Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- Quick-Mitome
- Quick-Mitome-Report
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome
- Disease Portal
- Disease Portal in Mondo
- HPO Ontology Browser
- NAMDC-HPO Mapping (retired)
- Expert Panel
- Clinical
- Overview
- Leigh Syndrome Resource
- PMD Virtual Registry
Collaboration
Submission

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:
Abnormal eye physiology (HP:0012373)

Parent Node:
Abnormality of vision (HP:0000504)

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

..Starting node
..Color vision defect (HP:0000551)

Term ID:

551

Name:

Color vision defect

Synonym:

Abnormal color vision; Abnormal colour vision; Abnormality of color vision; Abnormality of colour vision; Color vision defect, severe; Color vision defects; Colour vision defect; Colour vision defect, severe; Colour vision defects; Disturbed color vision; Loss in color vision; Loss in colour vision

Definition:

An anomaly in the ability to discriminate between or recognize colors.

Comments:

Reference:

HP:0000551

Genes and Diseases:

Child Nodes:

........

Dyschromatopsia (HP:0007641)

................... HP:0000642 Red-green dyschromatopsia
................... HP:0011518 Dichromacy
................... HP:0011519 Anomalous trichromacy

........

Monochromacy (HP:0007803)

................... HP:0011516 Achromatopsia
................... HP:0011517 Cone monochromacy

........

Color vision test abnormality (HP:0030584)

................... HP:0030585 Red desaturation
................... HP:0030586 Abnormal Ishihara plate test
................... HP:0030587 Abnormal Hardy-Rand-Rittler plate test

Sister Nodes:

