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 vascular physiology (HP:0030163)

Parent Node:
Abnormal pulse pressure (HP:0030850)

..Starting node
..Low pulse pressure (HP:0030851)

Term ID:

30851

Name:

Low pulse pressure

Synonym:

Definition:

Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).

Comments:

Reference:

HP:0030851

Genes and Diseases:

Child Nodes:

Sister Nodes:

High pulse pressure (HP:0030852)

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:0030851	HP:0030851	Low pulse pressure	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040283 - Occasional	104

Genes (1) :ALB

Diseases (1) :ORPHA:86816

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