Search Ontology:
Human Disease

large congenital melanocytic nevus

Term ID
DOID:0111359
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
  • MIM:137550
  • NCI:C3944
  • NCI:C4234
  • 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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models