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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



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 LOC125467793 Sharpr-MPRA regulatory region 3572 IAGP ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type ClinVar NCBI chr  X:154,136,674...154,136,968 JBrowse link
G OPN1LW opsin 1, long wave sensitive IAGP
EXP
ClinVar Annotator: match by term: BLUE CONE MONOCHROMACY
ClinVar Annotator: match by term: Blue cone monochromacy
ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:1881435 PMID:8666378 PMID:8792812 PMID:15094734 PMID:25741868 NCBI chr  X:154,144,243...154,159,032
Ensembl chr  X:154,144,243...154,159,032
JBrowse link
G OPN1MW opsin 1, medium wave sensitive IAGP
EXP
ISS
ClinVar Annotator: match by term: Cone dystrophy 5, X-linked
ClinVar Annotator: match by term: BLUE CONE MONOCHROMACY
ClinVar Annotator: match by term: Blue cone monochromacy
CTD Direct Evidence: marker/mechanism
OMIM:303700
ClinVar
OMIM
CTD
MouseDO
PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:15094734 More... NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861
JBrowse link
G OPSIN-LCR opsin locus control region IAGP ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type ClinVar NCBI chr  X:154,137,727...154,144,286 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40721
    sensory system disease 9668
      Vision Disorders 361
        blindness 281
          color blindness 17
            achromatopsia 12
              blue cone monochromacy 4
Path 2
Term Annotations click to browse term
  disease 40721
    disease of anatomical entity 32019
      nervous system disease 25893
        Neurologic Manifestations 15108
          sensory system disease 9668
            eye disease 4877
              Vision Disorders 361
                blindness 281
                  color blindness 17
                    achromatopsia 12
                      blue cone monochromacy 4
paths to the root