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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 TFRC on chromosome 3q29. (DO)
Synonyms:exact_synonym: CID due to TFRC deficiency;   IMD46;   TFRC-related combined immunodeficiency;   combined immunodeficiency due to TFRC deficiency
 primary_id: OMIM:616740
 xref: ORDO:476113
For additional species annotation, visit the Alliance of Genome Resources.


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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: Immunodeficiency 46
ClinVar
OMIM
PMID:25741868, PMID:26642240 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      primary immunodeficiency disease 2344
        combined immunodeficiency 147
          combined T cell and B cell immunodeficiency 55
            immunodeficiency 46 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                immunodeficiency 46 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.