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Disease Ontology Browser
isolated hyperchlorhidrosis (DOID:0111371)
Alliance: disease page
Synonyms: carbonic anhydrase XII deficiency; HYCHL
Alt IDs: OMIM:143860, ORDO:542657, UMLS_CUI:C1840437
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
02/20/2024
MGI 6.23
The Jackson Laboratory