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:0000551	HP:0000551	Color vision defect	0	ABCA4 CL E G H	24	34	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	826
HP:0000551	HP:0000551	Color vision defect	0	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3		826
HP:0000551	HP:0000551	Color vision defect	0	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	826
HP:0000551	HP:0000551	Color vision defect	0	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9		60
HP:0000551	HP:0000551	Color vision defect	0	ADAM9 CL E G H	8754	216	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	41
HP:0000551	HP:0000551	Color vision defect	0	AFG3L2 CL E G H	10939	315	OMIM:618977	OPTIC ATROPHY 12; OPA12		86
HP:0000551	HP:0000551	Color vision defect	0	AIPL1 CL E G H	23746	359	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	114
HP:0000551	HP:0000551	Color vision defect	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome		87
HP:0000551	HP:0000551	Color vision defect	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	65
HP:0000551	HP:0000551	Color vision defect	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	10
HP:0000551	HP:0000551	Color vision defect	0	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0000551	HP:0000551	Color vision defect	0	ATF6 CL E G H	22926	791	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	10
HP:0000551	HP:0000551	Color vision defect	0	BEST1 CL E G H	7439	12703	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent	182
HP:0000551	HP:0000551	Color vision defect	0	BEST1 CL E G H	7439	12703	ORPHA:1243	Best vitelliform macular dystrophy	HP:0040282 - Frequent	182
HP:0000551	HP:0000551	Color vision defect	0	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.	182
HP:0000551	HP:0000551	Color vision defect	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration		20
HP:0000551	HP:0000551	Color vision defect	0	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive	HP:0040283 - Occasional	94
HP:0000551	HP:0000551	Color vision defect	0	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	94
HP:0000551	HP:0000551	Color vision defect	0	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease	HP:0040281 - Very frequent	58
HP:0000551	HP:0000551	Color vision defect	0	CACNA1F CL E G H	778	1393	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	58
HP:0000551	HP:0000551	Color vision defect	0	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3		58
HP:0000551	HP:0000551	Color vision defect	0	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	58
HP:0000551	HP:0000551	Color vision defect	0	CACNA2D4 CL E G H	93589	20202	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	129
HP:0000551	HP:0000551	Color vision defect	0	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	129
HP:0000551	HP:0000551	Color vision defect	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000551	HP:0000551	Color vision defect	0	CDHR1 CL E G H	92211	14550	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	147
HP:0000551	HP:0000551	Color vision defect	0	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15		147
HP:0000551	HP:0000551	Color vision defect	0	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL		9
HP:0000551	HP:0000551	Color vision defect	0	CFAP410 CL E G H	755	1260	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent
HP:0000551	HP:0000551	Color vision defect	0	CFAP418 CL E G H	157657	27232	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent
HP:0000551	HP:0000551	Color vision defect	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	515
HP:0000551	HP:0000551	Color vision defect	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	82
HP:0000551	HP:0000551	Color vision defect	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0000551	HP:0000551	Color vision defect	0	CNGA3 CL E G H	1261	2150	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	82
HP:0000551	HP:0000551	Color vision defect	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	194
HP:0000551	HP:0000551	Color vision defect	0	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3		194
HP:0000551	HP:0000551	Color vision defect	0	CNGB3 CL E G H	54714	2153	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent	194
HP:0000551	HP:0000551	Color vision defect	0	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	194
HP:0000551	HP:0000551	Color vision defect	0	CNNM4 CL E G H	26504	105	ORPHA:1873	Jalili syndrome	HP:0040281 - Very frequent	61
HP:0000551	HP:0000551	Color vision defect	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome		61
HP:0000551	HP:0000551	Color vision defect	0	CRX CL E G H	1406	2383	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	158
HP:0000551	HP:0000551	Color vision defect	0	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2		158
HP:0000551	HP:0000551	Color vision defect	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040283 - Occasional	126
HP:0000551	HP:0000551	Color vision defect	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	36
HP:0000551	HP:0000551	Color vision defect	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0000551	HP:0000551	Color vision defect	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent	94
HP:0000551	HP:0000551	Color vision defect	0	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5		94
HP:0000551	HP:0000551	Color vision defect	0	DRAM2 CL E G H	128338	28769	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	9
HP:0000551	HP:0000551	Color vision defect	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	4
HP:0000551	HP:0000551	Color vision defect	0	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	62
HP:0000551	HP:0000551	Color vision defect	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration		76
HP:0000551	HP:0000551	Color vision defect	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	2
HP:0000551	HP:0000551	Color vision defect	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27		47
HP:0000551	HP:0000551	Color vision defect	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	3
HP:0000551	HP:0000551	Color vision defect	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	17
HP:0000551	HP:0000551	Color vision defect	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	172
HP:0000551	HP:0000551	Color vision defect	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	4
HP:0000551	HP:0000551	Color vision defect	0	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	39
HP:0000551	HP:0000551	Color vision defect	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	19
HP:0000551	HP:0000551	Color vision defect	0	GNAT2 CL E G H	2780	4394	OMIM:613856	ACHROMATOPSIA 4; ACHM4		19
HP:0000551	HP:0000551	Color vision defect	0	GNAT2 CL E G H	2780	4394	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent	19
HP:0000551	HP:0000551	Color vision defect	0	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	5
HP:0000551	HP:0000551	Color vision defect	0	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	124
HP:0000551	HP:0000551	Color vision defect	0	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	4
HP:0000551	HP:0000551	Color vision defect	0	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	63
HP:0000551	HP:0000551	Color vision defect	0	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy		24
HP:0000551	HP:0000551	Color vision defect	0	GUCA1A CL E G H	2978	4678	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	24
HP:0000551	HP:0000551	Color vision defect	0	GUCA1A CL E G H	2978	4678	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent	24
