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immunodeficiency 46 - Ontology Report - Rat Genome Database

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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 46
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Accession:DOID:0111948 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29. (DO)
Synonyms:exact_synonym: CID due to TFRC deficiency;   IMD46;   TFRC-RELATED CONDITION;   TFRC-related combined immunodeficiency;   combined immunodeficiency due to TFRC deficiency
 primary_id: MIM:616740
 xref: ORDO:476113

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immunodeficiency 46 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfrc transferrin receptor ISO ClinVar Annotator: match by term: Immunodeficiency 46 | ClinVar Annotator: match by term: TFRC-related combined immunodeficiency | ClinVar Annotator: match by term: TFRC-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26642240 PMID:28492532 More... NCBI chrNW_004624730:61,282,650...61,313,487
Ensembl chrNW_004624730:61,285,334...61,313,550 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14234
    syndrome 9756
      primary immunodeficiency disease 3757
        combined immunodeficiency 848
          combined T cell and B cell immunodeficiency 296
            immunodeficiency 46 1
Path 2
Term Annotations click to browse term
  disease 14234
    Developmental Disease 12524
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11800
        genetic disease 11525
          monogenic disease 9924
            autosomal genetic disease 9533
              autosomal recessive disease 6618
                immunodeficiency 46 1
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