OBO ID: DOID:0112136
Term Name: severe congenital neutropenia 4 Search Ontology:
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 G6PC3 on chromosome 17q21.31. https://pubmed.ncbi.nlm.nih.gov/19118303/
References:
Ontology: Human Disease   (DOID:0112136)
OTHER severe congenital neutropenia 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
G6PC3 Dursun syndrome 612541
Neutropenia, severe congenital 4, autosomal recessive 612541
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None