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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: Pulmonary Valve Stenosis (D011666)
..Starting node ..Pulmonary Subvalvular Stenosis (D011662)
Child Nodes:
Sister Nodes:
..Ciuffo Syndrome (C566733)
..Hordnes Engebretsen Knudtson syndrome (C536067)
..Keutel syndrome (C536167)
..LEOPARD Syndrome (D044542) 2
..Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness (C562894)
..Pulmonary Subvalvular Stenosis (D011662)
..Pulmonic Stenosis and Congenital Nephrosis (C562895)
..WATSON SYNDROME (OMIM:193520)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9498
Name:	Pulmonary Subvalvular Stenosis
Definition:	Narrowing below the PULMONARY VALVE or well below it in the infundibuluar chamber where the pulmonary artery originates, usually caused by a defective VENTRICULAR SEPTUM or presence of fibrous tissues. It is characterized by restricted blood outflow from the RIGHT VENTRICLE into the PULMONARY ARTERY, exertional fatigue, DYSPNEA, and chest discomfort.
Alternative IDs:
ParentIDs:	MESH:D011666
TreeNumbers:	C14.280.484.716.762 \|C14.280.955.750.762
Synonyms:	Conus, Obstructive Subaortic \|Infundibular Stenoses, Pulmonary \|Infundibular Stenosis, Pulmonary \|Obstructive Subaortic Conus \|Pulmonary Infundibular Stenoses \|Pulmonary Infundibular Stenosis \|Pulmonary Stenoses, Subvalvular \|Pulmonary Stenosis, Subvalvular \|Pul
Slim Mappings:	Cardiovascular disease
Reference:	MedGen: D011662 MeSH: D011662 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants