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ONTOLOGY REPORT - ANNOTATIONS


Term:cold-induced sweating syndrome 3
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Accession:DOID:0080331 term browser browse the term
Definition:An autosomal recessive disorder characterized by infantile-onset hyperthermia and abnormal paroxysmal contractions of the facial and oropharyngeal muscles, resulting in feeding and respiratory difficulties. (OMIM)
Synonyms:exact_synonym: CISS3;   Crisponi/cold-induced sweating syndrome 3
 primary_id: OMIM:617055
 alt_id: RDO:9001398
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cold-induced sweating syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 RGD:8554872
RGD:7240710

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  disease 15590
    syndrome 5131
      cold-induced sweating syndrome 3
        cold-induced sweating syndrome 3 1
Path 2
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  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        Congenital Abnormalities 3574
          Musculoskeletal Abnormalities 1294
            Congenital Limb Deformities 409
              Upper Extremity Deformities, Congenital 80
                Congenital Hand Deformities 65
                  cold-induced sweating syndrome 3
                    cold-induced sweating syndrome 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.