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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:autosomal dominant familial periodic fever
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Accession:DOID:0090018 term browser browse the term
Definition:A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. (DO)
Synonyms:exact_synonym: FHF;   FPF;   TNF receptor 1-associated periodic syndrome;   TNF receptor-associated periodic fever syndrome (TRAPS);   TNF receptor-associated periodic syndrome;   TNF receptor-associated periodic syndrome (TRAPS);   TRAPS;   familial hibernian fever;   tumor necrosis factor receptor 1 associated periodic syndrome;   tumor necrosis factor receptor-associated periodic syndrome
 primary_id: MESH:C536657
 alt_id: OMIM:142680
 xref: GARD:8457;   ICD10CM:E85.0;   ORDO:32960
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant familial periodic fever term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by OMIM:142680
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS)
OMIM
ClinVar
PMID:1402641 PMID:6635178 PMID:7156325 PMID:9529351 PMID:9536098 PMID:9585614 PMID:10199409 PMID:10902757 PMID:11175303 PMID:11443543 PMID:11722598 PMID:11817598 PMID:12209523 PMID:12352631 PMID:12520003 PMID:12905494 PMID:13130484 PMID:14610673 PMID:15216558 PMID:15280569 PMID:15492850 PMID:16508982 PMID:16635178 PMID:16684962 PMID:17576681 PMID:18180277 PMID:18408954 PMID:18512793 PMID:19917181 PMID:20576331 PMID:21029567 PMID:21420073 PMID:22311714 PMID:22801493 PMID:22918594 PMID:23322460 PMID:23745996 PMID:23965844 PMID:24033266 PMID:24064022 PMID:24393624 PMID:25326637 PMID:25387410 PMID:25640679 PMID:25741868 PMID:25936627 PMID:26598380 PMID:27332769 PMID:28166811 PMID:28427379 PMID:28492532 PMID:28814775 PMID:29047407 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      primary immunodeficiency disease 2510
        autosomal dominant familial periodic fever 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          skin disease 2741
            Genetic Skin Diseases 910
              Hereditary Autoinflammatory Diseases 113
                autosomal dominant familial periodic fever 2
paths to the root