Metadata | |
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ID | DOID:0070191 |
Name | autosomal recessive chronic granulomatous disease 2 |
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 | |
Synonyms |
autosomal recessive chronic granulomatous disease cytochrome b-positive type II [EXACT] CDG2 [EXACT] chronic granulomatous disease due to deficiency of NCF-2 [EXACT] deficiency of NCF2 [EXACT] deficiency of p67-PHOX [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |