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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:Macular Dystrophy with Central Cone Involvement
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Accession:DOID:9004170 term browser browse the term
Synonyms:exact_synonym: CCMD
 primary_id: OMIM:616170


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Macular Dystrophy with Central Cone Involvement term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MFSD8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Macular dystrophy with central cone involvement OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17564970 PMID:17576681 PMID:19177532 More... NCBI chr 8:96,925,063...96,972,390
Ensembl chr 8:96,925,081...96,972,383 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Diseases of the Aged 1232
      macular degeneration 151
        Macular Dystrophy with Central Cone Involvement 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        Neurologic Manifestations 9418
          sensory system disease 6507
            eye disease 3325
              retinal disease 1172
                retinal degeneration 822
                  fundus dystrophy 693
                    retinitis pigmentosa 598
                      Macular Dystrophy with Central Cone Involvement 1
paths to the root