Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 4
go back to main search page
Accession:DOID:0090065 term browser browse the term
Definition:A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22. (DO)
Synonyms:exact_synonym: FCAS4
 primary_id: OMIM:616115
 xref: ICD10CM:L50.2;   ORDO:47045


show annotations for term's descendants           Sort by:
familial cold autoinflammatory syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpy30 dpy-30, histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr17:74,606,469...74,630,939
Ensembl chr17:74,606,469...74,630,939 		JBrowse link
G Memo1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr17:74,493,759...74,602,677
Ensembl chr17:74,506,031...74,602,516 		JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr17:74,733,254...74,766,140
Ensembl chr17:74,732,433...74,766,137 		JBrowse link
G Slc30a6 solute carrier family 30 (zinc transporter), member 6 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr17:74,702,573...74,731,225
Ensembl chr17:74,702,603...74,731,216 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr17:74,643,805...74,698,110
Ensembl chr17:74,645,982...74,698,110 		JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr17:74,321,886...74,354,855
Ensembl chr17:74,323,950...74,354,911 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr17:74,190,890...74,257,191
Ensembl chr17:74,190,890...74,257,191 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      primary immunodeficiency disease 3856
        familial cold autoinflammatory syndrome 13
          familial cold autoinflammatory syndrome 4 7
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        Neurologic Manifestations 9790
          sensory system disease 6747
            skin disease 3826
              Genetic Skin Diseases 1847
                Hereditary Autoinflammatory Diseases 344
                  Cryopyrin-Associated Periodic Syndromes 25
                    familial cold autoinflammatory syndrome 13
                      familial cold autoinflammatory syndrome 4 7
paths to the root