Metadata | |
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ID | DOID:0080625 |
Name | severe congenital neutropenia 1 |
Definition | A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/17133096 |
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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance disease has basis in some Abnormality of prenatal development or birth |