Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

HEPATOCELLULAR CARCINOMA
Synonyms

HEPATOBLASTOMA CAUSED BY SOMATIC MUTATION
ID

http://purl.bioontology.org/ontology/OMIM/114550
altLabel

HEPATOBLASTOMA CAUSED BY SOMATIC MUTATION

LIVER CELL CARCINOMA

HEPATOMA

LIVER CANCER

HCC

LCC

CANCER, HEPATOCELLULAR

HEPATOBLASTOMA
cui

C2676033

C2239176

C0345904

C0206624
Gene Locus

5q22.2
Gene Symbol

APC

FPC

GS

BTPS2

DESMD
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU014557

http://purl.bioontology.org/ontology/OMIM/MTHU019146

http://purl.bioontology.org/ontology/OMIM/MTHU019145

http://purl.bioontology.org/ontology/OMIM/MTHU019144

http://purl.bioontology.org/ontology/OMIM/MTHU008946
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

142333

142380
notation

114550
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

HEPATOCELLULAR CARCINOMA
Scope Statement

Associated with mutation in the MET protooncogene (MET, 164860.0008) [MOLECULAR BASIS]

Associated with mutation in the beta-1 catenin gene (CTNNB1, 116806.0013) [MOLECULAR BASIS]

Genetic heterogeneity [MISCELLANEOUS]

Associated with mutation in the p53 tumor protein gene (TP53, 191170.0006) [MOLECULAR BASIS]
tui

