otospondylomegaepiphyseal dysplasia, autosomal recessive

Summary

DOID:0080026 - otospondylomegaepiphyseal dysplasia, autosomal recessive

Disease Ontology 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.

Synonyms: NANCE-INSLEY SYNDROME, NANCE-SWEENEY CHONDRODYSPLASIA, CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS, OSMEDB

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: col11a2, col2a1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008975 - otospondylomegaepiphyseal dysplasia

MONDO:0008975 - otospondylomegaepiphyseal dysplasia

MIM:

MIM:215150 - OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; OSMEDB

MIM:215150 - OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; OSMEDB

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view

Parent(s): autosomal recessive disease (is_a), osteochondrodysplasia (is_a)