large congenital melanocytic nevus

Summary
Synonym
  • Congenital pigmented nevus
  • GMN
  • Giant congenital melanocytic nevus
  • Giant pigmented hairy nevus
  • 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.
Super Class
physical disorder skin disease
External Links
Disease Ontology
DOID:0111359
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5730 PTGDS prostaglandin D2 synthase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P41222 Prostaglandin-H2 D-isomerase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024