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DOID:0060853 - Potocki-Lupski 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 contiguous gene syndrome caused by duplication of chromosome 17p11.2.
Synonyms: 17p11.2 microduplication syndrome, chromosome 17p11.2 duplication syndrome, trisomy 17p11.2
Xenbase Genes
:
flcn
| MONDO:0012574 - Potocki-Lupski syndrome |
| MIM:610883 - POTOCKI-LUPSKI SYNDROME; PTLS |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
chromosomal duplication syndrome (is_a)