Metadata | |
---|---|
ID | DOID:0070192 |
Name | autosomal recessive chronic granulomatous disease 1 |
Definition | A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23. https://www.ncbi.nlm.nih.gov/pubmed/2770793 |
Xrefs | |
Synonyms |
autosomal recessive chronic granulomatous disease cytochrome b-positive type I [EXACT] CDG1 [EXACT] chronic granulomatous disease due to deficiency of NCF-1 [EXACT] deficiency of NCF1 [EXACT] deficiency of neutrophil cytosol factor 1 [EXACT] deficiency of p47-PHOX [EXACT] deficiency of SOC2 [EXACT] deficiency of soluble oxidase component II [EXACT] |
Parent Relationships |