isolated hyperchlorhidrosis (DOID:0111371)
Alliance: disease page
Synonyms: carbonic anhydrase XII deficiency; HYCHL
Alt IDs: OMIM:143860, ORDO:542657, UMLS_CUI:C1840437
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.