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 14920
    syndrome 4714
      cold-induced sweating syndrome 3
        cold-induced sweating syndrome 3 1
Path 2
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  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        Congenital Abnormalities 3197
          Musculoskeletal Abnormalities 1196
            Congenital Limb Deformities 344
              Upper Extremity Deformities, Congenital 77
                Congenital Hand Deformities 63
                  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.