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

• OMIM:612541
• ORDO:331176

Ontology

Human Disease   ( DOID:0112136 )