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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002002 | Deep philtrum |
| HP:0000316 | Hypertelorism |
| HP:0010759 | Prominence of the premaxilla |
| HP:0000455 | Broad nasal tip |
| HP:0012056 | Cutaneous melanoma |
| HP:0000343 | Long philtrum |
| HP:0003577 | Congenital onset |
| HP:0000293 | Full cheeks |
| HP:0000629 | Periorbital fullness |
| HP:0000989 | Pruritus |
