BAP1-Inactivated Melanocytoma

Preferred Label : BAP1-Inactivated Melanocytoma;

NCIt synonyms : BAP1-Inactivated Cutaneous Melanocytoma;

NCIt definition : A cutaneous melanocytoma with inactivation of BAP1, highly atypical large epithelioid cells, and marked pleomorphism.;

Neoplastic status : Benign;

NCI Metathesaurus CUI : CL978689;

Details

Origin ID

C165525;

UMLS CUI

C5237244;

Disease may have findings
- HMB-45-Positive Neoplastic Cells Present [NCIt concept]
- S-100-Positive Neoplastic Cells Present [NCIt concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
- Skin [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_has_abnormal_cell
- Atypical Epithelioid Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Melanocyte [NCIt concept]
disease_has_finding
- Cellular Pleomorphism [NCIt concept]
- Cutaneous Involvement [NCIt concept]
disease_has_molecular_abnormality
- BAP1 Gene Mutation [NCIt concept]
disease_has_normal_cell_origin
- Melanocyte [NCIt concept]
disease_has_normal_tissue_origin
- Skin Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]
disease_mapped_to_gene
- BAP1 Gene [NCIt concept]

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