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: inflammatory myofibroblastic tumor (MONDO:0015798)
Parent Node: liver neoplasm (MONDO:0004721)
..Starting node ..liver inflammatory myofibroblastic tumor ()
Child Nodes:
Sister Nodes:
..biliary tract neoplasm (disease) ()
..hepatic angiomyolipoma ()
..hepatic granuloma ()
..hepatocellular adenoma ()
..liver cancer ()
..liver hemangioma ()
..liver inflammatory myofibroblastic tumor ()
..liver leiomyoma ()
..liver lipoma ()
..liver mesenchymal hamartoma ()
..liver solitary fibrous tumor ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	4726
Name:	liver inflammatory myofibroblastic tumor
Definition:	A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	hepatic inflammatory myofibroblastic tumor; inflammatory pseudotumor of liver; inflammatory pseudotumor of the liver; liver inflammatory myofibroblastic tumor; liver inflammatory pseudotumor
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: PYGL;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal