OBO ID: DOID:0060020
Term Name: reticular dysgenesis Search Ontology:
Synonyms:
  • aleukocytosis
  • De Vaal 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. (2)
References:
Ontology: Human Disease   (DOID:0060020)
OTHER reticular dysgenesis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AK2 Reticular dysgenesis 267500
ZEBRAFISH MODELS
Fish Conditions Citations
ak2hg14/hg14 control (2)
ak2hg15/hg15 control Rissone et al., 2019
ak2hg16/hg16 control (2)
PHENOTYPE No data available

CITATIONS (4)