Disease (ORPHA:264580):
Glycogenosis due to liver phosphorylase kinase deficiency
GSD type IXc
Glycogen storage disease type 9A
Glycogen storage disease type 9C
Glycogen storage disease type IXc
GSD type IXa
Glycogenosis type IXc
XLG
GSD type 9C
Glycogenosis type 9C
Glycogen storage disease due to liver phosphorylase kinase deficiency
Glycogenosis type IXa
Glycogenosis type 9A
GSD type 9A
GSD due to liver phosphorylase kinase deficiency
Glycogen storage disease type IXa

Associated phenotypes (HPO):
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0030272
hpo_term: Abnormal erythrocyte enzyme level
chpo_term: 红细胞酶水平异常
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001946
hpo_term: Ketosis
chpo_term: 酮症
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0003162
hpo_term: Fasting hypoglycemia
chpo_term: 空腹低血糖
id: HP:0410175
hpo_term: Hyperketonemia
chpo_term: 高酮血症
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000858
hpo_term: Irregular menstruation
chpo_term: 月经不调
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
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:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002913
hpo_term: Myoglobinuria
chpo_term: 肌红蛋白尿
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003323
hpo_term: Progressive muscle weakness
chpo_term: 进行性肌无力
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0030232
hpo_term: Increased sarcoplasmic glycogen
chpo_term: 肌浆糖原增加
id: HP:0100607
hpo_term: Dysmenorrhea
chpo_term: 痛经
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001947
hpo_term: Renal tubular acidosis
chpo_term: 肾小管性酸中毒
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0004324
hpo_term: Increased body weight
chpo_term: 体重增加
id: HP:0006580
hpo_term: Portal fibrosis
chpo_term: 汇管区纤维化
id: HP:0012028
hpo_term: Hepatocellular adenoma
chpo_term: 肝细胞腺瘤