OBO ID: DOID:0111371
Term Name: isolated hyperchlorhidrosis Search Ontology:
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 CA12 on chromosome 15q22.2. (2)
References:
  • OMIM:143860
  • ORDO:542657
  • SNOMEDCT_US_2020_09_01:709413001
  • UMLS_CUI:C1840437
Ontology: Human Disease   (DOID:0111371)
OTHER isolated hyperchlorhidrosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CA12 Hyperchlorhidrosis, isolated 143860
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None