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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:CINCA syndrome
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Accession:DOID:0090029 term browser browse the term
Definition:An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. (DO)
Synonyms:exact_synonym: CAPS3;   CINCA;   IOMID;   IOMID syndrome;   NOMID;   NOMID syndrome;   Prieur-Griscelli syndrome;   chronic infantile neurologic cutaneous and articular syndrome;   chronic infantile neurological cutaneous and articular syndrome;   chronic infantile neurological cutaneous articular syndrome;   chronic neurologic cutaneous and articular syndrome;   cryopyrin-associated periodic syndrome 3;   infantile-onset multisystem inflammatory disease;   neonatal-onset multisystem inflammatory disease
 primary_id: OMIM:607115
 xref: NCI:C116380;   ORDO:1451
For additional species annotation, visit the Alliance of Genome Resources.


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CINCA syndrome 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: CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME
ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome
ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3
ClinVar Annotator: match by term: Prieur Griscelli syndrome
ClinVar
OMIM
PMID:49161 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Cryopyrin-Associated Periodic Syndromes 12
        CINCA syndrome 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          skin disease 2954
            Genetic Skin Diseases 1046
              Hereditary Autoinflammatory Diseases 117
                Cryopyrin-Associated Periodic Syndromes 12
                  CINCA syndrome 1
paths to the root