loading...| Preferred Name |
Granulomatous Disease, Chronic |
|
| Synonyms |
Cytochrome B-Positive Granulomatous Disease, Chronic, X-Linked |
|
| Definitions |
A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D006105 |
|
| altLabel |
Cytochrome B-Positive Granulomatous Disease, Chronic, X-Linked Chronic Granulomatous Diseases X-Linked Chronic Granulomatous Disease Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked Granulomatous Diseases, Chronic X Linked Chronic Granulomatous Disease Chronic Granulomatous Disease, X-Linked Chronic Granulomatous Disease, X Linked Chronic Granulomatous Disease Chronic Granulomatous Disease, Atypical Granulomatous Disease, Chronic, X-Linked, Variant Granulomatous Disease, Chronic, X-Linked |
|
| AN |
also called granulomatous disease of childhood |
|
| AQL |
BL CF CI CL CN 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 |
C3661525 C0018203 C1844376 |
|
| DC |
1 |
|
| definition |
A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern. |
|
| DX |
19780101 |
|
| HN |
78(75); was see under PHAGOCYTE BACTERICIDAL DYSFUNCTION 1972-77 |
|
| 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/Q000151 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 |
|
| Inverse of RO | ||
| Machine permutation |
78; was see under PHAGOCYTE BACTERICIDAL DYSFUNCTION 1972-77 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C567115 http://purl.bioontology.org/ontology/MESH/C564210 http://purl.bioontology.org/ontology/MESH/C565534 http://purl.bioontology.org/ontology/MESH/C565531 |
|
| MDA |
19990101 |
|
| MMR |
20210312 |
|
| MN |
C16.320.322.233 C15.378.553.774.535 C20.673.774.535 C23.550.291.500.423 |
|
| notation |
D006105 |
|
| OL |
search PHAGOCYTE BACTERICIDAL DYSFUNCTION 1972-74 |
|
| prefLabel |
Granulomatous Disease, Chronic |
|
| TERMUI |
T841118 T804835 T841120 T018533 T804836 T804837 T841119 T804838 T804839 T804840 |
|
| TH |
OMIM (2013) NLM (1975) GHR (2014) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D010585 |