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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 ISO ClinVar Annotator: match by term: Stargardt disease 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: STARGARDT-LIKE MACULAR DYSTROPHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Stargardt disease 3		 OMIM
CTD
ClinVar		 PMID:5048218 PMID:11138005 PMID:15028284 PMID:15557430 PMID:22948568 More... NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO mRNA,protein:increased expression:optic cup: RGD PMID:22199241 RGD:10402074 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Diseases of the Aged 1468
      macular degeneration 156
        degeneration of macula and posterior pole 73
          age related macular degeneration 43
            Stargardt disease 23
              Stargardt Disease 3 3
Path 2
Term Annotations click to browse term
  disease 21126
    Pathological Conditions, Signs and Symptoms 13335
      Signs and Symptoms 10811
        Neurologic Manifestations 10043
          sensory system disease 6948
            eye disease 3480
              retinal disease 1215
                retinal degeneration 846
                  macular degeneration 156
                    degeneration of macula and posterior pole 73
                      age related macular degeneration 43
                        Stargardt disease 23
                          Stargardt Disease 3 3
paths to the root