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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:Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain
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Accession:DOID:9000056 term browser browse the term
Synonyms:exact_synonym: IMD108;   immunodeficiency-108 with autoinflammation
 primary_id: MESH:C564899
 alt_id: OMIM:260570
For additional species annotation, visit the Alliance of Genome Resources.


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Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain 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: Pelger-Huet-like anomaly and episodic fever with abdominal pain ClinVar
OMIM		 PMID:4831644 PMID:31201888 NCBI chr15:28,169,885...28,171,283
Ensembl chr15:28,169,704...28,171,814 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    syndrome 10788
      primary immunodeficiency disease 4504
        Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain 1
Path 2
Term Annotations click to browse term
  disease 20988
    disease of anatomical entity 18178
      nervous system disease 14109
        Neurologic Manifestations 10112
          Pain 323
            Abdominal Pain 4
              Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain 1
paths to the root