Preferred Name

Medulloblastoma

ID

http://www.orpha.net/ORDO/Orphanet_616

definition

A rare embryonic tumor of the neuroepithelial tissue characterized clinically by increased intracranial pressure and cerebellar dysfunction, with the most common presenting symptoms being headache, vomiting, and ataxia. The disease can be classified according to histological (classic, anaplastic, large-cell, or desmoplatic medulloblastoma, or medulloblastoma with extensive nodularity) and molecular criteria (WNT-activated, sonic-hedgehog-activated, group 3, group 4).

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=616

has_age_of_onset

All ages

has_inheritance

Not applicable

hasDbXref

UMLS:C0025149

OMIM:155255

MeSH:D008527

MedDRA:10027107

ICD-11:2A00.10

ICD-10:C71.6

label

Medulloblastoma

notation

ORPHA:616

part_of

http://www.orpha.net/ORDO/Orphanet_251852

prefixIRI

ORDO:Orphanet_616

prefLabel

Medulloblastoma

present_in

Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000

United States AND has_annual_incidence_average_value : 0.74 AND has_annual_incidence_range : 1-9 / 1 000 000

Europe AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000

treeView

http://www.orpha.net/ORDO/Orphanet_251852

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.bioontology.org/ontology/OMIM/155255 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/MESH/D008527 Medical Subject Headings / 医学主题词表 LOOM
http://www.ebi.ac.uk/efo/EFO_0002939 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/DOID_0050902 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/NCIT_C3222 中国人类表型本体 / Human Phenotype Ontology China LOOM
http://purl.obolibrary.org/obo/HP_0002885 Human Phenotype Ontology / 人类表型本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007959 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU008963 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/MPATH_250 中国人类表型本体 / Human Phenotype Ontology China LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3222 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM