Human Phenotype Ontology 
Grandparent Node:
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Color vision defect (HP:0000551)help
Parent Node:
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Dyschromatopsia (HP:0007641)help
..Starting node
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Anomalous trichromacy (HP:0011519)help
Term ID: 11519
Name: Anomalous trichromacy
Synonym:
Definition: Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones.
Comments:
Reference: HP:0011519
Genes and Diseases:
 
       Child Nodes:
........expandTritanomaly (HP:0000552) help
........expandDeuteranomaly (HP:0011520) help
........expandProtanomaly (HP:0200018) help

 Sister Nodes: 
..expandDichromacy (HP:0011518) help
..expandRed-green dyschromatopsia (HP:0000642) 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:0011519HP:0011519Anomalous trichromacy0C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degeneration20
HP:0011519HP:0011519Anomalous trichromacy0DNM1L CL E G H100592973OMIM:610708Optic atrophy 594
HP:0011519HP:0011519Anomalous trichromacy0GUCY2D CL E G H30004689OMIM:618555NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I124
HP:0011519HP:0011519Anomalous trichromacy0NR2E3 CL E G H100027974OMIM:611131Retinitis pigmentosa 3758
HP:0011519HP:0011519Anomalous trichromacy0OPA1 CL E G H49768140OMIM:165500Optic atrophy 1214
HP:0011519HP:0011519Anomalous trichromacy0OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy214
HP:0011519HP:0011519Anomalous trichromacy0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataract163
HP:0011519HP:0011519Anomalous trichromacy0OPN1LW CL E G H59569936OMIM:303900Colorblindness, partial, protan series7
HP:0011519HP:0011519Anomalous trichromacy0OPN1MW CL E G H26524206OMIM:303800Colorblindness, partial, deutan series5
HP:0011519HP:0011519Anomalous trichromacy0OPN1SW CL E G H6111012OMIM:190900TRITANOPIA3
HP:0011519HP:0011519Anomalous trichromacy0OPN1SW CL E G H6111012ORPHA:88629Tritanopia3
HP:0011519HP:0011519Anomalous trichromacy0POC1B CL E G H28280930836OMIM:615973Cone-Rod dystrophy 203
HP:0011519HP:0000552Tritanomaly1C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degenerationHP:0040283 - Occasional20
HP:0011519HP:0000552Tritanomaly1DNM1L CL E G H100592973OMIM:610708Optic atrophy 5.94
HP:0011519HP:0000552Tritanomaly1GUCY2D CL E G H30004689OMIM:618555NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I124
HP:0011519HP:0000552Tritanomaly1NR2E3 CL E G H100027974OMIM:611131Retinitis pigmentosa 37.58
HP:0011519HP:0000552Tritanomaly1OPA1 CL E G H49768140OMIM:165500Optic atrophy 1.214
HP:0011519HP:0000552Tritanomaly1OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy.214
HP:0011519HP:0000552Tritanomaly1OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040283 - Occasional163
HP:0011519HP:0200018Protanomaly1OPN1LW CL E G H59569936OMIM:303900Colorblindness, partial, protan series.7
HP:0011519HP:0011520Deuteranomaly1OPN1MW CL E G H26524206OMIM:303800Colorblindness, partial, deutan series.5
HP:0011519HP:0000552Tritanomaly1OPN1SW CL E G H6111012ORPHA:88629TritanopiaHP:0040282 - Frequent3
HP:0011519HP:0000552Tritanomaly1OPN1SW CL E G H6111012OMIM:190900TRITANOPIA.3
HP:0011519HP:0000552Tritanomaly1POC1B CL E G H28280930836OMIM:615973Cone-Rod dystrophy 203


Genes (10) :C1QTNF5 DNM1L GUCY2D NR2E3 OPA1 OPA3 OPN1LW OPN1MW OPN1SW POC1B

Diseases (12) :ORPHA:67042 OMIM:610708 OMIM:618555 OMIM:611131 OMIM:165500 OMIM:125250 ORPHA:67036 OMIM:303900 OMIM:303800 OMIM:190900 ORPHA:88629 OMIM:615973
 

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