Preferred Name | inborn error of immunity | |
Synonyms |
deficiency syndrome, antibody deficiency syndrome, immunologic syndromes, antibody deficiency deficiency syndromes, immunological immunodeficiency syndrome immunological deficiency syndrome deficiency syndromes, antibody syndromes, immunologic deficiency deficiency syndromes, immunologic immunological deficiency syndromes syndrome, immunologic deficiency syndrome, antibody deficiency immune deficiency disorder deficiency syndrome, immunological immunologic deficiency syndrome primary immunodeficiency antibody deficiency syndrome antibody deficiency syndromes syndromes, immunological deficiency syndrome, immunological deficiency hypoimmunity inborn errors of immunity primary immunodeficiency disease IEI |
|
Definitions |
A disorder in which the immune system is unable to mount an adequate immune response. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0003778 |
|
database_cross_reference |
SCTID:234532001 UMLS:C0398686 NANDO:1200320 NANDO:2100204 MEDGEN:585013 Orphanet:101997 MESH:D007153 SCTID:58606001 DOID:612 GARD:19813 ICD9:279.3 NCIT:C3131 |
|
definition |
A disorder in which the immune system is unable to mount an adequate immune response. |
|
gwas_trait |
true |
|
has_exact_synonym |
hypoimmunity inborn errors of immunity primary immunodeficiency disease IEI |
|
has_related_synonym |
deficiency syndrome, antibody deficiency syndrome, immunologic syndromes, antibody deficiency deficiency syndromes, immunological immunodeficiency syndrome immunological deficiency syndrome deficiency syndromes, antibody syndromes, immunologic deficiency deficiency syndromes, immunologic immunological deficiency syndromes syndrome, immunologic deficiency syndrome, antibody deficiency immune deficiency disorder deficiency syndrome, immunological immunologic deficiency syndrome primary immunodeficiency antibody deficiency syndrome antibody deficiency syndromes syndromes, immunological deficiency syndrome, immunological deficiency |
|
id |
MONDO:0003778 |
|
in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
label |
inborn error of immunity |
|
notation |
MONDO:0003778 |
|
preferred label |
inborn error of immunity |
|
prefLabel |
inborn error of immunity |
|
skos_exactMatch |
http://identifiers.org/snomedct/58606001 http://purl.obolibrary.org/obo/Orphanet_101997 http://purl.obolibrary.org/obo/DOID_612 http://linkedlifedata.com/resource/umls/id/C0398686 |
|
subClassOf | ||
excluded_subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.obolibrary.org/obo/MONDO_0003778 | MONDO | SAME_URI | |
http://purl.obolibrary.org/obo/MONDO_0003778 | EFO | SAME_URI | |
http://purl.obolibrary.org/obo/MONDO_0003778 | DOVES | SAME_URI | |
http://purl.obolibrary.org/obo/MONDO_0003778 | KTAO | SAME_URI | |
http://purl.obolibrary.org/obo/MONDO_0003778 | OBA | SAME_URI | |
http://purl.obolibrary.org/obo/MONDO_0003778 | MONDO | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0003778 | EFO | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0003778 | DOVES | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0003778 | OBA | LOOM |