Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Retinal Diseases (D012164)
Parent Node: Telangiectasis (D013684)
..Starting node ..Retinal Telangiectasis (D058456)
Child Nodes:
........Idiopathic Juxtafoveal Retinal Telangiectasia (C548027)
Sister Nodes:
..Ataxia Telangiectasia (D001260) 6
..CREST Syndrome (D017675)
..Cutis marmorata telangiectatica congenita (C536226)
..Epilepsy telangiectasia (C535497)
..Frenkel Russe syndrome (C535638)
..Glomerulonephritis sparse hair telangiectases (C536825)
..Hypotrichosis-Lymphedema-Telangiectasia Syndrome (C564327)
..Megalencephaly cutis marmorata telangiectatica congenita (C536142)
..Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related (C563358)
..Retinal Telangiectasis (D058456) 1
..REYNOLDS SYNDROME (OMIM:613471)
..Telangiectasia, Generalized Essential (C562998)
..Telangiectasia, Hereditary Benign (C562908)
..Telangiectasia, Hereditary Hemorrhagic (D013683) 4
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9732

Name:

Retinal Telangiectasis

Definition:

A group of rare, idiopathic, congenital retinal vascular anomalies affecting the retinal capillaries. It is characterized by dilation and tortuosity of retinal vessels and formation of multiple aneurysms, with different degrees of leakage and exudates emanating from the blood vessels.

Alternative IDs:

OMIM:300216

ParentIDs:

MESH:D012164|MESH:D013684

TreeNumbers:

C11.768.748 |C14.907.823.502

Synonyms:

Slim Mappings:

Cardiovascular disease|Eye disease

Reference:

MedGen: D058456
MeSH: D058456
OMIM: 300216;

Genes:

Phenotypes

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_012193.3(FZD4):c.1282_1285delGACA (p.Asp428Serfs)	-1	-	Pathogenic	80358295	RCV000210225;	N	Gene:1283,MedGen:C0154832,OMIM:300216,SNOMED CT:25506007; MedGen:C0339539, Orphanet:ORPHA891	11	86662513	86662516	NM_012193.3:c.1282_1285delGACA	NP_036325.2:p.Asp428Serfs		-	C0154832 300216 Exudative retinopathy; C0339539 Familial exudative vitreoretinopathy
NM_012193.3(FZD4):c.313A>G (p.Met105Val)	-1	-	Pathogenic	80358284	RCV000210241;	N	Gene:1283,MedGen:C0154832,OMIM:300216,SNOMED CT:25506007; MedGen:C0339539, Orphanet:ORPHA891	11	86663485	86663485	NM_012193.3:c.313A>G	NP_036325.2:p.Met105Val		-	C0154832 300216 Exudative retinopathy; C0339539 Familial exudative vitreoretinopathy
NM_000266.3(NDP):c.-77A>G	4693	NDP	Uncertain significance	869312820	RCV000210236;	N	Gene:1283,MedGen:C0154832,OMIM:300216,SNOMED CT:25506007; MedGen:C0339539, Orphanet:ORPHA891	X	43817968	43817968	NM_000266.3:c.-77A>G			-	C0154832 300216 Exudative retinopathy; C0339539 Familial exudative vitreoretinopathy
NM_018191.3(RCBTB1):c.1172+1G>A	55213	RCBTB1	Likely pathogenic	869312819	RCV000210240;	N	Gene:1283,MedGen:C0154832,OMIM:300216,SNOMED CT:25506007; MedGen:C0339539, Orphanet:ORPHA891	13	50118872	50118872	NM_018191.3:c.1172+1G>A			-	C0154832 300216 Exudative retinopathy; C0339539 Familial exudative vitreoretinopathy
NM_018191.3(RCBTB1):c.707delA (p.Asn236Thrfs)	55213	RCBTB1	Likely pathogenic	777630688	RCV000210228;	N	Gene:1283,MedGen:C0154832,OMIM:300216,SNOMED CT:25506007	13	50126318	50126318	NM_018191.3:c.707delA	NP_060661.3:p.Asn236Thrfs	NC_000013.10:g.50126318delT	-	C0154832 300216 Exudative retinopathy