MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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: myopathy (MONDO:0005336)
Parent Node: rheumatologic disorder (MONDO:0005554)
..Starting node ..polymyalgia rheumatica ()
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:	19735
Name:	polymyalgia rheumatica
Definition:	A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	polymyalgia rheumatica; rhizomelic pseudopolyarthritis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal