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medulloblastoma

Go to external page http://purl.obolibrary.org/obo/MONDO_0007959

A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity. [ NCIT:C3222 ]

Synonyms: cerebellar medulloblastoma medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation cerebellum embryonal neoplasm medulloblastoma brain medulloblastoma medulloblastoma, malignant medulloblastomas medulloblastoma, somatic medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation

This is just here as a test because I lose it

Term information

database cross reference
  • ICDO:9470/3 (NCIT:C3222)
  • DOID:0050902 (MONDO:equivalentTo)
  • OMIM:155255 (Orphanet:616/e)
  • GARD:7005 (MONDO:GARD)
  • NORD:1422 (MONDO:NORD)
  • UMLS:C0025149 (MONDO:equivalentTo)
  • DOID:0060104 (MONDO:equivalentTo)
  • NCIT:C3222 (MONDO:equivalentTo)
  • SCTID:443333004 (MONDO:equivalentTo)
  • MEDGEN:7517 (MONDO:equivalentTo)
  • EFO:0002939 (MONDO:equivalentTo)
  • icd11.foundation:290815825 (https://orcid.org/0000-0002-4142-7153)
  • MedDRA:10027107 (Orphanet:616/e)
  • MESH:D008527 (Orphanet:616/e)
  • Orphanet:616 (OMIM:155255)
  • NANDO:2200090 (https://orcid.org/0000-0003-0011-764X)
  • ONCOTREE:MBL (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare, clingen

UK spelling synonym
infratentorial primitive neuroectodermal tumour

UK spelling synonym
localised primitive neuroectodermal tumour

ClinGen label
medulloblastoma [ MONDO:Lexical NCIT:C3222 https://omim.org/entry/155255 ]

abbreviation
CPNET [ DOID:0050902 ]

closeMatch

http://identifiers.org/meddra/10027107

exactMatch

http://purl.obolibrary.org/obo/DOID_0060104

http://purl.obolibrary.org/obo/DOID_0050902

http://purl.obolibrary.org/obo/NCIT_C3222

https://omim.org/entry/155255

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

http://identifiers.org/snomedct/443333004

http://linkedlifedata.com/resource/umls/id/C0025149

http://identifiers.org/medgen/7517

http://identifiers.org/mesh/D008527

has related synonym

CPNET

infratentorial primitive neuroectodermal tumor

localized primitive neuroectodermal tumor

MDB

CNS PNET

medulloblastoma with extensive nodularity

infratentorial primitive neuroectodermal tumour

localised primitive neuroectodermal tumour

medulloblastoma, desmoplastic

id

MONDO:0007959

seeAlso

https://rarediseases.info.nih.gov/diseases/7005/medulloblastoma

term tracker item

https://github.com/monarch-initiative/mondo/issues/4521