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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;   artemis deficiency;   severe combined immunodeficiency due to DCLRE1C deficiency;   severe combined immunodeficiency due to artemis deficiency;   severe combined immunodeficiency, Athabascan type;   severe combined immunodeficiency, Athabaskan 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


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:602450
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, partial		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:11336668 PMID:12055248 PMID:12569164 PMID:12592555 More... NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186 		JBrowse link
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency ClinVar PMID:12471202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040 		JBrowse link
G Meig1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency ClinVar PMID:14744996 PMID:15071507 PMID:19912631 PMID:21664875 PMID:25741868 More... NCBI chr17:74,810,791...74,828,433
Ensembl chr17:74,814,632...74,828,433 		JBrowse link
G Suv39h2 SUV39H2 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr17:74,756,290...74,775,332
Ensembl chr17:74,756,306...74,775,332 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Infant, Newborn, Diseases 1239
          severe combined immunodeficiency 486
            severe combined immunodeficiency with sensitivity to ionizing radiation 4
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                severe combined immunodeficiency with sensitivity to ionizing radiation 4
paths to the root