HP:0000551	HP:0000551	Color vision defect	0	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy		124
HP:0000551	HP:0000551	Color vision defect	0	GUCY2D CL E G H	3000	4689	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	124
HP:0000551	HP:0000551	Color vision defect	0	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6		124
HP:0000551	HP:0000551	Color vision defect	0	GUCY2D CL E G H	3000	4689	OMIM:618555	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I		124
HP:0000551	HP:0000551	Color vision defect	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	21
HP:0000551	HP:0000551	Color vision defect	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	8
HP:0000551	HP:0000551	Color vision defect	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	39
HP:0000551	HP:0000551	Color vision defect	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	9
HP:0000551	HP:0000551	Color vision defect	0	IMPG1 CL E G H	3617	6055	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent	4
HP:0000551	HP:0000551	Color vision defect	0	IMPG1 CL E G H	3617	6055	OMIM:153870	Macular dystrophy, concentric annular		4
HP:0000551	HP:0000551	Color vision defect	0	IMPG2 CL E G H	50939	18362	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent	120
HP:0000551	HP:0000551	Color vision defect	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	70
HP:0000551	HP:0000551	Color vision defect	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	62
HP:0000551	HP:0000551	Color vision defect	0	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	54
HP:0000551	HP:0000551	Color vision defect	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0000551	HP:0000551	Color vision defect	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.	203
HP:0000551	HP:0000551	Color vision defect	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0000551	HP:0000551	Color vision defect	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0000551	HP:0000551	Color vision defect	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent	81
HP:0000551	HP:0000551	Color vision defect	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0000551	HP:0000551	Color vision defect	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000551	HP:0000551	Color vision defect	0	NMNAT1 CL E G H	64802	17877	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	15
HP:0000551	HP:0000551	Color vision defect	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0000551	HP:0000551	Color vision defect	0	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37		58
HP:0000551	HP:0000551	Color vision defect	0	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	42
HP:0000551	HP:0000551	Color vision defect	0	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23	.	201
HP:0000551	HP:0000551	Color vision defect	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent	214
HP:0000551	HP:0000551	Color vision defect	0	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1		214
HP:0000551	HP:0000551	Color vision defect	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy		214
HP:0000551	HP:0000551	Color vision defect	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract		163
HP:0000551	HP:0000551	Color vision defect	0	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy		7
HP:0000551	HP:0000551	Color vision defect	0	OPN1LW CL E G H	5956	9936	ORPHA:16	Blue cone monochromatism		7
HP:0000551	HP:0000551	Color vision defect	0	OPN1LW CL E G H	5956	9936	OMIM:303900	Colorblindness, partial, protan series		7
HP:0000551	HP:0000551	Color vision defect	0	OPN1LW CL E G H	5956	9936	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	7
HP:0000551	HP:0000551	Color vision defect	0	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy		5
HP:0000551	HP:0000551	Color vision defect	0	OPN1MW CL E G H	2652	4206	ORPHA:16	Blue cone monochromatism		5
HP:0000551	HP:0000551	Color vision defect	0	OPN1MW CL E G H	2652	4206	OMIM:303800	Colorblindness, partial, deutan series		5
HP:0000551	HP:0000551	Color vision defect	0	OPN1MW CL E G H	2652	4206	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	5
HP:0000551	HP:0000551	Color vision defect	0	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia		3
HP:0000551	HP:0000551	Color vision defect	0	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA		3
HP:0000551	HP:0000551	Color vision defect	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	23
HP:0000551	HP:0000551	Color vision defect	0	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	126
HP:0000551	HP:0000551	Color vision defect	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	80
HP:0000551	HP:0000551	Color vision defect	0	PDE6C CL E G H	5146	8787	OMIM:613093	Cone dystrophy 4		80
HP:0000551	HP:0000551	Color vision defect	0	PDE6C CL E G H	5146	8787	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent	80
HP:0000551	HP:0000551	Color vision defect	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	14
HP:0000551	HP:0000551	Color vision defect	0	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A		14
HP:0000551	HP:0000551	Color vision defect	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	55
HP:0000551	HP:0000551	Color vision defect	0	PITPNM3 CL E G H	83394	21043	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	135
HP:0000551	HP:0000551	Color vision defect	0	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5	.	135
HP:0000551	HP:0000551	Color vision defect	0	POC1B CL E G H	282809	30836	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	3
HP:0000551	HP:0000551	Color vision defect	0	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20	.	3
HP:0000551	HP:0000551	Color vision defect	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0000551	HP:0000551	Color vision defect	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		464
HP:0000551	HP:0000551	Color vision defect	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0000551	HP:0000551	Color vision defect	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	138
HP:0000551	HP:0000551	Color vision defect	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	9
HP:0000551	HP:0000551	Color vision defect	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	34
HP:0000551	HP:0000551	Color vision defect	0	PROM1 CL E G H	8842	9454	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	110
HP:0000551	HP:0000551	Color vision defect	0	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12		110
HP:0000551	HP:0000551	Color vision defect	0	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2		110
HP:0000551	HP:0000551	Color vision defect	0	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	110
HP:0000551	HP:0000551	Color vision defect	0	PRPH2 CL E G H	5961	9942	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent	159
HP:0000551	HP:0000551	Color vision defect	0	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy		159
HP:0000551	HP:0000551	Color vision defect	0	PRPH2 CL E G H	5961	9942	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	159
HP:0000551	HP:0000551	Color vision defect	0	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	159
HP:0000551	HP:0000551	Color vision defect	0	RAB28 CL E G H	9364	9768	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	6
HP:0000551	HP:0000551	Color vision defect	0	RAX2 CL E G H	84839	18286	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	52
HP:0000551	HP:0000551	Color vision defect	0	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	107
HP:0000551	HP:0000551	Color vision defect	0	RIMS1 CL E G H	22999	17282	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	102
