WormBase Tree Display for DO_term: DOID:0112379
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| DOID:0112379 | Name | muscular dystrophy-dystroglycanopathy type B4 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2. | ||||
| Synonym | Exact | MDDGB4 | |||
| congenital muscular dystrophy FKTN-related | |||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0112375 | |||||
| DB_info | Database | OMIM | disease | 613152 | |
| Attribute_of | Gene_by_orthology | WBGene00011554 | |||
| WBGene00020307 | |||||
| WBGene00020924 | |||||
| WBGene00020927 | |||||
| WBGene00021249 |
