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 cardiovascular system physiology (HP:0011025)

Parent Node:
Syncope (HP:0001279)

..Starting node
..Orthostatic syncope (HP:0012670)

Term ID:

12670

Name:

Orthostatic syncope

Synonym:

Definition:

Syncope following a quick change in position from lying down to standing.

Comments:

Reference:

HP:0012670

Genes and Diseases:

Child Nodes:

Sister Nodes:

Carotid sinus syncope (HP:0012669)

Vasovagal syncope (HP:0012668)

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:0012670	HP:0012670	Orthostatic syncope	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent	54
HP:0012670	HP:0012670	Orthostatic syncope	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent	54
HP:0012670	HP:0012670	Orthostatic syncope	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040283 - Occasional	80

Genes (2) :COQ2 DBH

Diseases (3) :ORPHA:227510 ORPHA:98933 ORPHA:230

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