

ORDO:1878

Subsets

DO_rare_slim

Synonyms

LGMD2H [EXACT]

limb-girdle muscular dystrophy due to TRIM32 deficiency [EXACT]

muscular dystrophy Hutterite type [EXACT]

sarcotubular myopathy [EXACT]

Parent Relationships

is_a autosomal recessive limb-girdle muscular dystrophy

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