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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: Genetic Diseases, X-Linked (D040181)
Parent Node: Mitral Valve Prolapse (D008945)
..Starting node ..Mitral valve prolapse, familial, X-linked (C537478)
Child Nodes:
Sister Nodes:
..Borrone Di Rocco Crovato syndrome (C536577)
..Cantalamessa Baldini Ambrosi syndrome (C537981)
..Cardiac valvular dysplasia, X-linked (C535576)
..MASS syndrome (C536030)
..MITRAL VALVE PROLAPSE, FAMILIAL (OMIM:157700)
..Mitral valve prolapse, familial, X-linked (C537478)
..Mitral Valve Prolapse, Myxomatous 1 (C563573)
..Mitral Valve Prolapse, Myxomatous 2 (C564326)
..Mitral Valve Prolapse, Myxomatous 3 (C563655)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7337
Name:	Mitral valve prolapse, familial, X-linked
Definition:
Alternative IDs:
ParentIDs:	MESH:D008945\|MESH:D040181
TreeNumbers:	C14.280.484.400.500/C537478 \|C16.320.322/C537478
Synonyms:	Barlow syndrome \|Mitral regurgitation, familial \|Myxomatous valvular disease, familial
Slim Mappings:	Cardiovascular disease\|Genetic disease (inborn)
Reference:	MedGen: C537478 MeSH: C537478 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants