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)

Parent Node:
Blurred vision (HP:0000622)

..Starting node
..Transient unilateral blurring of vision (HP:0001125)

Term ID:

1125

Name:

Transient unilateral blurring of vision

Synonym:

Hemianopic blurring; Hemianoptic blurring of vision; Transient unilateral blurred vision

Definition:

Transient blurring of vision associated with the aura phase of migraine.

Comments:

Reference:

HP:0001125

Genes and Diseases:

Child Nodes:

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:0001125	HP:0001125	Transient unilateral blurring of vision	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.	239
HP:0001125	HP:0001125	Transient unilateral blurring of vision	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1	.	449

Genes (2) :ATP1A2 CACNA1A

Diseases (2) :OMIM:602481 OMIM:141500

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