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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
For additional species annotation, visit the Alliance of Genome Resources.


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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:17564970 PMID:19177532 PMID:19201763 PMID:21990111 PMID:25227500 PMID:25439737 PMID:25741868 PMID:26681805 PMID:28224992 PMID:28492532 PMID:28586915 PMID:31597037 PMID:33546218 NCBI chr 2:127,706,618...127,784,129
Ensembl chr 2:127,699,761...127,781,003
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Diseases of the Aged 1280
      macular degeneration 145
        Macular Dystrophy with Central Cone Involvement 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        sensory system disease 5332
          eye disease 2643
            retinal disease 805
              retinal degeneration 478
                fundus dystrophy 344
                  retinitis pigmentosa 279
                    Macular Dystrophy with Central Cone Involvement 1
paths to the root