Human Phenotype Ontology 
Grandparent Node:
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Abnormal heart valve physiology (HP:0031653)help
Parent Node:
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Abnormal pulmonary valve physiology (HP:0031654)help
..Starting node
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Pulmonic stenosis (HP:0001642)help
Term ID: 1642
Name: Pulmonic stenosis
Synonym: Narrowing of pulmonic valve; Pulmonary stenosis; Pulmonary valve stenosis; Pulmonic valve stenosis
Definition: A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis).
Comments:
Reference: HP:0001642
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandPulmonary insufficiency (HP:0010444) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001642HP:0001642Pulmonic stenosis0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1710329216610911
HP:0001642HP:0001642Pulmonic stenosis0B3GALT6 CL E G H12679275496ORPHA14023217978615291
HP:0001642HP:0001642Pulmonic stenosis0B3GLCT CL E G H145173709ORPHA11518120207610308
HP:0001642HP:0001642Pulmonic stenosis0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0001642HP:0001642Pulmonic stenosis0B4GALT7 CL E G H1128575496ORPHA19138930604327
HP:0001642HP:0001642Pulmonic stenosis0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0001642HP:0001642Pulmonic stenosis0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15541520893300485
HP:0001642HP:0001642Pulmonic stenosis0BMP2 CL E G H650617877SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES617877CN807949OMIM137691069112261
HP:0001642HP:0001642Pulmonic stenosis0BRAF CL E G H673500ORPHA1684901097164757
HP:0001642HP:0001642Pulmonic stenosis0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0001642HP:0001642Pulmonic stenosis0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1684901097164757
HP:0001642HP:0001642Pulmonic stenosis0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM1684901097164757
HP:0001642HP:0001642Pulmonic stenosis0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA1722128909300859
HP:0001642HP:0001642Pulmonic stenosis0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884126620626608892
HP:0001642HP:0001642Pulmonic stenosis0CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM1392651971603799
HP:0001642HP:0001642Pulmonic stenosis0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0001642HP:0001642Pulmonic stenosis0CYP24A1 CL E G H1591143880Idiopathic hypercalcemia of infancy143880C0268080OMIM1441302602126065
HP:0001642HP:0001642Pulmonic stenosis0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0001642HP:0001642Pulmonic stenosis0ELN CL E G H2006185500Supravalvar aortic stenosis185500C0003499OMIM11275233327130160
HP:0001642HP:0001642Pulmonic stenosis0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM11275233327130160
HP:0001642HP:0001642Pulmonic stenosis0ENPP1 CL E G H5167613312Hypophosphatemic rickets, autosomal recessive, 2613312C2750078OMIM1772743356173335
HP:0001642HP:0001642Pulmonic stenosis0FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM1272142843603134797
HP:0001642HP:0001642Pulmonic stenosis0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1594503622607440
HP:0001642HP:0001642Pulmonic stenosis0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0001642HP:0001642Pulmonic stenosis0GATA6 CL E G H2627600001Pancreatic agenesis and congenital heart disease600001C1838780OMIM1851724174601656
HP:0001642HP:0001642Pulmonic stenosis0GDF1 CL E G H2657208530Bilateral right-sidedness sequence208530C0175707OMIM1151494214602880
HP:0001642HP:0001642Pulmonic stenosis0GDF1 CL E G H2657613854Transposition of the great arteries, dextro-looped 3613854C3151221OMIM1151494214602880
HP:0001642HP:0001642Pulmonic stenosis0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0001642HP:0001642Pulmonic stenosis0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0001642HP:0001642Pulmonic stenosis0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0001642HP:0001642Pulmonic stenosis0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0001642HP:0001642Pulmonic stenosis0HRAS CL E G H32653071ORPHA1342955173190020
HP:0001642HP:0001642Pulmonic stenosis0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1342955173190020
HP:0001642HP:0001642Pulmonic stenosis0IGFBP7 CL E G H3490614224Retinal arterial macroaneurysm with supravalvular pulmonic stenosis614224C3280205OMIM13215476602867
HP:0001642HP:0001642Pulmonic stenosis0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM17284024565612452
HP:0001642HP:0001642Pulmonic stenosis0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1452746407190070
