autosomal recessive chronic granulomatous disease 3

Term ID

DOID:0070194

Synonyms

• autosomal recessive chronic granulomatous disease cytochrome b-positive type III
• autosomal recessive cytochrome b-positive CGD type III
• CDG3
• chronic granulomatous disease due to NCF4 deficiency

Definition

A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12. https://www.ncbi.nlm.nih.gov/pubmed/19692703

References

• MIM:613960

Ontology

Human Disease   ( DOID:0070194 )