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Summary Literature (0)
DOID:0080026 - otospondylomegaepiphyseal dysplasia, autosomal recessive


Disease Ontology Definition:An osteochondrodysplasia that results from mutations autosomal recessive inheritance of 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.

Synonyms: CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS, NANCE-INSLEY SYNDROME, NANCE-SWEENEY CHONDRODYSPLASIA, OSMEDB

In OMIM:
OMIM:215150 - OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; OSMEDB

In Mondo Disease Ontology:
MONDO:0008975 - otospondylomegaepiphyseal dysplasia

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : col2a1, col11a2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive disease (is_a), osteochondrodysplasia (is_a)