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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 49
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Accession:DOID:0111979 term browser browse the term
Definition:A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in BCL11B on chromosome 14q32.2. (DO)
Synonyms:exact_synonym: IMD49;   SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, WITH INTELLECTUAL DISABILITY, SPASTICITY, AND CRANIOFACIAL ABNORMALITIES;   severe combined immunodeficiency, T-cell-negative, B-cell-positive, NK-cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities
 broad_synonym: BCL11B-RELATED BAFOPATHY
 primary_id: OMIM:617237
For additional species annotation, visit the Alliance of Genome Resources.



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immunodeficiency 49 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl11b BAF chromatin remodeling complex subunit BCL11B ISO ClinVar Annotator: match by term: Immunodeficiency 49 ClinVar
OMIM
PMID:25627829 PMID:25741868 PMID:27959755 PMID:29985992 NCBI chr 6:126,834,531...126,927,720
Ensembl chr 6:126,834,531...126,928,224
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      primary immunodeficiency disease 2723
        T cell deficiency 43
          immunodeficiency 49 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                immunodeficiency 49 1
paths to the root