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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 Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
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Accession:DOID:9007485 term browser browse the term
Synonyms:exact_synonym: 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 Sensitivity To Ionizing Radiation Due To Nhej1 Deficiency
 narrow_synonym: NHEJ1 SYNDROME SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY;   SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, AND SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY
 primary_id: MESH:C566970;   RDO:0015167
 alt_id: OMIM:611291
For additional species annotation, visit the Alliance of Genome Resources.


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Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by OMIM:611291
ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency
OMIM
ClinVar
PMID:9536098 PMID:12604777 PMID:16439204 PMID:16439205 PMID:16571728 PMID:17576681 PMID:20597108 PMID:25741868 PMID:26122175 PMID:28492532 NCBI chr 9:82,230,230...82,327,923
Ensembl chr 9:82,230,232...82,327,534
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16977
    physical disorder 2965
      congenital nervous system abnormality 978
        microcephaly 873
          Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 1
Path 2
Term Annotations click to browse term
  disease 16977
    Developmental Disease 10670
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9142
        genetic disease 8664
          monogenic disease 6639
            autosomal genetic disease 5795
              autosomal dominant disease 4091
                complex cortical dysplasia with other brain malformations 1167
                  Malformations of Cortical Development, Group I 1027
                    microcephaly 873
                      Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 1
paths to the root