otospondylomegaepiphyseal dysplasia Gene Set

Dataset OMIM Gene-Disease 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
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Genes

2 genes associated with the otospondylomegaepiphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1