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:
Headache (HP:0002315)

Parent Node:
Migraine (HP:0002076)

..Starting node
..Migraine without aura (HP:0002083)

Term ID:

2083

Name:

Migraine without aura

Synonym:

Definition:

Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia.

Comments:

Reference:

HP:0002083

Genes and Diseases:

Child Nodes:

Sister Nodes:

Migraine with aura (HP:0002077)

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:0002083	HP:0002083	Migraine without aura	0	CSNK1D CL E G H	1453	2452	OMIM:615224	Advanced sleep phase syndrome, familial, 2		2
HP:0002083	HP:0002083	Migraine without aura	0	EDNRA CL E G H	1909	3179	OMIM:157300	Migraine with or without aura, susceptibility to, 1	.	3
HP:0002083	HP:0002083	Migraine without aura	0	ESR1 CL E G H	2099	3467	OMIM:157300	Migraine with or without aura, susceptibility to, 1	.	13
HP:0002083	HP:0002083	Migraine without aura	0	KCNK18 CL E G H	338567	19439	OMIM:613656	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; MGR13		4
HP:0002083	HP:0002083	Migraine without aura	0	TNF CL E G H	7124	11892	OMIM:157300	Migraine with or without aura, susceptibility to, 1	.	7
HP:0002083	HP:0002083	Migraine without aura	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional	56

Genes (6) :CSNK1D EDNRA ESR1 KCNK18 TNF TREX1

Diseases (4) :OMIM:615224 OMIM:157300 OMIM:613656 ORPHA:247691

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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