PDE4D, phosphodiesterase 4D, 5144

N. diseases: 210; N. variants: 68
Disease: Brachydactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.110 GeneticVariation disease BEFREE Type 2 acrodysostosis (ACRDYS2), a rare developmental skeletal dysplasia characterized by short stature, severe brachydactyly and facial dysostosis, is caused by mutations in the phosphodiesterase (PDE) 4D (PDE4D) gene. 29016851 2017
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.110 Biomarker disease HPO