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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 anhidrosis with normal sweat glands
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Accession:DOID:0060603 term browser browse the term
Definition:An anhidrosis that has_material_basis in homozygous mutation in the ITPR2 gene on chromosome 12p11. (DO)
Synonyms:exact_synonym: ANHD;   Dann-Epstein-Sohar syndrome
 primary_id: OMIM:106190
For additional species annotation, visit the Alliance of Genome Resources.


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isolated anhidrosis with normal sweat glands term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpr2 inositol 1,4,5-trisphosphate receptor, type 2 ISO ClinVar Annotator: match by term: Anhidrosis, isolated, with normal sweat glands OMIM
ClinVar
PMID:25329695 NCBI chr 4:180,423,452...180,800,088
Ensembl chr 4:180,538,389...180,722,358
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      skin disease 2741
        sweat gland disease 40
          hypohidrosis 22
            anhidrosis 4
              isolated anhidrosis with normal sweat glands 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          skin disease 2741
            sweat gland disease 40
              hypohidrosis 22
                anhidrosis 4
                  isolated anhidrosis with normal sweat glands 1
paths to the root