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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:severe combined immunodeficiency with sensitivity to ionizing radiation
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Accession:DOID:0090012 term browser browse the term
Definition:A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13. (DO)
Synonyms:exact_synonym: ATHABASKAN SEVERE COMBINED IMMUNODEFICIENCY;   RS-SCID;   SCID due to DCLRE1C deficiency;   SCID due to artemis deficiency;   SCID, Athabascan type;   SCID, Athabaskan type;   SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation;   SCIDA;   Severe combined immunodeficiency, Athabaskan type;   artemis deficiency;   severe combined immunodeficiency due to DCLRE1C deficiency;   severe combined immunodeficiency due to artemis deficiency;   severe combined immunodeficiency, Athabascan type
 narrow_synonym: SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE;   partial severe combined immunodeficiency
 primary_id: MESH:C536786;   MESH:C537589
 alt_id: DOID:0060006;   OMIM:602450
 xref: ICD10CM:D81.1;   NCI:C162694;   ORDO:275
For additional species annotation, visit the Alliance of Genome Resources.


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severe combined immunodeficiency with sensitivity to ionizing radiation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency, athabascan-type
ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation
ClinVar Annotator: match by term: Severe combined immunodeficiency, partial
ClinVar Annotator: match by OMIM:602450
ClinVar Annotator: match by synonym: Severe combined immunodeficiency, partial
OMIM
ClinVar
PMID:11336668 PMID:12055248 PMID:12569164 PMID:12592555 PMID:18223550 PMID:19912631 PMID:19953608 PMID:20674517 PMID:21147755 PMID:21664875 PMID:22527898 PMID:23701501 PMID:24033266 PMID:25741868 PMID:25762520 PMID:25917813 PMID:25981738 PMID:26122175 PMID:26123418 PMID:26476407 PMID:28492532 PMID:29167666 NCBI chr17:78,782,512...78,812,140
Ensembl chr17:78,783,437...78,812,111
JBrowse link
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency
ClinVar PMID:12471202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:85,331,771...85,339,496
Ensembl chr16:85,331,866...85,337,769
JBrowse link
G Meig1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation ClinVar PMID:19912631 PMID:28492532 NCBI chr17:78,813,656...78,829,411
Ensembl chr17:78,817,529...78,829,411
JBrowse link
G Suv39h2 suppressor of variegation 3-9 homolog 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency ClinVar PMID:28492532 NCBI chr17:78,762,897...78,782,016
Ensembl chr17:78,762,991...78,782,016
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Infant, Newborn, Diseases 547
          severe combined immunodeficiency 94
            severe combined immunodeficiency with sensitivity to ionizing radiation 4
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                severe combined immunodeficiency with sensitivity to ionizing radiation 4
paths to the root