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Disease Ontology Browser
otospondylomegaepiphyseal dysplasia (DOID:0080026)
Synonyms: CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS; NANCE-INSLEY SYNDROME; NANCE-SWEENEY CHONDRODYSPLASIA
Alt IDs: OMIM:215150
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/14/2017
MGI 6.08
The Jackson Laboratory