Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Dyschromatopsia (HP:0007641)

Parent Node:
Anomalous trichromacy (HP:0011519)

..Starting node
..Tritanomaly (HP:0000552)

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:

Deuteranomaly (HP:0011520)

Protanomaly (HP:0200018)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000552	HP:0000552	Tritanomaly	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040283 - Occasional	20
HP:0000552	HP:0000552	Tritanomaly	0	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5	.	94
HP:0000552	HP:0000552	Tritanomaly	0	GUCY2D CL E G H	3000	4689	OMIM:618555	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I		124
HP:0000552	HP:0000552	Tritanomaly	0	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37	.	58
HP:0000552	HP:0000552	Tritanomaly	0	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.	214
HP:0000552	HP:0000552	Tritanomaly	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.	214
HP:0000552	HP:0000552	Tritanomaly	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional	163
HP:0000552	HP:0000552	Tritanomaly	0	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia	HP:0040282 - Frequent	3
HP:0000552	HP:0000552	Tritanomaly	0	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA	.	3
HP:0000552	HP:0000552	Tritanomaly	0	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20		3

Genes (8) :C1QTNF5 DNM1L GUCY2D NR2E3 OPA1 OPA3 OPN1SW POC1B

Diseases (10) :ORPHA:67042 OMIM:610708 OMIM:618555 OMIM:611131 OMIM:165500 OMIM:125250 ORPHA:67036 ORPHA:88629 OMIM:190900 OMIM:615973

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

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