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Metadata
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

GARD:9558

ORDO:486

Subsets

DO_rare_slim

Parent Relationships

is_a autosomal dominant disease

is_a severe congenital neutropenia

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

disease has basis in some Abnormality of prenatal development or birth

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