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:
Abnormal eye physiology (HP:0012373)

Parent Node:
Abnormality of vision (HP:0000504)

..Starting node
..Hemeralopia (HP:0012047)

Term ID:

12047

Name:

Hemeralopia

Synonym:

Day blindness

Definition:

A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.

Comments:

Reference:

HP:0012047

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of binocular vision (HP:0011514)

Amaurosis fugax (HP:0100576)

Blurred vision (HP:0000622)

Bradyopsia (HP:0030511)

Color vision defect (HP:0000551)

Difficulty adjusting to changes in luminance (HP:0030512)

Metamorphopsia (HP:0012508)

Nyctalopia (HP:0000662)

Photophobia (HP:0000613)

Photopsia (HP:0030786)

Poor visual behavior for age (HP:0025152)

Reduced visual acuity (HP:0007663)

Visual field defect (HP:0001123)

Visual impairment (HP:0000505)

Visual loss (HP:0000572)

Vitreous floaters (HP:0100832)

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:0012047	HP:0012047	Hemeralopia	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040283 - Occasional	8
HP:0012047	HP:0012047	Hemeralopia	0	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL		9
HP:0012047	HP:0012047	Hemeralopia	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2	.	82
HP:0012047	HP:0012047	Hemeralopia	0	GRM6 CL E G H	2916	4598	OMIM:257270	Night blindness, congenital stationary, type 1B	.	63
HP:0012047	HP:0012047	Hemeralopia	0	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.	124
HP:0012047	HP:0012047	Hemeralopia	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0012047	HP:0012047	Hemeralopia	0	NR2E3 CL E G H	10002	7974	OMIM:268100	Enhanced S-cone syndrome	.	58
HP:0012047	HP:0012047	Hemeralopia	0	NYX CL E G H	60506	8082	OMIM:310500	Night blindness, congenital stationary, type 1A	.	42
HP:0012047	HP:0012047	Hemeralopia	0	SAG CL E G H	6295	10521	OMIM:258100	Oguchi disease 1	.	32

Genes (9) :ATXN7 CEP78 CNGA3 GRM6 GUCY2D IFT172 NR2E3 NYX SAG

Diseases (9) :ORPHA:94147 OMIM:617236 OMIM:216900 OMIM:257270 OMIM:601777 OMIM:619471 OMIM:268100 OMIM:310500 OMIM:258100

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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