isolated hyperchlorhidrosis

Term ID

DOID:0111371

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. (2)

References

• OMIM:143860
• ORDO:542657
• SNOMEDCT_US_2023_03_01:709413001
• UMLS_CUI:C1840437

Ontology

Human Disease   ( DOID:0111371 )