| Metadata | |
|---|---|
| ID | DOID:0060020 |
| Name | reticular dysgenesis |
| 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. http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum, http://www.ncbi.nlm.nih.gov/gene/204? |
| Xrefs |
SNOMEDCT_US_2023_03_01:111584000 |
| Alternateids |
DOID:1226 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
aleukocytosis [RELATED] De Vaal disease [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has phenotype some Abnormal thymus morphology has material basis in some autosomal recessive inheritance has symptom some lymphopenia |