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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:familial cold autoinflammatory syndrome 3
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Accession:DOID:0090064 term browser browse the term
Definition:A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q. (DO)
Synonyms:exact_synonym: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED;   FACU;   FCAS3;   PLAID;   familial atypical cold urticaria
 primary_id: OMIM:614468
 xref: ORDO:300359
For additional species annotation, visit the Alliance of Genome Resources.


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familial cold autoinflammatory syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcg2 phospholipase C, gamma 2 ISO ClinVar Annotator: match by OMIM:614468
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22236196 PMID:24033266 PMID:25640679 More... NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    sensory system disease 5611
      skin disease 2954
        urticaria 42
          familial cold autoinflammatory syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        sensory system disease 5611
          skin disease 2954
            Genetic Skin Diseases 1046
              Hereditary Autoinflammatory Diseases 117
                Cryopyrin-Associated Periodic Syndromes 12
                  familial cold autoinflammatory syndrome 6
                    familial cold autoinflammatory syndrome 3 1
paths to the root