Ontology Browser

Term:
autosomal recessive limb-girdle muscular dystrophy type 2U (DOID:0110295)
Annotations: Rat: (5) Mouse: (5) Human: (6) Chinchilla: (5) Bonobo: (5) Dog: (5) Squirrel: (5)
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  
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  
An autosomal recessive limb-girdle muscular dystrophy that hhas_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21. (DO)
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: LGMD2U ;   MDDGC7 ;   autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency ;   muscular dystrophy limb-girdle type 2U ;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C7
Primary IDs: OMIM:616052
Alternate IDs: DOID:9005692 ;   RDO:9001094 ;   RDO:9003810 ;   RDO:9004294
Xrefs: ORDO:352479
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/23390185

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