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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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blue color blindness | ClinVar Annotator: match by term: Tritanopia		 OMIM
CTD
ClinVar		 PMID:1386496 PMID:1531728 PMID:2937147 PMID:25741868 PMID:28492532 More... NCBI chr 4:57,977,317...57,980,457
Ensembl chr 4:57,977,313...57,980,457 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      Vision Disorders 196
        blindness 121
          color blindness 13
            blue color blindness 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              Vision Disorders 196
                blindness 121
                  color blindness 13
                    blue color blindness 1
paths to the root