otospondylomegaepiphyseal dysplasia, autosomal dominant

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Summary

Literature (0)

DOID:0080677 - otospondylomegaepiphyseal dysplasia, autosomal dominant

Disease Ontology Definition:An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: col11a2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), osteochondrodysplasia (is_a)