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Ontology Browser

Term:
autosomal dominant limb-girdle muscular dystrophy type 2 (DOID:0110304)
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  
autosomal dominant limb-girdle muscular dystrophy type 1H 
autosomal dominant limb-girdle muscular dystrophy type 2  
An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32. (DO)
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: LGMD1F ;   autosomal dominant limb-girdle muscular dystrophy type 1F ;   muscular dystrophy limb-girdle type 1F
Primary IDs: MESH:C564242
Alternate IDs: OMIM:608423 ;   RDO:0013268
Xrefs: ORDO:55595
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/23543484 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23667635 "DO"

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