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Ontology Browser

Term:
congenital muscular dystrophy-dystroglycanopathy type A5 (DOID:0111241)
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  
congenital muscular dystrophy-dystroglycanopathy type A3  
congenital muscular dystrophy-dystroglycanopathy type A5  
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32. (DO)
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: MDDGA5 ;   Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related ;   congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 ;   muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
Primary IDs: OMIM:613153
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/15121789 "DO"

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