Preferred Name | Neutropenia severe congenital autosomal recessive 3 | |
Synonyms |
|
|
Definitions |
(SCN3): 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. Some patients affected by severe congenital neutropenia type 3 have neurological manifestations such as psychomotor retardation and seizures. |
|
ID |
http://purl.obolibrary.org/obo/OMIM_610738 |
|
definition |
(SCN3): 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. Some patients affected by severe congenital neutropenia type 3 have neurological manifestations such as psychomotor retardation and seizures. |
|
has_obo_namespace |
cell_cycle_ontology |
|
id |
OMIM:610738 |
|
label |
Neutropenia severe congenital autosomal recessive 3 |
|
notation |
OMIM:610738 |
|
prefLabel |
Neutropenia severe congenital autosomal recessive 3 |
|
treeView | ||
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537592 | RH-MESH | LOOM | |
http://purl.bioontology.org/ontology/MESH/C537592 | MESH | LOOM |