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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.



show annotations for term's descendants           Sort by:
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 IAGP
EXP
ClinVar Annotator: match by term: Colorblindness, partial, deutan series
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DEUTERANOPIA
ClinVar
CTD
OMIM
PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:12051694 More... NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861
JBrowse link
G OPN1MW2 opsin 1, medium wave sensitive 2 IAGP ClinVar Annotator: match by term: Deuteranopia ClinVar PMID:25741868 NCBI chr  X:154,219,756...154,233,286
Ensembl chr  X:154,219,756...154,233,286
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40721
    sensory system disease 9668
      Vision Disorders 361
        blindness 281
          color blindness 17
            red-green color blindness 2
Path 2
Term Annotations click to browse term
  disease 40721
    disease of anatomical entity 32019
      nervous system disease 25893
        Neurologic Manifestations 15108
          sensory system disease 9668
            eye disease 4877
              Vision Disorders 361
                blindness 281
                  color blindness 17
                    red-green color blindness 2
paths to the root