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DO Term : otospondylomegaepiphyseal dysplasia, autosomal recessive [DOID:0080026] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • OMIM:215150,
  • 215150,
  • NANCE-SWEENEY CHONDRODYSPLASIA,
  • NANCE-INSLEY SYNDROME,
  • CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS,
  • OSMEDB
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents