| Dataset | OMIM Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion. (Orphanet Rare Disease Ontology, Orphanet_300179) |
| External Link | http://www.omim.org/entry/614557 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| FKBP14 | FK506 binding protein 14, 22 kDa |
