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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:hyperimmunoglobulinemia D periodic fever syndrome
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Accession:DOID:0081450 term browser browse the term
Definition:A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24. (DO)
Synonyms:exact_synonym: hyper IgD syndrome;   hyper IgD syndromes;   hyperimmunoglobulinemia D;   hyperimmunoglobulinemia D and periodic fever syndrome;   periodic fever, Dutch type
 xref: GARD:2788;   MIM:260920;   MONDO:0009849;   ORDO:343


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hyperimmunoglobulinemia D periodic fever syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Periodic fever Dutch type ClinVar PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Periodic fever Dutch type OMIM
ClinVar		 PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 PMID:10369262 More... NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    syndrome 11271
      primary immunodeficiency disease 4421
        B cell deficiency 440
          hyperimmunoglobulin syndrome 63
            hyperimmunoglobulinemia D periodic fever syndrome 2
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      Immune & Inflammatory Diseases 5757
        immune system disease 5038
          primary immunodeficiency disease 4421
            B cell deficiency 440
              selective immunoglobulin deficiency disease 71
                dysgammaglobulinemia 71
                  hyperimmunoglobulin syndrome 63
                    hyperimmunoglobulinemia D periodic fever syndrome 2
paths to the root