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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 chrNW_004936561:3,434,232...3,589,341
Ensembl chrNW_004936561:3,434,731...3,589,341 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9489
      primary immunodeficiency disease 3538
        Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      Immune & Inflammatory Diseases 4719
        immune system disease 4105
          primary immunodeficiency disease 3538
            Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias 1
paths to the root