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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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
OMIM
ClinVar
PMID:21035102, PMID:21184099, PMID:25741868, PMID:26911677, PMID:28492532 NCBI chr 8:72,405,770...72,461,425
Ensembl chr 8:72,405,748...72,460,240
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          isolated hyperchlorhidrosis 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          skin disease 2749
            sweat gland disease 38
              Hyperhidrosis 9
                isolated hyperchlorhidrosis 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.