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

Uniprot Description An autosomal recessive disorder characterized by generalized, isolated anhidrosis, severe heat intolerance, and morphologically normal eccrine sweat glands. Body growth, teeth, hair, nails, and skin are normal.

Disease Ontology Description An anhidrosis that has_material_basis in homozygous mutation in the ITPR2 gene on chromosome 12p11.