Human Phenotype Ontology 
Grandparent Node:
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Abnormal heart valve physiology (HP:0031653)help
Parent Node:
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Abnormal aortic valve physiology (HP:0031652)help
..Starting node
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Aortic valve stenosis (HP:0001650)help
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:
........expandSupravalvular aortic stenosis (HP:0004381) help

 Sister Nodes: 
..expandAortic regurgitation (HP:0001659) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001650HP:0001650Aortic valve stenosis0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165224132102630
HP:0001650HP:0001650Aortic valve stenosis0ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM12821014631612277
HP:0001650HP:0001650Aortic valve stenosis0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1710329216610911
HP:0001650HP:0001650Aortic valve stenosis0B3GALT6 CL E G H12679275496ORPHA14023217978615291
HP:0001650HP:0001650Aortic valve stenosis0B4GALT7 CL E G H1128575496ORPHA19138930604327
HP:0001650HP:0001650Aortic valve stenosis0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15541520893300485
HP:0001650HP:0001650Aortic valve stenosis0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM1436101541165360
HP:0001650HP:0001650Aortic valve stenosis0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA1722128909300859
HP:0001650HP:0001650Aortic valve stenosis0CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM1392651971603799
HP:0001650HP:0001650Aortic valve stenosis0CYP24A1 CL E G H1591143880Idiopathic hypercalcemia of infancy143880C0268080OMIM1441302602126065
HP:0001650HP:0001650Aortic valve stenosis0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0001650HP:0001650Aortic valve stenosis0ESCO2 CL E G H157570269000Roberts-SC phocomelia syndrome269000C0392475OMIM13121527230609353
HP:0001650HP:0001650Aortic valve stenosis0FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM1272142843603134797
HP:0001650HP:0001650Aortic valve stenosis0FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM1272142843603134797
HP:0001650HP:0001650Aortic valve stenosis0GATA5 CL E G H140628402075ORPHA1325015802611496
HP:0001650HP:0001650Aortic valve stenosis0GATA5 CL E G H140628617912CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5617912CN873437OMIM1325015802611496
HP:0001650HP:0001650Aortic valve stenosis0GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM12313084298611458
HP:0001650HP:0001650Aortic valve stenosis0GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM14927123026607838
HP:0001650HP:0001650Aortic valve stenosis0HAAO CL E G H23498617660VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1617660C4540004OMIM12194796604521
HP:0001650HP:0001650Aortic valve stenosis0IDUA CL E G H3425607016Mucopolysaccharidosis, MPS-I-S607016C0026708OMIM12916225391252800
HP:0001650HP:0001650Aortic valve stenosis0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM12828618873606951
HP:0001650HP:0001650Aortic valve stenosis0LMNA CL E G H4000363618ORPHA157411526636150330
HP:0001650HP:0001650Aortic valve stenosis0LMNA CL E G H400079474ORPHA157411526636150330
HP:0001650HP:0001650Aortic valve stenosis0LTBP2 CL E G H4053614819Weill-Marchesani syndrome 3614819C3553785OMIM1292996715602091
HP:0001650HP:0001650Aortic valve stenosis0NEK8 CL E G H284086615415Renal-hepatic-pancreatic dysplasia 2615415C3809434OMIM11813913387609799
HP:0001650HP:0001650Aortic valve stenosis0NKX2-5 CL E G H1482402075ORPHA11122152488600584
HP:0001650HP:0001650Aortic valve stenosis0NOTCH1 CL E G H4851402075ORPHA112414777881190198
HP:0001650HP:0001650Aortic valve stenosis0NOTCH1 CL E G H4851109730Aortic valve disorder109730C1260873OMIM112414777881190198
HP:0001650HP:0001650Aortic valve stenosis0NPHP3 CL E G H27031208540Renal-hepatic-pancreatic dysplasia208540C2673883OMIM1764417907608002
HP:0001650HP:0001650Aortic valve stenosis0NR2F2 CL E G H7026615779Congenital heart defects, multiple types, 4615779C4014310OMIM120927976107773
HP:0001650HP:0001650Aortic valve stenosis0SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM13533913444606145
HP:0001650HP:0001650Aortic valve stenosis0SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM114712576770600993
HP:0001650HP:0001650Aortic valve stenosis0SMAD6 CL E G H4091402075ORPHA1392006772602931
HP:0001650HP:0001650Aortic valve stenosis0SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM112830587608241
HP:0001650HP:0001650Aortic valve stenosis0TAB2 CL E G H23118614980Congenital heart defects, multiple types, 2614980C3554279OMIM1335317075605101
