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: immune complex mediated vasculitis (MONDO:0015491)
Parent Node: secondary glomerular disease (MONDO:0019724)
Parent Node: secondary interstitial lung disease specific to childhood associated with a systemic vasculitis (MONDO:0017022)
..Starting node ..immunoglobulin a vasculitis ()
Child Nodes:
Sister Nodes:
..immunoglobulin a vasculitis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19167
Name:	immunoglobulin a vasculitis
Definition:	SchC6nlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	anaphylactoid purpura; Henoch Schonlein purpura; Henoch-SchC6nlein purpura; IgA vasculitis; purpura rheumatica; purpura, Schonlein-Henoch; rheumatoid purpura; vascular purpura
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal