Preferred Name | Neutropenia, severe congenital 1, autosomal dominant | |
Synonyms |
SCN1 |
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Definitions |
(SCN1) - A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)|l and early onset of severe bacterial infections. |
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ID |
http://identifiers.org/omim/202700 |
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altLabel |
SCN1 |
|
definition |
(SCN1) - A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)|l and early onset of severe bacterial infections. |
|
id |
OMIM:202700 |
|
notation |
OMIM:202700 |
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prefLabel |
Neutropenia, severe congenital 1, autosomal dominant |
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subClassOf |
Create mapping
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://identifiers.org/omim/202700 | GEXO | SAME_URI | |
http://identifiers.org/omim/202700 | RETO | SAME_URI | |
http://purl.obolibrary.org/obo/MONDO_0042490 | EFO | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0042490 | MONDO | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0042490 | DOVES | LOOM | |
http://purl.bioontology.org/ontology/OMIM/202700 | OMIM | LOOM | |
http://identifiers.org/omim/202700 | GEXO | LOOM | |
http://identifiers.org/omim/202700 | RETO | LOOM |