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DO Term : severe congenital neutropenia 6 [DOID:0112134] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3.
  • synonyms:
  • SCN6,
  • OMIM:616022,
  • ORDO:423384,
  • autosomal recessive severe congenital neutropenia due to JAGN1 deficiency,
  • 616022
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