Metadata | |
---|---|
ID | DOID:0070194 |
Name | autosomal recessive chronic granulomatous disease 3 |
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 |
Xrefs | |
Synonyms |
autosomal recessive chronic granulomatous disease cytochrome b-positive type III [EXACT] autosomal recessive cytochrome b-positive CGD type III [EXACT] CDG3 [EXACT] chronic granulomatous disease due to NCF4 deficiency [EXACT] |
Parent Relationships |