HP:0000551	HP:0000551	Color vision defect	0	RIMS1 CL E G H	22999	17282	OMIM:603649	CONE-ROD DYSTROPHY 7; CORD7		102
HP:0000551	HP:0000551	Color vision defect	0	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040281 - Very frequent	47
HP:0000551	HP:0000551	Color vision defect	0	RLBP1 CL E G H	6017	10024	OMIM:607476	NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD		47
HP:0000551	HP:0000551	Color vision defect	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	129
HP:0000551	HP:0000551	Color vision defect	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	200
HP:0000551	HP:0000551	Color vision defect	0	RPGR CL E G H	6103	10295	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	200
HP:0000551	HP:0000551	Color vision defect	0	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1		200
HP:0000551	HP:0000551	Color vision defect	0	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3		200
HP:0000551	HP:0000551	Color vision defect	0	RPGRIP1 CL E G H	57096	13436	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	109
HP:0000551	HP:0000551	Color vision defect	0	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13		109
HP:0000551	HP:0000551	Color vision defect	0	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10		2
HP:0000551	HP:0000551	Color vision defect	0	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	32
HP:0000551	HP:0000551	Color vision defect	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	14
HP:0000551	HP:0000551	Color vision defect	0	SEMA4A CL E G H	64218	10729	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	48
HP:0000551	HP:0000551	Color vision defect	0	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	66
HP:0000551	HP:0000551	Color vision defect	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0000551	HP:0000551	Color vision defect	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	61
HP:0000551	HP:0000551	Color vision defect	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	48
HP:0000551	HP:0000551	Color vision defect	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	5
HP:0000551	HP:0000551	Color vision defect	0	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	9
HP:0000551	HP:0000551	Color vision defect	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	34
HP:0000551	HP:0000551	Color vision defect	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional	15
HP:0000551	HP:0000551	Color vision defect	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		103
HP:0000551	HP:0000551	Color vision defect	0	TLCD3B CL E G H	83723	25295	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent
HP:0000551	HP:0000551	Color vision defect	0	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy		23
HP:0000551	HP:0000551	Color vision defect	0	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare	104
HP:0000551	HP:0000551	Color vision defect	0	TTLL5 CL E G H	23093	19963	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	9
HP:0000551	HP:0000551	Color vision defect	0	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15	.	66
HP:0000551	HP:0000551	Color vision defect	0	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	21
HP:0000551	HP:0000551	Color vision defect	0	UNC119 CL E G H	9094	12565	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent	30
HP:0000551	HP:0000551	Color vision defect	0	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0000551	HP:0000551	Color vision defect	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	10
HP:0000551	HP:0007641	Dyschromatopsia	1	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9		60
HP:0000551	HP:0007641	Dyschromatopsia	1	AFG3L2 CL E G H	10939	315	OMIM:618977	OPTIC ATROPHY 12; OPA12		86
HP:0000551	HP:0030584	Color vision test abnormality	1	AFG3L2 CL E G H	10939	315	OMIM:618977	OPTIC ATROPHY 12; OPA12		86
HP:0000551	HP:0007803	Monochromacy	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	10
HP:0000551	HP:0030584	Color vision test abnormality	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	10
HP:0000551	HP:0007803	Monochromacy	1	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0000551	HP:0007641	Dyschromatopsia	1	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	HP:0040283 - Occasional	182
HP:0000551	HP:0007641	Dyschromatopsia	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration		20
HP:0000551	HP:0007641	Dyschromatopsia	1	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL		9
HP:0000551	HP:0007803	Monochromacy	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	82
HP:0000551	HP:0030584	Color vision test abnormality	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	82
HP:0000551	HP:0007803	Monochromacy	1	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0000551	HP:0007803	Monochromacy	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	194
HP:0000551	HP:0030584	Color vision test abnormality	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	194
HP:0000551	HP:0007803	Monochromacy	1	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3	.	194
HP:0000551	HP:0007641	Dyschromatopsia	1	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3	.	194
HP:0000551	HP:0007803	Monochromacy	1	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome	.	61
HP:0000551	HP:0007641	Dyschromatopsia	1	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5		94
HP:0000551	HP:0030584	Color vision test abnormality	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent	76
HP:0000551	HP:0007641	Dyschromatopsia	1	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27		47
HP:0000551	HP:0007803	Monochromacy	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	19
HP:0000551	HP:0030584	Color vision test abnormality	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	19
HP:0000551	HP:0007803	Monochromacy	1	GNAT2 CL E G H	2780	4394	OMIM:613856	ACHROMATOPSIA 4; ACHM4		19
HP:0000551	HP:0007641	Dyschromatopsia	1	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040284 - Very rare	24
HP:0000551	HP:0007641	Dyschromatopsia	1	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040284 - Very rare	124
HP:0000551	HP:0007641	Dyschromatopsia	1	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6		124
HP:0000551	HP:0007641	Dyschromatopsia	1	GUCY2D CL E G H	3000	4689	OMIM:618555	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I		124
HP:0000551	HP:0007641	Dyschromatopsia	1	IMPG1 CL E G H	3617	6055	OMIM:153870	Macular dystrophy, concentric annular	.	4
HP:0000551	HP:0007641	Dyschromatopsia	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional	8
HP:0000551	HP:0007641	Dyschromatopsia	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0000551	HP:0007803	Monochromacy	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0000551	HP:0007641	Dyschromatopsia	1	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37		58
HP:0000551	HP:0007641	Dyschromatopsia	1	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1		214
HP:0000551	HP:0007641	Dyschromatopsia	1	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy		214
HP:0000551	HP:0007641	Dyschromatopsia	1	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract		163
HP:0000551	HP:0007803	Monochromacy	1	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy		7
HP:0000551	HP:0007803	Monochromacy	1	OPN1LW CL E G H	5956	9936	ORPHA:16	Blue cone monochromatism		7
HP:0000551	HP:0007641	Dyschromatopsia	1	OPN1LW CL E G H	5956	9936	OMIM:303900	Colorblindness, partial, protan series		7
HP:0000551	HP:0007803	Monochromacy	1	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy		5
