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: fibroma (MONDO:0005167)
Parent Node: tendon sheath disorder (MONDO:0024876)
..Starting node ..tendon sheath fibroma ()
Child Nodes:
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:	6442
Name:	tendon sheath fibroma
Definition:	A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	fibroma of tendon sheath; fibroma of the tendon sheath; tendon sheath fibroma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: CAPN3;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal