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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 2
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Accession:DOID:0080330 term browser browse the term
Definition:An autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. (OMIM)
Synonyms:exact_synonym: CISS2;   Crisponi/cold-induced sweating syndrome 2
 primary_id: OMIM:610313
 xref: NCI:C173148
For additional species annotation, visit the Alliance of Genome Resources.



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cold-induced sweating syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcf1 cardiotrophin-like cytokine factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 OMIM
ClinVar
PMID:16782820 PMID:20400119 PMID:25741868 NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      cold-induced sweating syndrome 3
        cold-induced sweating syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Musculoskeletal Abnormalities 2243
            Congenital Limb Deformities 459
              Congenital Upper Extremity Deformities 92
                Congenital Hand Deformities 77
                  cold-induced sweating syndrome 3
                    cold-induced sweating syndrome 2 1
paths to the root