HP:0000551	HP:0007803	Monochromacy	1	OPN1MW CL E G H	2652	4206	ORPHA:16	Blue cone monochromatism		5
HP:0000551	HP:0007641	Dyschromatopsia	1	OPN1MW CL E G H	2652	4206	OMIM:303800	Colorblindness, partial, deutan series		5
HP:0000551	HP:0030584	Color vision test abnormality	1	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia	HP:0040282 - Frequent	3
HP:0000551	HP:0007641	Dyschromatopsia	1	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia		3
HP:0000551	HP:0007641	Dyschromatopsia	1	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA		3
HP:0000551	HP:0030584	Color vision test abnormality	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	80
HP:0000551	HP:0007803	Monochromacy	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	80
HP:0000551	HP:0007641	Dyschromatopsia	1	PDE6C CL E G H	5146	8787	OMIM:613093	Cone dystrophy 4	.	80
HP:0000551	HP:0007803	Monochromacy	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	14
HP:0000551	HP:0030584	Color vision test abnormality	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	14
HP:0000551	HP:0007641	Dyschromatopsia	1	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A	.	14
HP:0000551	HP:0007641	Dyschromatopsia	1	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20		3
HP:0000551	HP:0007641	Dyschromatopsia	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0000551	HP:0007641	Dyschromatopsia	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	HP:0040283 - Occasional	464
HP:0000551	HP:0007641	Dyschromatopsia	1	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2	.	110
HP:0000551	HP:0007641	Dyschromatopsia	1	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040284 - Very rare	159
HP:0000551	HP:0007803	Monochromacy	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	200
HP:0000551	HP:0030584	Color vision test abnormality	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	200
HP:0000551	HP:0007641	Dyschromatopsia	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	103
HP:0000551	HP:0007641	Dyschromatopsia	1	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy	.	23
HP:0000551	HP:0030587	Abnormal Hardy-Rand-Rittler plate test	2	CL E G H
HP:0000551	HP:0030585	Red desaturation	2	CL E G H
HP:0000551	HP:0011518	Dichromacy	2	CL E G H
HP:0000551	HP:0000642	Red-green dyschromatopsia	2	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9	.	60
HP:0000551	HP:0030586	Abnormal Ishihara plate test	2	AFG3L2 CL E G H	10939	315	OMIM:618977	OPTIC ATROPHY 12; OPA12		86
HP:0000551	HP:0011516	Achromatopsia	2	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0000551	HP:0011519	Anomalous trichromacy	2	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration		20
HP:0000551	HP:0000642	Red-green dyschromatopsia	2	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040283 - Occasional	20
HP:0000551	HP:0011516	Achromatopsia	2	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2	.	82
HP:0000551	HP:0011516	Achromatopsia	2	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3	.	194
HP:0000551	HP:0011519	Anomalous trichromacy	2	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5		94
HP:0000551	HP:0000642	Red-green dyschromatopsia	2	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040283 - Occasional	47
HP:0000551	HP:0011516	Achromatopsia	2	GNAT2 CL E G H	2780	4394	OMIM:613856	ACHROMATOPSIA 4; ACHM4		19
HP:0000551	HP:0011519	Anomalous trichromacy	2	GUCY2D CL E G H	3000	4689	OMIM:618555	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I		124
HP:0000551	HP:0011516	Achromatopsia	2	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.	25
HP:0000551	HP:0011519	Anomalous trichromacy	2	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37		58
HP:0000551	HP:0000642	Red-green dyschromatopsia	2	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37	.	58
HP:0000551	HP:0000642	Red-green dyschromatopsia	2	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.	214
HP:0000551	HP:0011519	Anomalous trichromacy	2	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1		214
HP:0000551	HP:0011519	Anomalous trichromacy	2	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy		214
HP:0000551	HP:0000642	Red-green dyschromatopsia	2	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.	214
HP:0000551	HP:0011519	Anomalous trichromacy	2	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract		163
HP:0000551	HP:0000642	Red-green dyschromatopsia	2	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional	163
HP:0000551	HP:0011517	Cone monochromacy	2	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy		7
HP:0000551	HP:0011517	Cone monochromacy	2	OPN1LW CL E G H	5956	9936	ORPHA:16	Blue cone monochromatism		7
HP:0000551	HP:0011519	Anomalous trichromacy	2	OPN1LW CL E G H	5956	9936	OMIM:303900	Colorblindness, partial, protan series		7
HP:0000551	HP:0000642	Red-green dyschromatopsia	2	OPN1LW CL E G H	5956	9936	OMIM:303900	Colorblindness, partial, protan series		7
HP:0000551	HP:0011517	Cone monochromacy	2	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy		5
HP:0000551	HP:0011517	Cone monochromacy	2	OPN1MW CL E G H	2652	4206	ORPHA:16	Blue cone monochromatism		5
HP:0000551	HP:0000642	Red-green dyschromatopsia	2	OPN1MW CL E G H	2652	4206	OMIM:303800	Colorblindness, partial, deutan series		5
HP:0000551	HP:0011519	Anomalous trichromacy	2	OPN1MW CL E G H	2652	4206	OMIM:303800	Colorblindness, partial, deutan series		5
HP:0000551	HP:0011519	Anomalous trichromacy	2	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA		3
HP:0000551	HP:0011519	Anomalous trichromacy	2	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia		3
HP:0000551	HP:0011519	Anomalous trichromacy	2	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20		3
HP:0000551	HP:0011522	Protanopia	3	CL E G H
HP:0000551	HP:0011521	Deuteranopia	3	CL E G H
HP:0000551	HP:0000552	Tritanomaly	3	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040283 - Occasional	20
HP:0000551	HP:0000552	Tritanomaly	3	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5	.	94
HP:0000551	HP:0000552	Tritanomaly	3	GUCY2D CL E G H	3000	4689	OMIM:618555	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I		124
HP:0000551	HP:0000552	Tritanomaly	3	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37	.	58
HP:0000551	HP:0000552	Tritanomaly	3	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.	214
HP:0000551	HP:0000552	Tritanomaly	3	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.	214
HP:0000551	HP:0000552	Tritanomaly	3	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional	163
HP:0000551	HP:0007939	Blue cone monochromacy	3	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy	.	7
HP:0000551	HP:0007939	Blue cone monochromacy	3	OPN1LW CL E G H	5956	9936	ORPHA:16	Blue cone monochromatism	HP:0040281 - Very frequent	7
HP:0000551	HP:0200018	Protanomaly	3	OPN1LW CL E G H	5956	9936	OMIM:303900	Colorblindness, partial, protan series	.	7
HP:0000551	HP:0007939	Blue cone monochromacy	3	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy	.	5
HP:0000551	HP:0007939	Blue cone monochromacy	3	OPN1MW CL E G H	2652	4206	ORPHA:16	Blue cone monochromatism	HP:0040281 - Very frequent	5
HP:0000551	HP:0011520	Deuteranomaly	3	OPN1MW CL E G H	2652	4206	OMIM:303800	Colorblindness, partial, deutan series	.	5
HP:0000551	HP:0000552	Tritanomaly	3	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia	HP:0040282 - Frequent	3
HP:0000551	HP:0000552	Tritanomaly	3	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA	.	3
HP:0000551	HP:0000552	Tritanomaly	3	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20		3

