loading...| Preferred Name |
Chronic granulomatous disease |
|
| Synonyms |
Chronic septic granulomatosis |
|
| Definitions |
A rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_379 |
|
| alternative_term |
Chronic septic granulomatosis CGD |
|
| definition |
A rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379 |
|
| has_age_of_onset |
Adolescent Adult Childhood Infancy |
|
| has_inheritance |
Autosomal recessive X-linked recessive |
|
| hasDbXref |
OMIM:233700 UMLS:C0018203 ICD-11:4A00.0Y OMIM:233690 MedDRA:10008906 OMIM:618935 OMIM:233710 OMIM:306400 OMIM:613960 MeSH:D006105 ICD-10:D71 |
|
| label |
Chronic granulomatous disease |
|
| notation |
ORPHA:379 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_264714 http://www.orpha.net/ORDO/Orphanet_183494 http://www.orpha.net/ORDO/Orphanet_79391 http://www.orpha.net/ORDO/Orphanet_183681 http://www.orpha.net/ORDO/Orphanet_280933 http://www.orpha.net/ORDO/Orphanet_280930 http://www.orpha.net/ORDO/Orphanet_280926 |
|
| prefixIRI |
ORDO:Orphanet_379 |
|
| prefLabel |
Chronic granulomatous disease |
|
| present_in |
Worldwide AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Latin America AND has_birth_prevalence_average_value : 0.99 AND has_birth_prevalence_range : 1-9 / 1 000 000 Sweden AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 0.57 AND has_birth_prevalence_range : 1-9 / 1 000 000 Denmark AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 Korea, Republic of AND has_birth_prevalence_average_value : 0.34 AND has_birth_prevalence_range : 1-9 / 1 000 000 Japan AND has_birth_prevalence_average_value : 0.35 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_range : 1-9 / 1 000 000 Denmark AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 0.22 AND has_birth_prevalence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_range : 1-9 / 1 000 000 Israel AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 0.46 AND has_birth_prevalence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_range : 1-9 / 1 000 000 Israel AND has_birth_prevalence_average_value : 0.53 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.48 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.75 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_range : 1-9 / 1 000 000 Latin America AND has_point_prevalence_range : 1-9 / 1 000 000 Australia AND has_point_prevalence_average_value : 0.08 AND has_point_prevalence_range : <1 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Italy AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000 Korea, Republic of AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_range : 1-9 / 1 000 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_264714 http://www.orpha.net/ORDO/Orphanet_183494 http://www.orpha.net/ORDO/Orphanet_79391 http://www.orpha.net/ORDO/Orphanet_183681 http://www.orpha.net/ORDO/Orphanet_280933 http://www.orpha.net/ORDO/Orphanet_280930 http://www.orpha.net/ORDO/Orphanet_280926 |
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| subClassOf |