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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:isolated anhidrosis with normal sweat glands
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Accession:EFO:MONDO:0007118 term browser browse the term
Definition:Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene.
Synonyms:exact_synonym: Dann-Epstein-Sohar syndrome;   ITPR2 anhidrosis;   anhidrosis caused by mutation in ITPR2
 related_synonym: ANHD;   isolated generalised anhidrosis with normal sweat glands;   isolated generalized anhidrosis with normal sweat glands
 alt_id: MONDO:0007118
 xref: DOID:0060603;   GARD:17843;   MEDGEN:1800259;   MIM:106190;   ORDO:468666;   UMLS:C5568836


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            hereditary skin disorder 0
              isolated anhidrosis with normal sweat glands 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          integumentary system disease 0
            skin disease 0
              sweat gland disease 0
                anhidrosis 0
                  isolated anhidrosis with normal sweat glands 0
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