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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
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Accession:DOID:13911 term browser browse the term
Definition:A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:exact_synonym: ACHM;   monochromatism
 primary_id: RDO:9004252
 xref: ICD10CM:H53.51;   ICD9CM:368.54;   NCI:C84528;   ORDO:49382
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
achromatopsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:24033266 PMID:28041643 NCBI chr13:89,053,457...89,242,531
Ensembl chr13:89,055,983...89,242,443
JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:19074807 PMID:23714322 PMID:28492532 PMID:29525873 PMID:30718709 NCBI chr 1:219,383,452...219,388,009
Ensembl chr 1:219,383,452...219,388,009
JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9662398 PMID:11536077 PMID:14757870 PMID:15712225 PMID:16961972 PMID:17265047 PMID:17693388 PMID:18445228 PMID:18521937 PMID:20079539 PMID:20238023 PMID:20506298 PMID:20549516 PMID:21778272 PMID:22995991 PMID:23972307 PMID:24033266 PMID:24148654 PMID:24504161 PMID:24903488 PMID:25168900 PMID:25616768 PMID:25637600 PMID:25741868 PMID:25943428 PMID:26992781 PMID:27820752 PMID:28159970 PMID:28341476 PMID:28492532 PMID:28559085 PMID:29053603 PMID:30682209 NCBI chr 9:43,807,412...43,858,225
Ensembl chr 9:43,807,677...43,854,396
JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:1347967 PMID:1572225 PMID:10888875 PMID:10958649 PMID:11124331 PMID:12815043 PMID:14757870 PMID:15161866 PMID:15657609 PMID:15712225 PMID:16319819 PMID:16379026 PMID:17265047 PMID:17652762 PMID:20079539 PMID:22975760 PMID:22995991 PMID:23776498 PMID:23805033 PMID:24033266 PMID:24148654 PMID:24504161 PMID:25205868 PMID:25326637 PMID:25474149 PMID:25558176 PMID:25616768 PMID:25741868 PMID:25770143 PMID:26106334 PMID:27479814 PMID:27874104 PMID:28005958 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28795510 PMID:29186038 PMID:29769798 PMID:30718709 PMID:32860008 NCBI chr 5:33,097,353...33,507,467
Ensembl chr 5:33,097,654...33,507,467
JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr 2:210,880,754...210,890,765
Ensembl chr 2:210,880,777...210,889,881
JBrowse link
G Pde6c phosphodiesterase 6C ISO
ISS
ClinVar Annotator: match by term: Achromatopsia ClinVar
MouseDO
PMID:10393054 PMID:18614542 PMID:19615668 PMID:19887631 PMID:23776498 PMID:25741868 PMID:26103963 PMID:28041643 PMID:28492532 PMID:28704108 PMID:30080950 NCBI chr 1:256,822,099...256,885,879
Ensembl chr 1:256,822,334...256,877,810
JBrowse link
Achromatopsia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO DNA:missense mutations:exon:c.682G>A (p.E228K), c.1315C>T (p.R439W), c.1405G>A (p.A469T) (human)
ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Rod monochromatism
ClinVar PMID:9662398 PMID:11536077 PMID:14757870 PMID:17693388 PMID:23972307 PMID:25741868 PMID:28492532 PMID:30682209, PMID:18521937 RGD:9068452 NCBI chr 9:43,807,412...43,858,225
Ensembl chr 9:43,807,677...43,854,396
JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 treatment ISO DNA:deletion: :c.1148delC (human)
ClinVar Annotator: match by term: Rod monochromacy
ClinVar PMID:1347967 PMID:10888875 PMID:10958649 PMID:11124331 PMID:12815043 PMID:14757870 PMID:15161866 PMID:15657609 PMID:15712225 PMID:16379026 PMID:17265047 PMID:22975760 PMID:22995991 PMID:23805033 PMID:24033266 PMID:24504161 PMID:25741868 PMID:25770143 PMID:28041643 PMID:28492532 PMID:28795510 PMID:30718709 PMID:32860008, PMID:17265047, PMID:21576125, PMID:21576125 RGD:9068446, RGD:9068450, RGD:9068450 NCBI chr 5:33,097,353...33,507,467
