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Ontology Browser

Term:
congenital muscular dystrophy-dystroglycanopathy type A13 (DOID:0111238)
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  
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2. (DO)
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: MDDGA13 ;   Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 13 ;   Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related ;   Walker-Warburg syndrome or muscle-eye-brain disease, B4GAT1-related ;   Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related ;   congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13
Primary IDs: OMIM:615287
Alternate IDs: RDO:9000895
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/23359570

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