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: benign soft tissue neoplasm (MONDO:0044335)
Parent Node: synovium neoplasm (MONDO:0002528)
..Starting node ..benign synovial neoplasm ()
Child Nodes:
........synovial angioma ()
........tendon sheath lipoma ()
........tenosynovial giant cell tumor, diffuse type ()
........tenosynovial giant cell tumor, localized type ()
Sister Nodes:
..benign synovial neoplasm ()
..synovium cancer ()
..tenosynovial giant cell tumor ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	24715
Name:	benign synovial neoplasm
Definition:	A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	benign neoplasm of synovium; benign neoplasm of the synovium; benign synovial neoplasm; benign synovial tumor; benign synovioma; benign synovium neoplasm; benign tumor of synovium; benign tumor of the synovium; synovioma, benign; synovium neoplasm, benign
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal