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.
Comments:
Reference:
HP:0000642
Genes and Diseases: Child Nodes: ........Deuteranomaly (HP:0011520) ........Deuteranopia (HP:0011521) ........Protanopia (HP:0011522) ........Protanomaly (HP:0200018) Sister Nodes: ..Anomalous trichromacy (HP:0011519) ..Dichromacy (HP:0011518) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HPO disease - gene - phenotype typical associations: HPO disease - gene - phenotype less frequent non-typical associations: HP:0000642 HP:0000642 Red-green dyschromatopsia 0 ACO2 CL E G H 50 118 OMIM:616289 Optic atrophy 9 . 60 HP:0000642 HP:0000642 Red-green dyschromatopsia 0 C1QTNF5 CL E G H 114902 14344 ORPHA:67042 Late-onset retinal degeneration HP:0040283 - Occasional 20 HP:0000642 HP:0000642 Red-green dyschromatopsia 0 FGF14 CL E G H 2259 3671 ORPHA:98764 Spinocerebellar ataxia type 27 HP:0040283 - Occasional 47 HP:0000642 HP:0000642 Red-green dyschromatopsia 0 NR2E3 CL E G H 10002 7974 OMIM:611131 Retinitis pigmentosa 37 . 58 HP:0000642 HP:0000642 Red-green dyschromatopsia 0 OPA1 CL E G H 4976 8140 OMIM:165500 Optic atrophy 1 . 214 HP:0000642 HP:0000642 Red-green dyschromatopsia 0 OPA1 CL E G H 4976 8140 OMIM:125250 Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy . 214 HP:0000642 HP:0000642 Red-green dyschromatopsia 0 OPA3 CL E G H 80207 8142 ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0040283 - Occasional 163 HP:0000642 HP:0000642 Red-green dyschromatopsia 0 OPN1LW CL E G H 5956 9936 OMIM:303900 Colorblindness, partial, protan series 7 HP:0000642 HP:0000642 Red-green dyschromatopsia 0 OPN1MW CL E G H 2652 4206 OMIM:303800 Colorblindness, partial, deutan series 5 HP:0000642 HP:0011522 Protanopia 1 CL E G H HP:0000642 HP:0011521 Deuteranopia 1 CL E G H HP:0000642 HP:0200018 Protanomaly 1 OPN1LW CL E G H 5956 9936 OMIM:303900 Colorblindness, partial, protan series . 7 HP:0000642 HP:0011520 Deuteranomaly 1 OPN1MW CL E G H 2652 4206 OMIM:303800 Colorblindness, partial, deutan series . 5
Genes (8) :ACO2 C1QTNF5 FGF14 NR2E3 OPA1 OPA3 OPN1LW OPN1MW 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.