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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



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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
ISS
OMIM:607115
ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3 | ClinVar Annotator: match by term: Chronic Infantile Neurological Cutaneous Articular syndrome | ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome | ClinVar Annotator: match by term: Prieur Griscelli syndrome
OMIM
MouseDO
ClinVar
PMID:49161 PMID:5173311 PMID:9536098 PMID:11687797 PMID:11992256 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 21120
    syndrome 10776
      Cryopyrin-Associated Periodic Syndromes 27
        CINCA syndrome 1
Path 2
Term Annotations click to browse term
  disease 21120
    Pathological Conditions, Signs and Symptoms 13299
      Signs and Symptoms 10784
        Neurologic Manifestations 10017
          sensory system disease 6930
            skin disease 3952
              Genetic Skin Diseases 1847
                Hereditary Autoinflammatory Diseases 344
                  Cryopyrin-Associated Periodic Syndromes 27
                    CINCA syndrome 1
paths to the root