ZFIN Human Disease: otospondylomegaepiphyseal dysplasia, autosomal recessive

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:	OMIM:215150
Ontology:	Human Disease ( DOID:0080026 )

Relationships

is a type of:	autosomal recessive disease osteochondrodysplasia autosomal recessive disease osteochondrodysplasia Show first 5 Terms

OTHER otospondylomegaepiphyseal dysplasia, autosomal recessive PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COL11A2	col11a2	Otospondylomegaepiphyseal dysplasia, autosomal recessive	215150

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None