HP:0001650HP:0001650Aortic valve stenosis0VWF CL E G H7450193400von Willebrand disease type 1193400C1264039OMIM1102784012726613160
HP:0001650HP:0001650Aortic valve stenosis0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0001650HP:0001650Aortic valve stenosis0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA12026828984610657
HP:0001650HP:0001650Aortic valve stenosis1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165224132102630
HP:0001650HP:0001650Aortic valve stenosis1ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM12821014631612277
HP:0001650HP:0001650Aortic valve stenosis1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1710329216610911
HP:0001650HP:0001650Aortic valve stenosis1B3GALT6 CL E G H12679275496ORPHA14023217978615291
HP:0001650HP:0001650Aortic valve stenosis1B4GALT7 CL E G H1128575496ORPHA19138930604327
HP:0001650HP:0001650Aortic valve stenosis1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15541520893300485
HP:0001650HP:0001650Aortic valve stenosis1CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM1436101541165360
HP:0001650HP:0001650Aortic valve stenosis1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA1722128909300859
HP:0001650HP:0001650Aortic valve stenosis1CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM1392651971603799
HP:0001650HP:0001650Aortic valve stenosis1CYP24A1 CL E G H1591143880Idiopathic hypercalcemia of infancy143880C0268080OMIM1441302602126065
HP:0001650HP:0001650Aortic valve stenosis1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0001650HP:0001650Aortic valve stenosis1ESCO2 CL E G H157570269000Roberts-SC phocomelia syndrome269000C0392475OMIM13121527230609353
HP:0001650HP:0001650Aortic valve stenosis1FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM1272142843603134797
HP:0001650HP:0001650Aortic valve stenosis1FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM1272142843603134797
HP:0001650HP:0001650Aortic valve stenosis1GATA5 CL E G H140628402075ORPHA1325015802611496
HP:0001650HP:0001650Aortic valve stenosis1GATA5 CL E G H140628617912CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5617912CN873437OMIM1325015802611496
HP:0001650HP:0001650Aortic valve stenosis1GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM12313084298611458
HP:0001650HP:0001650Aortic valve stenosis1GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM14927123026607838
HP:0001650HP:0001650Aortic valve stenosis1HAAO CL E G H23498617660VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1617660C4540004OMIM12194796604521
HP:0001650HP:0001650Aortic valve stenosis1IDUA CL E G H3425607016Mucopolysaccharidosis, MPS-I-S607016C0026708OMIM12916225391252800
HP:0001650HP:0001650Aortic valve stenosis1IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM12828618873606951
HP:0001650HP:0001650Aortic valve stenosis1LMNA CL E G H400079474ORPHA157411526636150330
HP:0001650HP:0001650Aortic valve stenosis1LMNA CL E G H4000363618ORPHA157411526636150330
HP:0001650HP:0001650Aortic valve stenosis1LTBP2 CL E G H4053614819Weill-Marchesani syndrome 3614819C3553785OMIM1292996715602091
HP:0001650HP:0001650Aortic valve stenosis1NEK8 CL E G H284086615415Renal-hepatic-pancreatic dysplasia 2615415C3809434OMIM11813913387609799
HP:0001650HP:0001650Aortic valve stenosis1NKX2-5 CL E G H1482402075ORPHA11122152488600584
HP:0001650HP:0001650Aortic valve stenosis1NOTCH1 CL E G H4851402075ORPHA112414777881190198
HP:0001650HP:0001650Aortic valve stenosis1NOTCH1 CL E G H4851109730Aortic valve disorder109730C1260873OMIM112414777881190198
HP:0001650HP:0001650Aortic valve stenosis1NPHP3 CL E G H27031208540Renal-hepatic-pancreatic dysplasia208540C2673883OMIM1764417907608002
HP:0001650HP:0001650Aortic valve stenosis1NR2F2 CL E G H7026615779Congenital heart defects, multiple types, 4615779C4014310OMIM120927976107773
HP:0001650HP:0001650Aortic valve stenosis1SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM13533913444606145
HP:0001650HP:0001650Aortic valve stenosis1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM114712576770600993
HP:0001650HP:0001650Aortic valve stenosis1SMAD6 CL E G H4091402075ORPHA1392006772602931
HP:0001650HP:0001650Aortic valve stenosis1SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM112830587608241
HP:0001650HP:0001650Aortic valve stenosis1TAB2 CL E G H23118614980Congenital heart defects, multiple types, 2614980C3554279OMIM1335317075605101
HP:0001650HP:0001650Aortic valve stenosis1VWF CL E G H7450193400von Willebrand disease type 1193400C1264039OMIM1102784012726613160
HP:0001650HP:0001650Aortic valve stenosis1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0001650HP:0001650Aortic valve stenosis1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA12026828984610657
