otospondylomegaepiphyseal dysplasia, autosomal recessive

Term ID

DOID:0080026

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. (4)

References

• MIM:215150

Ontology

Human Disease   ( DOID:0080026 )