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DOID:0111715 - Schaaf-Yang syndrome
Disease Ontology Definition:A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2.
Synonyms: MAGEL2-related PWLS, MAGEL2-related Prader-Willi-like syndrome, PWLS, SHFYNG,
Xenbase Genes :
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndrome (is_a)