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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;   ITPR2-RELATED CONDITION
 xref: MIM:106190;   MONDO:0007118


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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: ITPR2-related condition | ClinVar Annotator: match by term: Isolated anhidrosis with normal sweat glands OMIM
ClinVar
PMID:25329695 PMID:25741868 PMID:28492532 NCBI chrNW_004936548:646,019...1,120,426
Ensembl chrNW_004936548:645,925...1,121,888
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14655
    sensory system disease 6655
      skin disease 3932
        sweat gland disease 144
          hypohidrosis 33
            anhidrosis 6
              isolated anhidrosis with normal sweat glands 1
Path 2
Term Annotations click to browse term
  disease 14655
    disease of anatomical entity 14339
      nervous system disease 12615
        Neurologic Manifestations 9410
          sensory system disease 6655
            skin disease 3932
              sweat gland disease 144
                hypohidrosis 33
                  anhidrosis 6
                    isolated anhidrosis with normal sweat glands 1
paths to the root