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 sound (HP:0031657)

Parent Node:
Heart murmur (HP:0030148)

..Starting node
..Systolic heart murmur (HP:0031664)

Term ID:

31664

Name:

Systolic heart murmur

Synonym:

Definition:

A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.

Comments:

Reference:

HP:0031664

Genes and Diseases:

Child Nodes:

........

Midsystolic murmur (HP:0031665)

........

Late sytolic murmur (HP:0031666)

........

Holosystolic murmur (HP:0031667)

Sister Nodes:

Continuous heart murmur (HP:0031670)

Diastolic heart murmur (HP:0031668)

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:0031664	HP:0031664	Systolic heart murmur	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	208
HP:0031664	HP:0031664	Systolic heart murmur	0	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0031664	HP:0031664	Systolic heart murmur	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	5
HP:0031664	HP:0031664	Systolic heart murmur	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040282 - Frequent	5
HP:0031664	HP:0031664	Systolic heart murmur	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0031664	HP:0031664	Systolic heart murmur	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	87
HP:0031664	HP:0031664	Systolic heart murmur	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	37
HP:0031664	HP:0031664	Systolic heart murmur	0	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3		68
HP:0031664	HP:0031664	Systolic heart murmur	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	452
HP:0031664	HP:0031664	Systolic heart murmur	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	90
HP:0031664	HP:0031664	Systolic heart murmur	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	20
HP:0031664	HP:0031664	Systolic heart murmur	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent	6
HP:0031664	HP:0031664	Systolic heart murmur	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	6
HP:0031664	HP:0031664	Systolic heart murmur	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0031664	HP:0031664	Systolic heart murmur	0	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0031664	HP:0031667	Holosystolic murmur	1	CL E G H
HP:0031664	HP:0031666	Late systolic murmur	1	CL E G H
HP:0031664	HP:0031665	Midsystolic murmur	1	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3	.	68

Genes (13) :ACTC1 ADAMTS19 CITED2 FOCAD GATA4 GATA6 GJA1 MYH6 NKX2-5 TBX20 TLL1 TMEM260 TWIST1

Diseases (8) :ORPHA:99103 OMIM:620067 ORPHA:99105 OMIM:619991 OMIM:600309 ORPHA:99106 OMIM:617478 OMIM:123100

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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