Human Phenotype Ontology 
Grandparent Node:
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Abnormality of vision (HP:0000504)help
Grandparent Node:
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Congenital stationary cone dysfunction (HP:0030637)help
Parent Node:
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Color vision defect (HP:0000551)help
..Starting node
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Color vision test abnormality (HP:0030584)help
Term ID: 30584
Name: Color vision test abnormality
Synonym: Colour vision test abnormality
Definition:
Comments:
Reference: HP:0030584
Genes and Diseases:
 
       Child Nodes:
........expandRed desaturation (HP:0030585) help
........expandAbnormal Ishihara plate test (HP:0030586) help
........expandAbnormal Hardy-Rand-Rittler plate test (HP:0030587) help

 Sister Nodes: 
..expandDyschromatopsia (HP:0007641) help
..expandMonochromacy (HP:0007803) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030584HP:0030584Color vision test abnormality0AFG3L2 CL E G H10939315OMIM:618977OPTIC ATROPHY 12; OPA1286
HP:0030584HP:0030584Color vision test abnormality0ATF6 CL E G H22926791ORPHA:49382AchromatopsiaHP:0040281 - Very frequent10
HP:0030584HP:0030584Color vision test abnormality0CNGA3 CL E G H12612150ORPHA:49382AchromatopsiaHP:0040281 - Very frequent82
HP:0030584HP:0030584Color vision test abnormality0CNGB3 CL E G H547142153ORPHA:49382AchromatopsiaHP:0040281 - Very frequent194
HP:0030584HP:0030584Color vision test abnormality0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040282 - Frequent76
HP:0030584HP:0030584Color vision test abnormality0GNAT2 CL E G H27804394ORPHA:49382AchromatopsiaHP:0040281 - Very frequent19
HP:0030584HP:0030584Color vision test abnormality0OPN1SW CL E G H6111012ORPHA:88629TritanopiaHP:0040282 - Frequent3
HP:0030584HP:0030584Color vision test abnormality0PDE6C CL E G H51468787ORPHA:49382AchromatopsiaHP:0040281 - Very frequent80
HP:0030584HP:0030584Color vision test abnormality0PDE6H CL E G H51498790ORPHA:49382AchromatopsiaHP:0040281 - Very frequent14
HP:0030584HP:0030584Color vision test abnormality0RPGR CL E G H610310295ORPHA:49382AchromatopsiaHP:0040281 - Very frequent200
HP:0030584HP:0030587Abnormal Hardy-Rand-Rittler plate test1 CL E G H
HP:0030584HP:0030585Red desaturation1 CL E G H
HP:0030584HP:0030586Abnormal Ishihara plate test1AFG3L2 CL E G H10939315OMIM:618977OPTIC ATROPHY 12; OPA1286


Genes (10) :AFG3L2 ATF6 CNGA3 CNGB3 FA2H GNAT2 OPN1SW PDE6C PDE6H RPGR

Diseases (4) :OMIM:618977 ORPHA:49382 ORPHA:329308 ORPHA:88629
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.