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 systemic blood pressure (HP:0030972)

Parent Node:
Hypotension (HP:0002615)

..Starting node
..Low-to-normal blood pressure (HP:0002632)

Term ID:

2632

Name:

Low-to-normal blood pressure

Synonym:

Low-to-normal blood pressure; Low-to-normal BP

Definition:

Comments:

Reference:

HP:0002632

Genes and Diseases:

Child Nodes:

Sister Nodes:

Orthostatic hypotension (HP:0001278)

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:0002632	HP:0002632	Low-to-normal blood pressure	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040282 - Frequent	27
HP:0002632	HP:0002632	Low-to-normal blood pressure	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0002632	HP:0002632	Low-to-normal blood pressure	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0002632	HP:0002632	Low-to-normal blood pressure	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040282 - Frequent	145

Genes (4) :CLCNKB KCNJ1 SLC12A1 SLC12A3

Diseases (3) :ORPHA:358 OMIM:241200 OMIM:601678

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