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retinal telangiectasia - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:retinal telangiectasia
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Accession:DOID:7736 term browser browse the term
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.
Synonyms:exact_synonym: retinal telangiectases;   retinal telangiectasis
 primary_id: MESH:D058456
 alt_id: MIM:300216
 xref: ICD9CM:362.15
For additional species annotation, visit the Alliance of Genome Resources.

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retinal telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs cell polarity complex component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11389483 NCBI chr13:53,352,932...53,540,019
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22267198 NCBI chr10:54,212,537...54,234,146
Ensembl chr10:53,714,644...53,735,298 		JBrowse link
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Retinal telangiectasis ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 1:152,692,507...152,701,372
Ensembl chr 1:143,280,065...143,285,724 		JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression,increased phosphorylation:eye: RGD PMID:23221067 RGD:8549759 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Retinal telangiectasis ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 1:152,815,301...152,835,005
Ensembl chr 1:143,401,396...143,422,091 		JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Retinal telangiectasis ClinVar PMID:25741868 PMID:26908610 PMID:28492532 PMID:31494449 NCBI chr15:37,430,453...37,477,920
Ensembl chr15:33,319,586...33,365,302 		JBrowse link
G Vegfa vascular endothelial growth factor A severity ISO protein:increased expression:eye: RGD PMID:23221067 RGD:8549759 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coats plus syndrome		 CTD
ClinVar		 PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr10:54,212,537...54,234,146
Ensembl chr10:53,714,644...53,735,298 		JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:256,336,916...256,371,143
Ensembl chr 1:246,395,613...246,429,531 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:2411576 PMID:3057194 PMID:9536098 PMID:16199547 PMID:16943371 More... NCBI chr10:54,212,537...54,234,146
Ensembl chr10:53,714,644...53,735,298 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr10:54,189,157...54,210,685
Ensembl chr10:53,691,626...53,708,420 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 PMID:28934486 PMID:32135276 NCBI chr 1:256,336,916...256,371,143
Ensembl chr 1:246,395,613...246,429,531 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24686846 PMID:25741868 PMID:26467025 More... NCBI chr 4:55,170,821...55,228,588
Ensembl chr 4:54,205,332...54,263,042 		JBrowse link
Coats disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Coats disease ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 1:152,692,507...152,701,372
Ensembl chr 1:143,280,065...143,285,724 		JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:26908610 NCBI chr  X:8,379,569...8,404,019
Ensembl chr  X:5,796,487...5,820,934 		JBrowse link
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:25741868 PMID:30459466 NCBI chr18:30,354,910...30,370,485
Ensembl chr18:30,103,728...30,119,307 		JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Coats disease ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 1:152,815,301...152,835,005
Ensembl chr 1:143,401,396...143,422,091 		JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Coats disease | ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:16199547 PMID:25741868 PMID:26908610 PMID:28492532 PMID:31494449 More... NCBI chr15:37,430,453...37,477,920
Ensembl chr15:33,319,586...33,365,302 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:7987331 PMID:9380676 PMID:10967073 PMID:25741868 PMID:28492532 More... NCBI chr 4:150,653,205...150,658,367
Ensembl chr 4:148,980,611...148,985,773 		JBrowse link
G Rnf14 ring finger protein 14 ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:25741868 PMID:30459466 NCBI chr18:30,381,072...30,406,859
Ensembl chr18:30,131,691...30,155,685 		JBrowse link
Idiopathic Juxtafoveal Retinal Telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs cell polarity complex component 1 IAGP RGD PMID:25878282 RGD:13451131 NCBI chr13:53,352,932...53,540,019
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Crb1m1 crumbs 1, cell polarity complex component, mutant 1 IAGP RGD PMID:25878282 RGD:13451131
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    sensory system disease 7381
      eye disease 3728
        retinal disease 1459
          retinal vascular disease 216
            retinal telangiectasia 16
              Coats disease + 11
              Idiopathic Juxtafoveal Retinal Telangiectasia 3
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        Neurologic Manifestations 10464
          sensory system disease 7381
            eye disease 3728
              retinal disease 1459
                retinal vascular disease 216
                  retinal telangiectasia 16
                    Coats disease + 11
                    Idiopathic Juxtafoveal Retinal Telangiectasia 3
paths to the root