Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013393
Disease: Dysostoses
Dysostoses
0.010 GeneticVariation disease BEFREE This provides further evidence of the clinical overlap among mandibulofacial and acrofacial dysostoses syndromes and expands the phenotype of EFTUD2 haploinsufficiency due to larger deletions. 24805776 2015