MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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: extrahepatic bile duct neoplasm (MONDO:0021385)
Parent Node: liver lipoma (MONDO:0000965)
..Starting node ..extrahepatic bile duct lipoma ()
Child Nodes:
Sister Nodes:
..extrahepatic bile duct lipoma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	978
Name:	extrahepatic bile duct lipoma
Definition:	A rare benign adipose tissue neoplasm of the extrahepatic bile duct.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	extrahepatic bile duct lipoma; lipoma of extrahepatic bile duct; lipoma of the extrahepatic bile duct
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal