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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 1:170,532,026...170,696,414
Ensembl chr 1:170,532,243...170,695,340
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 chr19:4,185,422...4,189,608
Ensembl chr19:4,185,422...4,194,032
JBrowse link
G Cnga3 cyclic nucleotide gated channel alpha 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9536098 PMID:9662398 PMID:11536077 PMID:14757870 PMID:15712225 More... NCBI chr 1:37,257,317...37,302,465
Ensembl chr 1:37,253,515...37,302,465
JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 More... NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO
IAGP
ClinVar Annotator: match by term: Achromatopsia ClinVar
MouseDO
PMID:25741868 NCBI chr 3:107,994,120...108,008,748
Ensembl chr 3:108,000,105...108,008,748
JBrowse link
G Opn1mw opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr  X:73,171,072...73,194,362
Ensembl chr  X:73,171,070...73,194,366
JBrowse link
G Pde6c phosphodiesterase 6C, cGMP specific, cone, alpha prime IAGP
ISO
ClinVar Annotator: match by term: Achromatopsia MouseDO
ClinVar
PMID:9536098 PMID:10393054 PMID:17576681 PMID:18614542 PMID:19615668 More... NCBI chr19:38,121,229...38,172,403
Ensembl chr19:38,121,229...38,172,406
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 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 chr 1:37,257,317...37,302,465
Ensembl chr 1:37,253,515...37,302,465
JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 treatment ISO
IMP
DNA:deletion: :c.1148delC (human) RGD PMID:17265047 PMID:21576125 PMID:21576125 RGD:9068446, RGD:9068450, RGD:9068450 NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
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 alpha 3 ISO
IAGP
ClinVar Annotator: match by term: Achromatopsia 2 | ClinVar Annotator: match by term: Rod monochromacy 2
OMIM:216900
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:9662398 PMID:11536077 PMID:14715947 PMID:14757870 More... NCBI chr 1:37,257,317...37,302,465
Ensembl chr 1:37,253,515...37,302,465
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 beta 3 ISO
IAGP
ClinVar Annotator: match by term: Achromatopsia 3 | ClinVar Annotator: match by term: Total colorblindness with myopia
OMIM:262300
OMIM
ClinVar
MouseDO
PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 More... NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
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
IAGP
ClinVar Annotator: match by term: Achromatopsia 4
OMIM:613856
OMIM
ClinVar
MouseDO
PMID:12077706 PMID:12205108 PMID:15557429 PMID:18643908 PMID:21107338 More... NCBI chr 3:107,994,120...108,008,748
Ensembl chr 3:108,000,105...108,008,748
JBrowse link
Achromatopsia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6c phosphodiesterase 6C, cGMP specific, cone, alpha prime ISO ClinVar Annotator: match by term: Achromatopsia 5 ClinVar PMID:16199547 PMID:19615668 PMID:19887631 PMID:23776498 PMID:25741868 More... NCBI chr19:38,121,229...38,172,403
Ensembl chr19:38,121,229...38,172,406
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
IAGP
ClinVar Annotator: match by term: Achromatopsia 7
OMIM:616517
OMIM
ClinVar
MouseDO
PMID:24824130 PMID:25741868 PMID:26029869 PMID:26063662 PMID:26070061 More... NCBI chr 1:170,532,026...170,696,414
Ensembl chr 1:170,532,243...170,695,340
JBrowse link
blue cone monochromacy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC107963956 green (M) opsin gene upstream regulatory region ISO ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type ClinVar NCBI chr  X:73,166,107...73,171,117 JBrowse link
G Opn1mw opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) IAGP
ISO
OMIM:303700
ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type | ClinVar Annotator: match by term: Cone dystrophy 5, X-linked
MouseDO
ClinVar
OMIM
PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:15094734 More... NCBI chr  X:73,171,072...73,194,362
Ensembl chr  X:73,171,070...73,194,366
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15283
    sensory system disease 6211
      eye disease 2902
        blindness 205
          color blindness 11
            achromatopsia 8
              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 2
Path 2
Term Annotations click to browse term
  disease 15283
    disease of anatomical entity 14937
      nervous system disease 12620
        Neurologic Manifestations 6096
          Sensation Disorders 1181
            Vision Disorders 270
              blindness 205
                color blindness 11
                  achromatopsia 8
                    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 2
paths to the root