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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 3
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Accession:DOID:0080331 term browser browse the term
Definition:A cold-induced sweating syndrome that has_material_basis_in homozygous mutation in the KLHL7 gene on chromosome 7p15. (DO)
Synonyms:exact_synonym: CISS3;   Crisponi/cold-induced sweating syndrome 3;   PERCHING;   PERCHING syndrome
 broad_synonym: KLHL7-RELATED CONDITION
 primary_id: OMIM:617055


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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 IAGP ClinVar Annotator: match by term: Cold-induced sweating syndrome 3
ClinVar Annotator: match by term: PERCHING syndrome
ClinVar Annotator: match by term: KLHL7-related condition		 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:27392078 More... NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18073
      cold-induced sweating syndrome 6
        cold-induced sweating syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        Neurologic Manifestations 15387
          sensory system disease 9728
            skin disease 4874
              sweat gland disease 177
                Hyperhidrosis 11
                  cold-induced sweating syndrome 6
                    cold-induced sweating syndrome 3 1
paths to the root