loading...| Preferred Name | agammaglobulinemia | |
| Synonyms |
antibody Deficiency Immunoglobulin Deficiency Gammaglobulin Deficiency mu heavy chain deficiency agammaglobulinemia hypogammaglobulinemia IGHM |
|
| Definitions |
A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0015977 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0015977 |
|
| database_cross_reference |
OMIMPS:601495 ICD9:279.00 Orphanet:183669 MESH:D000361 MedDRA:10001471 UMLS:C0001768 DOID:2583 GARD:20320 MEDGEN:168 |
|
| definition |
A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes. |
|
| has_exact_synonym |
mu heavy chain deficiency agammaglobulinemia hypogammaglobulinemia IGHM |
|
| has_related_synonym |
antibody Deficiency Immunoglobulin Deficiency Gammaglobulin Deficiency |
|
| id |
MONDO:0015977 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen 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 |
agammaglobulinemia |
|
| notation |
MONDO:0015977 |
|
| preferred label |
agammaglobulinemia |
|
| prefLabel |
agammaglobulinemia |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/mesh/D000361 http://purl.obolibrary.org/obo/Orphanet_183669 http://linkedlifedata.com/resource/umls/id/C0001768 https://omim.org/phenotypicSeries/PS601495 |
|
| subClassOf |