loading...| Preferred Name |
Granulomatous Disease, Chronic [Disease/Finding] |
|
| Synonyms |
Granulomatous Disease, Chronic |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001391 |
|
| altLabel |
Granulomatous Disease, Chronic Chronic Granulomatous Disease |
|
| cui |
C0018203 |
|
| MESH 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. |
|
| MESH DUI |
D006105 |
|
| MeSH name |
Granulomatous Disease, Chronic |
|
| MESH UI |
M0009615 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001391 |
|
| NUI |
N0000001391 |
|
| prefLabel |
Granulomatous Disease, Chronic [Disease/Finding] |
|
| SNOMED CID |
191352003 387759001 |
|
| tui |
T047 |
|
| subClassOf |