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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:Nijmegen Breakage Syndrome-Like Disorder
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Accession:DOID:9008829 term browser browse the term
Synonyms:exact_synonym: NBS-LIKE DISORDER;   NBSLD;   RAD50 deficiency;   microcephaly and spontaneous chromosome instability without immunodeficiency
 primary_id: MESH:C567767
 alt_id: OMIM:613078
 xref: NCI:C153178
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Pathological Conditions, Signs and Symptoms 10289
      Pathologic Processes 6728
        Growth Disorders 783
          Nijmegen Breakage Syndrome-Like Disorder 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                complex cortical dysplasia with other brain malformations 1195
                  Malformations of Cortical Development, Group I 1054
                    microcephaly 897
                      Nijmegen Breakage Syndrome-Like Disorder 1
paths to the root