loading...| Preferred Name |
medulloblastoma |
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| Synonyms |
cerebellum embryonal neoplasm medulloblastoma brain medulloblastoma Medulloblastomas medulloblastoma, malignant medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation medulloblastomas cerebellar medulloblastoma medulloblastoma, somatic medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation infratentorial primitive neuroectodermal tumor medulloblastoma, Desmoplastic localized primitive neuroectodermal tumor medulloblastoma with extensive nodularity CNS PNET CPNET MDB medulloblastoma, desmoplastic localised primitive neuroectodermal tumour infratentorial primitive neuroectodermal tumour |
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| Definitions |
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. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0002939 |
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| closeMatch |
http://identifiers.org/snomedct/55045006 http://identifiers.org/snomedct/189933000 http://identifiers.org/snomedct/83217000 http://identifiers.org/snomedct/39781001 http://identifiers.org/mesh/D018242 http://identifiers.org/snomedct/189921005 |
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| database_cross_reference |
ICDO:9470/3 MESH:D008527 UMLS:C0025149 SCTID:443333004 DOID:0050902 UMLS:C1334410 OMIM:155255 MedDRA:10027107 GARD:0007005 ICD10:C71.6 NCIT:C3222 EFO:0002939 icd11.foundation:290815825 Orphanet:616 NORD:1422 DOID:0060104 MONDO:0007959 ONCOTREE:MBL GARD:7005 |
|
| 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. |
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| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0025149 http://purl.obolibrary.org/obo/NCIT_C3222 http://purl.obolibrary.org/obo/DOID_0060104 http://identifiers.org/snomedct/443333004 http://purl.obolibrary.org/obo/DOID_0050902 |
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| has_exact_synonym |
cerebellum embryonal neoplasm medulloblastoma brain medulloblastoma Medulloblastomas medulloblastoma, malignant medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation medulloblastomas cerebellar medulloblastoma medulloblastoma, somatic medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation |
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| has_related_synonym |
infratentorial primitive neuroectodermal tumor medulloblastoma, Desmoplastic localized primitive neuroectodermal tumor medulloblastoma with extensive nodularity CNS PNET CPNET MDB medulloblastoma, desmoplastic localised primitive neuroectodermal tumour cerebellar medulloblastoma infratentorial primitive neuroectodermal tumour |
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| IAO_0000233 | ||
| id |
EFO:0002939 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| label |
medulloblastoma |
|
| notation |
EFO:0002939 |
|
| prefLabel |
medulloblastoma |
|
| see also |
https://rarediseases.info.nih.gov/diseases/7005/medulloblastoma |
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| subClassOf |