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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:0000418 | Narrow nasal ridge |
| HP:0005600 | Congenital giant melanocytic nevus |
| HP:0000311 | Round face |
| HP:0001442 | Typified by somatic mosaicism |
| HP:0000232 | Everted lower lip vermilion |
| HP:0003196 | Short nose |
| HP:0000337 | Broad forehead |
| HP:0011220 | Prominent forehead |
| HP:0000463 | Anteverted nares |
| HP:0000194 | Open mouth |
