Term Name: severe congenital neutropenia 4
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 )

Relationships
is a type of: autosomal recessive disease severe congenital neutropenia