Genes (114) :ABCA4 ACO2 ADAM9 AFG3L2 AIPL1 ALDH3A2 ANOS1 ATF6 BEST1 C1QTNF5 CABP4 CACNA1F CACNA2D4 CCDC141 CDHR1 CEP78 CFAP410 CFAP418 CHD7 CNGA3 CNGB3 CNNM4 CRX CYP4V2 DCC DNAJC6 DNM1L DRAM2 DUSP6 ELOVL4 FA2H FEZF1 FGF14 FGF17 FGF8 FGFR1 FLRT3 GNAT1 GNAT2 GNB3 GPR179 GRK1 GRM6 GUCA1A GUCY2D HESX1 HS6ST1 HTRA2 IL17RD IMPG1 IMPG2 LCA5 LRAT LRIT3 LRRK2 MFN2 MORC2 MTRFR MTTP NBAS NDNF NMNAT1 NR2E3 NYX OFD1 OPA1 OPA3 OPN1LW OPN1MW OPN1SW PARK7 PDE6B PDE6C PDE6H PINK1 PITPNM3 POC1B PODXL POLG PRKN PROK2 PROKR2 PROM1 PRPH2 RAB28 RAX2 RHO RIMS1 RLBP1 RPE65 RPGR RPGRIP1 RTN4IP1 SAG SEMA3A SEMA4A SLC24A1 SNCA SOX10 SPATA7 SPRY4 SYNJ1 TACR3 TIMM8A TK2 TLCD3B TMEM126A TRPM1 TTLL5 TULP1 UCHL1 UNC119 VPS13C WDR11

