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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: OMIM:242880;   OMIM: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 5:141,308,650...141,364,633
Ensembl chr 5:141,346,063...141,364,632
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    syndrome 10749
      primary immunodeficiency disease 4143
        combined immunodeficiency 908
          severe combined immunodeficiency 488
            reticular dysgenesis 1
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      Immune & Inflammatory Diseases 5559
        immune system disease 4770
          primary immunodeficiency disease 4143
            combined immunodeficiency 908
              severe combined immunodeficiency 488
                reticular dysgenesis 1
paths to the root