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. |
|
database_cross_reference |
OMIM:242850 NCI:C39725 SNOMEDCT_US_2021_09_01:191005003 KEGG:05340 ICD10CM:D84.9 ICD9CM:279.3 UMLS_CUI:C0021051 MESH:D007153 OMIM:PS300755 |
|
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 |
|
IAO_0000115 |
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. |
|
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. |
|
prefLabel |
primary immunodeficiency disease |
|
subClassOf |