Term Name: | isolated hyperchlorhidrosis |
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Synonyms: | carbonic anhydrase XII deficiency, HYCHL |
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. |
Ontology: | Human Disease [DOID:0111371] ( DOID:0111371 ) |