Isolated anhidrosis with normal sweat glands

Definition

Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene.

Also known as anhidrosis caused by mutation in ITPR2, Dann-Epstein-Sohar syndrome, ITPR2 anhidrosis — per MONDO

Also identified as

• DOID 0060603 per MONDO
• OMIM 106190 per MONDO
• Orphanet 468666 per MONDO
• UMLS C5568836 per MONDO