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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 characterised 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
 alt_id: RDO:0008189
 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 ClinVar Annotator: match by OMIM:190900
ClinVar Annotator: match by term: Tritanopia
OMIM
ClinVar
PMID:1386496, PMID:1531728, PMID:2937147, PMID:25605338, PMID:28492532 NCBI chr 4:56,653,840...56,656,980
Ensembl chr 4:56,653,844...56,656,980
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      eye disease 2652
        blindness 96
          color blindness 19
            blue color blindness 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        Neurologic Manifestations 4189
          Sensation Disorders 1019
            Vision Disorders 199
              blindness 96
                color blindness 19
                  blue color blindness 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.