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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:vitelliform macular dystrophy
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Accession:DOID:0050661 term browser browse the term
Definition:A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss. (DO)
Synonyms:exact_synonym: vitelliform dystrophy;   vitelliform macular dystrophies
 primary_id: MESH:D057826
 xref: GARD:10120;   NCI:C118788;   OMIM:PS153840;   ORDO:1243;   ORDO:99000
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
vitelliform macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Vitelliform dystrophy
CTD
ClinVar
PMID:10798642 PMID:17110374 PMID:21109774 PMID:21273940 PMID:21330666 More... NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:22893068 RGD:7394745 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722
JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382
JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.Y141C(human)
ClinVar Annotator: match by term: Vitelliform dystrophy | ClinVar Annotator: match by term: Vitelliform macular dystrophy
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds:112del(human)
DNA:polymorphisms,haplotype:cds:p.E304Q,G338D(human)
ClinVar
CTD
RGD
PMID:1427912 PMID:4142662 PMID:7493155 PMID:7519821 PMID:7862413 More... RGD:8553221, RGD:8554859, RGD:8553239 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
JBrowse link
Vitelliform Macular Dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 1 ClinVar PMID:24033266 PMID:24130771 PMID:25077172 PMID:26467025 PMID:28492532 More... NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
Vitelliform Macular Dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 OMIM
ClinVar
PMID:838599 PMID:2133066 PMID:9536098 PMID:9662395 PMID:9700209 More... NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:14615048 PMID:25741868 PMID:28492532 NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:25741868 NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722
JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Best vitelliform macular dystrophy, multifocal | ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:1427912 PMID:4142662 PMID:7493155 PMID:7519821 PMID:7862413 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
JBrowse link
Vitelliform Macular Dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Adult onset vitelliform dystrophy | ClinVar Annotator: match by term: FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION | ClinVar Annotator: match by term: Macular dystrophy, vitelliform, adult-onset | ClinVar Annotator: match by term: Vitelliform macular dystrophy 3 OMIM
ClinVar
PMID:1427912 PMID:4142662 PMID:7519821 PMID:7862413 PMID:8111389 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
JBrowse link
Vitelliform Macular Dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 4 OMIM
ClinVar
PMID:23993198 PMID:25741868 PMID:28492532 PMID:28644393 PMID:30688845 More... NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722
JBrowse link
Vitelliform Macular Dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 5 OMIM
ClinVar
PMID:20673862 PMID:24876279 PMID:25085631 PMID:25741868 PMID:25999674 More... NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    Diseases of the Aged 1324
      macular degeneration 149
        vitelliform macular dystrophy 7
          Vitelliform Macular Dystrophy 1 1
          Vitelliform Macular Dystrophy 2 5
          Vitelliform Macular Dystrophy 3 1
          Vitelliform Macular Dystrophy 4 1
          Vitelliform Macular Dystrophy 5 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13207
        sensory system disease 6435
          eye disease 2961
            eye degenerative disease 536
              retinal degeneration 534
                macular degeneration 149
                  vitelliform macular dystrophy 7
                    Vitelliform Macular Dystrophy 1 1
                    Vitelliform Macular Dystrophy 2 5
                    Vitelliform Macular Dystrophy 3 1
                    Vitelliform Macular Dystrophy 4 1
                    Vitelliform Macular Dystrophy 5 1
paths to the root