Metadata | |
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ID | DOID:0112130 |
Name | autosomal dominant severe congenital neutropenia |
Definition | A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene. https://pubmed.ncbi.nlm.nih.gov/28593997/, https://medlineplus.gov/genetics/condition/severe-congenital-neutropenia |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance disease has basis in some Abnormality of prenatal development or birth |