autosomal recessive chronic granulomatous disease 4

Term ID

DOID:0070193

Synonyms

• autosomal recessive chronic granulomatous disease cytochrome b-negative
• autosomal recessive cytochrome b-negative CGD
• CGD due to deficiency of the alpha subunit of cytochrome b
• chronic granulomatous disease due to deficiency of CYBA
• CYBA deficiency

Definition

A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2. https://www.ncbi.nlm.nih.gov/pubmed/2770793

References

• OMIM:233690

Ontology

Human Disease   ( DOID:0070193 )