Disease (ORPHA:79259):
Glycogen storage disease due to G6P deficiency type Ib
Glycogenosis due to glucose-6-phosphatase transport defect type Ib
G6PT deficiency
GSD due to G6PT deficiency
Glycogenosis due to glucose-6-phosphatase deficiency type 1b
Glycogen storage disease type Ib
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
G6P deficiency type Ib
GSD due to G6P deficiency type 1b
Glycogen storage disease type 1b
GSD type 1 non a
GSD type Ib
G6P translocase deficiency
GSD due to G6P deficiency type Ib
GSD type 1b
Glycogenosis type 1b
GSDIb
Glycogenosis type Ib

Associated phenotypes (HPO):
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001538
hpo_term: Protuberant abdomen
chpo_term: 腹部隆凸
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006568
hpo_term: Increased hepatic glycogen content
chpo_term: 肝糖原含量增高
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000858
hpo_term: Irregular menstruation
chpo_term: 月经不调
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0010974
hpo_term: Abnormal myeloid leukocyte morphology
chpo_term: 髓系白细胞形态异常
id: HP:0100279
hpo_term: Ulcerative colitis
chpo_term: 溃疡性结肠炎
id: HP:0100512
hpo_term: Low levels of vitamin D
chpo_term: 维生素D缺乏症
id: HP:0100646
hpo_term: Thyroiditis
chpo_term: 甲状腺炎
id: HP:0410252
hpo_term: Chronic neutropenia
chpo_term: 慢性中性粒细胞减少症
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0000230
hpo_term: Gingivitis
chpo_term: 牙龈炎
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000696
hpo_term: Delayed eruption of permanent teeth
chpo_term: 恒牙萌出延迟
id: HP:0000704
hpo_term: Periodontitis
chpo_term: 牙周炎
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001114
hpo_term: Xanthelasma
chpo_term: 睑黄瘤
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0002173
hpo_term: Hypoglycemic seizures
chpo_term: 低血糖发作
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0004387
hpo_term: Enterocolitis
chpo_term: 小肠结肠炎
id: HP:0005576
hpo_term: Tubulointerstitial fibrosis
chpo_term: 肾小管间质纤维化
id: HP:0011890
hpo_term: Prolonged bleeding following procedure
chpo_term: 术后出血时间延长
id: HP:0012028
hpo_term: Hepatocellular adenoma
chpo_term: 肝细胞腺瘤
id: HP:0012146
hpo_term: Abnormality of von Willebrand factor
chpo_term: 血管性血友病因子异常
id: HP:0030950
hpo_term: Pulmonary venous hypertension
chpo_term: 肺静脉高压
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
id: HP:0001997
hpo_term: Gout
chpo_term: 痛风
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期