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Ontology Browser

Term:
congenital muscular dystrophy-dystroglycanopathy type A3 (DOID:0111236)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
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  
congenital muscular dystrophy-dystroglycanopathy type A3  
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1. (DO)
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: MDDGA3 ;   Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related ;   congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3 ;   muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
Primary IDs: OMIM:253280
Xrefs: NCI:C126740
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/11709191 "DO"

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