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otospondylomegaepiphyseal dysplasia, autosomal recessive (DOID:0080026)
Alliance: disease page
Synonyms: CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS; NANCE-INSLEY SYNDROME; NANCE-SWEENEY CHONDRODYSPLASIA; OSMEDB
Alt IDs: OMIM:215150
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
02/20/2024
MGI 6.23
The Jackson Laboratory