RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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_synonym:
FCMD; Fukuyama CMD; Fukuyama Muscular Dystrophy; Fukuyama Syndrome; Fukuyama Type Congenital Muscular Dystrophy; Fukuyama type cerebromuscular dystrophy; MDDGA4; Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related; Walker-Warburg syndrome, FKTN-related; muscular dystrophy due to defective glycosylation of dystroglycan 4A; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A4
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4