severe congenital neutropenia 6 (DOID:0112134)
Alliance: disease page
Synonyms: autosomal recessive severe congenital neutropenia due to JAGN1 deficiency; SCN6
Alt IDs: OMIM:616022, ORDO:423384
Definition: A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3.