Human Phenotype Ontology

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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 respiratory system physiology (HP:0002795)

Grandparent Node:
Abnormal vascular physiology (HP:0030163)

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

..Starting node
..Pulmonary venous hypertension (HP:0030950)

Term ID:

30950

Name:

Pulmonary venous hypertension

Synonym:

Definition:

An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.

Comments:

Reference:

HP:0030950

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated pulmonary artery pressure (HP:0004890)

Increased pulmonary capillary wedge pressure (HP:0030876)

Increased pulmonary vascular resistance (HP:0005317)

Intrapulmonary shunt (HP:0031225)

Pulmonary embolism (HP:0002204)

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:0030950	HP:0030950	Pulmonary venous hypertension	0	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	197
HP:0030950	HP:0030950	Pulmonary venous hypertension	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare	3
HP:0030950	HP:0030950	Pulmonary venous hypertension	0	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent
HP:0030950	HP:0030950	Pulmonary venous hypertension	0	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	217
HP:0030950	HP:0030950	Pulmonary venous hypertension	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare	36
HP:0030950	HP:0030950	Pulmonary venous hypertension	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0030950	HP:0030950	Pulmonary venous hypertension	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare	109
HP:0030950	HP:0030950	Pulmonary venous hypertension	0	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	180
HP:0030950	HP:0030950	Pulmonary venous hypertension	0	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	248

Genes (9) :FLNC KCNN4 KIF20A MYPN PIEZO1 SLC37A4 SLC4A1 TNNI3 TNNT2

Diseases (3) :ORPHA:75249 ORPHA:3202 ORPHA:79259

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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