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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:A cold-induced sweating syndrome that has_material_basis_in compound heterozygous mutation in the CLCF1 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: CISS2;   Crisponi/cold-induced sweating syndrome 2
 primary_id: MIM:610313
 xref: NCI:C173148

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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 chrNW_004624767:19,142,927...19,152,572
Ensembl chrNW_004624767:19,142,852...19,153,155 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14170
    syndrome 9558
      cold-induced sweating syndrome 3
        cold-induced sweating syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14170
    disease of anatomical entity 13885
      nervous system disease 12195
        Neurologic Manifestations 9072
          sensory system disease 6424
            skin disease 3700
              sweat gland disease 141
                Hyperhidrosis 6
                  cold-induced sweating syndrome 3
                    cold-induced sweating syndrome 2 1
paths to the root