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 left ventricle morphology (HP:0001711)

Parent Node:
Abnormal left ventricular outflow tract morphology (HP:0011103)

..Starting node
..Subvalvular aortic stenosis (HP:0001682)

Term ID:

1682

Name:

Subvalvular aortic stenosis

Synonym:

Narrowing of blood vessel below aortic heart valve; Subaortic stenosis

Definition:

A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.

Comments:

Reference:

HP:0001682

Genes and Diseases:

Child Nodes:

........

Muscular subvalvular aortic stenosis (HP:0001691)

........

Membranous subvalvular aortic stenosis (HP:0005174)

Sister Nodes:

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:0001682	HP:0001682	Subvalvular aortic stenosis	0	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	CAV3 CL E G H	859	1529	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.	148
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	HP:0040283 - Occasional	33
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	MYH6 CL E G H	4624	7576	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.	452
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	MYH7 CL E G H	4625	7577	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.	1269
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	MYLK2 CL E G H	85366	16243	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.	124
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects	HP:0040283 - Occasional	90
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2	.	11
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly	.	60
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	WDPCP CL E G H	51057	28027	ORPHA:1338	Heart defect-tongue hamartoma-polysyndactyly syndrome	HP:0040281 - Very frequent	60
HP:0001682	HP:0001682	Subvalvular aortic stenosis	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0001682	HP:0005174	Membranous subvalvular aortic stenosis	1	CL E G H
HP:0001682	HP:0001691	Muscular subvalvular aortic stenosis	1	CL E G H

Genes (21) :ADAMTS19 BUB1 BUB1B BUB3 CAV3 CEP57 FGFR1 FOCAD GNB2 HDAC4 IFIH1 MYH6 MYH7 MYLK2 NKX2-5 PTPN11 SYT2 TAB2 TRIP13 WDPCP ZIC3

Diseases (16) :OMIM:620067 ORPHA:1052 OMIM:192600 OMIM:614114 OMIM:613001 OMIM:619991 OMIM:619503 OMIM:600430 OMIM:182250 OMIM:108900 OMIM:151100 OMIM:619461 OMIM:614980 OMIM:217085 ORPHA:1338 OMIM:306955

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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