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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
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Accession:DOID:0060294 term browser browse the term
Definition:A syndrome that is characterized by profuse sweating induced by cold ambient temperature. (DO)
Synonyms:exact_synonym: CISS;   CNTF receptor-related disorders;   Crisponi syndrome;   Sohar-Crisponi syndrome;   cold-induced sweating;   tetanoform muscle contractions with characteristic face, camptodactyly, hyperthermia, and sudden death
 primary_id: MESH:C536214
 xref: OMIM:PS272430;   ORDO:157820

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show annotations for term's descendants           Sort by:
cold-induced sweating syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcf1 cardiotrophin like cytokine factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936599:2,372,889...2,376,316
Ensembl chrNW_004936599:2,372,031...2,376,939 		JBrowse link
G Crlf1 cytokine receptor like factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome ClinVar PMID:20186812 PMID:25741868 NCBI chrNW_004936596:2,693,881...2,702,443
Ensembl chrNW_004936596:2,693,881...2,702,131 		JBrowse link
G Klhl7 kelch like family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936478:279,580...337,655
Ensembl chrNW_004936478:279,067...337,752 		JBrowse link
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 chrNW_004936596:2,693,881...2,702,443
Ensembl chrNW_004936596:2,693,881...2,702,131 		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 chrNW_004936478:279,580...337,655
Ensembl chrNW_004936478:279,067...337,752 		JBrowse link
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_004936599:2,372,889...2,376,316
Ensembl chrNW_004936599:2,372,031...2,376,939 		JBrowse link
cold-induced sweating syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl7 kelch like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 3 | ClinVar Annotator: match by term: KLHL7-related condition | ClinVar Annotator: match by term: PERCHING syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:27392078 More... NCBI chrNW_004936478:279,580...337,655
Ensembl chrNW_004936478:279,067...337,752 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9489
      cold-induced sweating syndrome 3
        cold-induced sweating syndrome 1 2
        cold-induced sweating syndrome 2 1
        cold-induced sweating syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        Neurologic Manifestations 9046
          sensory system disease 6279
            skin disease 3576
              sweat gland disease 143
                Hyperhidrosis 6
                  cold-induced sweating syndrome 3
                    cold-induced sweating syndrome 1 2
                    cold-induced sweating syndrome 2 1
                    cold-induced sweating syndrome 3 1
paths to the root