| Metadata | |
|---|---|
| ID | DOID:0112129 |
| Name | severe congenital neutropenia 7 |
| Definition | A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3. https://pubmed.ncbi.nlm.nih.gov/24753537/, https://pubmed.ncbi.nlm.nih.gov/26324699/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive severe congenital neutropenia due to CSF3R deficiency [EXACT] SCN7 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |