OBO ID: DOID:0060020 |
Term Name: | reticular dysgenesis | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
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
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)
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.