| Metadata | |
|---|---|
| ID | DOID:612 |
| Name | primary immunodeficiency disease |
| Definition | An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#PrimaryImmunoDiseases |
| Xrefs |
KEGG:05340 SNOMEDCT_US_2023_03_01:191005003 |
| Subsets |
DO_FlyBase_slim NCIthesaurus |
| Synonyms |
hypoimmunity [EXACT] immune deficiency disorder [EXACT] immunodeficiency syndrome [EXACT] |
| Parent Relationships | |
| Equivalent Logical Relationships |
disease and has phenotype some Abnormality of immune system physiology |