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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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17564970 PMID:17576681 PMID:19177532 More... NCBI chr 2:123,822,042...123,847,808
Ensembl chr 2:123,816,614...123,857,971 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Diseases of the Aged 1465
      macular degeneration 156
        Macular Dystrophy with Central Cone Involvement 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            eye disease 3475
              retinal disease 1215
                retinal degeneration 846
                  fundus dystrophy 699
                    retinitis pigmentosa 600
                      Macular Dystrophy with Central Cone Involvement 1
paths to the root