| Metadata | |
|---|---|
| ID | DOID:0112136 |
| Name | severe congenital neutropenia 4 |
| Definition | A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31. https://pubmed.ncbi.nlm.nih.gov/19118303/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [EXACT] Dursun syndrome [EXACT] SCN4 [EXACT] severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome [EXACT] |
| Parent Relationships |