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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 111
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Accession:DOID:9008764 term browser browse the term
Definition:An autosomal recessive immunologic disorder characterized by childhood onset of failure to thrive, skin manifestations, pancytopenia, and susceptibility to recurrent infections. Caused by homozygous or compound heterozygous mutation in the DPP9 gene on chromosome 19p13.
Synonyms:exact_synonym: HATIS;   Hatipoglu immunodeficiency syndrome;   IMD111
 primary_id: OMIM:620331



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Immunodeficiency 111 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpp9 dipeptidyl peptidase 9 ISO ClinVar Annotator: match by term: Hatipoglu immunodeficiency syndrome OMIM
ClinVar
PMID:36112693 NCBI chr 9:1,011,347...1,046,337
Ensembl chr 9:1,011,351...1,046,541
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    syndrome 10792
      primary immunodeficiency disease 4141
        Immunodeficiency 111 1
Path 2
Term Annotations click to browse term
  disease 21121
    disease of anatomical entity 18204
      Hemic and Lymphatic Diseases 3847
        hematopoietic system disease 3338
          anemia 775
            pancytopenia 25
              Immunodeficiency 111 1
paths to the root