Autosomal recessive spondylometaphyseal dysplasia, Megarbane type

Definition

Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene.

Also known as PAM16 spondylodysplastic dysplasia, spondylodysplastic dysplasia caused by mutation in PAM16, spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type — per MONDO

Also identified as

• DOID 0112304 per MONDO
• MESH C567644 per MONDO
• OMIM 613320 per MONDO
• Orphanet 401979 per MONDO
• UMLS C2750075 per MONDO