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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:Color vision test abnormality
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Accession:HP:0030584 term browser browse the term
Synonyms:exact_synonym: Colour vision test abnormality
 xref: UMLS:C4073057


show annotations for term's descendants           Sort by:
Color vision test abnormality term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF6 activating transcription factor 6 IAGP HPO ORPHA:49382 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 HPO ORPHA:49382 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 HPO ORPHA:49382 NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675 		JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP HPO ORPHA:329308 NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		JBrowse link
G GNAT2 G protein subunit alpha transducin 2 IAGP HPO ORPHA:49382 NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929 		JBrowse link
G OPN1SW opsin 1, short wave sensitive IAGP HPO ORPHA:88629 NCBI chr 7:128,772,485...128,775,794
Ensembl chr 7:128,772,485...128,775,794 		JBrowse link
G PDE6C phosphodiesterase 6C IAGP HPO ORPHA:49382 NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010 		JBrowse link
G PDE6H phosphodiesterase 6H IAGP HPO ORPHA:49382 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 HPO ORPHA:49382 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
Abnormal Ishihara plate test term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 IAGP HPO OMIM:618977 NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21487
    Phenotypic abnormality 21477
      Abnormality of the eye 3464
        Abnormal eye physiology 2614
          Abnormality of vision 1375
            Color vision defect 126
              Color vision test abnormality 10
                Abnormal Hardy-Rand-Rittler plate test 0
                Abnormal Ishihara plate test 1
                Red desaturation 0
paths to the root