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loading...| Preferred Name |
Autosomal Dominant Severe Congenital Neutropenia |
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| Synonyms |
Autosomal Dominant Severe Congenital Neutropenia Autosomal Dominant SCN |
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| Definitions |
Severe congenital neutropenia inherited in an autosomal dominant pattern. Mutations in the ELANE gene have been reported in approximately half of the cases. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C166155 |
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| code |
C166155 |
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| DEFINITION |
Severe congenital neutropenia inherited in an autosomal dominant pattern. Mutations in the ELANE gene have been reported in approximately half of the cases. |
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| FULL_SYN |
Autosomal Dominant Severe Congenital Neutropenia Autosomal Dominant SCN |
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| label |
Autosomal Dominant Severe Congenital Neutropenia |
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| NCI_META_CUI |
CL495086 |
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| Preferred_Name |
Autosomal Dominant Severe Congenital Neutropenia |
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| prefixIRI |
Thesaurus:C166155 |
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| Semantic_Type |
Disease or Syndrome |
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| subClassOf |
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