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: liver neoplasm (MONDO:0004721)
Parent Node: mesenchymal hamartoma (MONDO:0024478)
..Starting node ..liver mesenchymal hamartoma ()
Child Nodes:
Sister Nodes:
..fibrous hamartoma of infancy ()
..liver mesenchymal hamartoma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18308
Name:	liver mesenchymal hamartoma
Definition:	A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	biliary hamartoma; hepatic cystic hamartoma; hepatic mesenchymal hamartoma; liver mesenchymal hamartoma; liver MH; mesenchymal hamartoma of liver; mesenchymal hamartoma of the liver; MHL; VMC; Von Meyenburg complexes disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal