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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: Microcephaly and Spontaneous Chromosome Instability without Immunodeficiency;   NBS-LIKE DISORDER;   NBSLD;   RAD50 Deficiency
 primary_id: MESH:C567767;   RDO:0015738
 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 16909
    Pathological Conditions, Signs and Symptoms 9879
      Pathologic Processes 6532
        Growth Disorders 765
          Nijmegen Breakage Syndrome-Like Disorder 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal dominant disease 3709
                complex cortical dysplasia with other brain malformations 1163
                  Malformations of Cortical Development, Group I 1023
                    microcephaly 872
                      Nijmegen Breakage Syndrome-Like Disorder 1
paths to the root