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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: Severe combined immunodeficiency due to CTPS1 deficiency OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24870241 More... NCBI chr 5:134,125,022...134,154,155
Ensembl chr 5:134,125,025...134,154,180
JBrowse link
G Scmh1 Scm polycomb group protein homolog 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency ClinVar PMID:28492532 NCBI chr 5:133,991,167...134,115,893
Ensembl chr 5:133,990,520...134,122,105
JBrowse link
G Slfnl1 schlafen-like 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency ClinVar PMID:28492532 NCBI chr 5:134,117,634...134,122,105
Ensembl chr 5:133,990,520...134,122,105
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        Infant, Newborn, Diseases 1095
          severe combined immunodeficiency 449
            immunodeficiency 24 3
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal recessive disease 4613
                immunodeficiency 24 3
paths to the root