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loading...| Preferred Name |
Neutropenia, severe congenital 1, autosomal dominant |
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| 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 |
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| 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 |
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| 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 | REXO | SAME_URI | |
| http://identifiers.org/omim/202700 | RETO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0042490 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0042490 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0042490 | DOVES | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/202700 | OMIM | LOOM | |
| http://identifiers.org/omim/202700 | REXO | LOOM | |
| http://identifiers.org/omim/202700 | RETO | LOOM |