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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:blue color blindness
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Accession:DOID:11661 term browser browse the term
Definition:A color blindness that is characterized by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. (DO)
Synonyms:exact_synonym: CBT;   COLORBLINDNESS, TRITAN;   COLORBLINDNESS, TRITANOPIC;   blue colorblindness;   tritan defect;   tritanopia
 primary_id: OMIM:190900
 xref: ICD10CM:H53.55;   ICD9CM:368.53
For additional species annotation, visit the Alliance of Genome Resources.



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blue color blindness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1SW opsin 1, short wave sensitive IAGP
EXP
ClinVar Annotator: match by term: Tritanopia
ClinVar Annotator: match by term: Blue color blindness
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1386496 PMID:1531728 PMID:2937147 PMID:25741868 PMID:28492532 More... NCBI chr 7:128,772,485...128,775,794
Ensembl chr 7:128,772,485...128,775,794
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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
            blue color blindness 1
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
                    blue color blindness 1
paths to the root