Disease: Pallister-Killian syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265449
Disease: Pallister-Killian syndrome
Pallister-Killian syndrome 		0.010 GeneticVariation disease BEFREE Pallister-Killian syndrome (PKS-#OMIM601803) is a multisystem developmental disorder typically due to the presence of an aneuploidy cell line, consisting of a supernumerary tetrasomic chromosomal marker (SCM) arisen from the short arm of chromosome 12 (12p isochromosome). 28489314 2017