Disease

isolated hyperchlorhidrosis

Definition
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 the CA12 gene on chromosome 15q22.2.
Synonyms
  • carbonic anhydrase XII deficiency
  • HYCHL
Cross References
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