Aicardi-Goutieres syndrome 5

Definition

Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene.

Also known as Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome caused by mutation in SAMHD1, Aicardi-Goutieres syndrome type 5, SAMHD1 Aicardi-Goutieres syndrome — per MONDO

Also identified as

• MESH C535608 per MONDO
• NCIT C168564 per MONDO
• OMIM 612952 per MONDO
• UMLS C2749659 per MONDO