JSON

medulloblastoma

^ 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 ]

Term info

database cross reference
  • DOID:0050902 (MONDO:equivalentTo)
  • MESH:D008527 (Orphanet:616/e)
  • UMLS:C0025149 (Orphanet:616/e)
  • EFO:0002939 (MONDO:equivalentTo)
  • Orphanet:616 (OMIM:155255)
  • SCTID:443333004 (MONDO:equivalentTo)
  • ICDO:9470/3 (NCIT:C3222)
  • UMLS:C1334410 (MONDO:equivalentTo)
  • DOID:0060104 (MONDO:equivalentTo)
  • OMIM:155255 (Orphanet:616/e)
  • MedDRA:10027107 (Orphanet:616/e)
  • ONCOTREE:MBL (MONDO:equivalentTo)
  • GARD:0007005 (MONDO:equivalentTo)
  • NCIT:C3222 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
CPNET [ DOID:0050902 ]

abbreviation
MDB [ OMIM:155255 MONDO:Lexical ]

IAO 0000233

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

closeMatch

http://identifiers.org/meddra/10027107

definition

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.

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://identifiers.org/snomedct/443333004, http://identifiers.org/mesh/D008527, http://linkedlifedata.com/resource/umls/id/C1334410, http://purl.obolibrary.org/obo/Orphanet_616, http://linkedlifedata.com/resource/umls/id/C0025149

has exact synonym

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

has related synonym

cerebellar medulloblastoma, CPNET, infratentorial primitive neuroectodermal tumor, medulloblastoma, Desmoplastic, localized primitive neuroectodermal tumor, medulloblastoma with extensive nodularity, MDB, CNS PNET

id

MONDO:0007959

seeAlso

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