DO_rare_slim NCIthesaurus has material basis in autosomal dominant disease Legius syndrome UMLS_CUI:C1969623 MIM:611431 NCI:C176941 NCI:C176941 MIM:611431 ORDO:137605 SNOMEDCT_US_2025_09_01:703541007 UMLS_CUI:C1969623 DOID:0070484 GARD:10714 MESH:C548032 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. MESH:C548032 LGSS NF1-like syndrome disease_ontology ORDO:137605 SNOMEDCT_US_2023_03_01:703541007 GARD:10714 neurofibromatosis type 1-like syndrome RASopathy autosomal dominant inheritance