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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;   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


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 18976
    syndrome 10887
      primary immunodeficiency disease 4152
        autosomal dominant familial periodic fever 2
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            skin disease 4047
              Genetic Skin Diseases 1852
                Hereditary Autoinflammatory Diseases 345
                  autosomal dominant familial periodic fever 2
paths to the root