otospondylomegaepiphyseal dysplasia (Q7109017)

From Wikidata
Jump to: navigation, search
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.
  • CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS
  • NANCE-INSLEY SYNDROME
  • NANCE-SWEENEY CHONDRODYSPLASIA
edit
Language Label Description Also known as
English
otospondylomegaepiphyseal dysplasia
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.
  • CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS
  • NANCE-INSLEY SYNDROME
  • NANCE-SWEENEY CHONDRODYSPLASIA

Statements

Identifiers

 
edit
    edit
      edit
        edit
          edit
            edit
              edit