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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 124
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Accession:DOID:0061090 term browser browse the term
Definition:A severe combined immunodeficiency that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the NHEJ1 gene on chromosome 2q35. (DO)
Synonyms:exact_synonym: IMD124;   Immunodeficiency 124;   NHEJ1 Syndrome;   SCID, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation;   Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation;   severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency
 narrow_synonym: SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, AND SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY
 alt_id: DOID:9007485
 xref: MESH:C566970;   MIM:611291;   MONDO:0012650


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severe combined immunodeficiency 124 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhej1 nonhomologous end-joining factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IMMUNODEFICIENCY 124, SEVERE COMBINED | ClinVar Annotator: match by term: SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to NHEJ1 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency 		OMIM
CTD
ClinVar		 PMID:9536098 PMID:12604777 PMID:16199547 PMID:16439204 PMID:16439205 More... NCBI chr 9:83,974,995...84,071,161
Ensembl chr 9:83,974,997...84,070,594 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      congenital nervous system abnormality 1537
        microcephaly 1137
          severe combined immunodeficiency 124 1
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        Congenital Abnormalities 7954
          Nervous System Malformations 2471
            complex cortical dysplasia with other brain malformations 1650
              Malformations of Cortical Development, Group I 1397
                microcephaly 1137
                  severe combined immunodeficiency 124 1
paths to the root