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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: Aleukocytosis;   Congenital aleukia;   De Vaal Disease;   DeVaal disease;   Hematopoietic Hypoplasia, Generalized;   Immunoerythromyeloid Hypoplasia;   Reticular dysgenesia;   Severe combined immunodeficiency with leukopenia
 primary_id: MESH:C538361
 alt_id: OMIM:267500;   RDO:0004332
 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 ClinVar Annotator: match by OMIM:267500
DNA:missense,nonsense mutations:cds:
ClinVar Annotator: match by term: Reticular dysgenesis
OMIM
ClinVar
PMID:19043416, PMID:19043417, PMID:23014587, PMID:23763981, PMID:24033266, PMID:25741868, PMID:28331055, PMID:28492532, PMID:29713328, PMID:30697212, PMID:19043416 RGD:11100026 NCBI chr 5:147,185,474...147,204,050
Ensembl chr 5:147,185,474...147,204,050
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      primary immunodeficiency disease 2348
        combined immunodeficiency 148
          severe combined immunodeficiency 91
            reticular dysgenesis 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Immune & Inflammatory Diseases 3511
        immune system disease 2931
          primary immunodeficiency disease 2348
            combined immunodeficiency 148
              severe combined immunodeficiency 91
                reticular dysgenesis 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.