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:
Abnormality of vision (HP:0000504)

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

Parent Node:
Color vision defect (HP:0000551)

..Starting node
..Monochromacy (HP:0007803)

Term ID:

7803

Name:

Monochromacy

Synonym:

Complete achromatopsia; Total colorblindness

Definition:

Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.

Comments:

Reference:

HP:0007803

Genes and Diseases:

Child Nodes:

........

Achromatopsia (HP:0011516)

........

Cone monochromacy (HP:0011517)

................... HP:0007939 Blue cone monochromacy

Sister Nodes:

Color vision test abnormality (HP:0030584)

Dyschromatopsia (HP:0007641)

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:0007803	HP:0007803	Monochromacy	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	10
HP:0007803	HP:0007803	Monochromacy	0	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0007803	HP:0007803	Monochromacy	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	82
HP:0007803	HP:0007803	Monochromacy	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0007803	HP:0007803	Monochromacy	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	194
HP:0007803	HP:0007803	Monochromacy	0	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3	.	194
HP:0007803	HP:0007803	Monochromacy	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome	.	61
HP:0007803	HP:0007803	Monochromacy	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	19
HP:0007803	HP:0007803	Monochromacy	0	GNAT2 CL E G H	2780	4394	OMIM:613856	ACHROMATOPSIA 4; ACHM4		19
HP:0007803	HP:0007803	Monochromacy	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0007803	HP:0007803	Monochromacy	0	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy		7
HP:0007803	HP:0007803	Monochromacy	0	OPN1LW CL E G H	5956	9936	ORPHA:16	Blue cone monochromatism		7
HP:0007803	HP:0007803	Monochromacy	0	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy		5
HP:0007803	HP:0007803	Monochromacy	0	OPN1MW CL E G H	2652	4206	ORPHA:16	Blue cone monochromatism		5
HP:0007803	HP:0007803	Monochromacy	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	80
HP:0007803	HP:0007803	Monochromacy	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	14
HP:0007803	HP:0007803	Monochromacy	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	200
HP:0007803	HP:0011516	Achromatopsia	1	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0007803	HP:0011516	Achromatopsia	1	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2	.	82
HP:0007803	HP:0011516	Achromatopsia	1	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3	.	194
HP:0007803	HP:0011516	Achromatopsia	1	GNAT2 CL E G H	2780	4394	OMIM:613856	ACHROMATOPSIA 4; ACHM4		19
HP:0007803	HP:0011516	Achromatopsia	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.	25
HP:0007803	HP:0011517	Cone monochromacy	1	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy		7
HP:0007803	HP:0011517	Cone monochromacy	1	OPN1LW CL E G H	5956	9936	ORPHA:16	Blue cone monochromatism		7
HP:0007803	HP:0011517	Cone monochromacy	1	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy		5
HP:0007803	HP:0011517	Cone monochromacy	1	OPN1MW CL E G H	2652	4206	ORPHA:16	Blue cone monochromatism		5
HP:0007803	HP:0007939	Blue cone monochromacy	2	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy	.	7
HP:0007803	HP:0007939	Blue cone monochromacy	2	OPN1LW CL E G H	5956	9936	ORPHA:16	Blue cone monochromatism	HP:0040281 - Very frequent	7
HP:0007803	HP:0007939	Blue cone monochromacy	2	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy	.	5
HP:0007803	HP:0007939	Blue cone monochromacy	2	OPN1MW CL E G H	2652	4206	ORPHA:16	Blue cone monochromatism	HP:0040281 - Very frequent	5

Genes (11) :ATF6 CNGA3 CNGB3 CNNM4 GNAT2 NBAS OPN1LW OPN1MW PDE6C PDE6H RPGR

Diseases (9) :ORPHA:49382 OMIM:616517 OMIM:216900 OMIM:262300 OMIM:217080 OMIM:613856 OMIM:614800 OMIM:303700 ORPHA:16

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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