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DOID:0070484 - Legius syndrome
Disease Ontology 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.
Synonyms: LGSS, neurofibromatosis type 1-like syndrome, NF1-like syndrome
Xenbase Genes
:
spred1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
RASopathy (is_a)