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Summary Literature (0)
DOID:0111371 - isolated hyperchlorhidrosis

Disease Ontology 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.

Synonyms: carbonic anhydrase XII deficiency, HYCHL

Xenbase Genes : ca12


MIM:
MIM:143860 - HYPERCHLORHIDROSIS, ISOLATED; HYCHL

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), skin disease (is_a)