Details of Disease | DrugMAP

General Information of Disease (ID: DISGKOCR)

Disease Name	Otospondylomegaepiphyseal dysplasia, autosomal recessive
Synonyms	Nance-Sweeney chondrodysplasia; OSMEDB; Weissenbacher-Zweymuller syndrome; Weissenbacher-Zweymuller syndrome, formerly; OSMED; Nance-Insley syndrome; chondrodystrophy with sensorineural deafness; otospondylomegaepiphyseal dysplasia, autosomal recessive
Disease Hierarchy	DISFFHOF: Otospondylomegaepiphyseal dysplasia DISGKOCR: Otospondylomegaepiphyseal dysplasia, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0044206 MESH ID C536140 UMLS CUI C5551484 OMIM ID 215150 MedGen ID 1790497

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL2A1	OT5E59C8	Strong	Autosomal recessive	[1]
COL11A2	OT3BQUBH	Definitive	Autosomal recessive	[2]
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References

1	A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis. J Bone Miner Res. 2003 Sep;18(9):1612-21. doi: 10.1359/jbmr.2003.18.9.1612.
2	Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene. Am J Med Genet A. 2006 Jun 1;140(11):1189-95. doi: 10.1002/ajmg.a.31205.