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: arthritis (MONDO:0005578)
Parent Node: autoinflammatory syndrome (MONDO:0019751)
Parent Node: secondary glomerular disease (MONDO:0019724)
..Starting node ..adult-onset Still disease ()
Child Nodes:
Sister Nodes:
..AA amyloidosis ()
..AApoAIV amyloidosis ()
..adult-onset Still disease ()
..AH amyloidosis ()
..AL amyloidosis ()
..anti-glomerular basement membrane disease ()
..autoimmune interstitial lung disease-arthritis syndrome ()
..Behcet disease ()
..collagen type III glomerulopathy ()
..Cryoglobulinemic vasculitis ()
..eosinophilic granulomatosis with polyangiitis ()
..familial Mediterranean fever ()
..familial visceral amyloidosis ()
..granulomatosis with polyangiitis ()
..hypocomplementemic urticarial vasculitis ()
..IgG4-related kidney disease ()
..immunoglobulin a vasculitis ()
..immunotactoid or fibrillary glomerulopathy ()
..microscopic polyangiitis ()
..mixed connective tissue disease ()
..Muckle-Wells syndrome ()
..non-amyloid monoclonal immunoglobulin deposition disease ()
..pauci-immune glomerulonephritis ()
..polyarteritis nodosa ()
..polymyositis ()
..relapsing polychondritis ()
..Reynolds syndrome ()
..systemic lupus erythematosus (disease) ()
..systemic sclerosis ()
..Takayasu arteritis ()
..temporal arteritis ()
..thromboangiitis obliterans ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19355
Name:	adult-onset Still disease
Definition:	adult-onset Still disease (AOSD) is a rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	adult onset Still's disease; adult Still's disease; adult-onset Still disease; adult-onset Still's disease; AOSD; Still's disease adult onset; Wissler-Fanconi syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal