Disease browser and phenotype portal

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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: Ventricular Outflow Obstruction (D014694)
..Starting node ..Pulmonary Valve Stenosis (D011666)
Child 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)
Sister Nodes:
..Aortic Valve Stenosis (D001024) 32
..Pulmonary Valve Stenosis (D011666) 10
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9500
Name:	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.
Alternative IDs:
ParentIDs:	MESH:D006349\|MESH:D014694
TreeNumbers:	C14.280.484.716 \|C14.280.955.750
Synonyms:	Pulmonary Stenose \|Pulmonary Stenoses \|Pulmonary Stenosis \|Pulmonary Valve Stenoses \|Pulmonic Stenoses \|Pulmonic Stenoses, Valvular \|Pulmonic Stenosis \|Pulmonic Stenosis, Valvular \|Stenose, Pulmonary \|Stenoses, Pulmonary \|Stenoses, Pulmonary Valve \|Stenoses, Pulmon
Slim Mappings:	Cardiovascular disease
Reference:	MedGen: D011666 MeSH: D011666 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants