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 atrioventricular valve physiology (HP:0031650)

Parent Node:
Abnormal mitral valve physiology (HP:0031481)

..Starting node
..Mitral stenosis (HP:0001718)

Term ID:

1718

Name:

Mitral stenosis

Synonym:

Mitral valve stenosis

Definition:

An abnormal narrowing of the orifice of the mitral valve.

Comments:

Reference:

HP:0001718

Genes and Diseases:

Child Nodes:

........

Congenital mitral stenosis (HP:0011570)

Sister Nodes:

Mitral regurgitation (HP:0001653)

Systolic anterior motion of the mitral valve (HP:0031656)

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:0001718	HP:0001718	Mitral stenosis	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0001718	HP:0001718	Mitral stenosis	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0001718	HP:0001718	Mitral stenosis	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0001718	HP:0001718	Mitral stenosis	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0001718	HP:0001718	Mitral stenosis	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0001718	HP:0001718	Mitral stenosis	0	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC	.
HP:0001718	HP:0001718	Mitral stenosis	0	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional	68
HP:0001718	HP:0001718	Mitral stenosis	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.	2
HP:0001718	HP:0001718	Mitral stenosis	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0001718	HP:0001718	Mitral stenosis	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10	.	43
HP:0001718	HP:0001718	Mitral stenosis	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2	.	43
HP:0001718	HP:0001718	Mitral stenosis	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0001718	HP:0001718	Mitral stenosis	0	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional	90
HP:0001718	HP:0001718	Mitral stenosis	0	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1	HP:0040284 - Very rare	452
HP:0001718	HP:0001718	Mitral stenosis	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0001718	HP:0001718	Mitral stenosis	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.	4
HP:0001718	HP:0001718	Mitral stenosis	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0001718	HP:0001718	Mitral stenosis	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0001718	HP:0001718	Mitral stenosis	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0001718	HP:0001718	Mitral stenosis	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0001718	HP:0001718	Mitral stenosis	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0001718	HP:0001718	Mitral stenosis	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0001718	HP:0001718	Mitral stenosis	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.	4
HP:0001718	HP:0011570	Congenital mitral stenosis	1	CL E G H

Genes (22) :ABCC6 ADAMTSL2 ARSB CHST3 FBN1 GBA1 GJA1 HAAO LMNA LZTR1 MCTP2 NKX2-5 NOTCH1 NOTCH2 PLD1 SYT2 UBE2A XYLT1 XYLT2 ZIC3 ZMPSTE24 ZNF148

Diseases (19) :OMIM:264800 OMIM:231050 OMIM:253200 OMIM:143095 OMIM:614185 OMIM:231005 ORPHA:2248 OMIM:617660 ORPHA:740 OMIM:616564 OMIM:605275 ORPHA:1596 OMIM:109730 ORPHA:955 OMIM:212093 OMIM:619461 ORPHA:163956 OMIM:306955 OMIM:617260

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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