|
DOID:0060853 - Potocki-Luspski syndrome
Disease Ontology Definition:A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2.
Synonyms: 17p11.2 microduplication syndrome, chromosome 17p11.2 duplication syndrome, trisomy 17p11.2,
Echinobase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
chromosomal duplication syndrome (is_a)