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: digestive system cancer (MONDO:0002516)
Parent Node: liver and intrahepatic bile duct neoplasm (MONDO:0024477)
Parent Node: liver neoplasm (MONDO:0004721)
Parent Node: malignant endocrine neoplasm (MONDO:0021069)
..Starting node ..liver cancer ()
Child Nodes:
........biliary tract cancer ()
........calcifying nested epithelial stromal tumor of the liver ()
........carcinoma of liver and intrahepatic biliary tract ()
........liver lymphoma ()
........liver sarcoma ()
Sister Nodes:
..adrenal gland cancer ()
..cervix melanoma ()
..childhood malignant melanoma ()
..cutaneous melanoma (disease) ()
..digestive system melanoma ()
..high-grade neuroendocrine carcinoma of the corpus uteri ()
..liver cancer ()
..low-grade neuroendocrine tumor of the corpus uteri ()
..maligant granulosa cell tumor of ovary ()
..malignant breast melanoma ()
..malignant carotid body paraganglioma ()
..malignant jugulotympanic paraganglioma ()
..malignant tumor of parathyroid gland ()
..neuroendocrine carcinoma ()
..ocular melanoma ()
..ovarian neuroendocrine neoplasm ()
..pineal gland cancer ()
..pituitary cancer ()
..primary melanoma of the central nervous system ()
..thymus cancer ()
..thyroid cancer ()
..vulvar melanoma (disease) ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2691
Name:	liver cancer
Definition:	An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Ca liver - primary; ca liver - primary; cancer of liver; hepatic cancer; hepatic neoplasm; liver cancer; malignant hepato-biliary neoplasm; malignant liver neoplasm; malignant neoplasm of liver; malignant neoplasm of liver, not specified as primary or secondary; malignant neoplasm of liver, primary;
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal