Disease: Spondyloepiphyseal Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		0.110 GeneticVariation disease BEFREE We conclude therefore that SED is a feature of patients with SMARCAL1 mutations and that skeletal features do not distinguish who of those with SED have SMARCAL1 mutations. 20013129 2010
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		0.110 Biomarker disease HPO