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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:vitreous disease
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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:xref: ICD10CM:H43.39;   ICD9CM:379.24
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:vitreous humor (human) RGD PMID:19081814 RGD:5685692 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:decreased expression:photoreceptor outer segment layer: RGD PMID:18405896 RGD:8655629 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Capn5 calpain 5 ISO ClinVar Annotator: match by term: Vitreoretinopathy, neovascular inflammatory ClinVar
OMIM
PMID:2234842 PMID:23055945 PMID:29472286 PMID:29610848 PMID:30986125 NCBI chr 1:163,073,134...163,129,736
Ensembl chr 1:163,073,124...163,129,641
JBrowse link
G Cat catalase ISO protein:decreased activity:vitreous humor: RGD PMID:10450379 RGD:9068932 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:23974951 RGD:8661680 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO associated with Retinal Detachment RGD PMID:9613386 RGD:8655597 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:vitreous humor: RGD PMID:10967068 RGD:8548540 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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 7:143,749,385...143,754,018
Ensembl chr 7:143,749,221...143,754,054
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:vitreous: RGD PMID:1800167 RGD:7829748 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kng2 kininogen 2 severity ISO protein:increased expression:vitreous,serum: RGD PMID:23808406 RGD:10411880 NCBI chr11:81,509,185...81,516,759 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 PMID:18263894, PMID:15346351 RGD:1599835 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Lta lymphotoxin alpha ISO DNA:SNP, haplotype:CDS:rs2229094 (human) RGD PMID:20663564 RGD:8548782 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:plasma (human) RGD PMID:18939350 RGD:36174007 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
persistent hyperplastic primary vitreous term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh7 atonal bHLH transcription factor 7 ISS OMIM:221900 | OMIM:611308 MouseDO NCBI chr20:27,082,961...27,083,410
Ensembl chr20:27,082,961...27,083,410
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO RGD PMID:16620915 RGD:8552304 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
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:6,791,090...6,815,586
Ensembl chr  X:6,791,136...6,815,583
Ensembl chr  X:6,791,136...6,815,583
JBrowse link
G Pax6 paired box 6 ISO DNA:snp:cds:pN64K (mouse) RGD PMID:19345209 RGD:8551891 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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 ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9677055 PMID:11527934 PMID:21441919 PMID:21474777 PMID:22068589 PMID:22645276 NCBI chr20:27,082,961...27,083,410
Ensembl chr20:27,082,961...27,083,410
JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive ClinVar PMID:25250762 NCBI chr 4:48,852,823...48,953,240
Ensembl chr 4:48,852,827...48,928,372
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 ClinVar Annotator: match by term: Stickler syndrome type 2
ClinVar Annotator: match by term: Stickler syndrome, type 2
ClinVar Annotator: match by OMIM:604841
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:8872475 PMID:10573014 PMID:10725403 PMID:11668615 PMID:17999364 PMID:20513134 PMID:23967202 PMID:25326635 PMID:25741868 PMID:26467025 PMID:27081569 PMID:28492532 PMID:30245029 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    sensory system disease 5248
      eye disease 2673
        vitreous disease 21
          Vitreous Hemorrhage 0
          neovascular inflammatory vitreoretinopathy 15
          persistent hyperplastic primary vitreous + 5
          vitreous abscess 0
          vitreous detachment + 1
          vitreous syneresis 0
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        sensory system disease 5248
          skin disease 2715
            eyelid disease 92
              vitreous disease 21
                Vitreous Hemorrhage 0
                neovascular inflammatory vitreoretinopathy 15
                persistent hyperplastic primary vitreous + 5
                vitreous abscess 0
                vitreous detachment + 1
                vitreous syneresis 0
paths to the root