Acrodysostosis 2 with or without hormone resistance

Definition

Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene.

Also known as acrodysostosis 2 with or without hormone resistance, acrodysostosis 2, with or without hormone resistance, acrodysostosis caused by mutation in PDE4D, PDE4D acrodysostosis — per MONDO

Also identified as

• OMIM 614613 per MONDO
• UMLS C3553250 per MONDO