HP:0001642HP:0001642Pulmonic stenosis0KRAS CL E G H3845609942Noonan syndrome 3609942C1860991OMIM1452746407190070
HP:0001642HP:0001642Pulmonic stenosis0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0001642HP:0001642Pulmonic stenosis0LTBP2 CL E G H4053614819Weill-Marchesani syndrome 3614819C3553785OMIM1292996715602091
HP:0001642HP:0001642Pulmonic stenosis0LZTR1 CL E G H8216616564Noonan syndrome 10616564C4225280OMIM1866996742600574
HP:0001642HP:0001642Pulmonic stenosis0MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM1232136840176872
HP:0001642HP:0001642Pulmonic stenosis0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232136840176872
HP:0001642HP:0001642Pulmonic stenosis0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM1232136840176872
HP:0001642HP:0001642Pulmonic stenosis0MAP2K2 CL E G H5605638ORPHA1353386842601263
HP:0001642HP:0001642Pulmonic stenosis0MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM1353386842601263
HP:0001642HP:0001642Pulmonic stenosis0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1353386842601263
HP:0001642HP:0001642Pulmonic stenosis0MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM113646859602614
HP:0001642HP:0001642Pulmonic stenosis0MGP CL E G H4256245150Keutel syndrome245150C1855607OMIM112817060154870
HP:0001642HP:0001642Pulmonic stenosis0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM1619712744605678
HP:0001642HP:0001642Pulmonic stenosis0NEK8 CL E G H284086615415Renal-hepatic-pancreatic dysplasia 2615415C3809434OMIM11813913387609799
HP:0001642HP:0001642Pulmonic stenosis0NEK9 CL E G H91754614262Arthrogryposis, perthes disease, and upward gaze palsy614262C3280309OMIM134518591609798
HP:0001642HP:0001642Pulmonic stenosis0NF1 CL E G H4763638ORPHA1301164917765613113
HP:0001642HP:0001642Pulmonic stenosis0NOTCH1 CL E G H4851616028Adams-Oliver syndrome 5616028C4014970OMIM112414777881190198
HP:0001642HP:0001642Pulmonic stenosis0NOTCH2 CL E G H4853610205Alagille syndrome 2610205C1857761OMIM1813947882600275
HP:0001642HP:0001642Pulmonic stenosis0NRXN1 CL E G H9378614325Pitt-Hopkins-like syndrome 2614325C3280479OMIM134510778008600565
HP:0001642HP:0001642Pulmonic stenosis0PPP1CB CL E G H55002701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA112409282600590
HP:0001642HP:0001642Pulmonic stenosis0PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM112409282600590
HP:0001642HP:0001642Pulmonic stenosis0PTPN11 CL E G H5781500ORPHA11434759644176876
HP:0001642HP:0001642Pulmonic stenosis0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM11434759644176876
HP:0001642HP:0001642Pulmonic stenosis0RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0001642HP:0001642Pulmonic stenosis0RAD21 CL E G H5885611376Mungan syndrome611376C1969653OMIM1131499811606462
HP:0001642HP:0001642Pulmonic stenosis0RAF1 CL E G H5894500ORPHA1545089829164760
HP:0001642HP:0001642Pulmonic stenosis0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0001642HP:0001642Pulmonic stenosis0RIT1 CL E G H6016615355Noonan syndrome 8615355C3809233OMIM12610610023609591
HP:0001642HP:0001642Pulmonic stenosis0RPL27 CL E G H6155617408Diamond-Blackfan anemia 16617408C4479424OMIM111210328607526
HP:0001642HP:0001642Pulmonic stenosis0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM1416010727608166
HP:0001642HP:0001642Pulmonic stenosis0SHOC2 CL E G H80362701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA1418415454602775
HP:0001642HP:0001642Pulmonic stenosis0SHOC2 CL E G H8036607721Noonan syndrome-like disorder with loose anagen hair 1607721C1843181OMIM1418415454602775
HP:0001642HP:0001642Pulmonic stenosis0SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM1282132468606062
HP:0001642HP:0001642Pulmonic stenosis0SOS1 CL E G H6654610733Noonan syndrome 4610733C1853120OMIM17566511187182530
HP:0001642HP:0001642Pulmonic stenosis0SOS2 CL E G H6655616559Noonan syndrome 9616559C4225282OMIM1632411188601247
HP:0001642HP:0001642Pulmonic stenosis0STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM13319430650610745
HP:0001642HP:0001642Pulmonic stenosis0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0001642HP:0001642Pulmonic stenosis0TBX2 CL E G H6909618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION618223OMIM1155311597600747
HP:0001642HP:0001642Pulmonic stenosis0TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM156420456606692
HP:0001642HP:0001642Pulmonic stenosis0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0001642HP:0001642Pulmonic stenosis0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA12026828984610657
