OBO ID: DOID:0112134
Term Name: severe congenital neutropenia 6 Search Ontology:
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 JAGN1 on chromosome 3p25.3. https://pubmed.ncbi.nlm.nih.gov/25129144/
References:
Ontology: Human Disease   (DOID:0112134)
OTHER severe congenital neutropenia 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
JAGN1 Neutropenia, severe congenital, 6, autosomal recessive 616022
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None