Disease browser and phenotype portal

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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: Cerebrovascular Disorders (D002561)
Parent Node: Thromboembolism (D013923)
..Starting node ..Intracranial Embolism and Thrombosis (D002542)
Child Nodes:
........Carotid Artery Thrombosis (D002341)
........Intracranial Embolism (D020766)
........Intracranial Thrombosis (D020767) 4
Sister Nodes:
..Embolism, Paradoxical (D019320)
..Intracranial Embolism and Thrombosis (D002542) 7
..Venous Thromboembolism (D054556)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5878
Name:	Intracranial Embolism and Thrombosis
Definition:	Embolism or thrombosis involving blood vessels which supply intracranial structures. Emboli may originate from extracranial or intracranial sources. Thrombosis may occur in arterial or venous structures.
Alternative IDs:
ParentIDs:	MESH:D002561\|MESH:D013923
TreeNumbers:	C10.228.140.300.525 \|C14.907.253.566 \|C14.907.355.590.213 \|C14.907.355.830.850.213
Synonyms:	Brain Embolism and Thrombosis \|Cerebral Embolism and Thrombosis \|Embolism and Thrombosis, Brain
Slim Mappings:	Cardiovascular disease\|Nervous system disease
Reference:	MedGen: D002542 MeSH: D002542 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants