Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Emery-Dreifuss muscular dystrophy (DOID:11726)
Annotations: Rat: (35) Mouse: (35) Human: (41) Chinchilla: (32) Bonobo: (34) Dog: (36) Squirrel: (33) Pig: (34)
Parent Terms Term With Siblings Child Terms
muscular dystrophy +     
Adult-Onset Muscular Dystrophy with Leukoencephalopathy 
Alpha-B Crystallinopathy with Cataract 
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Bassoe Syndrome 
Becker muscular dystrophy +   
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
congenital muscular dystrophy +   
distal myopathy +   
Duchenne muscular dystrophy +   
Emery-Dreifuss muscular dystrophy +   
A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.
facioscapulohumeral muscular dystrophy +   
glycogen storage disease VII  
limb-girdle muscular dystrophy +   
Muscular Dystrophy, Animal +   
Muscular Dystrophy, Barnes Type 
Muscular Dystrophy, Cardiac Type 
Muscular Dystrophy, Mabry Type 
Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 
Myofibrillar Myopathy, ZASP-Related  
Myopathy with Abnormal Lipid Metabolism  
MYOPATHY, SCAPULOHUMEROPERONEAL  
myotonic disease +   
oculopharyngeal muscular dystrophy +   
Oculopharyngodistal Myopathy  
Progressive Muscular Dystrophy, Pectorodorsal 
rigid spine muscular dystrophy 1  
scapuloperoneal myopathy +   
Vacuolar Neuromyopathy 

Synonyms
Exact Synonyms: Benign Scapuloperoneal Muscular Dystrophy with Early Contractures ;   EDMD ;   Emery Dreifuss syndrome ;   Emery-Dreifuss Type Muscular Dystrophy ;   X-linked Emery-Dreifuss muscular dystrophy ;   X-linked scapuloperoneal syndrome ;   autosomal dominant Emery Dreifuss muscular dystrophy ;   autosomal recessive Emery Dreifuss muscular dystrophy ;   benign scapuloperoneal muscular dystrophy with cardiomyopathy ;   humeroperoneal neuromuscular disease ;   scapuloilioperoneal atrophy with cardiopathy
Primary IDs: MESH:D020389
Alternate IDs: RDO:0001018
Xrefs: GARD:6329 ;   NCI:C84685 ;   OMIM:PS310300 ;   ORDO:261
Definition Sources: MESH:D020389, http://en.wikipedia.org/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy, http://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy

paths to the root

NHLBI Logo

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