Melanoma, cutaneous malignant, susceptibility to, 8

Preferred Label : Melanoma, cutaneous malignant, susceptibility to, 8;

Symbol : CMM8;

CISMeF acronym : CMM8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Melanoma and renal cell carcinoma, susceptibility to;

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 cutaneous malignant melanoma, see CMM1 (155600).;

Prefixed ID : #614456;

Details

Origin ID

614456;

UMLS CUI

C3152204;

Automatic exact mappings (from CISMeF team)
- MITF wt Allele [NCIt concept]
- MITF-related melanoma and renal cell carcinoma predisposition syndrome [ORDO Disease]
- TYR wt Allele [NCIt concept]
Genes related to phenotype
- Microphthalmia-associated transcription factor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cutaneous melanoma [HPO term]
ORDO concept(s)
- MITF-related melanoma and renal cell carcinoma predisposition syndrome [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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