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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 ClinVar Annotator: match by term: Reticular dysgenesis OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19043416 PMID:19043417 PMID:19414857 More... NCBI chr20:99,834,286...99,863,071
Ensembl chr20:99,834,334...99,858,781 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    syndrome 10365
      primary immunodeficiency disease 3871
        combined immunodeficiency 918
          severe combined immunodeficiency 510
            reticular dysgenesis 1
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      Immune & Inflammatory Diseases 5133
        immune system disease 4465
          primary immunodeficiency disease 3871
            combined immunodeficiency 918
              severe combined immunodeficiency 510
                reticular dysgenesis 1
paths to the root