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:
Abnormal eye physiology (HP:0012373)

Parent Node:
Abnormality of vision (HP:0000504)

..Starting node
..Photopsia (HP:0030786)

Term ID:

30786

Name:

Photopsia

Synonym:

Definition:

Perceived flashes of light.

Comments:

Reference:

HP:0030786

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)

Hemeralopia (HP:0012047)

Metamorphopsia (HP:0012508)

Nyctalopia (HP:0000662)

Photophobia (HP:0000613)

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:0030786	HP:0030786	Photopsia	0	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78	.	6
HP:0030786	HP:0030786	Photopsia	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	239
HP:0030786	HP:0030786	Photopsia	0	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional	184
HP:0030786	HP:0030786	Photopsia	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	449
HP:0030786	HP:0030786	Photopsia	0	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional	1
HP:0030786	HP:0030786	Photopsia	0	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional	16
HP:0030786	HP:0030786	Photopsia	0	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional	7
HP:0030786	HP:0030786	Photopsia	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	94
HP:0030786	HP:0030786	Photopsia	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	1053
HP:0030786	HP:0030786	Photopsia	0	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional	19

Genes (10) :ARHGEF18 ATP1A2 BAP1 CACNA1A CYSLTR2 GNA11 GNAQ PRRT2 SCN1A SF3B1

Diseases (3) :OMIM:617433 ORPHA:569 ORPHA:39044

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