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

• OMIM:616022
• ORDO:423384

Ontology

Human Disease   ( DOID:0112134 )