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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

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Disease Browser
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Vitreoretinopathy, Proliferative (D018630)
..Starting node ..Exudative Vitreoretinopathy, Familial, X-Linked Recessive (C564428)
Child Nodes:
Sister Nodes:
..Exudative vitreoretinopathy 1 (C536382)
..EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
..Exudative Vitreoretinopathy 3 (C565297)
..Exudative Vitreoretinopathy, Familial, X-Linked Recessive (C564428)
..VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY (OMIM:193235)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4044

Name:

Exudative Vitreoretinopathy, Familial, X-Linked Recessive

Definition:

Alternative IDs:

ParentIDs:

MESH:D018630|MESH:D040181

TreeNumbers:

C11.768.890/C564428 |C11.975/C564428 |C16.320.322/C564428

Synonyms:

Exudative Vitreoretinopathy, Familial, 2 |FEVR, X-Linked

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C564428
MeSH: C564428
OMIM: 305390;

Genes: NDP;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0000490	Deeply set eye
3	HP:0030490	Exudative vitreoretinopathy
4	HP:0001493	Falciform retinal fold
5	HP:0007989	Intraretinal exudate
6	HP:0000568	Microphthalmia	HP:0040283
7	HP:0000639	Nystagmus	HP:0040283
8	HP:0007710	Peripheral vitreous opacities
9	HP:0007663	Reduced visual acuity
10	HP:0000541	Retinal detachment
11	HP:0011530	Retinal hole	HP:0040283
12	HP:0030666	Retinal neovascularization	HP:0040283
13	HP:0012841	Retinal vascular tortuosity	HP:0040283
14	HP:0011532	Subretinal exudate

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000266.3(NDP):c.370C>T (p.Leu124Phe)	4693	NDP	Pathogenic	28933684	RCV000011430;	N	MedGen:C1844579,OMIM:305390	X	43809077	43809077	NM_000266.3:c.370C>T	NP_000257.1:p.Leu124Phe	NC_000023.10:g.43809077G>A	OMIM Allelic Variant:300658.0006	C1844579 305390 Familial exudative vitreoretinopathy, X-linked
NM_000266.3(NDP):c.362G>T (p.Arg121Leu)	4693	NDP	Pathogenic	137852220	RCV000011441;	N	MedGen:C1844579,OMIM:305390	X	43809085	43809085	NM_000266.3:c.362G>T	NP_000257.1:p.Arg121Leu	NC_000023.10:g.43809085C>A	OMIM Allelic Variant:300658.0017	C1844579 305390 Familial exudative vitreoretinopathy, X-linked
NM_000266.3(NDP):c.361C>T (p.Arg121Trp)	4693	NDP	Pathogenic	104894878	RCV000011434;	N	MedGen:C1844579,OMIM:305390	X	43809086	43809086	NM_000266.3:c.361C>T	NP_000257.1:p.Arg121Trp	NC_000023.10:g.43809086G>A	OMIM Allelic Variant:300658.0010	C1844579 305390 Familial exudative vitreoretinopathy, X-linked
NM_000266.3(NDP):c.328T>G (p.Cys110Gly)	4693	NDP	Pathogenic	104894876	RCV000011440;	N	MedGen:C1844579,OMIM:305390	X	43809119	43809119	NM_000266.3:c.328T>G	NP_000257.1:p.Cys110Gly	NC_000023.10:g.43809119A>C	OMIM Allelic Variant:300658.0016	C1844579 305390 Familial exudative vitreoretinopathy, X-linked
NM_000266.3(NDP):c.220C>T (p.Arg74Cys)	4693	NDP	Pathogenic	727504031	RCV000153538; RCV000153537;	N	MedGen:C0266526,OMIM:310600,ORPHA:649,SNOMED CT:15228007; MedGen:C1844579,OMIM:305390	X	43809227	43809227	NM_000266.3:c.220C>T	NP_000257.1:p.Arg74Cys	NC_000023.10:g.43809227G>A	HGMD:CM920501	C0266526 310600 Atrophia bulborum hereditaria; C1844579 305390 Familial exudative vitreoretinopathy, X-linked