Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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;   hibernian fever;   tumor necrosis factor receptor 1 associated periodic syndrome;   tumor necrosis factor receptor-associated periodic syndrome
 primary_id: MESH:C536657
 alt_id: MIM:142680
 xref: GARD:8457;   ICD10CM:E85.0;   ORDO:32960



show annotations for term's descendants           Sort by:
autosomal dominant familial periodic fever term browser
Symbol Object Name Qualifiers 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 PMID:25741868 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A susceptibility ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:142680
ClinVar Annotator: match by term: Autosomal Dominant Familial Periodic Fever | ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS)
CTD
MouseDO
ClinVar
OMIM
PMID:1144354 PMID:1402641 PMID:7156325 PMID:9529351 PMID:9536098 More... NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    syndrome 11109
      primary immunodeficiency disease 4301
        autosomal dominant familial periodic fever 2
Path 2
Term Annotations click to browse term
  disease 19076
    Pathological Conditions, Signs and Symptoms 13489
      Signs and Symptoms 11037
        Neurologic Manifestations 10284
          sensory system disease 7183
            skin disease 4190
              Genetic Skin Diseases 1882
                Hereditary Autoinflammatory Diseases 362
                  autosomal dominant familial periodic fever 2
paths to the root