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 respiratory system physiology (HP:0002795)

Grandparent Node:
Abnormal vascular physiology (HP:0030163)

Parent Node:
Abnormality of pulmonary circulation (HP:0030875)

..Starting node
..Increased pulmonary vascular resistance (HP:0005317)

Term ID:

5317

Name:

Increased pulmonary vascular resistance

Synonym:

Definition:

Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units.

Comments:

Reference:

HP:0005317

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated pulmonary artery pressure (HP:0004890)

Increased pulmonary capillary wedge pressure (HP:0030876)

Intrapulmonary shunt (HP:0031225)

Pulmonary embolism (HP:0002204)

Pulmonary venous hypertension (HP:0030950)

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:0005317	HP:0005317	Increased pulmonary vascular resistance	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	208
HP:0005317	HP:0005317	Increased pulmonary vascular resistance	0	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0005317	HP:0005317	Increased pulmonary vascular resistance	0	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3	.	11
HP:0005317	HP:0005317	Increased pulmonary vascular resistance	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	5
HP:0005317	HP:0005317	Increased pulmonary vascular resistance	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	87
HP:0005317	HP:0005317	Increased pulmonary vascular resistance	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	37
HP:0005317	HP:0005317	Increased pulmonary vascular resistance	0	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4	.	7
HP:0005317	HP:0005317	Increased pulmonary vascular resistance	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	452
HP:0005317	HP:0005317	Increased pulmonary vascular resistance	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	90
HP:0005317	HP:0005317	Increased pulmonary vascular resistance	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040282 - Frequent	7
HP:0005317	HP:0005317	Increased pulmonary vascular resistance	0	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2	.	132
HP:0005317	HP:0005317	Increased pulmonary vascular resistance	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	20
HP:0005317	HP:0005317	Increased pulmonary vascular resistance	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	6

Genes (13) :ACTC1 BMPR2 CAV1 CITED2 GATA4 GATA6 KCNK3 MYH6 NKX2-5 SLC34A2 SMAD9 TBX20 TLL1

Diseases (6) :ORPHA:99103 OMIM:178600 OMIM:615343 OMIM:615344 ORPHA:60025 OMIM:615342

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

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