Ensembl chr 5:33,097,654...33,507,467
JBrowse link
achromatopsia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Achromatopsia 2
ClinVar Annotator: match by term: Rod monochromacy 2
ClinVar Annotator: match by OMIM:216900
OMIM
ClinVar
PMID:9662398 PMID:11536077 PMID:14715947 PMID:14757870 PMID:15712225 PMID:15980212 PMID:16961972 PMID:17265047 PMID:17693388 PMID:18445228 PMID:18521937 PMID:20079539 PMID:20238023 PMID:20506298 PMID:20549516 PMID:21778272 PMID:21901789 PMID:22995991 PMID:23972307 PMID:24033266 PMID:24148654 PMID:24504161 PMID:24676353 PMID:24903488 PMID:24906859 PMID:25168900 PMID:25616768 PMID:25637600 PMID:25741868 PMID:25943428 PMID:26106334 PMID:26407004 PMID:26493561 PMID:26992781 PMID:27820752 PMID:28041643 PMID:28159970 PMID:28341476 PMID:28492532 PMID:28559085 PMID:29053603 PMID:29099798 PMID:29165669 PMID:30289319 PMID:30337596 PMID:30682209 NCBI chr 9:43,807,412...43,858,225
Ensembl chr 9:43,807,677...43,854,396
JBrowse link
achromatopsia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Achromatopsia 3
ClinVar Annotator: match by term: Total colorblindness with myopia
ClinVar Annotator: match by term: ROD MONOCHROMATISM 1
ClinVar Annotator: match by OMIM:262300
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
JBrowse link
achromatopsia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Achromatopsia 4
ClinVar Annotator: match by OMIM:613856
OMIM
ClinVar
PMID:12077706 PMID:12205108 PMID:15557429 PMID:21107338 PMID:25741868 PMID:28492532 NCBI chr 2:210,880,754...210,890,765
Ensembl chr 2:210,880,777...210,889,881
JBrowse link
Achromatopsia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia 5 ClinVar PMID:19887631 PMID:25741868 PMID:30080950 NCBI chr 1:256,822,099...256,885,879
Ensembl chr 1:256,822,334...256,877,810
JBrowse link
achromatopsia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Achromatopsia 7 OMIM
ClinVar
PMID:24824130 PMID:26029869 PMID:26063662 NCBI chr13:89,053,457...89,242,531
Ensembl chr13:89,055,983...89,242,443
JBrowse link
blue cone monochromacy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Blue cone monochromacy
ClinVar Annotator: match by term: Cone dystrophy 5, X-linked
ClinVar Annotator: match by term: BLUE CONE MONOCHROMACY
OMIM
ClinVar
PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:15094734 PMID:19421413 PMID:20579627 NCBI chr  X:156,569,683...156,589,907
Ensembl chr  X:156,569,683...156,589,907
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    sensory system disease 5248
      eye disease 2673
        blindness 93
          color blindness 10
            achromatopsia 7
              Achromatopsia 1 2
              Achromatopsia 5 1
              Achromatopsia Incomplete, X-Linked 0
              achromatopsia 2 1
              achromatopsia 3 1
              achromatopsia 4 1
              achromatopsia 7 1
              blue cone monochromacy 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        Neurologic Manifestations 4202
          Sensation Disorders 977
            Vision Disorders 158
              blindness 93
                color blindness 10
                  achromatopsia 7
                    Achromatopsia 1 2
                    Achromatopsia 5 1
                    Achromatopsia Incomplete, X-Linked 0
                    achromatopsia 2 1
                    achromatopsia 3 1
                    achromatopsia 4 1
                    achromatopsia 7 1
                    blue cone monochromacy 1
paths to the root