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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 cone monochromacy
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Accession:DOID:0050679 term browser browse the term
Definition:An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance. (DO)
Synonyms:exact_synonym: BCM;   blue cone monochromatism;   color blindness blue mono cone monochromatic type
 narrow_synonym: CBBM CONE DYSTROPHY 5, X-LINKED;   COD5
 related_synonym: cone dystrophy 5, X-linked
 primary_id: MESH:C536238
 alt_id: OMIM:303700;   RDO:0001732
 xref: GARD:917
For additional species annotation, visit the Alliance of Genome Resources.



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blue cone monochromacy 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: Color blindness blue mono cone monochromatic type | ClinVar Annotator: match by term: Cone dystrophy 5, X-linked OMIM
ClinVar
PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:15094734 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 18256
    sensory system disease 6575
      Vision Disorders 269
        blindness 203
          color blindness 11
            achromatopsia 7
              blue cone monochromacy 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        Neurologic Manifestations 9338
          sensory system disease 6575
            eye disease 2996
              Vision Disorders 269
                blindness 203
                  color blindness 11
                    achromatopsia 7
                      blue cone monochromacy 1
paths to the root