OBO ID: DOID:0080026
Term Name: otospondylomegaepiphyseal dysplasia, autosomal recessive Search Ontology:
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:
Ontology: Human Disease   (DOID:0080026)
OTHER otospondylomegaepiphyseal dysplasia, autosomal recessive PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL11A2 Otospondylomegaepiphyseal dysplasia, autosomal recessive 215150
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None