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: autoimmune disease (MONDO:0007179)
Parent Node: rheumatologic disorder (MONDO:0005554)
..Starting node ..lupus erythematosus ()
Child Nodes:
........cutaneous lupus erythematosus ()
........drug-induced lupus erythematosus ()
........neonatal lupus erythematosus ()
........systemic lupus erythematosus (disease) ()
Sister Nodes:
..acroosteolysis dominant type ()
..arthritis ()
..autoinflammatory syndrome ()
..camptodactyly-arthropathy-coxa vara-pericarditis syndrome ()
..fibroblastic rheumatism ()
..Gorham-Stout disease ()
..idiopathic juvenile osteoporosis ()
..immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome ()
..intermittent hydrarthrosis ()
..interstitial granulomatous dermatitis with arthritis ()
..isolated sternocostoclavicular hyperostosis ()
..lupus erythematosus ()
..mixed connective tissue disease ()
..palindromic rheumatism ()
..polymyalgia rheumatica ()
..progeria-associated arthropathy ()
..rheumatic disease of mitral valve ()
..rheumatic pulmonary valve disease ()
..scleroderma (disease) ()
..sweet syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	4670
Name:	lupus erythematosus
Definition:	An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	lupus; lupus erythematosus
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal