Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia
0.110 GeneticVariation disease BEFREE Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia. 28331220 2017
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia
0.110 Biomarker disease HPO