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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 IAGP
EXP
ISS		 ClinVar Annotator: match by term: Isolated anhidrosis with normal sweat glands
CTD Direct Evidence: marker/mechanism
OMIM:106190		 ClinVar
OMIM
CTD
MouseDO		 PMID:25329695 PMID:25741868 PMID:28492532 NCBI chr12:26,335,352...26,833,194
Ensembl chr12:26,335,352...26,833,194 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9730
      skin disease 4874
        sweat gland disease 177
          hypohidrosis 45
            anhidrosis 7
              isolated anhidrosis with normal sweat glands 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        Neurologic Manifestations 15387
          sensory system disease 9730
            skin disease 4874
              sweat gland disease 177
                hypohidrosis 45
                  anhidrosis 7
                    isolated anhidrosis with normal sweat glands 1
paths to the root