melanoma and neural system tumor syndrome

Term ID

DOID:0111511

Synonyms

• melanoma-astrocytoma syndrome

Definition

A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3. (3)

References

• GARD:8468
• MESH:C536149
• NCI:C176905
• OMIM:155755
• ORDO:252206
• SNOMEDCT_US_2023_03_01:717968005
• UMLS_CUI:C1835042

Ontology

Human Disease   ( DOID:0111511 )