Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Hepatoblastoma

Synonyms
Definitions

A malignant hepatic tumor, typically affecting the pediatric population, arising mostly in an otherwise healthy liver. The most common signs are abdominal distension and abdominal mass. Sometimes patients present with anorexia, weight loss, fatigue. Most HBLs are sporadic, but some cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy, and familial adenomatous polyposis (FAP).

ID

http://www.orpha.net/ORDO/Orphanet_449

definition

A malignant hepatic tumor, typically affecting the pediatric population, arising mostly in an otherwise healthy liver. The most common signs are abdominal distension and abdominal mass. Sometimes patients present with anorexia, weight loss, fatigue. Most HBLs are sporadic, but some cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy, and familial adenomatous polyposis (FAP).

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449

has_age_of_onset

Childhood

Infancy

Neonatal

has_inheritance

Not applicable

hasDbXref

MedDRA:10062001

ICD-11:2C12.01

OMIM:114550

ICD-10:C22.2

UMLS:C0206624

MeSH:D018197

label

Hepatoblastoma

notation

ORPHA:449

part_of

http://www.orpha.net/ORDO/Orphanet_306636

prefixIRI

ORDO:Orphanet_449

prefLabel

Hepatoblastoma

present_in

Norway AND has_annual_incidence_average_value : 0.033 AND has_annual_incidence_range : <1 / 1 000 000

Germany AND has_annual_incidence_average_value : 0.021 AND has_annual_incidence_range : <1 / 1 000 000

Bulgaria AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000

United Kingdom AND has_annual_incidence_average_value : 0.028 AND has_annual_incidence_range : <1 / 1 000 000

Estonia AND has_annual_incidence_average_value : 0.046 AND has_annual_incidence_range : <1 / 1 000 000

Lithuania AND has_annual_incidence_average_value : 0.004 AND has_annual_incidence_range : <1 / 1 000 000

Croatia AND has_annual_incidence_average_value : 0.042 AND has_annual_incidence_range : <1 / 1 000 000

Spain AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000

Italy AND has_annual_incidence_average_value : 0.017 AND has_annual_incidence_range : <1 / 1 000 000

Ireland AND has_annual_incidence_average_value : 0.043 AND has_annual_incidence_range : <1 / 1 000 000

Slovenia AND has_annual_incidence_average_value : 0.025 AND has_annual_incidence_range : <1 / 1 000 000

Czech Republic AND has_annual_incidence_average_value : 0.005 AND has_annual_incidence_range : <1 / 1 000 000

Malta AND has_annual_incidence_average_value : 0.031 AND has_annual_incidence_range : <1 / 1 000 000

Slovakia AND has_annual_incidence_average_value : 0.032 AND has_annual_incidence_range : <1 / 1 000 000

Europe AND has_annual_incidence_average_value : 0.02 AND has_annual_incidence_range : <1 / 1 000 000

Belgium AND has_annual_incidence_average_value : 0.019 AND has_annual_incidence_range : <1 / 1 000 000

Switzerland AND has_annual_incidence_average_value : 0.011 AND has_annual_incidence_range : <1 / 1 000 000

Portugal AND has_annual_incidence_average_value : 0.008 AND has_annual_incidence_range : <1 / 1 000 000

Austria AND has_annual_incidence_average_value : 0.009 AND has_annual_incidence_range : <1 / 1 000 000

Netherlands AND has_annual_incidence_average_value : 0.032 AND has_annual_incidence_range : <1 / 1 000 000

Poland AND has_annual_incidence_average_value : 0.023 AND has_annual_incidence_range : <1 / 1 000 000

Finland AND has_annual_incidence_average_value : 0.031 AND has_annual_incidence_range : <1 / 1 000 000

Latvia AND has_annual_incidence_average_value : 0.022 AND has_annual_incidence_range : <1 / 1 000 000

treeView

http://www.orpha.net/ORDO/Orphanet_306636

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0002884 MAXO LOOM
http://purl.obolibrary.org/obo/MONDO_0018666 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200046 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_687 DOID LOOM
http://www.ebi.ac.uk/efo/EFO_1000292 EFO LOOM
http://purl.obolibrary.org/obo/HP_0002884 HP LOOM
rgo:02022 GAMUTS LOOM
rgo:02022 GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_687 DOID LOOM
http://purl.bioontology.org/ontology/SNMI/M-89703 SNMI LOOM
http://purl.bioontology.org/ontology/ICD10/C22.2 ICD10 LOOM
http://purl.obolibrary.org/obo/NCIT_C3728 BERO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085347 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/HP_0002884 HP LOOM
http://purl.obolibrary.org/obo/HP_0002884 UPHENO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/45024009 SNOMEDCT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_687 NATPRO LOOM
http://www.gamuts.net/entity#hepatoblastoma GAMUTS LOOM
http://www.limics.org/hrdo/rdfns#sgn_id_50280 HRDO LOOM
http://purl.obolibrary.org/obo/MPATH_356 MPATH LOOM
http://purl.obolibrary.org/obo/MPATH_356 UPHENO LOOM
http://purl.obolibrary.org/obo/MPATH_356 ZP LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/109843000 SNOMEDCT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0206624 OCHV LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Hepatoblastoma PEDTERM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.557.435.380 RH-MESH LOOM
http://purl.jp/bio/4/id/200906030702369005 IOBC LOOM
http://purl.bioontology.org/ontology/ICD10CM/C22.2 NLMVS LOOM
http://purl.bioontology.org/ontology/ICD10CM/C22.2 ICD10CM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#20975 OCHV LOOM
http://purl.bioontology.org/ontology/MEDDRA/10062001 MEDDRA LOOM
http://purl.obolibrary.org/obo/MONDO_0018666 DOVES LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU007922 OMIM LOOM
http://purl.bioontology.org/ontology/CSP/4003-0022 CRISP LOOM
http://purl.bioontology.org/ontology/MESH/D018197 MESH LOOM
http://purl.obolibrary.org/obo/DOID_687 DTO LOOM
http://purl.obolibrary.org/obo/DOID_687 BAO LOOM
http://purl.obolibrary.org/obo/DOID_687 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_687 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_687 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_687 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIT_0018430 OMIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_836 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D018197 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3728 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hepatoblastoma CSEO LOOM
http://radlex.org/RID/RID4530 RADLEX LOOM
http://purl.bioontology.org/ontology/RCD/BBL8. RCD LOOM
http://id.nlm.nih.gov/mesh/D018197 MDM LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0206624 MEDLINEPLUS LOOM
http://scai.fraunhofer.de/CSEO#Hepatoblastoma CSEO LOOM
http://www.gamuts.net/entity#hepatoblastoma GAMUTS REST
http://www.gamuts.net/entity#hepatoblastoma GAMUTS REST
http://www.gamuts.net/entity#hepatoblastoma GAMUTS REST