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General Information
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| Term |
severe congenital neutropenia 3 |
ID (Ontology) |
DOID:0112133 (Human Disease) |
| Definition |
A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3. |
| Also Known As |
"infantile agranulocytosis" ; "Kostmann disease" ; "Kostmann syndrome" (for all, see Synonyms field below) |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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severe congenital neutropenia 3 | 1 | for disease ribbon | severe congenital neutropenia 3 | 1 | model of | severe congenital neutropenia 3 | 1 |
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Relationships