Jump to:
loading...| Preferred Name |
Autosomal Dominant Severe Congenital Neutropenia |
|
| Synonyms |
|
|
| Definitions |
Severe congenital neutropenia inherited in an autosomal dominant pattern. Mutations in the ELANE gene have been reported in approximately half of the cases. |
|
| ID |
http://purl.obolibrary.org/obo/NCIT_C166155 |
|
| code |
C166155 |
|
| definition |
Severe congenital neutropenia inherited in an autosomal dominant pattern. Mutations in the ELANE gene have been reported in approximately half of the cases. |
|
| label |
Autosomal Dominant Severe Congenital Neutropenia |
|
| NCI_META_CUI |
CL495086 |
|
| Preferred_Name |
Autosomal Dominant Severe Congenital Neutropenia |
|
| prefixIRI |
NCIT:C166155 |
|
| prefLabel |
Autosomal Dominant Severe Congenital Neutropenia |
|
| Semantic_Type |
Disease or Syndrome |
|
| subClassOf |
Create mapping