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: angiomyolipoma (MONDO:0002603)
Parent Node: liver neoplasm (MONDO:0004721)
..Starting node ..hepatic angiomyolipoma ()
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:	2605
Name:	hepatic angiomyolipoma
Definition:	An angiomyolipoma arising from the liver.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	liver angiomyolipoma; liver PEComa
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: FBN2;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal