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Term:isolated hyperchlorhidrosis
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Accession:DOID:0111371 term browser browse the term
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 CA12 on chromosome 15q22.2. (DO)
Synonyms:exact_synonym: HYCHL;   carbonic anhydrase XII deficiency
 primary_id: OMIM:143860
 alt_id: DOID:9002158;   RDO:0009863
 xref: ORDO:542657
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isolated hyperchlorhidrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ca12 carbonic anhydrase 12 JBrowse link 8 72,405,770 72,461,425 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        inherited metabolic disorder 1884
          isolated hyperchlorhidrosis 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        sensory system disease 4596
          skin disease 2462
            sweat gland disease 35
              Hyperhidrosis 7
                isolated hyperchlorhidrosis 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.