OBO ID: DOID:0111359
Term Name: large congenital melanocytic nevus Search Ontology:
Synonyms:
  • Congenital pigmented nevus
  • Giant congenital melanocytic nevus
  • Giant pigmented hairy nevus
  • GMN
  • LCMN
Definition: A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5. (2)
References:
  • GARD:2469
  • MEDDRA:10072036
  • MESH:C536819
  • NCI:C3944
  • NCI:C4234
  • OMIM:137550
  • ORDO:626
  • SNOMEDCT_US_2023_03_01:254815002
  • SNOMEDCT_US_2023_03_01:84953004
  • UMLS_CUI:C1318558
  • UMLS_CUI:C1842036
Ontology: Human Disease   ( DOID:0111359 )
OTHER large congenital melanocytic nevus PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HRAS Spitz nevus or nevus spilus, somatic 137550
NRAS Melanocytic nevus syndrome, congenital, somatic 137550
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None