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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Opn1mw opsin 1, medium wave sensitive JBrowse link X 156,569,683 156,589,907 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    sensory system disease 4769
      eye disease 2338
        blindness 88
          color blindness 10
            achromatopsia 7
              blue cone monochromacy 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        sensory system disease 4769
          eye disease 2338
            Vision Disorders 152
              blindness 88
                color blindness 10
                  achromatopsia 7
                    blue cone monochromacy 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.