WormBase Tree Display for DO_term: DOID:0050559
expand all nodes | collapse all nodes | view schema
| DOID:0050559 | Name | Fukuyama congenital muscular dystrophy | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | 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. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Parent | Is_a | DOID:0111229 | |||
| DB_info | Database | OMIM | disease | 253800 | |
| Attribute_of | Gene_by_orthology | WBGene00000961 | |||
| WBGene00011554 | |||||
| WBGene00018943 | |||||
| WBGene00020307 | |||||
| WBGene00020924 | |||||
| WBGene00020927 | |||||
| WBGene00021249 |
