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 of cardiovascular system (MONDO:0000603)
Parent Node: pulmonary valve disease (MONDO:0003628)
Parent Node: rheumatologic disorder (MONDO:0005554)
..Starting node ..rheumatic pulmonary valve disease ()
Child Nodes:
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:	3627
Name:	rheumatic pulmonary valve disease
Definition:	A rheumatologic disorder that involves the pulmonary valve.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	pulmonary valve rheumatologic disorder; rheumatic disease of pulmonary valve; rheumatic pulmonary incompetence; rheumatologic disorder of pulmonary valve
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal