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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:age related macular degeneration 7
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Accession:DOID:0110019 term browser browse the term
Definition:An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26. (DO)
Synonyms:exact_synonym: ARMD7
 related_synonym: MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE;   MACULAR DEGENERATION, AGE-RELATED, WET TYPE;   MACULAR DEGENERATION, AGE-RELATED, WET TYPE, SUSCEPTIBILITY TO;   age-related macular degeneration, neovascular type, susceptibility;   susceptibility to neovascular type of age-related macular degeneration
 primary_id: MESH:C565718
 alt_id: OMIM:610149


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age related macular degeneration 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO DNA:SNPs, haplotype: :multiple RGD PMID:19899988 RGD:7401252 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Cfb complement factor B no_association ISO DNA:missense mutations:cds:p.L9H, p.R32L (rs4151667, rs641153) (human) RGD PMID:19899988 RGD:7401252 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Age related macular degeneration 7 ClinVar NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility
severity		 ISO DNA:polymorphisms:multiple (human)
DNA:snp:intron:g.IVS1+9824G>A (rs932275) (human)
DNA:snps:promoter, exons:g.-497C>T, g.+108G>T/C, g.5230C>T (rs2672598, rs2293870, rs1049331) (human)
DNA:snp:promoter:g.-497C>T (rs2672598) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 7 | ClinVar Annotator: match by term: Susceptibility to neovascular type of age-related macular degeneration		 OMIM
CTD
ClinVar
RGD		 PMID:16199547 PMID:17053108 PMID:17053109 PMID:17568988 PMID:18511946 More... RGD:7387295, RGD:7394713, RGD:7394719, RGD:7394721, RGD:7394722 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Macular degeneration, age-related, neovascular type ClinVar NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Diseases of the Aged 1474
      macular degeneration 161
        degeneration of macula and posterior pole 78
          age related macular degeneration 48
            age related macular degeneration 7 5
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              retinal disease 1223
                retinal degeneration 853
                  macular degeneration 161
                    degeneration of macula and posterior pole 78
                      age related macular degeneration 48
                        age related macular degeneration 7 5
paths to the root