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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: Congenital aleukia;   De Vaal Disease;   DeVaal disease;   Hematopoietic Hypoplasia, Generalized;   Immunoerythromyeloid Hypoplasia;   Reticular dysgenesia;   aleukocytosis;   severe combined immunodeficiency with leukopenia
 primary_id: MESH:C538361
 alt_id: OMIM:267500
 xref: GARD:8625;   NCI:C27070
For additional species annotation, visit the Alliance of Genome Resources.



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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
OMIM
ClinVar
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 18154
    syndrome 9705
      primary immunodeficiency disease 3835
        combined immunodeficiency 772
          severe combined immunodeficiency 453
            reticular dysgenesis 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      Immune & Inflammatory Diseases 5187
        immune system disease 4499
          primary immunodeficiency disease 3835
            combined immunodeficiency 772
              severe combined immunodeficiency 453
                reticular dysgenesis 1
paths to the root