Otospondylomegaepiphyseal dysplasia Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://www.omim.org/entry/215150
Similar Terms
Downloads & Tools

Genes

1 genes associated with the Otospondylomegaepiphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
COL11A2 collagen, type XI, alpha 2