Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Community Projects Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:vitreous disease
go back to main search page
Accession:DOID:9720 term browser browse the term
Definition:An eye and adnexa disease that is located in the vitreous of the eye. (DO)
Synonyms:exact_synonym: vitreous body disease
 xref: EFO:0008624;   ICD10CM:H43.39;   ICD9CM:379.24


show annotations for term's descendants           Sort by:
neovascular inflammatory vitreoretinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO protein:increased expression:vitreous humor RGD PMID:16364297 RGD:8695978 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:vitreous humor (human) RGD PMID:19081814 RGD:5685692 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:decreased expression:photoreceptor outer segment layer: RGD PMID:18405896 RGD:8655629 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Capn5 calpain 5 ISO ClinVar Annotator: match by term: Proliferative vitreoretinopathy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2234842 PMID:23055945 PMID:24381307 PMID:25741868 PMID:25994508 More... NCBI chr 1:152,416,252...152,472,923
Ensembl chr 1:152,416,252...152,472,923 		JBrowse link
G Cat catalase ISO protein:decreased activity:vitreous humor: RGD PMID:10450379 RGD:9068932 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:23974951 RGD:8661680 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO associated with Retinal Detachment RGD PMID:9613386 RGD:8655597 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:vitreous humor: RGD PMID:10967068 RGD:8548540 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO associated with Retinal Detachment;protein:increased expression:vitreous humor RGD PMID:10413701 RGD:8547581 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Igfbp6 insulin-like growth factor binding protein 6 severity ISO protein:increased expression:vitreous,serum: RGD PMID:23808406 RGD:10411880 NCBI chr 7:133,276,309...133,280,944
Ensembl chr 7:133,276,234...133,280,966 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:vitreous: RGD PMID:1800167 RGD:7829748 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Kng1 kininogen 1 severity ISO protein:increased expression:vitreous,serum: RGD PMID:23808406 RGD:10411880 NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555 		JBrowse link
G Kng2 kininogen 2 severity ISO protein:increased expression:vitreous,serum: RGD PMID:23808406 RGD:10411880 NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO DNA:mutations: :p.R570Q, p.R752G, p.E1367K (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18263894 PMID:15346351 RGD:1599835 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Lta lymphotoxin alpha ISO DNA:SNP, haplotype:CDS:rs2229094 (human) RGD PMID:20663564 RGD:8548782 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:plasma (human) RGD PMID:18939350 RGD:36174007 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
persistent hyperplastic primary vitreous term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO RGD PMID:16620915 RGD:8552304 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Mip major intrinsic protein of lens fiber ISO ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous ClinVar PMID:24120416 PMID:25741868 PMID:26694549 PMID:28492532 PMID:29770612 NCBI chr 7:643,502...653,121
Ensembl chr 7:647,315...654,400 		JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous ClinVar PMID:25741868 NCBI chr  X:5,796,487...5,820,934
Ensembl chr  X:5,796,487...5,820,934 		JBrowse link
G Pax6 paired box 6 ISO DNA:snp:cds:pN64K (mouse) RGD PMID:19345209 RGD:8551891 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh7 atonal bHLH transcription factor 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:9677055 PMID:11527934 PMID:21441919 PMID:21474777 PMID:22068589 More... NCBI chr20:25,530,826...25,531,275
Ensembl chr20:25,530,826...25,531,275 		JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive ClinVar PMID:25250762 NCBI chr 4:50,313,768...50,389,246
Ensembl chr 4:50,313,772...50,389,246 		JBrowse link
Stickler syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stickler syndrome type 2 | ClinVar Annotator: match by term: Stickler syndrome, beaded vitreous type		 CTD
OMIM
ClinVar		 PMID:8872475 PMID:9129742 PMID:9529347 PMID:9536098 PMID:9792885 More... NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    sensory system disease 6884
      eye disease 3446
        vitreous disease 23
          Vitreous Hemorrhage 0
          neovascular inflammatory vitreoretinopathy 16
          persistent hyperplastic primary vitreous + 6
          vitreous abscess 0
          vitreous detachment + 1
          vitreous prolapse 0
          vitreous syneresis 0
Path 2
Term Annotations click to browse term
  disease 21122
    Pathological Conditions, Signs and Symptoms 13262
      Signs and Symptoms 10746
        Neurologic Manifestations 9984
          sensory system disease 6884
            eye disease 3446
              eyelid disease 97
                vitreous disease 23
                  Vitreous Hemorrhage 0
                  neovascular inflammatory vitreoretinopathy 16
                  persistent hyperplastic primary vitreous + 6
                  vitreous abscess 0
                  vitreous detachment + 1
                  vitreous prolapse 0
                  vitreous syneresis 0
paths to the root