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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:0001053 | Hypopigmented skin patches |
| HP:0000238 | Hydrocephalus |
| HP:0001000 | Abnormality of skin pigmentation |
| HP:0001250 | Seizure |
| HP:0002859 | Rhabdomyosarcoma |
| HP:0002230 | Generalized hirsutism |
| HP:0001482 | Subcutaneous nodule |
| HP:0008069 | Neoplasm of the skin |
| HP:0002664 | Neoplasm |
| HP:0100242 | Sarcoma |
