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)

Grandparent Node:
Abnormality of the vasculature (HP:0002597)

Parent Node:
Abnormal vascular physiology (HP:0030163)

..Starting node
..Abnormal pulse pressure (HP:0030850)

Term ID:

30850

Name:

Abnormal pulse pressure

Synonym:

Definition:

An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure.

Comments:

Reference:

HP:0030850

Genes and Diseases:

Child Nodes:

........

Low pulse pressure (HP:0030851)

........

High pulse pressure (HP:0030852)

Sister Nodes:

Abnormal arterial physiology (HP:0025323)

Abnormal capillary physiology (HP:0025018)

Abnormality of pulmonary circulation (HP:0030875)

Abnormality of venous physiology (HP:0030846)

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:0030850	HP:0030850	Abnormal pulse pressure	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia		104
HP:0030850	HP:0030850	Abnormal pulse pressure	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040282 - Frequent	1200
HP:0030850	HP:0030852	High pulse pressure	1	CL E G H
HP:0030850	HP:0030851	Low pulse pressure	1	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040283 - Occasional	104

Genes (2) :ALB RYR1

Diseases (2) :ORPHA:86816 ORPHA:466650

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