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: Anti-neutrophil cytoplasmic antibody-associated vasculitis (MONDO:0015492)
Parent Node: arteritis (MONDO:0043494)
Parent Node: neurovascular disease (MONDO:0043218)
Parent Node: secondary glomerular disease (MONDO:0019724)
Parent Node: systemic inflammatory disease associated with an acquired peripheral neuropathy (MONDO:0016177)
..Starting node ..microscopic polyangiitis ()
Child Nodes:
Sister Nodes:
..CREST syndrome ()
..Cryoglobulinemic vasculitis ()
..eosinophilic granulomatosis with polyangiitis ()
..granulomatosis with polyangiitis ()
..microscopic polyangiitis ()
..mixed connective tissue disease ()
..polyarteritis nodosa ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19124
Name:	microscopic polyangiitis
Definition:	Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Micropolyangiitis; microscopic polyarteritis; MPA
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal