Human Phenotype Ontology

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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:
Abnormality of vision (HP:0000504)

Grandparent Node:
Congenital stationary cone dysfunction (HP:0030637)

Parent Node:
Color vision defect (HP:0000551)

..Starting node
..Dyschromatopsia (HP:0007641)

Term ID:

7641

Name:

Dyschromatopsia

Synonym:

Color blindness; Colour blindness

Definition:

A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.

Comments:

Reference:

HP:0007641

Genes and Diseases:

Child Nodes:

........

Red-green dyschromatopsia (HP:0000642)

................... HP:0011520 Deuteranomaly
................... HP:0011521 Deuteranopia
................... HP:0011522 Protanopia
................... HP:0200018 Protanomaly

........

Dichromacy (HP:0011518)

................... HP:0011521 Deuteranopia
................... HP:0011522 Protanopia

........

Anomalous trichromacy (HP:0011519)

................... HP:0000552 Tritanomaly
................... HP:0011520 Deuteranomaly
................... HP:0200018 Protanomaly

Sister Nodes:

Color vision test abnormality (HP:0030584)

Monochromacy (HP:0007803)

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:0007641	HP:0007641	Dyschromatopsia	0	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9		60
HP:0007641	HP:0007641	Dyschromatopsia	0	AFG3L2 CL E G H	10939	315	OMIM:618977	OPTIC ATROPHY 12; OPA12		86
HP:0007641	HP:0007641	Dyschromatopsia	0	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	HP:0040283 - Occasional	182
HP:0007641	HP:0007641	Dyschromatopsia	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration		20
HP:0007641	HP:0007641	Dyschromatopsia	0	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL		9
HP:0007641	HP:0007641	Dyschromatopsia	0	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3	.	194
HP:0007641	HP:0007641	Dyschromatopsia	0	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5		94
HP:0007641	HP:0007641	Dyschromatopsia	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27		47
HP:0007641	HP:0007641	Dyschromatopsia	0	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040284 - Very rare	24
HP:0007641	HP:0007641	Dyschromatopsia	0	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040284 - Very rare	124
HP:0007641	HP:0007641	Dyschromatopsia	0	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6		124
HP:0007641	HP:0007641	Dyschromatopsia	0	GUCY2D CL E G H	3000	4689	OMIM:618555	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I		124
HP:0007641	HP:0007641	Dyschromatopsia	0	IMPG1 CL E G H	3617	6055	OMIM:153870	Macular dystrophy, concentric annular	.	4
HP:0007641	HP:0007641	Dyschromatopsia	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional	8
HP:0007641	HP:0007641	Dyschromatopsia	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0007641	HP:0007641	Dyschromatopsia	0	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37		58
HP:0007641	HP:0007641	Dyschromatopsia	0	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1		214
HP:0007641	HP:0007641	Dyschromatopsia	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy		214
HP:0007641	HP:0007641	Dyschromatopsia	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract		163
HP:0007641	HP:0007641	Dyschromatopsia	0	OPN1LW CL E G H	5956	9936	OMIM:303900	Colorblindness, partial, protan series		7
HP:0007641	HP:0007641	Dyschromatopsia	0	OPN1MW CL E G H	2652	4206	OMIM:303800	Colorblindness, partial, deutan series		5
HP:0007641	HP:0007641	Dyschromatopsia	0	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia		3
HP:0007641	HP:0007641	Dyschromatopsia	0	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA		3
HP:0007641	HP:0007641	Dyschromatopsia	0	PDE6C CL E G H	5146	8787	OMIM:613093	Cone dystrophy 4	.	80
HP:0007641	HP:0007641	Dyschromatopsia	0	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A	.	14
HP:0007641	HP:0007641	Dyschromatopsia	0	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20		3
HP:0007641	HP:0007641	Dyschromatopsia	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0007641	HP:0007641	Dyschromatopsia	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	HP:0040283 - Occasional	464
HP:0007641	HP:0007641	Dyschromatopsia	0	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2	.	110
HP:0007641	HP:0007641	Dyschromatopsia	0	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040284 - Very rare	159
HP:0007641	HP:0007641	Dyschromatopsia	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	103
