Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Arterial Occlusive Diseases (D001157)
Parent Node: Carotid Artery Diseases (D002340)
Parent Node: Cerebral Arterial Diseases (D002539)
..Starting node ..Moyamoya Disease (D009072)
Child Nodes:
........Moyamoya disease 1 (C536991)
........Moyamoya disease 2 (C536992)
........Moyamoya disease 3 (C536993)
........MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM (OMIM:300845)
Sister Nodes:
..CADASIL (D046589) 1
..Cerebral Amyloid Angiopathy (D016657) 4
..Infarction, Anterior Cerebral Artery (D020243)
..Infarction, Middle Cerebral Artery (D020244)
..Infarction, Posterior Cerebral Artery (D020762)
..Moyamoya Disease (D009072) 4
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7407
Name:	Moyamoya Disease
Definition:	A noninflammatory, progressive occlusion of the intracranial CAROTID ARTERIES and the formation of netlike collateral arteries arising from the CIRCLE OF WILLIS. Cerebral angiogram shows the puff-of-smoke (moyamoya) collaterals at the base of the brain. It is characterized by endothelial HYPERPLASIA and FIBROSIS with thickening of arterial walls. This disease primarily affects children but can also occur in adults.
Alternative IDs:
ParentIDs:	MESH:D001157\|MESH:D002340\|MESH:D002539
TreeNumbers:	C10.228.140.300.200.600 \|C10.228.140.300.510.200.737 \|C14.907.137.615 \|C14.907.253.123.620 \|C14.907.253.560.200.737
Synonyms:	Cerebrovascular Moyamoya Disease \|Classic Moyamoya Disease \|Disease, Classic Moyamoya \|Disease, Moya-Moya \|Disease, Primary Moyamoya \|Moya Moya Disease \|Moya-Moya Disease \|Moyamoya Disease, Classic \|Moyamoya Disease, Primary \|Moyamoya Disease, Secondary \|Moyamoya
Slim Mappings:	Cardiovascular disease\|Nervous system disease
Reference:	MedGen: D009072 MeSH: D009072 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants