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Ontology Browser

Term:
autosomal dominant Emery-Dreifuss muscular dystrophy 2 (DOID:0070247)
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  
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of LMNA on chromosome 1q22. (DO)
autosomal dominant limb-girdle muscular dystrophy type 1  
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  
autosomal recessive Emery-Dreifuss muscular dystrophy 3  
myofibrillar myopathy 3  
rippling muscle disease 2  

Synonyms
Exact Synonyms: EDMD2 ;   EMD2 ;   Emery Dreifuss muscular dystrophy 2 ;   Emery-Dreifuss muscular dystrophy, autosomal dominant ;   Hauptmann-Thannhauser muscular dystrophy ;   LGMD1B ;   autosomal dominant limb-girdle muscular dystrophy type 1B ;   limb-girdle muscular dystrophy due to lamin A/C deficiency ;   muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant ;   muscular dystrophy, limb-girdle type 1B ;   proximal muscular dystrophy type 1B ;   scapuloilioperoneal atrophy with cardiopathy
Primary IDs: OMIM:181350
Alternate IDs: DOID:0110301 ;   MESH:D000083144
Xrefs: NCI:C126745 ;   ORDO:264
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/10080180 "DO", https://www.ncbi.nlm.nih.gov/pubmed/10814726 "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=30055862 "DO"

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