HP:0007641	HP:0007641	Dyschromatopsia	0	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy	.	23
HP:0007641	HP:0011518	Dichromacy	1	CL E G H
HP:0007641	HP:0000642	Red-green dyschromatopsia	1	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9	.	60
HP:0007641	HP:0000642	Red-green dyschromatopsia	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040283 - Occasional	20
HP:0007641	HP:0011519	Anomalous trichromacy	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration		20
HP:0007641	HP:0011519	Anomalous trichromacy	1	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5		94
HP:0007641	HP:0000642	Red-green dyschromatopsia	1	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040283 - Occasional	47
HP:0007641	HP:0011519	Anomalous trichromacy	1	GUCY2D CL E G H	3000	4689	OMIM:618555	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I		124
HP:0007641	HP:0000642	Red-green dyschromatopsia	1	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37	.	58
HP:0007641	HP:0011519	Anomalous trichromacy	1	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37		58
HP:0007641	HP:0000642	Red-green dyschromatopsia	1	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.	214
HP:0007641	HP:0011519	Anomalous trichromacy	1	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1		214
HP:0007641	HP:0000642	Red-green dyschromatopsia	1	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.	214
HP:0007641	HP:0011519	Anomalous trichromacy	1	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy		214
HP:0007641	HP:0011519	Anomalous trichromacy	1	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract		163
HP:0007641	HP:0000642	Red-green dyschromatopsia	1	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional	163
HP:0007641	HP:0011519	Anomalous trichromacy	1	OPN1LW CL E G H	5956	9936	OMIM:303900	Colorblindness, partial, protan series		7
HP:0007641	HP:0000642	Red-green dyschromatopsia	1	OPN1LW CL E G H	5956	9936	OMIM:303900	Colorblindness, partial, protan series		7
HP:0007641	HP:0000642	Red-green dyschromatopsia	1	OPN1MW CL E G H	2652	4206	OMIM:303800	Colorblindness, partial, deutan series		5
HP:0007641	HP:0011519	Anomalous trichromacy	1	OPN1MW CL E G H	2652	4206	OMIM:303800	Colorblindness, partial, deutan series		5
HP:0007641	HP:0011519	Anomalous trichromacy	1	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia		3
HP:0007641	HP:0011519	Anomalous trichromacy	1	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA		3
HP:0007641	HP:0011519	Anomalous trichromacy	1	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20		3
HP:0007641	HP:0011521	Deuteranopia	2	CL E G H
HP:0007641	HP:0011522	Protanopia	2	CL E G H
HP:0007641	HP:0000552	Tritanomaly	2	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040283 - Occasional	20
HP:0007641	HP:0000552	Tritanomaly	2	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5	.	94
HP:0007641	HP:0000552	Tritanomaly	2	GUCY2D CL E G H	3000	4689	OMIM:618555	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I		124
HP:0007641	HP:0000552	Tritanomaly	2	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37	.	58
HP:0007641	HP:0000552	Tritanomaly	2	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.	214
HP:0007641	HP:0000552	Tritanomaly	2	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.	214
HP:0007641	HP:0000552	Tritanomaly	2	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional	163
HP:0007641	HP:0200018	Protanomaly	2	OPN1LW CL E G H	5956	9936	OMIM:303900	Colorblindness, partial, protan series	.	7
HP:0007641	HP:0011520	Deuteranomaly	2	OPN1MW CL E G H	2652	4206	OMIM:303800	Colorblindness, partial, deutan series	.	5
HP:0007641	HP:0000552	Tritanomaly	2	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA	.	3
HP:0007641	HP:0000552	Tritanomaly	2	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia	HP:0040282 - Frequent	3
HP:0007641	HP:0000552	Tritanomaly	2	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20		3

Genes (27) :ACO2 AFG3L2 BEST1 C1QTNF5 CEP78 CNGB3 DNM1L FGF14 GUCA1A GUCY2D IMPG1 MORC2 MTRFR NR2E3 OPA1 OPA3 OPN1LW OPN1MW OPN1SW PDE6C PDE6H POC1B POLG PROM1 PRPH2 TK2 TMEM126A

Diseases (29) :OMIM:616289 OMIM:618977 OMIM:193220 ORPHA:67042 OMIM:617236 OMIM:262300 OMIM:610708 ORPHA:98764 ORPHA:75377 OMIM:601777 OMIM:618555 OMIM:153870 ORPHA:466768 ORPHA:254930 OMIM:611131 OMIM:165500 OMIM:125250 ORPHA:67036 OMIM:303900 OMIM:303800 ORPHA:88629 OMIM:190900 OMIM:613093 OMIM:610024 OMIM:615973 ORPHA:254886 OMIM:258450 OMIM:608051 OMIM:612989

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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