Search Ontology:
Human Disease

severe congenital neutropenia 6

Term ID
DOID:0112134
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. https://pubmed.ncbi.nlm.nih.gov/25129144/
References
Ontology
Human Disease   ( DOID:0112134 )
Relationships
is a type of
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Genes Involved
Zebrafish Models