HP:0001642HP:0001642Pulmonic stenosis0WNT4 CL E G H54361139466ORPHA182912783603490
HP:0001642HP:0001642Pulmonic stenosis0ZEB2 CL E G H9839235730Mowat-Wilson syndrome235730C1856113OMIM129861314881605802
HP:0001642HP:0001642Pulmonic stenosis0ZIC3 CL E G H7547306955Heterotaxy, visceral, X-linked306955C1844020OMIM14225212874300265
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001642HP:0001642Pulmonic stenosis0ADAMTS10 CL E G H817943449Mehes syndromeORPHA01516513201608990
HP:0001642HP:0001642Pulmonic stenosis0ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM01516513201608990
HP:0001642HP:0001642Pulmonic stenosis0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM01564257102750
HP:0001642HP:0001642Pulmonic stenosis0ALDH18A1 CL E G H583290348ORPHA0332529722138250
HP:0001642HP:0001642Pulmonic stenosis0ANKS6 CL E G H203286615382Nephronophthisis 16615382C3809320OMIM01215226724615370
HP:0001642HP:0001642Pulmonic stenosis0BPTF CL E G H2186529962ORPHA014803581601819
HP:0001642HP:0001642Pulmonic stenosis0BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM0684901097164757
HP:0001642HP:0001642Pulmonic stenosis0DSG1 CL E G H1828615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige615508C3809719OMIM035893048125670
HP:0001642HP:0001642Pulmonic stenosis0EFEMP2 CL E G H3000890349ORPHA0171803219604633
HP:0001642HP:0001642Pulmonic stenosis0ELN CL E G H200690348ORPHA01275233327130160
HP:0001642HP:0001642Pulmonic stenosis0FBLN5 CL E G H1051690349ORPHA0231423602604580
HP:0001642HP:0001642Pulmonic stenosis0FBLN5 CL E G H1051690348ORPHA0231423602604580
HP:0001642HP:0001642Pulmonic stenosis0FBN1 CL E G H22003449Mehes syndromeORPHA0272142843603134797
HP:0001642HP:0001642Pulmonic stenosis0GATA4 CL E G H2626614429Ventricular septal defect 1614429C3280777OMIM01713414173600576
HP:0001642HP:0001642Pulmonic stenosis0GATA6 CL E G H26272255Familial non-immune hyperthyroidismORPHA0851724174601656
HP:0001642HP:0001642Pulmonic stenosis0KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM08131112637300128
HP:0001642HP:0001642Pulmonic stenosis0LTBP2 CL E G H40533449Mehes syndromeORPHA0292996715602091
HP:0001642HP:0001642Pulmonic stenosis0NF1 CL E G H4763601321Neurofibromatosis-Noonan syndrome601321C2931482OMIM0301164917765613113
HP:0001642HP:0001642Pulmonic stenosis0NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM0141817989164790
HP:0001642HP:0001642Pulmonic stenosis0PRDM5 CL E G H1110790354ORPHA0131319349614161
HP:0001642HP:0001642Pulmonic stenosis0PSMD12 CL E G H5718529962ORPHA010359557604450
HP:0001642HP:0001642Pulmonic stenosis0PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM01434759644176876
HP:0001642HP:0001642Pulmonic stenosis0RAF1 CL E G H5894611553Noonan syndrome 5611553C1969057OMIM0545089829164760
HP:0001642HP:0001642Pulmonic stenosis0RNF135 CL E G H84282137634ORPHA088921158611358
HP:0001642HP:0001642Pulmonic stenosis0SGO1 CL E G H151648616201Chronic atrial and intestinal dysrhythmia616201C4015474OMIM012925088609168
HP:0001642HP:0001642Pulmonic stenosis0SMAD3 CL E G H4088284984ORPHA0955926769603109
HP:0001642HP:0001642Pulmonic stenosis0SMAD3 CL E G H4088613795Loeys-Dietz syndrome 3613795C3151087OMIM0955926769603109
HP:0001642HP:0001642Pulmonic stenosis0TAB2 CL E G H23118228410ORPHA0335317075605101
HP:0001642HP:0001642Pulmonic stenosis0TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM06412823639614589
HP:0001642HP:0001642Pulmonic stenosis0ZNF469 CL E G H8462790354ORPHA06964123216612078


Genes (82) :ADAMTS10 ADK ALDH18A1 ANKS6 ARHGAP31 B3GALT6 B3GLCT B4GALT7 BAZ1B BCOR BMP2 BPTF BRAF CCDC22 CHD7 CHST3 CLIP2 CYP24A1 DSG1 EFEMP2 ELN ENPP1 FBLN5 FBN1 FKTN G6PC3 GATA4 GATA6 GDF1 GPC3 GPC4 GTF2I GTF2IRD1 HRAS IGFBP7 KANSL1 KDM6A KRAS LIMK1 LTBP2 LZTR1 MAP2K1 MAP2K2 MAP3K7 MGP MLXIPL NEK8 NEK9 NF1 NOTCH1 NOTCH2 NRAS NRXN1 PPP1CB PRDM5 PSMD12 PTPN11 RAB23 RAD21 RAF1 RFC2 RIT1 RNF135 RPL27 SEMA3E SGO1 SHOC2 SMAD3 SMC3 SOS1 SOS2 STRA6 TAB2 TBL2 TBX2 TRAF7 TTC37 WASHC5 WNT4 ZEB2 ZIC3 ZNF469

Diseases (82) :3449 277600 614300 90348 615382 100300 75496 709 261540 904 300166 617877 529962 500 115150 1340 163950 613706 7 214800 143095 143880 615508 90349 185500 194050 613312 608328 253800 612541 614429 2255 600001 208530 613854 312870 3071 218040 614224 610443 300867 609942 614819 616564 615279 638 615280 617137 245150 615415 614262 601321 616028 610205 613224 614325 2701 617506 90354 151100 201000 611376 611553 615355 137634 617408 616201 607721 284984 613795 610759 610733 616559 601186 228410 618223 618164 222470 220210 139466 235730 306955
 

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