Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Retinoblastoma
Synonyms
Definitions

A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral.

ID

http://www.orpha.net/ORDO/Orphanet_790

definition

A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=790

has_age_of_onset

Antenatal

Childhood

Infancy

has_inheritance

Not applicable

Autosomal dominant

hasDbXref

MedDRA:10038916

ICD-10:C69.2

MeSH:D012175

UMLS:C0035335

OMIM:180200

ICD-11:2D02.2

label

Retinoblastoma

notation

ORPHA:790

part_of

http://www.orpha.net/ORDO/Orphanet_101950

prefixIRI

ORDO:Orphanet_790

prefLabel

Retinoblastoma

present_in

Italy AND has_annual_incidence_average_value : 0.045 AND has_annual_incidence_range : <1 / 1 000 000

Europe AND has_lifetime_prevalence_average_value : 1.05 AND has_lifetime_prevalence_range : 1-9 / 100 000

Ireland AND has_annual_incidence_average_value : 0.071 AND has_annual_incidence_range : <1 / 1 000 000

Norway AND has_annual_incidence_average_value : 0.071 AND has_annual_incidence_range : <1 / 1 000 000

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

Korea, Republic of AND has_birth_prevalence_average_value : 5.9 AND has_birth_prevalence_range : 1-9 / 100 000

Latvia AND has_annual_incidence_average_value : 0.016 AND has_annual_incidence_range : <1 / 1 000 000

Croatia AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000

Worldwide AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000

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

Portugal AND has_annual_incidence_average_value : 0.047 AND has_annual_incidence_range : <1 / 1 000 000

Poland AND has_annual_incidence_average_value : 0.038 AND has_annual_incidence_range : <1 / 1 000 000

Europe AND has_point_prevalence_range : Unknown

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

Slovenia AND has_annual_incidence_average_value : 0.038 AND has_annual_incidence_range : <1 / 1 000 000

Taiwan, Province of China AND has_birth_prevalence_average_value : 4.6 AND has_birth_prevalence_range : 1-9 / 100 000

Estonia AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000

United Kingdom AND has_annual_incidence_average_value : 0.071 AND has_annual_incidence_range : <1 / 1 000 000

Japan AND has_birth_prevalence_average_value : 5.05 AND has_birth_prevalence_range : 1-9 / 100 000

Europe AND has_annual_incidence_average_value : 0.05 AND has_annual_incidence_range : <1 / 1 000 000

Bulgaria AND has_annual_incidence_average_value : 0.035 AND has_annual_incidence_range : <1 / 1 000 000

Belgium AND has_annual_incidence_average_value : 0.073 AND has_annual_incidence_range : <1 / 1 000 000

Malta AND has_annual_incidence_average_value : 0.094 AND has_annual_incidence_range : <1 / 1 000 000

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

Austria AND has_annual_incidence_average_value : 0.018 AND has_annual_incidence_range : <1 / 1 000 000

Finland AND has_annual_incidence_average_value : 0.053 AND has_annual_incidence_range : <1 / 1 000 000

Switzerland AND has_annual_incidence_average_value : 0.039 AND has_annual_incidence_range : <1 / 1 000 000

Spain AND has_annual_incidence_average_value : 0.048 AND has_annual_incidence_range : <1 / 1 000 000

Netherlands AND has_annual_incidence_average_value : 0.107 AND has_annual_incidence_range : 1-9 / 1 000 000

treeView

http://www.orpha.net/ORDO/Orphanet_101950

subClassOf

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

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

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Create mapping

Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_790 CCONT SAME_URI
http://www.orpha.net/ORDO/Orphanet_790 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_790 EFO SAME_URI
http://localhost/plosthes.2017-1#10052 PLOSTHES LOOM
http://nanbyodata.jp/ontology/NANDO_2200042 NANDO LOOM
http://purl.bioontology.org/ontology/OMIM/180200 OMIM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/370967009 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.557.580.625.600.725 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C7541 BERO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10038916 MEDDRA LOOM
http://radlex.org/RID/RID4472 RADLEX LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#10813 OCHV LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0035335 MEDLINEPLUS LOOM
http://purl.obolibrary.org/obo/HP_0009919 HP LOOM
http://purl.obolibrary.org/obo/HP_0009919 UPHENO LOOM
http://purl.bioontology.org/ontology/MESH/D012175 MESH LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12635 BIRNLEX LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000043733 PDQ LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:2420 IFAR LOOM
http://www.co-ode.org/ontologies/galen#Retinoblastoma GALEN LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.557.470.670.725 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_122 HRDO LOOM
http://purl.bioontology.org/ontology/CSP/2018-3452 CRISP LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/19906005 SNOMEDCT LOOM
https://github.com/sap218/ocimido/blob/master/ontology/ocimido.owl#OCIMIDO_00051 OCIMIDO LOOM
http://purl.obolibrary.org/obo/OMIT_0013095 OMIT LOOM
http://purl.bioontology.org/ontology/RCD/X00eS RCD LOOM
http://purl.obolibrary.org/obo/MONDO_0008380 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008380 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008380 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008380 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008380 DOVES LOOM
http://purl.obolibrary.org/obo/MPATH_378 MPATH LOOM
http://purl.obolibrary.org/obo/MPATH_378 UPHENO LOOM
http://purl.obolibrary.org/obo/MPATH_378 ZP LOOM
http://purl.bioontology.org/ontology/WHO/1682 WHO-ART LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7541 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D012175 RH-MESH LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Retinoblastoma PEDTERM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0035335 OCHV LOOM
rgo:08014 GAMUTS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12635 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12635 NIFSTD LOOM
http://purl.bioontology.org/ontology/ICPC2P/F74006 ICPC2P LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_768 NATPRO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085679 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.588.364.818.760 RH-MESH LOOM
http://purl.bioontology.org/ontology/LNC/LA16305-7 LOINC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.557.465.625.600.725 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_768 CLO LOOM
http://purl.obolibrary.org/obo/DOID_768 DTO LOOM
http://purl.obolibrary.org/obo/DOID_768 DOID LOOM
http://purl.obolibrary.org/obo/DOID_768 BAO LOOM
http://purl.obolibrary.org/obo/DOID_768 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_768 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_768 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_768 FNS-H LOOM
http://www.limics.org/hrdo/rdfns#sgn_id_50730 HRDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Retinoblastoma CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.319.475.760 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.768.717.760 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU034783 OMIM LOOM
http://www.gamuts.net/entity#retinoblastoma GAMUTS REST