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 cardiovascular system physiology (HP:0011025)

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

Parent Node:
Abnormal vascular physiology (HP:0030163)

..Starting node
..Abnormality of venous physiology (HP:0030846)

Term ID:

30846

Name:

Abnormality of venous physiology

Synonym:

Definition:

An anomaly of venous function.

Comments:

Reference:

HP:0030846

Genes and Diseases:

Child Nodes:

........

Budd-Chiari syndrome (HP:0002639)

........

Venous occlusion (HP:0025322)

........

Abnormal jugular venous pressure (HP:0030847)

................... HP:0030848 Elevated jugular venous pressure
................... HP:0030849 Hepatojugular reflux

........

Abnormal vena cava physiology (HP:0030970)

Sister Nodes:

Abnormal arterial physiology (HP:0025323)

Abnormal capillary physiology (HP:0025018)

Abnormal pulse pressure (HP:0030850)

Abnormality of pulmonary circulation (HP:0030875)

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:0030846	HP:0030846	Abnormality of venous physiology	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0030846	HP:0030846	Abnormality of venous physiology	0	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0030846	HP:0030846	Abnormality of venous physiology	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy		9
HP:0030846	HP:0030846	Abnormality of venous physiology	0	F5 CL E G H	2153	3542	OMIM:600880	Budd-Chiari syndrome		159
HP:0030846	HP:0030846	Abnormality of venous physiology	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1		38
HP:0030846	HP:0030846	Abnormality of venous physiology	0	JAK2 CL E G H	3717	6192	OMIM:600880	Budd-Chiari syndrome		57
HP:0030846	HP:0030846	Abnormality of venous physiology	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera		57
HP:0030846	HP:0030846	Abnormality of venous physiology	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera		57
HP:0030846	HP:0030846	Abnormality of venous physiology	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera		97
HP:0030846	HP:0030846	Abnormality of venous physiology	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0030846	HP:0030846	Abnormality of venous physiology	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0030846	HP:0030846	Abnormality of venous physiology	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera		3
HP:0030846	HP:0030970	Abnormal vena cava physiology	1	CL E G H
HP:0030846	HP:0025322	Venous occlusion	1	CL E G H
HP:0030846	HP:0030847	Abnormal jugular venous pressure	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0030846	HP:0030847	Abnormal jugular venous pressure	1	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0030846	HP:0002639	Budd-Chiari syndrome	1	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.	9
HP:0030846	HP:0002639	Budd-Chiari syndrome	1	F5 CL E G H	2153	3542	OMIM:600880	Budd-Chiari syndrome	.	159
HP:0030846	HP:0030847	Abnormal jugular venous pressure	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1		38
HP:0030846	HP:0002639	Budd-Chiari syndrome	1	JAK2 CL E G H	3717	6192	OMIM:600880	Budd-Chiari syndrome	.	57
HP:0030846	HP:0002639	Budd-Chiari syndrome	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	57
HP:0030846	HP:0002639	Budd-Chiari syndrome	1	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.	57
HP:0030846	HP:0002639	Budd-Chiari syndrome	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	97
HP:0030846	HP:0030847	Abnormal jugular venous pressure	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0030846	HP:0002639	Budd-Chiari syndrome	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional	46
HP:0030846	HP:0002639	Budd-Chiari syndrome	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	3
HP:0030846	HP:0030849	Hepatojugular reflux	2	CL E G H
HP:0030846	HP:0030848	Elevated jugular venous pressure	2	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0030846	HP:0030848	Elevated jugular venous pressure	2	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0030846	HP:0030848	Elevated jugular venous pressure	2	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional	38
HP:0030846	HP:0030848	Elevated jugular venous pressure	2	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269

Genes (10) :BMP6 BMPR2 CD55 F5 HFE JAK2 MPL MYH7 PIGA TET2

Diseases (8) :ORPHA:465508 OMIM:265450 OMIM:226300 OMIM:600880 OMIM:263300 ORPHA:729 OMIM:255160 ORPHA:447

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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