loading...| Preferred Name |
primary immunodeficiency disease |
| Synonyms |
immune deficiency disorder |
| Definitions |
Xref MGI. 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 |
http://purl.obolibrary.org/obo/DOID_612 |
| comment |
Xref MGI. |
| database_cross_reference |
OMIM:242850 ICD9CM:279.3 KEGG:05340 NCI:C39725 UMLS_CUI:C0021051 ICD10CM:D84.9 MESH:D007153 OMIM:PS300755 SNOMEDCT_US_2020_03_01:191005003 |
| has exact synonym |
immune deficiency disorder hypoimmunity immunodeficiency syndrome |
| id |
DOID:612 |
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
| label |
primary immunodeficiency disease |
| notation |
DOID:612 |
| prefLabel |
primary immunodeficiency disease |
| textual 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. |
| 引自 | |
| 有_obo_命名空间 |
disease_ontology |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_612 | Human Disease Ontology / 人类疾病本体 | LOOM | |
| http://purl.obolibrary.org/obo/DOID_612 | Human Disease Ontology / 人类疾病本体 | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_612 | GenEpiO / 基因组流行病学本体 | LOOM | |
| http://purl.obolibrary.org/obo/DOID_612 | GenEpiO / 基因组流行病学本体 | SAME_URI |