Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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 Septal Defects, Atrial (D006344)
..Starting node ..Foramen Ovale, Patent (D054092)
Child Nodes:
Sister Nodes:
..3C syndrome (C535313)
..Atrial Septal Defect 1 (C566239)
..Atrial septal defect 2 (C538263)
..Atrial Septal Defect 3 (C563540)
..Atrial Septal Defect 4 (C566963)
..Atrial Septal Defect 5 (C567561)
..Atrial Septal Defect 6 (C567764)
..Atrial Septal Defect Ostium Primum (C548006)
..Atrial Septal Defect Sinus Venosus (C548009)
..Atrial Septal Defect with Atrioventricular Conduction Defects (C566238) 1
..Atrial Septal Defect, Primum Type (C566240)
..Atrial Septal Defect, Secundum Type (C566241)
..Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects (C566351)
..Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..Ciuffo Syndrome (C566733)
..Dursun Syndrome (C567804)
..Foramen Ovale, Patent (D054092)
..Holt-Oram syndrome (C535326)
..Irons Bhan syndrome (C535539)
..Lutembacher Syndrome (D008185)
..Lymphedema, Cardiac Septal Defects, And Characteristic Facies (C567398)
..Oculootofacial Dysplasia (C563682)
..Radial Ray Deficiency, X-Linked (C564523)
..Rapadilino syndrome (C535288)
..Tel Hashomer camptodactyly syndrome (C536953)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4374
Name:	Foramen Ovale, Patent
Definition:	A condition in which the FORAMEN OVALE in the ATRIAL SEPTUM fails to close shortly after birth. This results in abnormal communications between the two upper chambers of the heart. An isolated patent ovale foramen without other structural heart defects is usually of no hemodynamic significance.
Alternative IDs:
ParentIDs:	MESH:D006344
TreeNumbers:	C14.240.400.560.375.258 \|C14.280.400.560.375.258 \|C16.131.240.400.560.375.258
Synonyms:	Oval Foramen, Patent \|Patent Foramen Ovale \|Patent Oval Foramen
Slim Mappings:	Cardiovascular disease\|Congenital abnormality
Reference:	MedGen: D054092 MeSH: D054092 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants