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 aortic valve physiology (HP:0031652)

..Starting node
..Aortic valve stenosis (HP:0001650)

Term ID:

1650

Name:

Aortic valve stenosis

Synonym:

Aortic stenosis; Narrowing of aortic valve; Valvular aortic stenosis

Definition:

The presence of a stenosis (narrowing) of the aortic valve.

Comments:

Reference:

HP:0001650

Genes and Diseases:

Child Nodes:

........

Supravalvular aortic stenosis (HP:0004381)

Sister Nodes:

Aortic regurgitation (HP:0001659)

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:0001650	HP:0001650	Aortic valve stenosis	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0001650	HP:0001650	Aortic valve stenosis	0	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional	63
HP:0001650	HP:0001650	Aortic valve stenosis	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1		63
HP:0001650	HP:0001650	Aortic valve stenosis	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0001650	HP:0001650	Aortic valve stenosis	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional	34
HP:0001650	HP:0001650	Aortic valve stenosis	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16	HP:0040283 - Occasional	32
HP:0001650	HP:0001650	Aortic valve stenosis	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0001650	HP:0001650	Aortic valve stenosis	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001650	HP:0001650	Aortic valve stenosis	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	29
HP:0001650	HP:0001650	Aortic valve stenosis	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.	101
HP:0001650	HP:0001650	Aortic valve stenosis	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0001650	HP:0001650	Aortic valve stenosis	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent	33
HP:0001650	HP:0001650	Aortic valve stenosis	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0001650	HP:0001650	Aortic valve stenosis	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040283 - Occasional	4
HP:0001650	HP:0001650	Aortic valve stenosis	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040284 - Very rare	291
HP:0001650	HP:0001650	Aortic valve stenosis	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare	291
HP:0001650	HP:0001650	Aortic valve stenosis	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.	73
HP:0001650	HP:0001650	Aortic valve stenosis	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0001650	HP:0001650	Aortic valve stenosis	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare	134
HP:0001650	HP:0001650	Aortic valve stenosis	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare	134
HP:0001650	HP:0001650	Aortic valve stenosis	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0001650	HP:0001650	Aortic valve stenosis	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.	51
HP:0001650	HP:0001650	Aortic valve stenosis	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0001650	HP:0001650	Aortic valve stenosis	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare	250
HP:0001650	HP:0001650	Aortic valve stenosis	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0001650	HP:0001650	Aortic valve stenosis	0	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional	1361
HP:0001650	HP:0001650	Aortic valve stenosis	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.	1361
HP:0001650	HP:0001650	Aortic valve stenosis	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040283 - Occasional	172
HP:0001650	HP:0001650	Aortic valve stenosis	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0001650	HP:0001650	Aortic valve stenosis	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional	61
HP:0001650	HP:0001650	Aortic valve stenosis	0	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.	10
HP:0001650	HP:0001650	Aortic valve stenosis	0	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	10
HP:0001650	HP:0001650	Aortic valve stenosis	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0001650	HP:0001650	Aortic valve stenosis	0	GJA1 CL E G H	2697	4274	OMIM:241550	HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1		68
HP:0001650	HP:0001650	Aortic valve stenosis	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0001650	HP:0001650	Aortic valve stenosis	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.	57
HP:0001650	HP:0001650	Aortic valve stenosis	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.	2
HP:0001650	HP:0001650	Aortic valve stenosis	0	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome	.	115
HP:0001650	HP:0001650	Aortic valve stenosis	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28
HP:0001650	HP:0001650	Aortic valve stenosis	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040283 - Occasional	196
HP:0001650	HP:0001650	Aortic valve stenosis	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040282 - Frequent	645
HP:0001650	HP:0001650	Aortic valve stenosis	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0001650	HP:0001650	Aortic valve stenosis	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0001650	HP:0001650	Aortic valve stenosis	0	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional	123
HP:0001650	HP:0001650	Aortic valve stenosis	0	LTBP2 CL E G H	4053	6715	OMIM:614819	Weill-Marchesani syndrome 3	.	123
HP:0001650	HP:0001650	Aortic valve stenosis	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.	43
HP:0001650	HP:0001650	Aortic valve stenosis	0	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	90
HP:0001650	HP:0001650	Aortic valve stenosis	0	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1	.	452
HP:0001650	HP:0001650	Aortic valve stenosis	0	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	452
HP:0001650	HP:0001650	Aortic valve stenosis	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0001650	HP:0001650	Aortic valve stenosis	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0001650	HP:0001650	Aortic valve stenosis	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.	157
HP:0001650	HP:0001650	Aortic valve stenosis	0	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4	.	13
HP:0001650	HP:0001650	Aortic valve stenosis	0	RIGI CL E G H	23586	19102	OMIM:616298	Singleton-Merten syndrome 2	HP:0040283 - Occasional
HP:0001650	HP:0001650	Aortic valve stenosis	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0001650	HP:0001650	Aortic valve stenosis	0	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3	.
HP:0001650	HP:0001650	Aortic valve stenosis	0	SCN1B CL E G H	6324	10586	OMIM:615377	Atrial fibrillation, familial, 13	HP:0040283 - Occasional	126
HP:0001650	HP:0001650	Aortic valve stenosis	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0001650	HP:0001650	Aortic valve stenosis	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0001650	HP:0001650	Aortic valve stenosis	0	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	33
HP:0001650	HP:0001650	Aortic valve stenosis	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.	3
HP:0001650	HP:0001650	Aortic valve stenosis	0	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2	.	11
HP:0001650	HP:0001650	Aortic valve stenosis	0	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome	HP:0040283 - Occasional	11
HP:0001650	HP:0001650	Aortic valve stenosis	0	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40		7
HP:0001650	HP:0001650	Aortic valve stenosis	0	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis		107
HP:0001650	HP:0001650	Aortic valve stenosis	0	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0001650	HP:0001650	Aortic valve stenosis	0	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1	.	533
HP:0001650	HP:0001650	Aortic valve stenosis	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent	83
HP:0001650	HP:0001650	Aortic valve stenosis	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0001650	HP:0001650	Aortic valve stenosis	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional	177
HP:0001650	HP:0001650	Aortic valve stenosis	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0001650	HP:0001650	Aortic valve stenosis	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0001650	HP:0001650	Aortic valve stenosis	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83

