Ontology Browser

Term:
autosomal recessive limb-girdle muscular dystrophy type 2H (DOID:0110282)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2)
Parent Terms Term With Siblings Child Terms
autosomal recessive limb-girdle muscular dystrophy 23  
autosomal recessive limb-girdle muscular dystrophy type 2A  
autosomal recessive limb-girdle muscular dystrophy type 2B  
autosomal recessive limb-girdle muscular dystrophy type 2C  
autosomal recessive limb-girdle muscular dystrophy type 2D  
autosomal recessive limb-girdle muscular dystrophy type 2E  
autosomal recessive limb-girdle muscular dystrophy type 2F  
autosomal recessive limb-girdle muscular dystrophy type 2G  
autosomal recessive limb-girdle muscular dystrophy type 2H  
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. (DO)
autosomal recessive limb-girdle muscular dystrophy type 2I  
autosomal recessive limb-girdle muscular dystrophy type 2J  
autosomal recessive limb-girdle muscular dystrophy type 2K  
autosomal recessive limb-girdle muscular dystrophy type 2L  
autosomal recessive limb-girdle muscular dystrophy type 2M  
autosomal recessive limb-girdle muscular dystrophy type 2N  
autosomal recessive limb-girdle muscular dystrophy type 2O  
autosomal recessive limb-girdle muscular dystrophy type 2P  
autosomal recessive limb-girdle muscular dystrophy type 2Q  
autosomal recessive limb-girdle muscular dystrophy type 2S  
autosomal recessive limb-girdle muscular dystrophy type 2T  
autosomal recessive limb-girdle muscular dystrophy type 2U  
autosomal recessive limb-girdle muscular dystrophy type 2W  
autosomal recessive limb-girdle muscular dystrophy type 2X  
autosomal recessive limb-girdle muscular dystrophy type 2Y  
myofibrillar myopathy 1  

Synonyms
Exact Synonyms: LGMD2H ;   Muscular Dystrophy, Limb-Girdle, Type 2H ;   Muscular dystrophy Hutterite type ;   Sarcotubular myopathy ;   limb-girdle muscular dystrophy due to TRIM32 deficiency
Primary IDs: MESH:C535897
Alternate IDs: OMIM:254110 ;   RDO:0001262
Xrefs: ORDO:1878
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/11822024

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.