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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 due to artemis deficiency;   Severe combined immunodeficiency, Athabaskan type;   artemis deficiency;   severe combined immunodeficiency due to DCLRE1C 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;   RDO:0002475;   RDO:0003458;   RDO:9002902
 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 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Infant, Newborn, Diseases 546
          severe combined immunodeficiency 91
            severe combined immunodeficiency with sensitivity to ionizing radiation 4
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                severe combined immunodeficiency with sensitivity to ionizing radiation 4
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.