FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term reticular dysgenesis ID (Ontology) DOID:0060020 (Human Disease)
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.
Also Known As "De Vaal disease"
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 Genes
 reticular dysgenesis       1
 for disease ribbon | reticular dysgenesis       1
 model of | reticular dysgenesis       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_______
combined immunodeficiency             |
 |__severe combined immunodeficiency__|
                                      reticular dysgenesis  1 rec.
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Is a autosomal recessive disease
severe combined immunodeficiency
Part of
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Synonyms
  • "aleukocytosis" RELATED
    "De Vaal disease" EXACT
Secondary IDs
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GARD:8625
MESH:C538361
MIM:267500
NCI:C27070
SNOMEDCT_US_2023_03_01:111584000
UMLS_CUI:C0272167