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Ontology Browser

Term:
congenital muscular dystrophy-dystroglycanopathy A7 (DOID:0111234)
Annotations: Rat: (5) Mouse: (5) Human: (6) Chinchilla: (5) Bonobo: (5) Dog: (5) Squirrel: (5) Pig: (5)
Parent Terms Term With Siblings Child Terms
congenital muscular dystrophy-dystroglycanopathy A14  
congenital muscular dystrophy-dystroglycanopathy A7  
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1. (DO)
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  
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: MDDGA7 ;   Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related ;   congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 ;   muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Broad Synonyms: ISPD-related disorder
Primary IDs: OMIM:614643
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/22522420 "DO"

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