loading...| Preferred Name | primary immunodeficiency disease | |
| Synonyms |
hypoimmunity immunodeficiency syndrome immune deficiency disorder |
|
| Definitions |
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. Xref MGI. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_612 |
|
| comment |
Xref MGI. |
|
| alternative label |
hypoimmunity immunodeficiency syndrome immune deficiency disorder |
|
| database_cross_reference |
ICD9CM:279.3 OMIM:PS300755 ICD10CM:D84.9 MESH:D007153 SNOMEDCT_US_2023_03_01:191005003 OMIM:242850 UMLS_CUI:C0021051 KEGG:05340 NCI:C39725 |
|
| 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. Xref MGI. |
|
| has exact synonym |
hypoimmunity immunodeficiency syndrome immune deficiency disorder |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:612 |
|
| in_subset | ||
| label |
primary immunodeficiency disease |
|
| notation |
DOID:612 |
|
| note |
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. Xref MGI. |
|
| preferred label |
primary immunodeficiency disease |
|
| prefLabel |
primary immunodeficiency disease |
|
| subClassOf |
http://uri.neuinfo.org/nif/nifstd/birnlex_11013 |