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Disease Ontology Browser
Legius syndrome (DOID:0070484)
Alliance: disease page
Synonyms: LGSS; neurofibromatosis type 1-like syndrome; NF1-like syndrome
Alt IDs: OMIM:611431, MESH:C548032, NCI:C176941, ORDO:137605, UMLS_CUI:C1969623
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory