ELP1-Associated Medulloblastoma

Preferred Label : ELP1-Associated Medulloblastoma;

NCIt synonyms : ELP1-Associated Medulloblastoma, SHH-Activated, TP53-Wildtype;

NCIt definition : An SHH-activated, TP53-wildtype medulloblastoma caused by germline ELP1 gene variations and develops during childhood.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL1778852;

Details

Origin ID

C186591;

UMLS CUI

C5670652;

Disease may have findings
- Ataxic Gait [NCIt concept]
- Headache [NCIt concept]
- Vomiting [NCIt concept]
Excludes anatomical site(s)
- Spinal Cord [NCIt concept]
Has associated anatomic sites
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Cerebellum [NCIt concept]
- Infratentorial Brain [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Indolent Clinical Course [NCIt concept]
- Multilayered Rosette Formation [NCIt concept]
disease_excludes_molecular_abnormality
- TP53 Gene Mutation [NCIt concept]
disease_excludes_normal_tissue_origin
- Germinal Layer [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Malignant Neuroectodermal Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
disease_has_associated_disease
- ELP1-Medulloblastoma Syndrome [NCIt concept]
disease_has_finding
- Malignant Cellular Infiltrate [NCIt concept]
- Poorly Differentiated Lesion [NCIt concept]
- Sonic Hedgehog/Patch Pathway Activated [NCIt concept]
disease_has_grade
- Grade 4 [NCIt concept]
disease_has_molecular_abnormality
- Germline ELP1 Gene Variation [NCIt concept]
disease_has_normal_cell_origin
- Embryonic Cell [NCIt concept]
disease_has_normal_tissue_origin
- Embryonic Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Cerebellum [NCIt concept]
disease_mapped_to_gene
- ELP1 Gene [NCIt concept]
may_be_associated_disease_of_disease
- ELP1-Medulloblastoma Syndrome [NCIt concept]
pathogenesis_of_disease_involves_gene
- ELP1 Gene [NCIt concept]
- ELP1 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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