Details of Disease | DrugMAP

General Information of Disease (ID: DISGSFBV)

Disease Name	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DISE1F82: Bone disease DISGSFBV: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Disease Identifiers	MONDO ID MONDO_0018601 UMLS CUI C5680056 MedGen ID 1801714 Orphanet ID 440354 SNOMED CT ID 1229999001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL11A1	OTB0DRMS	Supportive	Autosomal dominant	[1]
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References

1	A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia. Am J Med Genet A. 2014 Oct;164A(10):2607-12. doi: 10.1002/ajmg.a.36688. Epub 2014 Aug 4.