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: arthropathy (MONDO:0006816)
Parent Node: inflammatory disease (MONDO:0021166)
Parent Node: synovial bursa disease (MONDO:0056802)
..Starting node ..bursitis ()
Child Nodes:
........Achilles bursitis ()
........gonococcal bursitis ()
........olecranon bursitis ()
........periarthritis ()
........subacute bursitis ()
Sister Nodes:
..bursitis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2471
Name:	bursitis
Definition:	Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	adhesive Capsulitides; adhesive Capsulitides, shoulder; adhesive capsulitis; adhesive capsulitis of the shoulder; adhesive capsulitis, shoulder; Bursitides; Capsulitides; Capsulitides, adhesive; Capsulitides, shoulder adhesive; capsulitis; capsulitis, adhesive; capsulitis, shoulder adhesive; frozen
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: CLCF1;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal