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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: Aortic Aneurysm, Thoracic (D017545)
Parent Node: Loeys-Dietz Syndrome (D055947)
..Starting node ..Aortic aneurysm, familial thoracic 3 (C537783)
Child Nodes:
........LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Sister Nodes:
..Aortic aneurysm, familial thoracic 3 (C537783) 1
..Ascending aortic aneurysm, hypertelorism, bifid uvula, cleft palate, and arterial tortuosity (C531732)
..Loeys-Dietz Syndrome, Type 1b (C567181)
..Loeys-Dietz Syndrome, Type 2A (C567156)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	783
Name:	Aortic aneurysm, familial thoracic 3
Definition:
Alternative IDs:
ParentIDs:	MESH:D017545\|MESH:D055947
TreeNumbers:	C05.660.207.532/C537783 \|C14.907.055.050.362/C537783 \|C14.907.055.239.125/C537783 \|C14.907.055.239.587/C537783 \|C14.907.109.139.125/C537783 \|C14.907.109.139.587/C537783 \|C16.131.077.537/C537783 \|C16.320.510/C537783
Synonyms:	Loeys-Dietz Syndrome, Type 2b
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Genetic disease (inborn)\|Musculoskeletal disease
Reference:	MedGen: C537783 MeSH: C537783 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants