GenTIGSA Gene Database on Rare Genetic Disorders
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Otospondylomegaepiphyseal Dysplasia  
Disease Aliases (17)

Chondrodystrophy with sensorineural deafness

Insley-astley syndrome

Nance-insley syndrome

Nance-sweeney chondrodysplasia

Nance sweeney chondrodysplasia

Osmed

Osmed syndrome

Osmedb

Oto-spondylo-mega-epiphyseal dysplasia

Otospondylomegaepiphyseal dysplasia

Weissenbacher-zweymuller syndrome, formerly

Wzs, formerly

Weissenbacher-zweymuller syndrome

Otospondylmegaepiphyseal dysplasia

Otospondylomegaepiphyseal dysplasia, autosomal recessive

Otospondylomegaepiphyseal dysplasia, autosomal recessive; osmedb

Otospondylomegaepiphyseal dysplasia; osmed

Associated Genes (1)
 

NCBI-RefSeq:  COL11A2   (Collagen type XI alpha 2 chain)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Otospondylomegaepiphyseal dysplasia OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations