FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term isolated hyperchlorhidrosis ID (Ontology) DOID:0111371 (Human Disease)
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.
Also Known As "carbonic anhydrase XII deficiency" ; "HYCHL"
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 Genes
 isolated hyperchlorhidrosis       7
 for disease ribbon | isolated hyperchlorhidrosis       7
 model of | isolated hyperchlorhidrosis       7
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
integumentary system disease     |
 |__skin disease_________________|
                                 isolated hyperchlorhidrosis  7 rec.
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Is a autosomal recessive disease
skin disease
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Synonyms
  • "carbonic anhydrase XII deficiency" EXACT
    "HYCHL" EXACT OMO:0003012
Secondary IDs
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MIM:143860
ORDO:542657
SNOMEDCT_US_2023_03_01:709413001
UMLS_CUI:C1840437