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Term:
Fukuyama congenital muscular dystrophy (DOID:0050559)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
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  
congenital muscular dystrophy-dystroglycanopathy type A6  
congenital muscular dystrophy-dystroglycanopathy type A8  
congenital muscular dystrophy-dystroglycanopathy type A9  
Fukuyama congenital muscular dystrophy  
A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein. (DO)

Synonyms
Exact Synonyms: MDDGA4 ;   Walker-Warburg Syndrome, Fktn-Related ;   Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related ;   muscular dystrophy due to defective glycosylation of dystroglycan 4A ;   muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A4
Primary IDs: MESH:C567727
Alternate IDs: OMIM:253800 ;   RDO:0008392 ;   RDO:0015716
Xrefs: GARD:6475 ;   ORDO:272
Definition Sources: https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy

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