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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:Stargardt Disease 3
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Accession:DOID:9000290 term browser browse the term
Synonyms:exact_synonym: Macular dystrophy with flecks, type 3;   Macular dystrophy, autosomal dominant, chromosome 6-linked,;   STGD3;   Stargardt-Like Macular Dystrophy, Autosomal Dominant
 broad_synonym: STARGARDT DISEASE, DOMINANT
 primary_id: MESH:C535805
 alt_id: OMIM:600110;   RDO:0001114
For additional species annotation, visit the Alliance of Genome Resources.


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Stargardt Disease 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Stargardt Disease 3 ClinVar PMID:25741868 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by OMIM:600110
ClinVar Annotator: match by term: Stargardt Disease 3
OMIM
ClinVar
PMID:11138005 PMID:15028284 PMID:15557430 PMID:22948568 PMID:23509295 PMID:24833735 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr 8:91,310,690...91,338,625
Ensembl chr 8:91,310,630...91,338,843
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO mRNA,protein:increased expression:optic cup: RGD PMID:22199241 RGD:10402074 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    Diseases of the Aged 1243
      macular degeneration 142
        degeneration of macula and posterior pole 68
          age related macular degeneration 39
            Stargardt disease 16
              Stargardt Disease 3 3
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        central nervous system disease 9099
          neurodegenerative disease 3220
            eye degenerative disease 467
              retinal degeneration 465
                macular degeneration 142
                  degeneration of macula and posterior pole 68
                    age related macular degeneration 39
                      Stargardt disease 16
                        Stargardt Disease 3 3
paths to the root