loading...| Preferred Name |
Severe congenital neutropenia |
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| Synonyms |
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| Definitions |
Severe congenital neutropenia is an immunodeficiency characterized by low levels of granulocytes (< 200/mm3) without an associated lymphocyte deficit. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_42738 |
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| definition |
Severe congenital neutropenia is an immunodeficiency characterized by low levels of granulocytes (< 200/mm3) without an associated lymphocyte deficit. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=42738 |
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| has_age_of_onset |
Childhood |
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| has_inheritance |
Autosomal recessive X-linked recessive Autosomal dominant |
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| hasDbXref |
MedDRA:10052210 UMLS:C1853118 |
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| label |
Severe congenital neutropenia |
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| notation |
ORPHA:42738 Clinical group |
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| prefixIRI |
ORDO:Orphanet_42738 |
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| prefLabel |
Severe congenital neutropenia |
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| present_in |
Iran, Islamic Republic of AND has_point_prevalence_average_value : 0.077 AND has_point_prevalence_range : <1 / 1 000 000 Sweden AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_point_prevalence_average_value : 0.6 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000 China AND has_point_prevalence_average_value : 25.7 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 0.4 AND has_point_prevalence_range : 1-9 / 1 000 000 |
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| subClassOf |