FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term autosomal dominant severe congenital neutropenia ID (Ontology) DOID:0112130 (Human Disease)
Definition A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene.
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autosomal genetic disease
 |__autosomal dominant disease_____
physical disorder                  |
 |__severe congenital neutropenia__|
neutropenia                        |
 |__severe congenital neutropenia__|
                                   autosomal dominant severe congenital neutropenia  3 rec.
                                    |__severe congenital neutropenia 2 2 rec.
                                    |__severe congenital neutropenia 8 1 rec.
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Is a severe congenital neutropenia
autosomal dominant disease
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GARD:9558
ORDO:486