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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 16058
    Pathological Conditions, Signs and Symptoms 8739
      Pathologic Processes 6124
        Growth Disorders 321
          Nijmegen Breakage Syndrome-Like Disorder 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  Malformations of Cortical Development, Group I 597
                    microcephaly 433
                      Nijmegen Breakage Syndrome-Like Disorder 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.