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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


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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 IAGP ClinVar Annotator: match by term: Stargardt disease 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148 		JBrowse link
G ELOVL4 ELOVL fatty acid elongase 4 IAGP
EXP		 ClinVar Annotator: match by term: Stargardt disease 3
ClinVar Annotator: match by term: STARGARDT-LIKE MACULAR DYSTROPHY, AUTOSOMAL DOMINANT
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5048218 PMID:11138005 PMID:15028284 PMID:15557430 PMID:22948568 More... NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO mRNA,protein:increased expression:optic cup: RGD PMID:22199241 RGD:10402074 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35756
    Diseases of the Aged 1465
      macular degeneration 178
        degeneration of macula and posterior pole 93
          age related macular degeneration 63
            Stargardt disease 29
              Stargardt Disease 3 3
Path 2
Term Annotations click to browse term
  disease 35756
    Pathological Conditions, Signs and Symptoms 21495
      Signs and Symptoms 16346
        Neurologic Manifestations 15414
          sensory system disease 9761
            eye disease 4965
              retinal disease 2042
                retinal degeneration 1187
                  macular degeneration 178
                    degeneration of macula and posterior pole 93
                      age related macular degeneration 63
                        Stargardt disease 29
                          Stargardt Disease 3 3
paths to the root