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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


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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
ISS		 ClinVar Annotator: match by term: Isolated anhidrosis with normal sweat glands
CTD Direct Evidence: marker/mechanism
OMIM:106190		 OMIM
ClinVar
CTD
MouseDO		 PMID:25329695 PMID:25741868 PMID:28492532 NCBI chr 4:179,028,594...179,434,657
Ensembl chr 4:179,027,281...179,404,164 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      skin disease 3968
        sweat gland disease 154
          hypohidrosis 37
            anhidrosis 6
              isolated anhidrosis with normal sweat glands 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              sweat gland disease 154
                hypohidrosis 37
                  anhidrosis 6
                    isolated anhidrosis with normal sweat glands 1
paths to the root