Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18213
    sensory system disease 6432
      eye disease 2959
        blindness 200
          color blindness 10
            achromatopsia 7
              blue cone monochromacy 1
Path 2
Term Annotations click to browse term
  disease 18213
    disease of anatomical entity 17574
      nervous system disease 13207
        sensory system disease 6432
          eye disease 2959
            Vision Disorders 265
              blindness 200
                color blindness 10
                  achromatopsia 7
                    blue cone monochromacy 1
paths to the root