Granulomatous Disease, Chronic, Autosomal Recessive, 2 (CGD2)

Alias:

Chronic Granulomatous Disease Due to Deficiency of Ncf-2

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 2

Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Ii

P67-Phox Deficiency

Ncf2 Deficiency

Cgd2

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii

Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii

Granulomatous Disease, Chronic, Due to Deficiency of Ncf-2, Type 2

Cgd, Autosomal Recessive Cytochrome B-Positive, Type Ii

Granulomatous Disease, Chronic, Due to Ncf2 Deficiency

Chronic Granulomatous Disease 2, Autosomal Recessive

Autosomal Recessive Chronic Granulomatous Disease 2

Deficiency of Neutrophil Cytosol Factor 2

Neutrophil Cytosol Factor 2 Deficiency

Avellino Corneal Dystrophy

Deficiency of P67-Phox

Deficiency of Ncf2

Cdg2

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

2型慢性粒细胞增生性疾病，又称为由于缺乏ncf-2导致的慢性粒细胞增生性疾病，与角膜阿韦利诺型病和化脓性淋巴结炎有关，症状包括眩光-眼症状。与2型慢性粒细胞增生性疾病相关的基因是NCF2（中性粒细胞胞浆因子2），其相关通路/超通路包括糖基化和相关先天缺陷以及活性氧的解毒。相关组织包括中性粒细胞和骨髓，相关表型包括脾肿大和肝肿大。

Related ID：

MALACARDS：GRN063

OMIM：233710

MESH：D006105