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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Collagen VI-related Myopathy +   
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
congenital merosin-deficient muscular dystrophy 1A +   
congenital muscular dystrophy 1B 
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
congenital muscular dystrophy due to integrin alpha-7 deficiency  
congenital muscular dystrophy due to LMNA mutation  
Congenital Muscular Dystrophy plus Mental Retardation 
congenital muscular dystrophy with cataracts and intellectual disability  
Congenital Muscular Dystrophy with Cerebellar Atrophy 
Congenital Muscular Dystrophy with Rapid Progression  
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 
Congenital Muscular Dystrophy, Davignon-Chauveau Type  
congenital myasthenic syndrome 10  
megaconial type congenital muscular dystrophy  
MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES  
muscular dystrophy-dystroglycanopathy +   
A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan. (DO)
rigid spine muscular dystrophy 1  
Walker-Warburg syndrome +   

Synonyms
Exact Synonyms: CMD due to dystroglycanopathy ;   MDDG ;   congenital muscular dystrophy due to dystroglycanopathy
Xrefs: ORDO:370953
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/19299310/ "DO" "DO"

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