FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term severe congenital neutropenia ID (Ontology) DOID:0050590 (Human Disease)
Definition A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
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agranulocytosis
 |__neutropenia________
disease                |
 |__physical disorder__|
                       severe congenital neutropenia  17 rec.
                        |__autosomal dominant severe congenital neutropenia 3 rec.
                        |   |__severe congenital neutropenia 2 2 rec.
                        |   |__severe congenital neutropenia 8 1 rec.
                        |__severe congenital neutropenia 1 9 rec.
                        |__severe congenital neutropenia 3 1 rec.
                        |__severe congenital neutropenia 4 1 rec.
                        |__severe congenital neutropenia 5 1 rec.
                        |__severe congenital neutropenia 6 1 rec.
                        |__severe congenital neutropenia 7
                        |__X-linked severe congenital neutropenia 1 rec.
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neutropenia
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GARD:13592
ICD10CM:D70
MIM:PS202700
ORDO:42738