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: connective tissue neoplasm (MONDO:0021581)
Parent Node: giant cell tumor (MONDO:0002171)
Parent Node: synovium neoplasm (MONDO:0002528)
Parent Node: tendon sheath disorder (MONDO:0024876)
..Starting node ..tenosynovial giant cell tumor ()
Child Nodes:
........malignant tenosynovial giant cell tumor ()
........tenosynovial giant cell tumor, diffuse type ()
........tenosynovial giant cell tumor, localized type ()
Sister Nodes:
..tendon sheath fibroma ()
..tendon sheath lipoma ()
..tenosynovial giant cell tumor ()
..tenosynovitis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2522
Name:	tenosynovial giant cell tumor
Definition:	A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	fibrous histiocytoma of tendon sheath; giant cell neoplasm of tendon sheath; giant cell neoplasm of Tenosynovium; giant cell neoplasm of the Tenosynovium; giant cell tumor of tendon sheath; giant cell tumor of Tenosynovium; giant cell tumor of the Tenosynovium; tendon sheath giant cell neoplasm; ten
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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