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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: Marfan Syndrome (D008382)
..Starting node ..Marfan Syndrome type 2 (C535911)
Child Nodes:
Sister Nodes:
..Cutis Laxa-Marfanoid Syndrome (C563639)
..Furlong syndrome (C538192)
..Lujan Fryns syndrome (C537724)
..Marfan Syndrome type 2 (C535911)
..Marfanoid Habitus with Microcephaly and Glomerulonephritis (C565411)
..Marfanoid Habitus with Situs Inversus (C563814)
..Marfanoid hypermobility syndrome (C531742)
..Marfanoid Mental Retardation Syndrome, Autosomal (C565410)
..Shprintzen Golberg craniosynostosis (C537328)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6794
Name:	Marfan Syndrome type 2
Definition:
Alternative IDs:
ParentIDs:	MESH:D008382
TreeNumbers:	C05.116.099.674/C535911 \|C14.240.400.725/C535911 \|C14.280.400.725/C535911 \|C16.131.077.550/C535911 \|C16.131.240.400.720/C535911 \|C16.320.540/C535911 \|C17.300.500/C535911
Synonyms:	Marfan like connective tissue disorder
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Connective tissue disease\|Genetic disease (inborn)\|Musculoskeletal disease
Reference:	MedGen: C535911 MeSH: C535911 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants