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DO Term : isolated hyperchlorhidrosis [DOID:0111371] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • UMLS_CUI:C1840437,
  • SNOMEDCT_US_2023_03_01:709413001,
  • carbonic anhydrase XII deficiency,
  • OMIM:143860,
  • 143860,
  • ORDO:542657,
  • HYCHL
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents