Hereditary Melanoma with CDK4 Mutation

Preferred Label : Hereditary Melanoma with CDK4 Mutation;

NCIt synonyms : Hereditary Melanoma with CDK4 Gene Mutation; Familial Cutaneous Melanoma with CDK4 Mutation; Hereditary Cutaneous Melanoma with CDK4 Gene Mutation; Familial Melanoma with CDK4 Gene Mutation; Familial Melanoma with CDK4 Mutation; Hereditary Cutaneous Melanoma with CDK4 Mutation; Familial Cutaneous Melanoma with CDK4 Gene Mutation;

NCIt definition : A hereditary cutaneous melanoma caused by germline mutation(s) in the CDK4 gene.;

Neoplastic status : Malignant;

Details

Origin ID

C207624;

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]
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
- Germline CDK4 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
- CDK4 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- CDK4 Gene [NCIt concept]
- CDK4 wt Allele [NCIt concept]

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