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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 WITH AUTOINFLAMMATION
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Accession:DOID:9000056 term browser browse the term
Synonyms:exact_synonym: IMD108;   Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain;   immunodeficiency-108 with autoinflammation
 broad_synonym: CEBPE-RELATED CONDITION
 primary_id: MESH:C564899
 alt_id: MIM:260570



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IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION 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 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11370
      primary immunodeficiency disease 4431
        IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        Neurologic Manifestations 10448
          Pain 349
            Abdominal Pain 4
              IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION 1
paths to the root