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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 109
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Accession:DOID:0061078 term browser browse the term
Definition:A primary immunodeficiency disease that is characterized by onset of recurrent sinopulmonary infections in childhood and that has_material_basis_in homozygous mutation in the TNFRSF9 gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: IMD109;   immunodeficiency 109 with lymphoproliferation;   immunodeficiency-109 with EBV-induced lymphoproliferation;   immunodeficiency-109 with Epstein-Barr virus (EBV)-induced lymphoproliferation
 broad_synonym: TNFRSF9-related condition
 alt_id: DOID:9009044
 xref: MIM:620282;   MONDO:0859526


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immunodeficiency 109 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf9 TNF receptor superfamily member 9 ISO ClinVar Annotator: match by term: Immunodeficiency 109 with lymphoproliferation | ClinVar Annotator: match by term: TNFRSF9-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30232281 More... NCBI chr 5:166,664,494...166,690,834
Ensembl chr 5:166,664,494...166,690,831 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      primary immunodeficiency disease 4502
        immunodeficiency 109 1
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                immunodeficiency 109 1
paths to the root