MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: arterial disorder (MONDO:0000473)
Parent Node: syndromic disease (MONDO:0002254)
Parent Node: transient ischemic attack (disease) (MONDO:0005264)
Parent Node: vascular insufficiency disorder (MONDO:0020674)
..Starting node ..vertebral artery insufficiency ()
Child Nodes:
........basilar artery insufficiency ()
Sister Nodes:
..aortic valve insufficiency ()
..chronic intestinal vascular insufficiency ()
..congenital mitral valve insufficiency ()
..splenic infarction ()
..tricuspid valve insufficiency ()
..venous insufficiency (disease) ()
..vertebral artery insufficiency ()
..vertebrobasilar insufficiency ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1631
Name:	vertebral artery insufficiency
Definition:	A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	vertebral artery syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal