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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

Disease Browser
Parent Node: Heart Valve Diseases (D006349)
Parent Node: Vascular Malformations (D054079)
..Starting node ..Pulmonary Atresia (D018633)
Child Nodes:
........Pulmonary Atresia with Intact Ventricular Septum (C562832)
........Pulmonary Atresia With Ventricular Septal Defect (C562833)
Sister Nodes:
..Arterial Tortuosity Syndrome (C565942)
..Arterio-Arterial Fistula (D001159) 2
..Arteriovenous Malformations (D001165) 12
..Capillary Malformations, Congenital, 1 (C562760) 1
..Central Nervous System Vascular Malformations (D020785) 10
..Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (C567863)
..Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature (C565092)
..Hemophilia A with Vascular Abnormality (C564415)
..May-Thurner Syndrome (D062108)
..Patent Ductus Venosus (C562830)
..Prepapillary Vascular Loops (C563287)
..Pulmonary Atresia (D018633) 2
..Scimitar Syndrome (D012587) 1
..Single Umbilical Artery (D058529)
..Splenoportal Vascular Anomalies (C562761)
..Telangiectasia, Hereditary Hemorrhagic (D013683) 4
..Vascular Fistula (D016157) 7
..Vascular Malformation, Primary Intraosseous (C564648)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9478
Name:	Pulmonary Atresia
Definition:	A congenital heart defect characterized by the narrowing or complete absence of the opening between the RIGHT VENTRICLE and the PULMONARY ARTERY. Lacking a normal PULMONARY VALVE, unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation. Clinical features include rapid breathing, CYANOSIS, right ventricle atrophy, and abnormal heart sounds (HEART MURMURS).
Alternative IDs:
ParentIDs:	MESH:D006349\|MESH:D054079
TreeNumbers:	C14.240.850.937 \|C14.280.484.640 \|C16.131.240.850.906
Synonyms:	Atresia, Pulmonary \|Atresia, Pulmonary Valve \|Atresias, Pulmonary \|Atresias, Pulmonary Valve \|Pulmonary Atresias \|Pulmonary Valve Atresia \|Pulmonary Valve Atresias \|Valve Atresia, Pulmonary \|Valve Atresias, Pulmonary
Slim Mappings:	Cardiovascular disease\|Congenital abnormality
Reference:	MedGen: D018633 MeSH: D018633 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants