Details of Disease | DrugMAP

General Information of Disease (ID: DISVAMM4)

Disease Name	Autosomal dominant rhegmatogenous retinal detachment
Synonyms	DRRD; rhegmatogenous retinal detachment, autosomal dominant
Definition	Autosomal dominant form of rhegmatogenous retinal detachment.
Disease Hierarchy	DIS3HIWD: Autosomal dominant disease DISLE27J: Rhegmatogenous retinal detachment DISVAMM4: Autosomal dominant rhegmatogenous retinal detachment
Disease Identifiers	MONDO ID MONDO_0016202 MESH ID C563710 UMLS CUI C1836081 MedGen ID 322821 Orphanet ID 209867 SNOMED CT ID 773727009

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
COL2A1	OT5E59C8	Supportive	Autosomal dominant	[1]
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References

1	A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):663-8. doi: 10.1167/iovs.04-1017.