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Ontology Browser

Term:
autosomal dominant limb-girdle muscular dystrophy type 1 (DOID:0110305)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
autosomal dominant Emery-Dreifuss muscular dystrophy 2  
autosomal dominant limb-girdle muscular dystrophy type 1  
An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36. (DO)
autosomal dominant limb-girdle muscular dystrophy type 1H 
autosomal dominant limb-girdle muscular dystrophy type 2  
autosomal dominant limb-girdle muscular dystrophy type 3  
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4  
myofibrillar myopathy 3  
rippling muscle disease 2  

Synonyms
Exact Synonyms: LGMD1D ;   LGMD1E ;   autosomal dominant limb-girdle muscular dystrophy type 1E ;   muscular dystrophy limb-girdle type 1D ;   muscular dystrophy limb-girdle type 1E
Primary IDs: MESH:C566370 ;   MESH:C566589
Alternate IDs: OMIM:603511 ;   RDO:0014744 ;   RDO:0014903
Xrefs: ORDO:34517
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/22334415

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