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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 1
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Accession:DOID:0090062 term browser browse the term
Definition:A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44. (DO)
Synonyms:exact_synonym: CAPS1;   CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1;   FCAS1
 primary_id: OMIM:120100
 xref: ORDO:47045

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familial cold autoinflammatory syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 1 OMIM
ClinVar		 PMID:49161 PMID:447320 PMID:5173311 PMID:11687797 PMID:11992256 More... NCBI chrNW_004955581:597,952...616,903
Ensembl chrNW_004955581:597,667...617,410 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      Cryopyrin-Associated Periodic Syndromes 19
        familial cold autoinflammatory syndrome 12
          familial cold autoinflammatory syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        Neurologic Manifestations 8844
          sensory system disease 6162
            skin disease 3500
              Genetic Skin Diseases 1695
                Hereditary Autoinflammatory Diseases 313
                  Cryopyrin-Associated Periodic Syndromes 19
                    familial cold autoinflammatory syndrome 12
                      familial cold autoinflammatory syndrome 1 1
paths to the root