Human Phenotype Ontology

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 autonomic nervous system physiology (HP:0012332)

Grandparent Node:
Hypotension (HP:0002615)

Parent Node:
Orthostatic hypotension (HP:0001278)

..Starting node
..Postural hypotension with compensatory tachycardia (HP:0005307)

Term ID:

5307

Name:

Postural hypotension with compensatory tachycardia

Synonym:

Definition:

Comments:

Reference:

HP:0005307

Genes and Diseases:

Child Nodes:

Sister Nodes:

Orthostatic hypotension due to autonomic dysfunction (HP:0004926)

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:0005307	HP:0005307	Postural hypotension with compensatory tachycardia	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0005307	HP:0005307	Postural hypotension with compensatory tachycardia	0	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency	HP:0040281 - Very frequent	40

Genes (2) :NTRK1 SIM1

Diseases (2) :OMIM:256800 ORPHA:369873

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