Genes (58) :ACTB ADAMTS10 ADAMTSL2 AMER1 ANKS6 ARHGAP31 ARSK B4GALT7 BCOR CBL CCDC22 CHST3 CLIC2 CREBBP CYP24A1 DPH1 DYRK1A EBP EHMT1 EP300 FBN1 FGFR1 FLI1 FOXF1 GATA5 GBA1 GJA1 GLB1 GNPTG HAAO IDUA IFIH1 KRAS LMNA LTBP2 NEK8 NKX2-5 NOTCH1 NOTCH2 NPHP3 NR2F2 RIGI RMRP ROBO4 SCN1B SLC2A10 SMAD4 SMAD6 SNIP1 TAB2 TAF2 TTR TWIST1 VWF WASHC5 WT1 ZEB2 ZMPSTE24

Diseases (65) :OMIM:243310 ORPHA:3449 OMIM:277600 OMIM:231050 ORPHA:2780 OMIM:615382 OMIM:100300 OMIM:619698 ORPHA:75496 OMIM:300166 OMIM:613563 ORPHA:7 OMIM:143095 ORPHA:324410 ORPHA:353281 ORPHA:353277 OMIM:143880 ORPHA:459061 ORPHA:268261 ORPHA:464311 ORPHA:401973 OMIM:300960 ORPHA:96147 ORPHA:353284 OMIM:614185 OMIM:608328 ORPHA:2396 ORPHA:2308 ORPHA:210122 OMIM:617912 ORPHA:402075 OMIM:230800 OMIM:241550 OMIM:253010 OMIM:252605 OMIM:617660 OMIM:607016 OMIM:182250 ORPHA:79474 ORPHA:740 ORPHA:363618 OMIM:614819 OMIM:615415 OMIM:109730 ORPHA:955 OMIM:267010 OMIM:208540 OMIM:615779 OMIM:616298 OMIM:607095 OMIM:618496 OMIM:615377 OMIM:208050 OMIM:139210 OMIM:614501 OMIM:614980 ORPHA:228410 OMIM:615599 ORPHA:85451 OMIM:123100 OMIM:193400 OMIM:220210 ORPHA:3097 ORPHA:261552 ORPHA:261537

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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