DISEASES

Disease-gene associations mined from literature

Human genes for isolated anhidrosis with normal sweat glands

Isolated anhidrosis with normal sweat glands [DOID:0060603]

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

Synonyms:  isolated anhidrosis with normal sweat glands,  DOID:0060603,  isolated anhidrosis with normal sweat glandses,  Dann-Epstein-Sohar syndrome,  DannEpsteinSohar syndrome ...