Fukuyama Congenital Muscular Dystrophy
Disease ID: disease_node_17415
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| Dbxref | GARD:6475, MIM:253800, ORDO:272 |
|---|---|
| Subclassof | DOID_0111229 |
| Data Source | DOID |
| Doid Label | Fukuyama congenital muscular dystrophy |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17415 |
| Doid Id | DOID_0050559 |
| Disease Has Basis In | HP_0001197 |
| Label | Fukuyama Congenital Muscular Dystrophy |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy-Dystroglycanopathy Type A(ID:disease_node_17406) (Disease)