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: rheumatologic disorder (MONDO:0005554)
..Starting node ..isolated sternocostoclavicular hyperostosis ()
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:	44355
Name:	isolated sternocostoclavicular hyperostosis
Definition:	Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	isolated SCCH
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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