Melanoma, cutaneous malignant, susceptibility to, 3

Preferred Label : Melanoma, cutaneous malignant, susceptibility to, 3;

Symbol : CMM3;

CISMeF acronym : CMM3;

Type : Phenotype, molecular basis known;

Description : Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of malignant melanoma, see 155600.;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the cyclin-dependent kinase-4 gene (CDK4, 123829.0001);

Neoplasia : Malignant melanoma;

Prefixed ID : #609048;

Détails

Origin ID

609048;

UMLS CUI

C1836892;

Automatic exact mappings (from CISMeF team)
- CDK4 wt Allele [NCIt concept]
Genes related to phenotype
- Cyclin-dependent kinase 4 [OMIM gene]
HPO term(s)
- Atypical nevi in non-sun exposed areas [HPO term]
- Atypical nevus [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cutaneous melanoma [HPO term]
- Isolated cases [HPO term]
- Numerous nevi [HPO term]
ORDO concept(s)
- Familial melanoma [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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