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immunodeficiency 108 - Ontology Report - Rat Genome Database

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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:immunodeficiency 108
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Accession:DOID:0061077 term browser browse the term
Definition:A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence and that has_material_basis_in homozygous mutation in the CEBPE gene on chromosome 14q11. (DO)
Synonyms:exact_synonym: IMD108;   Pelger-Huet-like anomaly and episodic fever with abdominal pain;   immunodeficiency-108 with autoinflammation
 broad_synonym: CEBPE-related condition
 alt_id: DOID:9000056
 xref: MESH:C564899;   MIM:260570;   MONDO:0009842

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immunodeficiency 108 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cebpe CCAAT/enhancer binding protein epsilon ISO ClinVar Annotator: match by term: CEBPE-related condition | ClinVar Annotator: match by term: Pelger-Huet-like anomaly and episodic fever with abdominal pain OMIM
ClinVar		 PMID:4831644 PMID:25741868 PMID:26104880 PMID:28492532 PMID:31201888 NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    syndrome 11397
      primary immunodeficiency disease 4476
        immunodeficiency 108 1
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14665
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        genetic disease 13378
          monogenic disease 10946
            autosomal genetic disease 10433
              autosomal recessive disease 7126
                immunodeficiency 108 1
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