PRKAR1A-Inactivated Pigmented Epithelioid Melanocytoma

Preferred Label : PRKAR1A-Inactivated Pigmented Epithelioid Melanocytoma;

NCIt synonyms : PRKAR1A-Inactivated PEM;

NCIt definition : A pigmented epithelioid melanocytoma that is associated with PRKAR1A gene inactivation.;

Neoplastic status : Undetermined;

NCI Metathesaurus CUI : CL1926610;

Details

Origin ID

C204574;

UMLS CUI

C5909822;

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
- Epithelioid Melanocyte [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Melanocyte [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
- Darkly Pigmented Melanophages Present [NCIt concept]
- Melanin-Pigmented Dendritic Cells Present [NCIt concept]
- Melanin-Pigmented Epithelioid Cells Present [NCIt concept]
disease_has_molecular_abnormality
- PRKAR1A Gene Inactivation [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
- PRKAR1A Gene [NCIt concept]
disease_may_have_associated_disease
- Carney Complex [NCIt concept]
pathogenesis_of_disease_involves_gene
- PRKAR1A Gene [NCIt concept]
- PRKAR1A wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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