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Metadata
ID DOID:0070191
Name autosomal recessive chronic granulomatous disease cytochrome b-positive type II
Definition A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25.
https://www.ncbi.nlm.nih.gov/pubmed/7795241
Xrefs

OMIM:233710

Synonyms

autosomal recessive chronic granulomatous disease 2 [EXACT]

CDG2 [EXACT]

chronic granulomatous disease due to deficiency of NCF-2 [EXACT]

deficiency of NCF2 [EXACT]

deficiency of p67-PHOX [EXACT]

Parent Relationships

is_a chronic granulomatous disease

is_a autosomal recessive disease

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