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Term:
autosomal recessive limb-girdle muscular dystrophy type 2Q (DOID:0110285)
Annotations: Rat: (28) Mouse: (28) Human: (30) Chinchilla: (28) Bonobo: (28) Dog: (26) Squirrel: (28) Pig: (27)
Parent Terms Term With Siblings Child Terms
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 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  
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene. (DO)
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  
Congenital Disorder of Glycosylation Type 1O  
myofibrillar myopathy 1  

Synonyms
Exact Synonyms: LGMD2Q ;   autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency ;   muscular dystrophy, limb-girdle, type 2Q
Primary IDs: OMIM:613723
Alternate IDs: RDO:0009955
Xrefs: ORDO:254361
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/21109228

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