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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:NEMO Mutation with Immunodeficiency
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Accession:DOID:9006625 term browser browse the term
Synonyms:exact_synonym: NF-kappa B essential modulator (NEMO) mutation with immunodeficiency
 primary_id: MESH:C538399;   RDO:0004376


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      primary immunodeficiency disease 4151
        NEMO Mutation with Immunodeficiency 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              Genetic Skin Diseases 1852
                ectodermal dysplasia 542
                  NEMO Mutation with Immunodeficiency 0
paths to the root