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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: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
 xref: NCI:C173147
For additional species annotation, visit the Alliance of Genome Resources.



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cold-induced sweating syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crlf1 cytokine receptor-like factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 OMIM
ClinVar
PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 More... NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:25741868 PMID:27392078 NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    syndrome 8148
      cold-induced sweating syndrome 3
        cold-induced sweating syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        Congenital Abnormalities 5594
          Musculoskeletal Abnormalities 2240
            Congenital Limb Deformities 458
              Congenital Upper Extremity Deformities 92
                Congenital Hand Deformities 77
                  cold-induced sweating syndrome 3
                    cold-induced sweating syndrome 1 2
paths to the root