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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 99 with Hypogammaglobulinemia and Autoimmune Cytopenias
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Accession:DOID:9003255 term browser browse the term
Definition:An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Caused by homozygous mutation in the CTNNBL1 gene on chromosome 20q11.
Synonyms:exact_synonym: IMD99
 primary_id: OMIM:619846


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Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnbl1 catenin, beta like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias OMIM
ClinVar		 PMID:32484799 NCBI chr 3:146,387,940...146,548,987
Ensembl chr 3:146,387,889...146,548,987 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      primary immunodeficiency disease 4112
        Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias 1
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      Immune & Inflammatory Diseases 5521
        immune system disease 4735
          primary immunodeficiency disease 4112
            Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias 1
paths to the root