Diseases (72) :ORPHA:1872 OMIM:604116 ORPHA:827 OMIM:616289 OMIM:618977 OMIM:270200 ORPHA:478 ORPHA:49382 OMIM:616517 ORPHA:99000 ORPHA:1243 OMIM:193220 ORPHA:67042 OMIM:610427 ORPHA:215 ORPHA:178333 OMIM:300476 OMIM:613660 OMIM:617236 OMIM:216900 OMIM:262300 ORPHA:1871 ORPHA:1873 OMIM:217080 OMIM:120970 ORPHA:41751 ORPHA:2828 ORPHA:98673 OMIM:610708 ORPHA:329308 ORPHA:98764 OMIM:613856 ORPHA:75377 OMIM:601777 OMIM:618555 OMIM:153870 ORPHA:364055 OMIM:601152 ORPHA:466768 ORPHA:254930 ORPHA:14 OMIM:614800 OMIM:608553 OMIM:611131 OMIM:300424 OMIM:165500 OMIM:125250 ORPHA:67036 OMIM:303700 ORPHA:16 OMIM:303900 OMIM:303800 ORPHA:88629 OMIM:190900 OMIM:613093 OMIM:610024 OMIM:600977 OMIM:615973 ORPHA:254886 OMIM:258450 OMIM:612657 OMIM:608051 OMIM:603649 ORPHA:85128 OMIM:607476 OMIM:304020 OMIM:300029 OMIM:608194 OMIM:616732 ORPHA:52368 OMIM:612989 OMIM:613843

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen