Human Phenotype Ontology 
Grandparent Node:
Color vision defect (HP:0000551)help
Parent Node:
Dyschromatopsia (HP:0007641)help
..Starting node
Red-green dyschromatopsia (HP:0000642)help
Term ID: 642
Name: Red-green dyschromatopsia
Synonym: Dyschromatopsia with red-green confusion; Red green color blindness; Red green colour blindness; Red/green color vision defect; Red/green colour vision defect
Definition: Difficulty with discriminating red and green hues.
Reference: HP:0000642
Genes and Diseases:
       Child Nodes:
........expandDeuteranomaly (HP:0011520) help
........expandDeuteranopia (HP:0011521) help
........expandProtanopia (HP:0011522) help
........expandProtanomaly (HP:0200018) help

 Sister Nodes: 
..expandAnomalous trichromacy (HP:0011519) help
..expandDichromacy (HP:0011518) 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:0000642HP:0000642Red-green dyschromatopsia0ACO2 CL E G H50118OMIM:616289Optic atrophy 9.60
HP:0000642HP:0000642Red-green dyschromatopsia0C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degenerationHP:0040283 - Occasional20
HP:0000642HP:0000642Red-green dyschromatopsia0FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 27HP:0040283 - Occasional47
HP:0000642HP:0000642Red-green dyschromatopsia0NR2E3 CL E G H100027974OMIM:611131Retinitis pigmentosa 37.58
HP:0000642HP:0000642Red-green dyschromatopsia0OPA1 CL E G H49768140OMIM:165500Optic atrophy 1.214
HP:0000642HP:0000642Red-green dyschromatopsia0OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy.214
HP:0000642HP:0000642Red-green dyschromatopsia0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040283 - Occasional163
HP:0000642HP:0000642Red-green dyschromatopsia0OPN1LW CL E G H59569936OMIM:303900Colorblindness, partial, protan series7
HP:0000642HP:0000642Red-green dyschromatopsia0OPN1MW CL E G H26524206OMIM:303800Colorblindness, partial, deutan series5
HP:0000642HP:0011522Protanopia1 CL E G H
HP:0000642HP:0011521Deuteranopia1 CL E G H
HP:0000642HP:0200018Protanomaly1OPN1LW CL E G H59569936OMIM:303900Colorblindness, partial, protan series.7
HP:0000642HP:0011520Deuteranomaly1OPN1MW CL E G H26524206OMIM:303800Colorblindness, partial, deutan series.5


Diseases (9) :OMIM:616289 ORPHA:67042 ORPHA:98764 OMIM:611131 OMIM:165500 OMIM:125250 ORPHA:67036 OMIM:303900 OMIM:303800

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