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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 Diseases (D001018)
..Starting node ..Aortic Arch Syndromes (D001015)
Child Nodes:
........Takayasu Arteritis (D013625)
Sister Nodes:
..Aortic Aneurysm (D001014) 18
..Aortic Arch Syndromes (D001015) 1
..Aortitis (D001025)
..Calcific Aortic Disease with Immunologic Abnormalities, Familial (C566182)
..Leriche Syndrome (D007925)
..Singleton Merten syndrome (C537343)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	790
Name:	Aortic Arch Syndromes
Definition:	Conditions resulting from abnormalities in the arteries branching from the ASCENDING AORTA, the curved portion of the aorta. These syndromes are results of occlusion or abnormal blood flow to the head-neck or arm region leading to neurological defects and weakness in an arm. These syndromes are associated with vascular malformations; ATHEROSCLEROSIS; TRAUMA; and blood clots.
Alternative IDs:
ParentIDs:	MESH:D001018
TreeNumbers:	C14.907.109.239
Synonyms:	Aortic Arch Syndrome \|Syndrome, Aortic Arch \|Syndromes, Aortic Arch
Slim Mappings:	Cardiovascular disease
Reference:	MedGen: D001015 MeSH: D001015 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants