Details of Disease | DrugMAP

General Information of Disease (ID: DISQNNMA)

Disease Name	Exudative vitreoretinopathy 2, X-linked
Synonyms	exudative vitreoretinopathy, familial, 2; EVR2; Fevr, X-linked; Evrx; exudative vitreoretinopathy 2, X-linked, X-linked recessive, X-linked dominant; exudative vitreoretinopathy caused by mutation in NDP; NDP exudative vitreoretinopathy; exudative vitreoretinopathy 2, X-linked
Definition	Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene.
Disease Hierarchy	DIS3PN9X: X-linked disease DISWN0TG: Exudative vitreoretinopathy DISQNNMA: Exudative vitreoretinopathy 2, X-linked
Disease Identifiers	MONDO ID MONDO_0010588 MESH ID C564428 UMLS CUI C1844579 OMIM ID 305390 MedGen ID 337030

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
NDP	OTGDJ4US	Definitive	X-linked	[1]
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References

1	Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy. Hum Mutat. 1997;9(5):396-401. doi: 10.1002/(SICI)1098-1004(1997)9:5<396::AID-HUMU3>3.0.CO;2-2.