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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: Beckwith-Wiedemann Syndrome (D001506)
..Starting node ..Franceschini Vardeu Guala syndrome (C537272)
Child Nodes:
Sister Nodes:
..Franceschini Vardeu Guala syndrome (C537272)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4406
Name:	Franceschini Vardeu Guala syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D001506
TreeNumbers:	C16.131.077.133/C537272 \|C16.131.260.080/C537272 \|C16.320.180.080/C537272
Synonyms:
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)
Reference:	MedGen: C537272 MeSH: C537272 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants