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: biliary tract disease (MONDO:0004868)
Parent Node: liver neoplasm (MONDO:0004721)
..Starting node ..biliary tract neoplasm (disease) ()
Child Nodes:
........bile duct neoplasm ()
........biliary tract cancer ()
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:	5304
Name:	biliary tract neoplasm (disease)
Definition:	A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	biliary tract neoplasm; biliary tree neoplasm; biliary tree neoplasm (disease); biliary tree tumor; extrahepatic bile duct neoplasm; neoplasm of biliary tree; neoplasm of extrahepatic bile ducts; tumor of biliary tree; tumor of the extrahepatic bile duct
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal