Term Name: | severe congenital neutropenia 4 |
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Synonyms: | autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Dursun syndrome, SCN4, severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome |
Definition: | A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31. |
Ontology: | Human Disease [DOID:0112136] ( DOID:0112136 ) |