large congenital melanocytic nevus
Information
- Disease name
- large congenital melanocytic nevus
- Disease ID
- DOID:0111359
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18671780, url:https\://www.ncbi.nlm.nih.gov/pubmed/23392294]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:37
- Cross Reference ID (Disease Ontology)
- GARD:2469
- Cross Reference ID (Disease Ontology)
- MEDDRA:10072036
- Cross Reference ID (Disease Ontology)
- MESH:C536819
- Cross Reference ID (Disease Ontology)
- MIM:137550
- Cross Reference ID (Disease Ontology)
- NCI:C3944
- Cross Reference ID (Disease Ontology)
- NCI:C4234
- Cross Reference ID (Disease Ontology)
- ORDO:626
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:254815002
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:84953004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1318558
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1842036
- Exact Synonym (Disease Ontology)
- Congenital pigmented nevus
- Exact Synonym (Disease Ontology)
- Giant congenital melanocytic nevus
- Exact Synonym (Disease Ontology)
- Giant pigmented hairy nevus
- Exact Synonym (Disease Ontology)
- GMN
- Exact Synonym (Disease Ontology)
- LCMN
- OrphaNumber from OrphaNet (Orphanet)
- 626