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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


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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:153700 | OMIM:153840 | OMIM:608161 | OMIM:616151 | OMIM:616152		 CTD
MouseDO		 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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:153700 | OMIM:153840 | OMIM:608161 | OMIM:616151 | OMIM:616152		 CTD
MouseDO		 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:25741868 PMID:28492532 PMID:32531846 PMID:15370544 PMID:12566026 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 Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 1 ClinVar PMID:10854112 PMID:17065513 PMID:18289629 PMID:21436265 PMID:23213274 More... NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722 		JBrowse link
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:2162627 PMID:9536098 PMID:9662395 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:2133066 PMID:10788642 PMID:13129869 PMID:14615048 PMID:18985398 More... 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 Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 3 ClinVar 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: 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:16199547 PMID:23993198 PMID:25741868 PMID:28492532 PMID:28644393 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 Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Macular dystrophy, retinal, 5 ClinVar PMID:9536098 PMID:17576681 PMID:23591405 PMID:24033266 PMID:25741868 More... NCBI chr16:12,843,436...12,863,321
Ensembl chr16:12,843,437...12,863,396 		JBrowse link
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 18976
    Diseases of the Aged 1474
      macular degeneration 161
        vitelliform macular dystrophy 8
          Vitelliform Macular Dystrophy 1 3
          Vitelliform Macular Dystrophy 2 5
          Vitelliform Macular Dystrophy 3 2
          Vitelliform Macular Dystrophy 4 1
          Vitelliform Macular Dystrophy 5 2
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              eye degenerative disease 856
                retinal degeneration 854
                  macular degeneration 161
                    vitelliform macular dystrophy 8
                      Vitelliform Macular Dystrophy 1 3
                      Vitelliform Macular Dystrophy 2 5
                      Vitelliform Macular Dystrophy 3 2
                      Vitelliform Macular Dystrophy 4 1
                      Vitelliform Macular Dystrophy 5 2
paths to the root