FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Legius syndrome ID (Ontology) DOID:0070484 (Human Disease)
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.
Also Known As "LGSS" ; "neurofibromatosis type 1-like syndrome" ; "NF1-like syndrome"
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 Genes
 Legius syndrome       1
 for disease ribbon | Legius syndrome       1
 model of | Legius syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
syndrome                        |
 |__RASopathy___________________|
                                Legius syndrome  1 rec.
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Is a autosomal dominant disease
RASopathy
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Synonyms
  • "LGSS" EXACT OMO:0003012
    "neurofibromatosis type 1-like syndrome" EXACT
    "NF1-like syndrome" EXACT
Secondary IDs
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GARD:10714
MESH:C548032
MIM:611431
NCI:C176941
ORDO:137605
SNOMEDCT_US_2023_03_01:703541007
UMLS_CUI:C1969623