Melanoma-Astrocytoma Syndrome

Preferred Label : Melanoma-Astrocytoma Syndrome;

NCIt synonyms : Melanoma and Neural System Tumor Syndrome;

NCIt definition : An inherited condition caused by autosomal dominant mutation(s) in the CDKN2A gene, encoding cyclin-dependent kinase inhibitor 2A. The condition is characterized by an increased risk of developing melanoma and/or cerebral astrocytoma.;

Details

Origin ID

C176905;

UMLS CUI

C1835042;

Currated CISMeF NLP mapping
- Melanoma and neural system tumor syndrome [ORDO Disease]
- Melanoma and neural system tumor syndrome (disorder) [SNOMED CT concept]
- Melanoma astrocytoma syndrome [MeSH concept]
- Melanoma-astrocytoma syndrome [OMIM Phenotype]
- melanoma and neural system tumor syndrome [DO Concept]
- melanoma astrocytoma syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Melanoma and neural system tumor syndrome (disorder) [SNOMED CT concept]
- Melanoma astrocytoma syndrome [MeSH concept]
- Melanoma-astrocytoma syndrome [OMIM Phenotype]
- melanoma and neural system tumor syndrome [DO Concept]
- melanoma astrocytoma syndrome [MeSH Supplementary Concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- Germline CDKN2A Gene Mutation [NCIt concept]
disease_mapped_to_gene
- CDKN2A Gene [NCIt concept]
disease_may_have_associated_disease
- Astrocytoma [NCIt concept]
- Melanoma [NCIt concept]
disease_may_have_cytogenetic_abnormality
- del(9p21) [NCIt concept]
pathogenesis_of_disease_involves_gene
- CDKN2A Gene [NCIt concept]
- CDKN2A wt Allele [NCIt concept]
related_to_genetic_biomarker
- CDKN2A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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