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: adenoma (MONDO:0004972)
Parent Node: benign digestive system neoplasm (MONDO:0000385)
Parent Node: benign endocrine neoplasm (MONDO:0000627)
Parent Node: benign epithelial neoplasm (MONDO:0036976)
Parent Node: liver neoplasm (MONDO:0004721)
Parent Node: rare epithelial tumor of liver and intrahepatic biliary tract (MONDO:0018530)
..Starting node ..hepatocellular adenoma ()
Child Nodes:
........hepatic adenomas, familial ()
Sister Nodes:
..carcinoma of liver and intrahepatic biliary tract ()
..hepatocellular adenoma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18902
Name:	hepatocellular adenoma
Definition:	A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	adenoma of liver cells; adenoma of the liver cells; adenoma, hepatocellular, benign; HCA; hepatocellular adenoma; LIAD; liver cell adenoma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal