DO_rare_slim has material basis in autosomal recessive disease isolated hyperchlorhidrosis ORDO:542657 DOID:0111371 MIM:143860 SNOMEDCT_US_2025_09_01:709413001 disease_ontology 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. HYCHL UMLS_CUI:C1840437 carbonic anhydrase XII deficiency skin disease autosomal recessive inheritance