Human Phenotype Ontology 
Grandparent Node:
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Dyschromatopsia (HP:0007641)help
Parent Node:
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Anomalous trichromacy (HP:0011519)help
..Starting node
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Tritanomaly (HP:0000552)help
Term ID: 552
Name: Tritanomaly
Synonym: Blue yellow color blindness; Blue yellow colour blindness; Blue-yellow dyschromatopsia; Blue/yellow color vision defect; Blue/yellow colour vision defect; Dyschromatopsia, blue-yellow
Definition: Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment.
Comments:
Reference: HP:0000552
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDeuteranomaly (HP:0011520) help
..expandProtanomaly (HP:0200018) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000552HP:0000552Tritanomaly0DNM1L CL E G H10059610708Optic atrophy 5610708C1853139OMIM13322973603850
HP:0000552HP:0000552Tritanomaly0DNM1L CL E G H10059610708Optic atrophy 5610708C1853139OMIM12632973603850
HP:0000552HP:0000552Tritanomaly0NR2E3 CL E G H10002611131Retinitis pigmentosa 37611131C1970163OMIM13637974604485
HP:0000552HP:0000552Tritanomaly0NR2E3 CL E G H10002611131Retinitis pigmentosa 37611131C1970163OMIM14227974604485
HP:0000552HP:0000552Tritanomaly0OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM15988140605290
HP:0000552HP:0000552Tritanomaly0OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM17398140605290
HP:0000552HP:0000552Tritanomaly0OPA1 CL E G H4976165500Dominant hereditary optic atrophy165500C0338508OMIM17398140605290
HP:0000552HP:0000552Tritanomaly0OPA1 CL E G H4976165500Dominant hereditary optic atrophy165500C0338508OMIM15988140605290
HP:0000552HP:0000552Tritanomaly0OPN1SW CL E G H611190900Tritanopia190900C0155017OMIM11211012613522
HP:0000552HP:0000552Tritanomaly0OPN1SW CL E G H611190900Tritanopia190900C0155017OMIM11771012613522
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000552HP:0000552Tritanomaly0OPA3 CL E G H8020767036ORPHA04018142606580
HP:0000552HP:0000552Tritanomaly0OPA3 CL E G H8020767036ORPHA03728142606580


Genes (5) :DNM1L NR2E3 OPA1 OPA3 OPN1SW

Diseases (6) :610708 611131 125250 165500 67036 190900
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.