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Ontology Browser

Term:
congenital muscular dystrophy-dystroglycanopathy type A (DOID:0111229)
Annotations: Rat: (24) Mouse: (24) Human: (27) Chinchilla: (24) Bonobo: (24) Dog: (24) Squirrel: (24) Pig: (24)
Parent Terms Term With Siblings Child Terms
autosomal recessive limb-girdle muscular dystrophy type 2P  
COD (Cerebroocular Dysgenesis) 
Congenital Muscular Dystrophy with Central Nervous System Involvement 
congenital muscular dystrophy-dystroglycanopathy type A +   
A muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing. (DO)
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1  
Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 14  
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2  
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3  
Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4  
muscular dystrophy-dystroglycanopathy type B5  
muscular dystrophy-dystroglycanopathy type B6  

Synonyms
Exact Synonyms: MDDGA ;   congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ;   klissencephaly type 2 with muscular and ocular involvement
Xrefs: OMIM:PS236670 ;   ORDO:352687
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/23453667

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