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 cardiovascular system physiology (HP:0011025)

Parent Node:
Abnormal heart sound (HP:0031657)

..Starting node
..Heart murmur (HP:0030148)

Term ID:

30148

Name:

Heart murmur

Synonym:

Cardiac murmur; Cardiac murmurs; Heart murmur; Heart murmurs

Definition:

An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.

Comments:

Reference:

HP:0030148

Genes and Diseases:

Child Nodes:

........

Systolic heart murmur (HP:0031664)

................... HP:0031665 Midsystolic murmur
................... HP:0031666 Late sytolic murmur
................... HP:0031667 Holosystolic murmur

........

Diastolic heart murmur (HP:0031668)

................... HP:0031669 Middiastolic murmur

........

Continuous heart murmur (HP:0031670)

Sister Nodes:

Abnormal second heart sound (HP:0031661)

Fourth heart sound (HP:0031659)

Loud first heart sound (HP:0031660)

Third heart sound (HP:0031658)

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:0030148	HP:0030148	Heart murmur	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:0030148	HP:0030148	Heart murmur	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:0030148	HP:0030148	Heart murmur	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type		208
HP:0030148	HP:0030148	Heart murmur	0	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0030148	HP:0030148	Heart murmur	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:0030148	HP:0030148	Heart murmur	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0030148	HP:0030148	Heart murmur	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45		39
HP:0030148	HP:0030148	Heart murmur	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type		5
HP:0030148	HP:0030148	Heart murmur	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type		5
HP:0030148	HP:0030148	Heart murmur	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0030148	HP:0030148	Heart murmur	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0030148	HP:0030148	Heart murmur	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent	1361
HP:0030148	HP:0030148	Heart murmur	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0030148	HP:0030148	Heart murmur	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0030148	HP:0030148	Heart murmur	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent	407
HP:0030148	HP:0030148	Heart murmur	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type		87
HP:0030148	HP:0030148	Heart murmur	0	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	10
HP:0030148	HP:0030148	Heart murmur	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type		37
HP:0030148	HP:0030148	Heart murmur	0	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3		68
HP:0030148	HP:0030148	Heart murmur	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0030148	HP:0030148	Heart murmur	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:0030148	HP:0030148	Heart murmur	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:0030148	HP:0030148	Heart murmur	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:0030148	HP:0030148	Heart murmur	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:0030148	HP:0030148	Heart murmur	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type		452
HP:0030148	HP:0030148	Heart murmur	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0030148	HP:0030148	Heart murmur	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type		90
HP:0030148	HP:0030148	Heart murmur	0	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	90
HP:0030148	HP:0030148	Heart murmur	0	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	452
HP:0030148	HP:0030148	Heart murmur	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178
HP:0030148	HP:0030148	Heart murmur	0	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040281 - Very frequent	134
HP:0030148	HP:0030148	Heart murmur	0	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2	.	68
HP:0030148	HP:0030148	Heart murmur	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040283 - Occasional	129
HP:0030148	HP:0030148	Heart murmur	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0030148	HP:0030148	Heart murmur	0	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	33
HP:0030148	HP:0030148	Heart murmur	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent	146
HP:0030148	HP:0030148	Heart murmur	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0030148	HP:0030148	Heart murmur	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type		20
HP:0030148	HP:0030148	Heart murmur	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type		6
HP:0030148	HP:0030148	Heart murmur	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type		6
HP:0030148	HP:0030148	Heart murmur	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0030148	HP:0030148	Heart murmur	0	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0030148	HP:0031670	Continuous heart murmur	1	CL E G H
HP:0030148	HP:0031668	Diastolic heart murmur	1	CL E G H
HP:0030148	HP:0031664	Systolic heart murmur	1	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	208
HP:0030148	HP:0031664	Systolic heart murmur	1	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0030148	HP:0031664	Systolic heart murmur	1	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	5
HP:0030148	HP:0031664	Systolic heart murmur	1	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040282 - Frequent	5
HP:0030148	HP:0031664	Systolic heart murmur	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0030148	HP:0031664	Systolic heart murmur	1	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	87
HP:0030148	HP:0031664	Systolic heart murmur	1	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	37
HP:0030148	HP:0031664	Systolic heart murmur	1	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3		68
HP:0030148	HP:0031664	Systolic heart murmur	1	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	452
HP:0030148	HP:0031664	Systolic heart murmur	1	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	90
HP:0030148	HP:0031664	Systolic heart murmur	1	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	20
HP:0030148	HP:0031664	Systolic heart murmur	1	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent	6
HP:0030148	HP:0031664	Systolic heart murmur	1	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	6
HP:0030148	HP:0031664	Systolic heart murmur	1	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0030148	HP:0031664	Systolic heart murmur	1	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0030148	HP:0031669	Middiastolic murmur	2	CL E G H
HP:0030148	HP:0031667	Holosystolic murmur	2	CL E G H
HP:0030148	HP:0031666	Late systolic murmur	2	CL E G H
HP:0030148	HP:0031665	Midsystolic murmur	2	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3	.	68

Genes (38) :ABCG5 ABCG8 ACTC1 ADAMTS19 APOB BICRA CIC CITED2 CWC27 DDX6 FBN1 FIG4 FOCAD GAA GATA4 GATA5 GATA6 GJA1 GNPTAB IDS LDLR LDLRAP1 MYH6 MYH7 NKX2-5 NOTCH1 PCSK9 PRKAR1A RBBP8 SDHD SLC25A4 SMAD6 SMARCA2 SPTBN1 TBX20 TLL1 TMEM260 TWIST1

Diseases (27) :ORPHA:391665 ORPHA:99103 OMIM:620067 OMIM:619325 OMIM:617600 ORPHA:99105 ORPHA:166035 OMIM:618653 ORPHA:284979 OMIM:216340 OMIM:619991 ORPHA:308552 ORPHA:402075 OMIM:600309 OMIM:252500 ORPHA:217093 ORPHA:217085 ORPHA:437572 ORPHA:615 OMIM:606744 ORPHA:100093 OMIM:615418 ORPHA:2728 OMIM:619475 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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