Disease: Hyperostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020492
Disease: Hyperostosis
Hyperostosis 		0.130 GeneticVariation disease BEFREE Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature. 25249269 2014
CUI: C0020492
Disease: Hyperostosis
Hyperostosis 		0.130 GeneticVariation disease BEFREE This is the first report of siblings exhibiting stigmata of familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome with documented evidence of autosomal recessive missense GALNT3 mutations. 19830424 2010
CUI: C0020492
Disease: Hyperostosis
Hyperostosis 		0.130 GeneticVariation disease BEFREE A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome. 18322299 2008
CUI: C0020492
Disease: Hyperostosis
Hyperostosis 		0.130 Biomarker disease HPO