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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Monochromacy
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Accession:HP:0007803 term browser browse the term
Definition:Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.
Comment:Rod monochromacy is the condition of having only rods in the retina. A rod monochromat is truly unable to see any color and can see only shades of grey.
Synonyms:exact_synonym: Complete achromatopsia
 related_synonym: TOTAL COLORBLINDNESS
 alt_id: HP:0007954
 xref: MESH:C536128;   MESH:D003117;   SNOMEDCT_US:56852002;   UMLS:C0152200;   UMLS:C1857618


show annotations for term's descendants           Sort by:
Monochromacy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF6 activating transcription factor 6 IAGP ORPHA:49382 HPO NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574 		JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP DNA:missense mutations:exon:c.682G>A (p.E228K), c.1315C>T (p.R439W), c.1405G>A
ClinVar Annotator: match by term: Colorblindness, total
ClinVar Annotator: match by term: Monochromacy
ORPHA:49382		 ClinVar
HPO
RGD		 PMID:9536098 PMID:9662398 PMID:11536077 PMID:14715947 PMID:14757870 More... RGD:9068452 NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601 		JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP OMIM:262300
DNA:deletion: :c.1148delC (p.T383Xfs)		 HPO
RGD		 PMID:17265047 RGD:9068446 NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675 		JBrowse link
G CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 IAGP OMIM:217080 HPO NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874 		JBrowse link
G GNAT2 G protein subunit alpha transducin 2 IAGP ORPHA:49382 HPO NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929 		JBrowse link
G PDE6C phosphodiesterase 6C IAGP ORPHA:49382 HPO NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010 		JBrowse link
G PDE6H phosphodiesterase 6H IAGP ORPHA:49382 HPO NCBI chr12:14,973,042...14,981,865
Ensembl chr12:14,973,042...14,981,865 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP ORPHA:49382 HPO NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
Achromatopsia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF6 activating transcription factor 6 IAGP OMIM:616517
ClinVar Annotator: match by term: Achromatopsia		 HPO
ClinVar		 PMID:16199547 PMID:24033266 PMID:26029869 PMID:26063662 PMID:26070061 More... NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574 		JBrowse link
G CABP4 calcium binding protein 4 IAGP ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Achromatopsia		 ClinVar PMID:19074807 PMID:23714322 PMID:25307992 PMID:25741868 PMID:28492532 More... NCBI chr11:67,452,403...67,461,752
Ensembl chr11:67,452,406...67,461,752 		JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP OMIM:216900
ClinVar Annotator: match by term: Achromatopsia		 HPO
ClinVar		 PMID:9536098 PMID:9662398 PMID:11536077 PMID:14757870 PMID:15712225 More... NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601 		JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP OMIM:262300
ClinVar Annotator: match by term: Achromatopsia
ClinVar Annotator: match by term: Rod monochromacy		 HPO
ClinVar		 PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 More... NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675 		JBrowse link
G GNAT2 G protein subunit alpha transducin 2 IAGP OMIM:613856
ClinVar Annotator: match by term: Achromatopsia		 HPO
ClinVar		 PMID:25741868 NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929 		JBrowse link
G NBAS NBAS subunit of NRZ tethering complex IAGP OMIM:614800 HPO NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,916...15,561,340 		JBrowse link
G OPN1MW opsin 1, medium wave sensitive IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861 		JBrowse link
G PDE6C phosphodiesterase 6C IAGP ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Achromatopsia		 ClinVar PMID:9536098 PMID:10393054 PMID:16199547 PMID:17576681 PMID:18614542 More... NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010 		JBrowse link
Blue cone monochromacy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1LW opsin 1, long wave sensitive IAGP OMIM:303700 ORPHA:16
ClinVar Annotator: match by term: Incomplete achromatopsia
ClinVar Annotator: match by term: S-cone monochromacy		 HPO
ClinVar		 PMID:1881435 PMID:8666378 PMID:8792812 PMID:15094734 PMID:25741868 NCBI chr  X:154,144,243...154,159,032
Ensembl chr  X:154,144,243...154,159,032 		JBrowse link
G OPN1MW opsin 1, medium wave sensitive IAGP OMIM:303700 ORPHA:16
ClinVar Annotator: match by term: S-cone monochromacy		 HPO
ClinVar		 PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:15094734 More... NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861 		JBrowse link
G OPSIN-LCR opsin locus control region IAGP ClinVar Annotator: match by term: S-cone monochromacy ClinVar NCBI chr  X:154,137,727...154,144,286 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 15292
    Phenotypic abnormality 15290
      Abnormality of the eye 3247
        Abnormal eye physiology 2543
          Abnormality of vision 1322
            Color vision defect 119
              Monochromacy 13
                Achromatopsia 8
                Cone monochromacy + 3
paths to the root