Aicardi-Goutieres syndrome 1

Definition

Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene.

Also known as Aicardi-Goutieres syndrome 1, Aicardi-Goutieres syndrome 1, dominant and recessive, Aicardi-Goutieres syndrome caused by mutation in TREX1, Aicardi-Goutieres syndrome type 1, TREX1 Aicardi-Goutieres syndrome — per MONDO

Also identified as

• NCIT C165501 per MONDO
• OMIM 225750 per MONDO
• UMLS C0796126 per MONDO