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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 24
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Accession:DOID:0111938 term browser browse the term
Definition:A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in CTPS1 on chromosome 1p34.2. (DO)
Synonyms:exact_synonym: IMD24;   SCID due to CTPS1 deficiency;   severe combined immunodeficiency due to CTPS1 deficiency
 primary_id: OMIM:615897
 xref: ORDO:420573
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 24 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctps1 CTP synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 24 OMIM
ClinVar
PMID:24870241, PMID:27638562, PMID:28492532 NCBI chr 5:139,475,934...139,505,065
Ensembl chr 5:139,475,934...139,505,065
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Infant, Newborn, Diseases 547
          severe combined immunodeficiency 91
            immunodeficiency 24 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                immunodeficiency 24 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.