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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
 xref: ORDO:542657
For additional species annotation, visit the Alliance of Genome Resources.

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isolated hyperchlorhidrosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ca12 carbonic anhydrase 12 ISO ClinVar Annotator: match by OMIM:143860
ClinVar Annotator: match by term: Hyperchlorhidrosis, isolated
PMID:21035102 PMID:21184099 PMID:25741868 PMID:26911677 PMID:28492532 NCBI chr 8:67,274,739...67,330,428
Ensembl chr 8:67,274,359...67,330,440
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Nutritional and Metabolic Diseases 5595
      disease of metabolism 5595
        inherited metabolic disorder 2663
          isolated hyperchlorhidrosis 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        sensory system disease 5700
          skin disease 3004
            sweat gland disease 44
              Hyperhidrosis 7
                isolated hyperchlorhidrosis 1
paths to the root