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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:16199547 PMID:24033266 PMID:26029869 PMID:26063662 PMID:26070061 More... NCBI chr 1:137,178,629...137,382,256
Ensembl chr 1:140,977,750...141,176,725
JBrowse link
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:19074807 PMID:23714322 PMID:25307992 PMID:28492532 PMID:29525873 More... NCBI chr11:62,813,477...62,820,425
Ensembl chr11:66,121,992...66,128,758
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9536098 PMID:9662398 PMID:11536077 PMID:14757870 PMID:15712225 More... NCBI chr2A:100,911,053...100,962,278
Ensembl chr2A:99,259,808...99,308,517
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 More... NCBI chr 8:83,269,589...83,439,999
Ensembl chr 8:85,238,043...85,407,059
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr 1:111,980,855...111,990,686
Ensembl chr 1:111,208,510...111,225,808
JBrowse link
G PDE6C phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9536098 PMID:10393054 PMID:17576681 PMID:18614542 PMID:19615668 More... NCBI chr10:90,361,003...90,414,169
Ensembl chr10:93,871,704...93,924,654
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) RGD PMID:18521937 RGD:9068452 NCBI chr2A:100,911,053...100,962,278
Ensembl chr2A:99,259,808...99,308,517
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 treatment ISO DNA:deletion: :c.1148delC (human) RGD PMID:17265047 PMID:21576125 RGD:9068446 RGD:9068450 NCBI chr 8:83,269,589...83,439,999
Ensembl chr 8:85,238,043...85,407,059
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 OMIM
ClinVar
PMID:9536098 PMID:9662398 PMID:11536077 PMID:14715947 PMID:14757870 More... NCBI chr2A:100,911,053...100,962,278
Ensembl chr2A:99,259,808...99,308,517
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 OMIM
ClinVar
PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 More... NCBI chr 8:83,269,589...83,439,999
Ensembl chr 8:85,238,043...85,407,059
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 OMIM
ClinVar
PMID:12077706 PMID:12205108 PMID:15557429 PMID:18643908 PMID:21107338 More... NCBI chr 1:111,980,855...111,990,686
Ensembl chr 1:111,208,510...111,225,808
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:16199547 PMID:19615668 PMID:19887631 PMID:23776498 PMID:25741868 More... NCBI chr10:90,361,003...90,414,169
Ensembl chr10:93,871,704...93,924,654
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:25741868 PMID:26029869 PMID:26063662 PMID:26070061 More... NCBI chr 1:137,178,629...137,382,256
Ensembl chr 1:140,977,750...141,176,725
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14685
    sensory system disease 5999
      eye disease 2788
        blindness 175
          color blindness 9
            achromatopsia 6
              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 0
Path 2
Term Annotations click to browse term
  disease 14685
    disease of anatomical entity 14400
      nervous system disease 12239
        Neurologic Manifestations 5921
          Sensation Disorders 1093
            Vision Disorders 237
              blindness 175
                color blindness 9
                  achromatopsia 6
                    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 0
paths to the root