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DOID:0080026 - otospondylomegaepiphyseal dysplasia
Disease Ontology Definition: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.
Synonyms: CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS, NANCE-INSLEY SYNDROME, NANCE-SWEENEY CHONDRODYSPLASIA,
Echinobase Genes :
MIM:215150 - otospondylomegaepiphyseal dysplasia; osmed |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
osteochondrodysplasia (is_a)