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	pulmonary valve stenosis

Disease ID	758
Disease	pulmonary valve stenosis
Definition	The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.
Synonym	ps - pulmonary valve stenosis pulm valve stenoses pulm valve stenosis pulmonary stenosis pulmonary stenosis valve pulmonary valve stenoses pulmonary valve stenosis [disease/finding] pulmonary valve, stenosis pulmonary valve, stenosis, pure pulmonary valve--stenosis pulmonic stenoses, valvular pulmonic stenosis pulmonic stenosis, valvular pulmonic valve stenosis pulmonic valve stenosis (disorder) pulmonic valve stenosis, nos pulmonic valvular stenosis pvs - pulmonary valve stenosis stenoses pulm valve stenoses, pulmonary valve stenosis pulm valve stenosis pulmonary stenosis pulmonic valve stenosis, pulmonary valve valvular pulmonic stenoses valvular pulmonic stenosis
OMIM	OMIM:265500
DOID	DOID:6420
UMLS	C0034089
MeSH	D011666
SNOMED-CT	SNOMEDCT_US_2016_09_01:56786000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:23) C0018818 \| ventricular septal defect \| 10 C0018816 \| septal defects \| 5 C0018799 \| heart disease \| 4 C0018801 \| heart failure \| 3 C0018802 \| congestive heart failure \| 3 C0152021 \| congenital heart disease \| 3 C0152101 \| hypoplastic left heart \| 2 C0014118 \| endocarditis \| 2 C0034088 \| pulmonary insufficiency \| 2 C0152101 \| hypoplastic left heart syndrome \| 2 C0028326 \| noonan syndrome \| 1 C0018818 \| ventricular septal defects \| 1 C0020538 \| hypertension \| 1 C0003507 \| valvular aortic stenosis \| 1 C0034088 \| pulmonary regurgitation \| 1 C0008370 \| cholestasis \| 1 C0014121 \| infective endocarditis \| 1 C0016522 \| patent foramen ovale \| 1 C0264776 \| tricuspid valve disease \| 1 C0003507 \| aortic stenosis \| 1 C0265313 \| marchesani syndrome \| 1 C0265313 \| weill-marchesani syndrome \| 1 C0020538 \| systemic hypertension \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:30) 94 \| ACVRL1 \| 1.569 \| DISEASES 554 \| AVPR2 \| 1.359 \| DISEASES 1280 \| COL2A1 \| 1.53 \| DISEASES 1289 \| COL5A1 \| 2.532 \| DISEASES 1290 \| COL5A2 \| 2.783 \| DISEASES 1291 \| COL6A1 \| 2.356 \| DISEASES 78987 \| CRELD1 \| 3.461 \| DISEASES 23136 \| EPB41L3 \| 2.494 \| DISEASES 2159 \| F10 \| 1.585 \| DISEASES 2200 \| FBN1 \| 1.437 \| DISEASES 2335 \| FN1 \| 1.493 \| DISEASES 2626 \| GATA4 \| 3.521 \| DISEASES 3303 \| HSPA1A \| 1.48 \| DISEASES 4776 \| NFATC4 \| 2.853 \| DISEASES 1482 \| NKX2-5 \| 2.65 \| DISEASES 5048 \| PAFAH1B1 \| 2.16 \| DISEASES 5627 \| PROS1 \| 1.346 \| DISEASES 5727 \| PTCH1 \| 1.065 \| DISEASES 5781 \| PTPN11 \| 5.109 \| DISEASES 5817 \| PVR \| 1.223 \| DISEASES 5900 \| RALGDS \| 2.202 \| DISEASES 9939 \| RBM8A \| 1.88 \| DISEASES 8036 \| SHOC2 \| 2.718 \| DISEASES 6654 \| SOS1 \| 4.517 \| DISEASES 55576 \| STAB2 \| 2.409 \| DISEASES 7010 \| TEK \| 2.208 \| DISEASES 7148 \| TNXB \| 2.548 \| DISEASES 7189 \| TRAF6 \| 1.638 \| DISEASES 51592 \| TRIM33 \| 1.661 \| DISEASES 7247 \| TSN \| 2.716 \| DISEASES
Locus	(Waiting for update.)

