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: arthropathy (MONDO:0006816)
Parent Node: soft tissue neoplasm (MONDO:0006424)
Parent Node: synovium disease (MONDO:0056799)
..Starting node ..synovium neoplasm ()
Child Nodes:
........benign synovial neoplasm ()
........synovium cancer ()
........tenosynovial giant cell tumor ()
Sister Nodes:
..synovial bursa disease ()
..synovial plica syndrome ()
..synovitis (disease) ()
..synovium neoplasm ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2528
Name:	synovium neoplasm
Definition:	A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	neoplasm of synovial membrane of synovial joint; neoplasm of synovium; neoplasm of the synovium; synovial membrane of synovial joint neoplasm; synovial membrane of synovial joint neoplasm (disease); synovial membrane of synovial joint tumor; synovial neoplasm; synovial neoplasm (morphologic abnormal
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: MRPS16;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal