Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Genetic Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Ontology Browser
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

paths to the root

Contact Us |  About Us |  License CC BY 4.0 |  Legal Disclaimer |  © Medical College of Wisconsin
NHLBI Logo

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