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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:reticular dysgenesis
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Accession:DOID:0060020 term browser browse the term
Definition:A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. (DO)
Synonyms:exact_synonym: De Vaal Disease;   DeVaal disease;   Hematopoietic Hypoplasia, Generalized;   Immunoerythromyeloid Hypoplasia;   aleukocytosis;   congenital aleukia;   reticular dysgenesia;   severe combined immunodeficiency with leukopenia
 primary_id: MESH:C538361
 alt_id: MIM:242880;   MIM:267500
 xref: GARD:8625;   NCI:C27070


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reticular dysgenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak2 adenylate kinase 2 ISO DNA:missense,nonsense mutations:cds:
ClinVar Annotator: match by term: Reticular dysgenesis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:17576681 PMID:19043416 PMID:19043417 PMID:19414857 More... RGD:11100026 NCBI chr 5:146,609,469...146,649,008 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11370
      primary immunodeficiency disease 4431
        combined immunodeficiency 949
          severe combined immunodeficiency 529
            reticular dysgenesis 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      Immune & Inflammatory Diseases 5751
        immune system disease 5029
          primary immunodeficiency disease 4431
            combined immunodeficiency 949
              severe combined immunodeficiency 529
                reticular dysgenesis 1
paths to the root