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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: 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 OMIM
ClinVar
PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:12051694 More... NCBI chr  X:151,905,096...151,925,322
Ensembl chr  X:151,905,096...151,925,388
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    sensory system disease 6410
      eye disease 2936
        blindness 202
          color blindness 10
            red-green color blindness 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        Neurologic Manifestations 6166
          Sensation Disorders 1185
            Vision Disorders 267
              blindness 202
                color blindness 10
                  red-green color blindness 1
paths to the root