Search Ontology:
Human Disease

severe congenital neutropenia 4

Term ID
DOID:0112136
Synonyms
  • autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • Dursun syndrome
  • SCN4
  • severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
Definition
A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31. https://pubmed.ncbi.nlm.nih.gov/19118303/
References
Ontology
Human Disease   ( DOID:0112136 )
Relationships
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Genes Involved
Zebrafish Models