Term Name: | severe congenital neutropenia 6 |
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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 ) |