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001650HP:0001650Aortic valve stenosis0ADAMTS10 CL E G H817943449Mehes syndromeORPHA01516513201608990
HP:0001650HP:0001650Aortic valve stenosis0ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM01516513201608990
HP:0001650HP:0001650Aortic valve stenosis0AMER1 CL E G H1392852780Hydronephrosis congenitalORPHA04121926837300647
HP:0001650HP:0001650Aortic valve stenosis0ANKS6 CL E G H203286615382Nephronophthisis 16615382C3809320OMIM01215226724615370
HP:0001650HP:0001650Aortic valve stenosis0DDX58 CL E G H23586616298Singleton-Merten syndrome 2616298C4225380OMIM089019102609631
HP:0001650HP:0001650Aortic valve stenosis0EHMT1 CL E G H7981396147ORPHA09474624650607001
HP:0001650HP:0001650Aortic valve stenosis0FBN1 CL E G H22003449Mehes syndromeORPHA0272142843603134797
HP:0001650HP:0001650Aortic valve stenosis0FGFR1 CL E G H22602396ORPHA02653883688136350
HP:0001650HP:0001650Aortic valve stenosis0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA071253749193067
HP:0001650HP:0001650Aortic valve stenosis0FOXF1 CL E G H2294210122ORPHA01021103809601089
HP:0001650HP:0001650Aortic valve stenosis0GJA1 CL E G H2697241550Hypoplastic left heart syndrome 1241550CN031062OMIM01091414274121014
HP:0001650HP:0001650Aortic valve stenosis0KRAS CL E G H38452396ORPHA0452746407190070
HP:0001650HP:0001650Aortic valve stenosis0LTBP2 CL E G H40533449Mehes syndromeORPHA0292996715602091
HP:0001650HP:0001650Aortic valve stenosis0NOTCH2 CL E G H4853955ORPHA0813947882600275
HP:0001650HP:0001650Aortic valve stenosis0NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM0764417907608002
HP:0001650HP:0001650Aortic valve stenosis0SCN1B CL E G H6324615377Atrial fibrillation, familial, 13615377C3809311OMIM03128810586600235
HP:0001650HP:0001650Aortic valve stenosis0TAB2 CL E G H23118228410ORPHA0335317075605101
HP:0001650HP:0001650Aortic valve stenosis0WT1 CL E G H74903097ORPHA018463512796607102
HP:0001650HP:0001650Aortic valve stenosis1ADAMTS10 CL E G H817943449Mehes syndromeORPHA01516513201608990
HP:0001650HP:0001650Aortic valve stenosis1ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM01516513201608990
HP:0001650HP:0001650Aortic valve stenosis1AMER1 CL E G H1392852780Hydronephrosis congenitalORPHA04121926837300647
HP:0001650HP:0001650Aortic valve stenosis1ANKS6 CL E G H203286615382Nephronophthisis 16615382C3809320OMIM01215226724615370
HP:0001650HP:0001650Aortic valve stenosis1DDX58 CL E G H23586616298Singleton-Merten syndrome 2616298C4225380OMIM089019102609631
HP:0001650HP:0001650Aortic valve stenosis1EHMT1 CL E G H7981396147ORPHA09474624650607001
HP:0001650HP:0001650Aortic valve stenosis1FBN1 CL E G H22003449Mehes syndromeORPHA0272142843603134797
HP:0001650HP:0001650Aortic valve stenosis1FGFR1 CL E G H22602396ORPHA02653883688136350
HP:0001650HP:0001650Aortic valve stenosis1FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA071253749193067
HP:0001650HP:0001650Aortic valve stenosis1FOXF1 CL E G H2294210122ORPHA01021103809601089
HP:0001650HP:0001650Aortic valve stenosis1GJA1 CL E G H2697241550Hypoplastic left heart syndrome 1241550CN031062OMIM01091414274121014
HP:0001650HP:0001650Aortic valve stenosis1KRAS CL E G H38452396ORPHA0452746407190070
HP:0001650HP:0001650Aortic valve stenosis1LTBP2 CL E G H40533449Mehes syndromeORPHA0292996715602091
HP:0001650HP:0001650Aortic valve stenosis1NOTCH2 CL E G H4853955ORPHA0813947882600275
HP:0001650HP:0001650Aortic valve stenosis1NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM0764417907608002
HP:0001650HP:0001650Aortic valve stenosis1SCN1B CL E G H6324615377Atrial fibrillation, familial, 13615377C3809311OMIM03128810586600235
HP:0001650HP:0001650Aortic valve stenosis1TAB2 CL E G H23118228410ORPHA0335317075605101
HP:0001650HP:0001650Aortic valve stenosis1WT1 CL E G H74903097ORPHA018463512796607102


Genes (62) :ABCG5 ABCG8 ACTB ADAMTS10 ADAMTSL2 AMER1 ANKS6 APOB ARHGAP31 B3GALT6 B4GALT7 BAZ1B BCOR CBL CCDC22 CHST3 CLIP2 CYP24A1 DDX58 EBP EHMT1 ELN ESCO2 FBLN5 FBN1 FGFR1 FLI1 FOXF1 GATA5 GJA1 GLB1 GNPTG GTF2I GTF2IRD1 HAAO IDUA IFIH1 KRAS LDLR LDLRAP1 LIMK1 LMNA LTBP2 MLXIPL NEK8 NKX2-5 NOTCH1 NOTCH2 NPHP3 NR2F2 PCSK9 RFC2 SCN1B SLC2A10 SMAD4 SMAD6 SNIP1 TAB2 TBL2 VWF WASHC5 WT1

Diseases (54) :243310 3449 277600 231050 2780 615382 100300 75496 300166 613563 7 143095 143880 616298 300960 96147 269000 614185 608328 2396 2308 210122 402075 617912 241550 253010 252605 617660 607016 182250 79474 363618 614819 615415 109730 955 267010 208540 615779 615377 208050 139210 614501 228410 614980 193400 220210 3097 391665 904 3193 185500 194050 219100
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.