loading...| Preferred Name |
Primary Immunodeficiency Diseases |
|
| Synonyms |
Primary Immunodeficiency Syndrome Primary Immune Deficiency |
|
| Definitions |
Genetic immunologic deficiency diseases and syndromes due to mutations in genes involved in IMMUNITY generally characterized by an increased susceptibility to infectious diseases. They are often associated with AUTOIMMUNE DISEASE manifestations. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D000081207 |
|
| altLabel |
Primary Immunodeficiency Syndrome Congenital Immunodeficiency Disorder Congenital Immunodeficiency Disorders Immunodeficiency Disorder, Primary Primary Immune Deficiency Disorders Primary Immune Deficiency Disease Primary Immune Deficiencies Immunodeficiency Syndrome, Inherited Immunodeficiency Syndromes, Inherited Immunodeficiency Disorder, Inherited Primary Antibody Deficiency Disorder Immunodeficiency Syndrome, Congenital Primary Immunodeficiency Disease Inherited Immunodeficiency Disorders Primary Immune Deficiency Syndrome Primary Immune Deficiency Diseases Immunodeficiency Diseases, Congenital Immunodeficiency Syndromes, Congenital Immunodeficiency Diseases, Primary Immunodeficiency Disorders, Inherited Primary Immune Deficiency Syndromes Primary Antibody Deficiency Syndrome Primary Immune Deficiency Disorder Inherited Immunodeficiency Syndromes Immunodeficiency Disorders, Congenital Immunodeficiency Syndromes, Primary Congenital Immunodeficiency Syndromes Primary Immunodeficiency Disorders Primary Antibody Deficiency Disorders Immunodeficiency Disorder, Congenital Immunodeficiency Disease, Inherited Inherited Immunodeficiency Syndrome Immunodeficiency Diseases, Inherited Congenital Immunodeficiency Syndrome Primary Antibody Deficiency Immunodeficiency Disease, Congenital Antibody Deficiency, Primary Primary Antibody Deficiencies Primary Immunodeficiency Disorder Deficiency, Primary Immune Immunodeficiency Disease, Primary Congenital Immunodeficiency Disease Primary Immunodeficiency Syndromes Immune Deficiency, Primary Congenital Immunodeficiency Diseases Inherited Immunodeficiency Disorder Inherited Immunodeficiency Disease Inherited Immunodeficiency Diseases Primary Antibody Deficiency Syndromes Immunodeficiency Syndrome, Primary Primary Immune Deficiency |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0398686 C5197805 C0272229 C5197804 |
|
| DC |
1 |
|
| definition |
Genetic immunologic deficiency diseases and syndromes due to mutations in genes involved in IMMUNITY generally characterized by an increased susceptibility to infectious diseases. They are often associated with AUTOIMMUNE DISEASE manifestations. |
|
| DX |
20200101 |
|
| HN |
2020 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2020 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C563824 http://purl.bioontology.org/ontology/MESH/C567200 http://purl.bioontology.org/ontology/MESH/C563745 http://purl.bioontology.org/ontology/MESH/C536780 http://purl.bioontology.org/ontology/MESH/C537025 http://purl.bioontology.org/ontology/MESH/C563949 http://purl.bioontology.org/ontology/MESH/C567453 http://purl.bioontology.org/ontology/MESH/C564120 http://purl.bioontology.org/ontology/MESH/C537302 http://purl.bioontology.org/ontology/MESH/C562587 http://purl.bioontology.org/ontology/MESH/C535866 http://purl.bioontology.org/ontology/MESH/C537362 http://purl.bioontology.org/ontology/MESH/C536181 http://purl.bioontology.org/ontology/MESH/C536697 http://purl.bioontology.org/ontology/MESH/C535915 http://purl.bioontology.org/ontology/MESH/C535916 http://purl.bioontology.org/ontology/MESH/C564136 http://purl.bioontology.org/ontology/MESH/C566275 http://purl.bioontology.org/ontology/MESH/C567411 http://purl.bioontology.org/ontology/MESH/C567379 http://purl.bioontology.org/ontology/MESH/C563028 http://purl.bioontology.org/ontology/MESH/C564538 http://purl.bioontology.org/ontology/MESH/C585640 http://purl.bioontology.org/ontology/MESH/C536629 http://purl.bioontology.org/ontology/MESH/C564770 http://purl.bioontology.org/ontology/MESH/C564275 http://purl.bioontology.org/ontology/MESH/C565712 http://purl.bioontology.org/ontology/MESH/C538399 http://purl.bioontology.org/ontology/MESH/C564352 |
|
| MDA |
20190708 |
|
| MMR |
20200527 |
|
| MN |
C20.673.795 C16.320.798 |
|
| notation |
D000081207 |
|
| prefLabel |
Primary Immunodeficiency Diseases |
|
| TERMUI |
T000999068 T000958731 T000999067 T000958734 T000999058 T000999056 T000958729 T000999065 T000999063 T000958691 T000958692 T000958730 T000958728 T000958733 T000999060 T000999069 T000958687 T000958690 T000958732 T000958666 T000999059 T000999064 T000999057 T000958689 T000958680 T000958688 T000999066 T000999062 T000958667 |
|
| TH |
NLM (2020) NLM (2021) |
|
| tui |
T047 |
|
| subClassOf |