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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 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
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:1144354 PMID:1402641 PMID:6635178 PMID:7156325 PMID:9529351 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 17289
    syndrome 8166
      primary immunodeficiency disease 2723
        autosomal dominant familial periodic fever 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          skin disease 2993
            Genetic Skin Diseases 1051
              Hereditary Autoinflammatory Diseases 117
                autosomal dominant familial periodic fever 2
paths to the root