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Metadata
DOID DOID:0080026
Name otospondylomegaepiphyseal dysplasia
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.
http://en.wikipedia.org/wiki/Otospondylomegaepiphyseal_dysplasia, http://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia, http://www.medic8.com/genetics/otospondylomegaepiphyseal-dysplasia.htm, http://www.ncbi.nlm.nih.gov/omim/215150
Synonyms

CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS [EXACT]

NANCE-INSLEY SYNDROME [EXACT]

NANCE-SWEENEY CHONDRODYSPLASIA [EXACT]

Xrefs

OMIM:215150

Relationships

is_a osteochondrodysplasia

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