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 occlusion (MONDO:0020673)
Parent Node: occlusion precerebral artery (MONDO:0003718)
..Starting node ..vertebral artery occlusion ()
Child Nodes:
........basilar artery occlusion ()
Sister Nodes:
..carotid artery occlusion ()
..vertebral artery occlusion ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1258
Name:	vertebral artery occlusion
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	occlusion and stenosis of vertebral artery; vertebral artery occlusion; vertebrobasial artery occlusion
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: HSD3B7;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal