Term Name:	otospondylomegaepiphyseal dysplasia, autosomal recessive
Synonyms:	CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS, NANCE-INSLEY SYNDROME, NANCE-SWEENEY CHONDRODYSPLASIA, OSMEDB
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.
Ontology:	Human Disease [DOID:0080026]   ( DOID:0080026 )