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 heart valve physiology (HP:0031653)

Parent Node:
Abnormal pulmonary valve physiology (HP:0031654)

..Starting node
..Pulmonary insufficiency (HP:0010444)

Term ID:

10444

Name:

Pulmonary insufficiency

Synonym:

Pulmonary incompetence; Pulmonary valve regurgitation; Pulmonic regurgitation; Puolmonary valve insufficiency

Definition:

The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.

Comments:

Reference:

HP:0010444

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pulmonic stenosis (HP:0001642)

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:0010444	HP:0010444	Pulmonary insufficiency	0	ABCA3 CL E G H	21	33	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040283 - Occasional	147
HP:0010444	HP:0010444	Pulmonary insufficiency	0	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0010444	HP:0010444	Pulmonary insufficiency	0	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0010444	HP:0010444	Pulmonary insufficiency	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0010444	HP:0010444	Pulmonary insufficiency	0	ATP11A CL E G H	23250	13552	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040283 - Occasional
HP:0010444	HP:0010444	Pulmonary insufficiency	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.	373
HP:0010444	HP:0010444	Pulmonary insufficiency	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional	243
HP:0010444	HP:0010444	Pulmonary insufficiency	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.	243
HP:0010444	HP:0010444	Pulmonary insufficiency	0	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0010444	HP:0010444	Pulmonary insufficiency	0	DPP9 CL E G H	91039	18648	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040283 - Occasional
HP:0010444	HP:0010444	Pulmonary insufficiency	0	DSP CL E G H	1832	3052	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040283 - Occasional	747
HP:0010444	HP:0010444	Pulmonary insufficiency	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0010444	HP:0010444	Pulmonary insufficiency	0	FAM13A CL E G H	10144	19367	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040283 - Occasional
HP:0010444	HP:0010444	Pulmonary insufficiency	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0010444	HP:0010444	Pulmonary insufficiency	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0010444	HP:0010444	Pulmonary insufficiency	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040282 - Frequent	240
HP:0010444	HP:0010444	Pulmonary insufficiency	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.	106
HP:0010444	HP:0010444	Pulmonary insufficiency	0	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0010444	HP:0010444	Pulmonary insufficiency	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0010444	HP:0010444	Pulmonary insufficiency	0	MUC5B CL E G H	727897	7516	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040283 - Occasional	133
HP:0010444	HP:0010444	Pulmonary insufficiency	0	PARN CL E G H	5073	8609	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040283 - Occasional	26
HP:0010444	HP:0010444	Pulmonary insufficiency	0	RTEL1 CL E G H	51750	15888	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040283 - Occasional	77
HP:0010444	HP:0010444	Pulmonary insufficiency	0	SFTPA1 CL E G H	653509	10798	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040283 - Occasional	19
HP:0010444	HP:0010444	Pulmonary insufficiency	0	SFTPA2 CL E G H	729238	10799	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040283 - Occasional	10
HP:0010444	HP:0010444	Pulmonary insufficiency	0	SFTPC CL E G H	6440	10802	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040283 - Occasional	33
HP:0010444	HP:0010444	Pulmonary insufficiency	0	STN1 CL E G H	79991	26200	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040283 - Occasional	2
HP:0010444	HP:0010444	Pulmonary insufficiency	0	TERC CL E G H	7012	11727	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040283 - Occasional	48
HP:0010444	HP:0010444	Pulmonary insufficiency	0	TERT CL E G H	7015	11730	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040283 - Occasional	238

Genes (27) :ABCA3 ADA ADAMTS19 ARSB ATP11A COL1A1 COL1A2 DNAL1 DPP9 DSP EFEMP2 FAM13A FLNA FOXF1 GNPTAB INVS KIF20A LEMD2 MUC5B PARN RTEL1 SFTPA1 SFTPA2 SFTPC STN1 TERC TERT

Diseases (14) :ORPHA:2032 ORPHA:277 OMIM:620067 OMIM:253200 OMIM:166210 ORPHA:230851 OMIM:614017 OMIM:614437 ORPHA:555877 OMIM:265380 ORPHA:576 OMIM:602088 OMIM:619433 OMIM:619322

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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