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.
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 alteration in the red (OPN1LW) and green (OPN1MW) visual pigment gene cluster on chromosome Xq28 or in the locus control region for the red and green pigment genes, located adjacent to and 5-prime of the pigment gene cluster. (DO)
Synonyms:
exact_synonym:
BCM; blue cone monochromatism; color blindness blue mono cone monochromatic type
ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type ClinVar Annotator: match by term: Blue cone monochromacy CTD Direct Evidence: marker/mechanism
OMIM:303700 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type | ClinVar Annotator: match by term: Cone dystrophy 5, X-linked
OMIM:303700 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type | ClinVar Annotator: match by term: Cone dystrophy 5, X-linked
ClinVar Annotator: match by term: Cone dystrophy 5, X-linked OMIM:303700 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type
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