Human genes for isolated hyperchlorhidrosis
Isolated hyperchlorhidrosis [DOID:0111371]
A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in CA12 on chromosome 15q22.2.
Synonyms: isolated hyperchlorhidrosis, DOID:0111371, isolated hyperchlorhidrosises, carbonic anhydrase XII deficiency, HYCHL ...