Term Name: severe congenital neutropenia 6
Synonyms: autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, SCN6
Definition: A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3.
Ontology: Human Disease [DOID:0112134]   ( DOID:0112134 )

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