Cutaneous Malignant Melanoma 2

Preferred Label : Cutaneous Malignant Melanoma 2;

NCIt synonyms : CMM2;

NCIt definition : An autosomal dominant genetic disorder caused by mutations in the CDKN2A gene, encoding cyclin-dependent kinase inhibitor 2A. The condition is characterized by cutaneous malignant melanoma associated with this genetic alteration.;

Neoplastic status : Malignant;

Details

Origin ID

C128801;

UMLS CUI

C4283859;

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]
See also inter- (CISMeF)
- Melanoma, cutaneous malignant, susceptibility to, 2 [OMIM Phenotype]
- cyclin dependent kinase inhibitor 2A [ORDO Gene]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Melanoma Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Melanocyte [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
- Hereditary Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
disease_has_molecular_abnormality
- CDKN2A 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
- CDKN2A Gene [NCIt concept]
disease_may_have_associated_disease
- Pancreatic Carcinoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- CDKN2A Gene [NCIt concept]
- CDKN2A wt Allele [NCIt concept]
related_to_genetic_biomarker
- CDKN2A Gene [NCIt concept]

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