| Metadata | |
|---|---|
| ID | DOID:0070484 |
| Name | Legius syndrome |
| Definition | A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14. https://pubmed.ncbi.nlm.nih.gov/34012067/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:703541007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
LGSS [EXACT] neurofibromatosis type 1-like syndrome [EXACT] NF1-like syndrome [EXACT] |
| Parent Relationships |
is_a RASopathy |