Disease ID	758
Disease	pulmonary valve stenosis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0001642 \| Pulmonic stenosis
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:35) HP:0001629 \| Ventricular septal defects \| 11 HP:0001631 \| Atria septal defect \| 8 HP:0001635 \| Congestive heart failure \| 5 HP:0001636 \| Tetrology of fallot \| 5 HP:0001671 \| Abnormality of the cardiac septa \| 5 HP:0001750 \| Single ventricle \| 4 HP:0000961 \| Cyanosis \| 3 HP:0100584 \| Endocarditis \| 2 HP:0004383 \| Underdeveloped left heart \| 2 HP:0001708 \| Impaired right ventricular function \| 2 HP:0010444 \| Puolmonary valve insufficiency \| 2 HP:0001643 \| Persistent ductus arteriosus \| 2 HP:0006695 \| Atrioventricular septal defect, partial \| 2 HP:0005164 \| Dysplastic pulmonary valve \| 1 HP:0006689 \| Bacterial endocarditis \| 1 HP:0100571 \| Cardiac diverticulum \| 1 HP:0030732 \| Dysplastic tricuspid valve \| 1 HP:0004937 \| Pulmonary artery aneurysm \| 1 HP:0001674 \| Complete atrioventricular septal defect \| 1 HP:0001650 \| Valvular aortic stenosis \| 1 HP:0001719 \| Double-outlet right ventricle \| 1 HP:0001655 \| Patent foramen ovale \| 1 HP:0002623 \| Overriding aorta \| 1 HP:0001647 \| Bicuspid aortic valve \| 1 HP:0001270 \| Motor retardation \| 1 HP:0001263 \| Developmental retardation \| 1 HP:0001694 \| Right-to-left shunt \| 1 HP:0005182 \| Bicuspid pulmonary valve \| 1 HP:0004927 \| Pulmonary artery dilatation \| 1 HP:0010316 \| Ebstein's anomaly of the tricuspid valve \| 1 HP:0001396 \| Cholestasis \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0011679 \| Tetralogy of Fallot with pulmonary stenosis \| 1 HP:0012418 \| Low blood oxygen level \| 1 HP:0001627 \| Congenital heart defects \| 1

Disease ID	758
Disease	pulmonary valve stenosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:5) C0265808 \| cyanotic congenital heart disease C0152419 \| interruption of aortic arch C0152101 \| hypoplastic left heart syndrome C0041327 \| pulmonary tuberculosis C0028326 \| noonan syndrome
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0018818 \| ventricular septal defect \| 10 C0018801 \| heart failure \| 3 C0152101 \| hypoplastic left heart syndrome \| 2 C0002940 \| aneurysm \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894073	22589735	2626	GATA4	umls:C0034089	BeFree	We previously reported that a heterozygous G296S missense mutation of GATA4 caused atrial and ventricular septal defects and pulmonary valve stenosis in humans.	0.001085767	2012	GATA4	8	11750213	G	A,C,T
rs104894073	22589735	2626	GATA4	umls:C1956257	BeFree	We previously reported that a heterozygous G296S missense mutation of GATA4 caused atrial and ventricular septal defects and pulmonary valve stenosis in humans.	0.001085767	2012	GATA4	8	11750213	G	A,C,T
rs137852812	18678287	6654	SOS1	umls:C0034089	BeFree	All patients negative for PTPN11 mutations were further screened for mutations of the KRAS, SOS1, and RAF1 genes, revealing a Thr266Lys substitution in SOS1 in a single patient, a newborn with a subtle phenotype, characterized by facial dysmorphisms and a mild pulmonic stenosis.	0.000542884	2008	SOS1	2	39051211	G	T
rs137852812	18678287	6654	SOS1	umls:C1956257	BeFree	All patients negative for PTPN11 mutations were further screened for mutations of the KRAS, SOS1, and RAF1 genes, revealing a Thr266Lys substitution in SOS1 in a single patient, a newborn with a subtle phenotype, characterized by facial dysmorphisms and a mild pulmonic stenosis.	0.000542884	2008	SOS1	2	39051211	G	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001642	Pulmonic stenosis	MP:0010449	heart right ventricle outflow tract stenosis	abnormal constriction or narrowing of part of the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001642	Pulmonic stenosis	MP:0020040	decreased bone ossification	decrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance

Disease ID	758
Disease	pulmonary valve stenosis
Case	(Waiting for update.)

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