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ONTOLOGY REPORT - ANNOTATIONS


Term:CINCA syndrome
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Accession:DOID:0090029 term browser browse the term
Definition:An autoimmune hypersensitivity 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
 alt_id: RDO:9004028
 xref: ORDO:1451
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CINCA syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Cryopyrin-Associated Periodic Syndromes 8
        CINCA syndrome 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          skin disease 2461
            Genetic Skin Diseases 752
              Hereditary Autoinflammatory Diseases 93
                Cryopyrin-Associated Periodic Syndromes 8
                  CINCA syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.