Human Phenotype
Ontology
Grandparent Node: Color vision defect (HP:0000551) Parent Node: Dyschromatopsia (HP:0007641) ..Starting node .. Anomalous trichromacy (HP:0011519)
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: ........Tritanomaly (HP:0000552) ........Deuteranomaly (HP:0011520) ........Protanomaly (HP:0200018) Sister Nodes: ..Dichromacy (HP:0011518) ..Red-green dyschromatopsia (HP:0000642) 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:0011519 HP:0011519 Anomalous trichromacy 0 C1QTNF5 CL E G H 114902 14344 ORPHA:67042 Late-onset retinal degeneration 20 HP:0011519 HP:0011519 Anomalous trichromacy 0 DNM1L CL E G H 10059 2973 OMIM:610708 Optic atrophy 5 94 HP:0011519 HP:0011519 Anomalous trichromacy 0 GUCY2D CL E G H 3000 4689 OMIM:618555 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I 124 HP:0011519 HP:0011519 Anomalous trichromacy 0 NR2E3 CL E G H 10002 7974 OMIM:611131 Retinitis pigmentosa 37 58 HP:0011519 HP:0011519 Anomalous trichromacy 0 OPA1 CL E G H 4976 8140 OMIM:165500 Optic atrophy 1 214 HP:0011519 HP:0011519 Anomalous trichromacy 0 OPA1 CL E G H 4976 8140 OMIM:125250 Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 214 HP:0011519 HP:0011519 Anomalous trichromacy 0 OPA3 CL E G H 80207 8142 ORPHA:67036 Autosomal dominant optic atrophy and cataract 163 HP:0011519 HP:0011519 Anomalous trichromacy 0 OPN1LW CL E G H 5956 9936 OMIM:303900 Colorblindness, partial, protan series 7 HP:0011519 HP:0011519 Anomalous trichromacy 0 OPN1MW CL E G H 2652 4206 OMIM:303800 Colorblindness, partial, deutan series 5 HP:0011519 HP:0011519 Anomalous trichromacy 0 OPN1SW CL E G H 611 1012 OMIM:190900 TRITANOPIA 3 HP:0011519 HP:0011519 Anomalous trichromacy 0 OPN1SW CL E G H 611 1012 ORPHA:88629 Tritanopia 3 HP:0011519 HP:0011519 Anomalous trichromacy 0 POC1B CL E G H 282809 30836 OMIM:615973 Cone-Rod dystrophy 20 3 HP:0011519 HP:0000552 Tritanomaly 1 C1QTNF5 CL E G H 114902 14344 ORPHA:67042 Late-onset retinal degeneration HP:0040283 - Occasional 20 HP:0011519 HP:0000552 Tritanomaly 1 DNM1L CL E G H 10059 2973 OMIM:610708 Optic atrophy 5 . 94 HP:0011519 HP:0000552 Tritanomaly 1 GUCY2D CL E G H 3000 4689 OMIM:618555 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I 124 HP:0011519 HP:0000552 Tritanomaly 1 NR2E3 CL E G H 10002 7974 OMIM:611131 Retinitis pigmentosa 37 . 58 HP:0011519 HP:0000552 Tritanomaly 1 OPA1 CL E G H 4976 8140 OMIM:165500 Optic atrophy 1 . 214 HP:0011519 HP:0000552 Tritanomaly 1 OPA1 CL E G H 4976 8140 OMIM:125250 Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy . 214 HP:0011519 HP:0000552 Tritanomaly 1 OPA3 CL E G H 80207 8142 ORPHA:67036 Autosomal dominant optic atrophy and cataract HP:0040283 - Occasional 163 HP:0011519 HP:0200018 Protanomaly 1 OPN1LW CL E G H 5956 9936 OMIM:303900 Colorblindness, partial, protan series . 7 HP:0011519 HP:0011520 Deuteranomaly 1 OPN1MW CL E G H 2652 4206 OMIM:303800 Colorblindness, partial, deutan series . 5 HP:0011519 HP:0000552 Tritanomaly 1 OPN1SW CL E G H 611 1012 ORPHA:88629 Tritanopia HP:0040282 - Frequent 3 HP:0011519 HP:0000552 Tritanomaly 1 OPN1SW CL E G H 611 1012 OMIM:190900 TRITANOPIA . 3 HP:0011519 HP:0000552 Tritanomaly 1 POC1B CL E G H 282809 30836 OMIM:615973 Cone-Rod dystrophy 20 3
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.