T191
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C567299 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10007416 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10048491 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10049010 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10073071 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10019838 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10024658 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D006528 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10019838 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10049010 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10048491 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1186630006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/1186630006 SCTSPA CUI
http://purl.bioontology.org/ontology/CST/HEPATOMA COSTART CUI
http://purl.bioontology.org/ontology/SCTSPA/25370001 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/109841003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/D006528 MESH CUI
http://purl.bioontology.org/ontology/WHO/1023 WHO-ART CUI
http://purl.bioontology.org/ontology/WHOFRE/1023 WHOFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/C22.0 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10024658 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10048491 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/187769009 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/B1503 RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10024658 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10073071 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10019838 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10/C22.0 ICD10 CUI
http://purl.bioontology.org/ontology/CST/CARCINOMA%20LIVER COSTART CUI
http://purl.bioontology.org/ontology/MEDDRA/10007416 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/25370001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/2003-4684 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10049010 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/109841003 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/M-81703 SNMI CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001511 NDFRT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/187769009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10007416 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10073071 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C2239176 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/ICPC2P/D77001 ICPC2P CUI
http://purl.bioontology.org/ontology/MDRGER/10024720 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10019699 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10019711 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10019697 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10073832 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10019703 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10025623 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10073069 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10025627 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10026080 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10025572 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10025627 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10/C22.9 ICD10 CUI
http://purl.bioontology.org/ontology/MEDDRA/10025627 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10024720 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10019699 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10024720 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10019711 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10026080 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10019699 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10025623 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0345904 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/SNMI/D5-F1503 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10019703 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD9CM/155.2 ICD9CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10025572 MEDDRA CUI
http://purl.bioontology.org/ontology/WHO/0854 WHO-ART CUI
http://purl.bioontology.org/ontology/RCD/Xa97q RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10073832 MDRFRE CUI
http://purl.bioontology.org/ontology/CST/HEPATOMA COSTART CUI
http://purl.bioontology.org/ontology/MDRFRE/10019711 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10073832 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10073069 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10073069 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10019703 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/C22.9 ICD10CM CUI
http://purl.bioontology.org/ontology/CSP/2003-2810 CRISP CUI
http://purl.bioontology.org/ontology/ICPC2P/D77012 ICPC2P CUI
http://purl.bioontology.org/ontology/MSHFRE/D008113 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10025572 MDRFRE CUI
http://purl.bioontology.org/ontology/WHOFRE/0854 WHOFRE CUI
http://purl.bioontology.org/ontology/MESH/D008113 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10025623 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10026080 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/93870000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/93870000 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10019697 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10019697 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10019822 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10019825 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10062001 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/M-89703 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10019825 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10/C22.2 ICD10 CUI
http://purl.bioontology.org/ontology/MEDDRA/10019822 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/45024009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000043722 PDQ CUI
http://purl.bioontology.org/ontology/MDRFRE/10019822 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/109843000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10019825 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/C22.2 ICD10CM CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003671 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10062001 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10062001 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/45024009 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D018197 MSHFRE CUI
http://purl.bioontology.org/ontology/CSP/4003-0022 CRISP CUI
http://purl.bioontology.org/ontology/RCD/B1501 RCD CUI
http://purl.bioontology.org/ontology/MESH/D018197 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/109843000 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/BBL8. RCD CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0206624 MEDLINEPLUS CUI
http://purl.obolibrary.org/obo/MONDO_0007256 OBA LOOM
http://www.ebi.ac.uk/efo/EFO_0000182 EFO LOOM
rgo:02104 GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_684 CLO LOOM
http://purl.obolibrary.org/obo/DOID_684 DOID LOOM
rgo:02104 GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0007256 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007256 OBA LOOM
http://nanbyodata.jp/ontology/NANDO_2200047 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_684 DOID LOOM
http://purl.obolibrary.org/obo/DOID_684 BMONT LOOM
http://purl.obolibrary.org/obo/DOID_684 VO LOOM
http://radlex.org/RID/RID4271 RADLEX LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hepatocellular_Carcinoma CSEO LOOM
http://purl.obolibrary.org/obo/MONDO_0007256 GCBO LOOM
http://purl.obolibrary.org/obo/MONDO_0007256 DOVES LOOM
http://purl.obolibrary.org/obo/MPATH_357 MPATH LOOM
http://purl.obolibrary.org/obo/MPATH_357 UPHENO LOOM
http://purl.obolibrary.org/obo/MPATH_357 ZP LOOM
urn:agi-pathway:uuid-7bfe358f-42c1-477f-b4b7-f6ef12486abd BPT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_684 NATPRO LOOM
https://github.com/sap218/coid/blob/master/coid.owl#COID_00986 COID LOOM
http://www.semanticweb.org/david/ontologies/2013/0/pathLex.owl#1.3.6.1.4.1.19376.1.8.2.1.898 PATHLEX LOOM
http://scai.fraunhofer.de/CSEO#Hepatocellular_Carcinoma CSEO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11824 HRDO LOOM
http://purl.bioontology.org/ontology/RCD/B1503 RCD LOOM
http://purl.obolibrary.org/obo/NCIT_C3099 BERO LOOM
http://purl.obolibrary.org/obo/HP_0001402 HP LOOM
http://purl.obolibrary.org/obo/HP_0001402 UPHENO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00005815 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/OMIM_114550 CCO LOOM
urn:agi-folder:hepatocellular_carcinoma BPT LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Hepatocellular_carcinoma RPO LOOM
http://www.orpha.net/ORDO/Orphanet_88673 ORDO LOOM
http://identifiers.org/omim/114550 REXO LOOM
http://identifiers.org/omim/114550 GEXO LOOM
http://identifiers.org/omim/114550 RETO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/25370001 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/DOID_684 CLO LOOM
http://purl.obolibrary.org/obo/DOID_684 DTO LOOM
http://purl.obolibrary.org/obo/DOID_684 BAO LOOM
http://purl.obolibrary.org/obo/DOID_684 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_684 ODAE LOOM
http://purl.obolibrary.org/obo/DOID_684 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_684 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_684 OHMI LOOM
http://purl.obolibrary.org/obo/DOID_684 FNS-H LOOM
http://www.gamuts.net/entity#hepatocellular_carcinoma GAMUTS LOOM
http://purl.bioontology.org/ontology/CSP/2003-4684 CRISP LOOM
http://localhost/plosthes.2017-1#742 PLOSTHES LOOM
http://purl.bioontology.org/ontology/MEDDRA/10073071 MEDDRA LOOM
http://purl.bioontology.org/ontology/RCTV2/B150300 RCTV2 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3099 NCIT LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C2239176 MEDLINEPLUS LOOM