|Dataset||OMIM Gene-Disease Associations|
|Category||disease or phenotype associations|
|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)|
|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.
|FKBP14||FK506 binding protein 14, 22 kDa|