Disease: Hyperostosis-hyperphosphatemia syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853256
Disease: Hyperostosis-hyperphosphatemia syndrome
Hyperostosis-hyperphosphatemia syndrome 		0.050 GeneticVariation disease BEFREE Hyperostosis-hyperphosphatemia syndrome (HHS) is a rare autosomal recessive metabolic disorder caused by mutations in the GALNT3 and FGF23 genes. 25153226 2015
CUI: C1853256
Disease: Hyperostosis-hyperphosphatemia syndrome
Hyperostosis-hyperphosphatemia syndrome 		0.050 GeneticVariation disease BEFREE A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. 18982401 2009
CUI: C1853256
Disease: Hyperostosis-hyperphosphatemia syndrome
Hyperostosis-hyperphosphatemia syndrome 		0.050 GeneticVariation disease BEFREE Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome. 19297793 2009
CUI: C1853256
Disease: Hyperostosis-hyperphosphatemia syndrome
Hyperostosis-hyperphosphatemia syndrome 		0.050 GeneticVariation disease BEFREE Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations. 17311862 2007
CUI: C1853256
Disease: Hyperostosis-hyperphosphatemia syndrome
Hyperostosis-hyperphosphatemia syndrome 		0.050 GeneticVariation disease BEFREE Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. 15599692 2005