Supratentorial Ependymoma, YAP1-MAMLD1 Fusion-Positive

Preferred Label : Supratentorial Ependymoma, YAP1-MAMLD1 Fusion-Positive;

NCIt synonyms : Supratentorial Ependymoma, YAP1::MAMLD1 Fusion-Positive;

NCIt definition : A supratentorial ependymoma characterized by a gene fusion involving YAP1 and MAMLD1 genes.;

Neoplastic status : Undetermined;

NCI Metathesaurus CUI : CL1778542;

Details

Origin ID

C186355;

UMLS CUI

C5670480;

Disease may have findings
- Calcification [NCIt concept]
Excludes anatomical site(s)
- Spinal Cord [NCIt concept]
Has associated anatomic sites
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
- Supratentorial Brain [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
Validated automatic mappings to NTBT
- YAP1-MAMLD1 fusion-positive supratentorial ependymoma [DO Concept]
disease_excludes_finding
- Anaplastic Lesion [NCIt concept]
- High Mitotic Activity [NCIt concept]
- No Evidence of YAP1 and ZFTA Gene Rearrangements Present [NCIt concept]
- Precise Histogenesis Unknown [NCIt concept]
disease_has_abnormal_cell
- Neoplastic Cell [NCIt concept]
- Neoplastic Ependymal Cell [NCIt concept]
- Neoplastic Glial Cell [NCIt concept]
- Neoplastic Neuroepithelial Cell [NCIt concept]
- Neoplastic Neuroepithelial Cell and Neoplastic Perineural Cell [NCIt concept]
disease_has_finding
- Childhood Lesion [NCIt concept]
- Monomorphic Cellular Infiltrate [NCIt concept]
- Slow Growing Mass [NCIt concept]
- Well-Circumscribed Lesion [NCIt concept]
disease_has_grade
- Grade 2 [NCIt concept]
- Low Grade [NCIt concept]
disease_has_molecular_abnormality
- YAP1 Gene Rearrangement [NCIt concept]
disease_has_normal_cell_origin
- Ependymal Cell [NCIt concept]
- Glial Cell [NCIt concept]
- Neuroepithelial Cell [NCIt concept]
- Neuron, Neuroepithelial Cell, and Supporting Cell of the Nervous System [NCIt concept]
disease_has_normal_tissue_origin
- Ependyma and Remnants of the Central Canal of the Spinal Cord [NCIt concept]
- Nerve Tissue, Neuroepithelial Tissue, and Nerve Sheaths [NCIt concept]
- Neuroepithelial Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Supratentorial Brain [NCIt concept]
disease_mapped_to_gene
- YAP1 Gene [NCIt concept]
- YAP1/MAMLD1 Fusion Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- YAP1/MAMLD1 Fusion Gene [NCIt concept]

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