| Term Name: | isolated hyperchlorhidrosis |
|---|---|
| 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 ) |