Search Ontology:
Human Disease

Legius syndrome

Term ID
DOID:0070484
Synonyms
  • LGSS
  • neurofibromatosis type 1-like syndrome
  • NF1-like 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/
References
  • GARD:10714
  • MESH:C548032
  • MIM:611431
  • NCI:C176941
  • ORDO:137605
  • SNOMEDCT_US_2023_03_01:703541007
  • UMLS_CUI:C1969623
Ontology
Human Disease   ( DOID:0070484 )
Relationships
is a type of
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Genes Involved
Zebrafish Models