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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:achromatopsia 3
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Accession:DOID:0110008 term browser browse the term
Definition:An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. (DO)
Synonyms:exact_synonym: ACHM 3;   ACHM1;   ACHM3;   Achromatopsia (cone degeneration, hemeralopia);   Achromatopsia with myopia;   Pingelapese;   Pingelapese Blindness;   RMCH1;   ROD MONOCHROMACY 1;   ROD MONOCHROMATISM 1;   total colorblindness with myopia
 narrow_synonym: AMAL;   GSPT
 primary_id: MESH:C536129
 alt_id: OMIA:001365;   OMIA:001676;   OMIM:262300;   RDO:0001573
 xref: GARD:9650
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
achromatopsia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by OMIM:262300
ClinVar Annotator: match by term: Achromatopsia 3
ClinVar Annotator: match by term: ROD MONOCHROMATISM 1
ClinVar Annotator: match by term: Total colorblindness with myopia
OMIM
ClinVar
PMID:1347967 PMID:1572225 PMID:10888875 PMID:10958649 PMID:11124331 PMID:12357335 PMID:12815043 PMID:14757870 PMID:15161866 PMID:15223812 PMID:15459792 PMID:15657609 PMID:15712225 PMID:16319819 PMID:16379026 PMID:17265047 PMID:17652762 PMID:19592100 PMID:20079539 PMID:20574029 PMID:22264887 PMID:22975760 PMID:22995991 PMID:23776498 PMID:23805033 PMID:24033266 PMID:24148654 PMID:24504161 PMID:25205868 PMID:25474149 PMID:25558076 PMID:25558176 PMID:25616768 PMID:25741868 PMID:25770143 PMID:26106334 PMID:26992781 PMID:27479814 PMID:27874104 PMID:28005958 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28795510 PMID:29186038 PMID:29769798 PMID:30337596 PMID:30718709 PMID:32860008 NCBI chr 5:33,097,353...33,507,467
Ensembl chr 5:33,097,654...33,507,467
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    sensory system disease 5176
      eye disease 2591
        blindness 92
          color blindness 10
            achromatopsia 7
              achromatopsia 3 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          eye disease 2591
            Vision Disorders 159
              blindness 92
                color blindness 10
                  achromatopsia 7
                    achromatopsia 3 1
paths to the root