Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 GeneticVariation disease BEFREE Here, we report on a female Danish patient with a novel homozygous IARS2 mutation, p.Gly874Arg, who presented at birth with bilateral hip dislocation and short stature. 28328135 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO