|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. (Human Disease Ontology, DOID_0080026)|
|Downloads & Tools|
1 genes associated with the Otospondylomegaepiphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|COL11A2||collagen, type XI, alpha 2|