ONTOLOGY REPORT - ANNOTATIONS


Term:cold-induced sweating syndrome 1
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Accession:DOID:0080329 term browser browse the term
Definition:A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. (DO)
Synonyms:exact_synonym: CISS1;   CRISPONI/COLD-INDUCED SWEATING SYNDROME 1;   tetanoform muscle contractions with characteristic face, camptodactyly, hyperthermia, and sudden death
 primary_id: OMIM:272430
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cold-induced sweating syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crlf1 cytokine receptor-like factor 1 JBrowse link 16 20,675,042 20,686,365 RGD:7240710
RGD:8554872
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 RGD:8554872

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Path 1
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  disease 14919
    syndrome 4713
      cold-induced sweating syndrome 3
        cold-induced sweating syndrome 1 2
Path 2
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  disease 14919
    Developmental Diseases 7761
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7082
        Congenital Abnormalities 3196
          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 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.