Disease (ORPHA:231214):
Cooley anemia
Mediterranean anemia
Beta-thalassemia major

Associated phenotypes (HPO):
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0004823
hpo_term: Anisopoikilocytosis
chpo_term: 异形红细胞增多症
id: HP:0004840
hpo_term: Hypochromic microcytic anemia
chpo_term: 低色素性小红细胞性贫血
id: HP:0010972
hpo_term: Anemia of inadequate production
chpo_term: 红细胞 生成不足性贫血
id: HP:0011904
hpo_term: Persistence of hemoglobin F
chpo_term: 胎儿血红蛋白F持续存在
id: HP:0011905
hpo_term: Reduced hemoglobin A
chpo_term: 血红蛋白A减低
id: HP:0025066
hpo_term: Decreased mean corpuscular volume
chpo_term: 红细胞平均体积减低
id: HP:0025547
hpo_term: Decreased mean corpuscular hemoglobin concentration
chpo_term: 红细胞平均血红蛋白量减低
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001971
hpo_term: Hypersplenism
chpo_term: 脾功能亢进
id: HP:0001978
hpo_term: Extramedullary hematopoiesis
chpo_term: 髓外造血
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0009004
hpo_term: Hypoplasia of the musculature
chpo_term: 肌肉组织发育不全
id: HP:0011031
hpo_term: Abnormality of iron homeostasis
chpo_term: 铁紊乱
id: HP:0011842
hpo_term: Abnormal skeletal morphology
chpo_term: 骨骼形态异常
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001722
hpo_term: High-output congestive heart failure
chpo_term: 高输出充血性心力衰竭
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010620
hpo_term: Malar prominence
chpo_term: 颧骨突出
id: HP:0031035
hpo_term: Chronic infection
chpo_term: 慢性感染
id: HP:0040075
hpo_term: Hypopituitarism
chpo_term: 垂体功能减退
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0430028
hpo_term: Hyperplasia of the maxilla
chpo_term: 上颌骨增生
id: HP:0000846
hpo_term: Adrenal insufficiency
chpo_term: 肾上腺功能不全
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常