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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:T-Lymphocytopenia
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Accession:DOID:9008671 term browser browse the term
Synonyms:primary_id: MESH:C536783
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
T-Lymphocytopenia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17030597 NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
JBrowse link
G Themis thymocyte selection associated IAGP DNA:frameshift mutation: RGD PMID:22275874 RGD:38599149 NCBI chr 1:16,433,906...16,623,889
Ensembl chr 1:16,432,631...16,664,329
JBrowse link
G Themism1Adej thymocyte selection associated; mutant1, Adej IAGP RGD PMID:22275874 RGD:38599149
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity OMIM
ClinVar
PMID:8810255 PMID:9630231 PMID:10891452 PMID:11121059 PMID:11133745 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
JBrowse link
idiopathic CD4-positive T-lymphocytopenia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc119 unc-119 lipid binding chaperone ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IDIOPATHIC CD4 LYMPHOPENIA
CTD
ClinVar
PMID:22184408 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:63,237,862...63,243,339
Ensembl chr10:63,237,903...63,243,339
JBrowse link
T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxn1 forkhead box N1 ISO ClinVar Annotator: match by term: T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant OMIM
ClinVar
PMID:8911612 PMID:10206641 PMID:15180707 PMID:15897400 PMID:18339010 More... NCBI chr10:63,251,400...63,273,710
Ensembl chr10:63,251,400...63,273,710
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    syndrome 9798
      primary immunodeficiency disease 3866
        lymphopenia 62
          T-Lymphocytopenia 8
            Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 1
            T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT 1
            idiopathic CD4-positive T-lymphocytopenia 1
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      Hemic and Lymphatic Diseases 3441
        hematopoietic system disease 2992
          leukocyte disease 920
            leukopenia 389
              lymphopenia 62
                T-Lymphocytopenia 8
                  Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 1
                  T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT 1
                  idiopathic CD4-positive T-lymphocytopenia 1
paths to the root