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 )

Relationships
is a type of: autosomal recessive disease skin disease