Preferred Name

Retinoblastoma

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

ICD-10:C69.2

MeSH:D012175

OMIM:180200

MedDRA:10038916

ICD-11:2D02.2

UMLS:C0035335

label

Retinoblastoma

notation

ORPHA:790

part_of

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

prefixIRI

ORDO:Orphanet_790

prefLabel

Retinoblastoma

present_in

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

Lithuania AND has_annual_incidence_average_value : 0.017 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

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

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

Europe AND has_point_prevalence_range : Unknown

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

Norway AND has_annual_incidence_average_value : 0.071 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

Slovenia AND has_annual_incidence_average_value : 0.038 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

Slovakia AND has_annual_incidence_average_value : 0.042 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

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

Ireland AND has_annual_incidence_average_value : 0.071 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

Spain AND has_annual_incidence_average_value : 0.048 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

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

Worldwide AND has_birth_prevalence_average_value : 6.0 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

Italy AND has_annual_incidence_average_value : 0.045 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

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

Estonia AND has_annual_incidence_average_value : 0.018 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

Germany AND has_annual_incidence_average_value : 0.033 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

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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Delete Mapping To Ontology Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7541 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/DOID_768 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_768 Cell Line Ontology Subset for Chinese National Infrastructure of Cell Line Resource (NICR) / 国家实验细胞资源共享服务平台(NICR)细胞系本体子集 LOOM
http://purl.obolibrary.org/obo/DOID_768 Human Disease Ontology / 人类疾病本体 LOOM
http://www.orpha.net/ORDO/Orphanet_790 Experimental Factor Ontology / 实验性因素本体 SAME_URI
http://purl.bioontology.org/ontology/LNC/LA16305-7 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/OMIM/180200 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/MESH/D012175 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU034783 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0035335 MedlinePlus Health Topics / MedlinePlus网站健康主题 LOOM
http://purl.obolibrary.org/obo/NCIT_C7541 中国人类表型本体 / Human Phenotype Ontology China LOOM
http://purl.bmicc.cn/ontology/ICD11CN/2D02.2 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM
http://purl.obolibrary.org/obo/MPATH_378 中国人类表型本体 / Human Phenotype Ontology China LOOM
http://purl.obolibrary.org/obo/MONDO_0008380 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0008380 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/HP_0009919 Human Phenotype Ontology / 人类表型本体 LOOM