MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: genetic central nervous system and retinal vascular disease (MONDO:0015953)
Parent Node: retinal vascular disease (MONDO:0002311)
Parent Node: vitreoretinal degeneration (MONDO:0020248)
..Starting node ..exudative vitreoretinopathy ()
Child Nodes:
........EVR3 ()
........exudative vitreoretinopathy 1 ()
........exudative vitreoretinopathy 2, X-linked ()
........exudative vitreoretinopathy 4 ()
........exudative vitreoretinopathy 5 ()
........exudative vitreoretinopathy 6 ()
........exudative vitreoretinopathy 7 ()
Sister Nodes:
..autosomal dominant neovascular inflammatory vitreoretinopathy ()
..autosomal dominant vitreoretinochoroidopathy ()
..enhanced S-cone syndrome ()
..exudative vitreoretinopathy ()
..Knobloch syndrome ()
..snowflake vitreoretinal degeneration ()
..Stickler syndrome ()
..Wagner disease ()
..X-linked retinoschisis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19516
Name:	exudative vitreoretinopathy
Definition:	Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Criswick-Schepens syndrome; exudative vitreoretinopathy, familial; familial exudative vitreoretinopathy; FEVR
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal