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: 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 ..polyarteritis nodosa ()
Child Nodes:
........primary polyarteritis nodosa ()
........secondary polyarteritis nodosa ()
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:	19170
Name:	polyarteritis nodosa
Definition:	Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	classic polyarteritis nodosa; classical polyarteritis nodosa; KC
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal