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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:red-green color blindness
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Accession:DOID:13909 term browser browse the term
Synonyms:exact_synonym: CBD;   DCB;   Partial Colorblindness, Deutan Series;   deutan colorblindness;   deutan defect;   deuteranopia;   reduced red-green discrimination
 primary_id: OMIM:303800
 xref: EFO:0005581;   ICD9CM:368.52;   ORDO:319698
For additional species annotation, visit the Alliance of Genome Resources.


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red-green color blindness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Deutan defect | ClinVar Annotator: match by term: Deuteranopia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:12051694 More... NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      Vision Disorders 195
        blindness 120
          color blindness 12
            red-green color blindness 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              Vision Disorders 195
                blindness 120
                  color blindness 12
                    red-green color blindness 1
paths to the root