|
DOID:0112103 - Sotos syndrome 1
Disease Ontology Definition:A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene.
Synonyms: SOTOS1,
Xenbase Genes : nsd1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee