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Ontology Browser

Term:
congenital muscular dystrophy-dystroglycanopathy type A2 (DOID:0111240)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
congenital muscular dystrophy-dystroglycanopathy A14  
congenital muscular dystrophy-dystroglycanopathy A7  
congenital muscular dystrophy-dystroglycanopathy type A1  
congenital muscular dystrophy-dystroglycanopathy type A10  
congenital muscular dystrophy-dystroglycanopathy type A11  
congenital muscular dystrophy-dystroglycanopathy type A12  
congenital muscular dystrophy-dystroglycanopathy type A13  
congenital muscular dystrophy-dystroglycanopathy type A2  
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3. (DO)
congenital muscular dystrophy-dystroglycanopathy type A3  
congenital muscular dystrophy-dystroglycanopathy type A5  
congenital muscular dystrophy-dystroglycanopathy type A6  
congenital muscular dystrophy-dystroglycanopathy type A8  
congenital muscular dystrophy-dystroglycanopathy type A9  
Fukuyama congenital muscular dystrophy  

Synonyms
Exact Synonyms: MDDGA2 ;   Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related ;   congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 ;   muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
Primary IDs: OMIM:613150
Xrefs: NCI:C126742
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/15894594 "DO"

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