TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:123):
Hearing loss-pili torti-hypogonadism syndrome
Björnstad syndrome
Deafness-pili torti-hypogonadism syndrome

Associated phenotypes (HPO):
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0003777
hpo_term: Pili torti
chpo_term: 卷发
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
id: HP:0000035
hpo_term: Abnormal testis morphology
chpo_term: 睾丸形态异常
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
Disease (ORPHA:122):
Hornstein-Knickenberg syndrome
Birt-Hogg-Dubé syndrome

Associated phenotypes (HPO):
id: HP:0001012
hpo_term: Multiple lipomas
chpo_term: 多发性脂肪瘤
id: HP:0002097
hpo_term: Emphysema
chpo_term: 气肿
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
id: HP:0002865
hpo_term: Medullary thyroid carcinoma
chpo_term: 甲状腺髓样癌
id: HP:0002897
hpo_term: Parathyroid adenoma
chpo_term: 甲状旁腺腺瘤
id: HP:0005584
hpo_term: Renal cell carcinoma
chpo_term: 肾细胞癌
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0010609
hpo_term: Skin tags
chpo_term: 皮赘
id: HP:0100632
hpo_term: Pulmonary sequestration
chpo_term: 肺隔离症
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
Disease (ORPHA:45453):
Incessant infant ventricular tachycardia

Associated phenotypes (HPO):
id: HP:0004756
hpo_term: Ventricular tachycardia
chpo_term: 室性心动过速
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0006677
hpo_term: Prolonged QRS complex
chpo_term: QRS波群延长
id: HP:0011710
hpo_term: Bundle branch block
chpo_term: 束支传导阻滞
id: HP:0031595
hpo_term: Abnormal P wave
chpo_term: 异常P波
id: HP:0001557
hpo_term: Prenatal movement abnormality
chpo_term: 产前胎动异常
id: HP:0004755
hpo_term: Supraventricular tachycardia
chpo_term: 室上性心动过速
id: HP:0005152
hpo_term: Histiocytoid cardiomyopathy
chpo_term: 组织细胞样心肌病
id: HP:0009729
hpo_term: Cardiac rhabdomyoma
chpo_term: 心脏横纹肌瘤
id: HP:0001716
hpo_term: Wolff-Parkinson-White syndrome
chpo_term: 预激综合征
id: HP:0025169
hpo_term: Left ventricular systolic dysfunction
chpo_term: 左心室收缩功能障碍
Disease (ORPHA:399180):
Secondary non-traumatic avascular necrosis
Secondary non-traumatic AVN
Secondary non-traumatic osteonecrosis

Associated phenotypes (HPO):
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0030955
hpo_term: Alcoholism
chpo_term: 酗酒
id: HP:0001370
hpo_term: Rheumatoid arthritis
chpo_term: 类风湿关节炎
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0003549
hpo_term: Abnormality of connective tissue
chpo_term: 结缔组织异常
id: HP:0004377
hpo_term: Hematological neoplasm
chpo_term: 血液肿瘤
id: HP:0031520
hpo_term: Groin pain
chpo_term: 腹股沟痛
id: HP:0100724
hpo_term: Hypercoagulability
chpo_term: 高凝状态
Disease (ORPHA:45452):
Idiopathic neonatal atrial flutter

Associated phenotypes (HPO):
id: HP:0003115
hpo_term: Abnormal EKG
chpo_term: 异常心电图
id: HP:0004755
hpo_term: Supraventricular tachycardia
chpo_term: 室上性心动过速
id: HP:0005150
hpo_term: Abnormal atrioventricular conduction
chpo_term: 房室传导异常
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0004763
hpo_term: Paroxysmal supraventricular tachycardia
chpo_term: 阵发性室上性心动过速
id: HP:0005162
hpo_term: Abnormal left ventricular function
chpo_term: 左心室功能异常
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0025074
hpo_term: Abnormal QRS complex
chpo_term: QRS波群异常
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0009800
hpo_term: Maternal diabetes
chpo_term: 母体糖尿病
id: HP:0025116
hpo_term: Fetal distress
chpo_term: 胎儿窘迫
Disease (ORPHA:49804):
Amyloid lichen
Lichen amyloidosis
Lichen amyloidosus

Associated phenotypes (HPO):
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
Disease (ORPHA:45448):
Miyoshi myopathy

Associated phenotypes (HPO):
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003547
hpo_term: Shoulder girdle muscle weakness
chpo_term: 肩胛带肌肉无力
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0003698
hpo_term: Difficulty standing
chpo_term: 站立困难
id: HP:0003731
hpo_term: Quadriceps muscle weakness
chpo_term: 股四头肌无力
id: HP:0003738
hpo_term: Exercise-induced myalgia
chpo_term: 运动诱发的肌肉痛
id: HP:0003749
hpo_term: Pelvic girdle muscle weakness
chpo_term: 骨盆带肌无力
id: HP:0007126
hpo_term: Proximal amyotrophy
chpo_term: 近端肌萎缩
id: HP:0007149
hpo_term: Distal upper limb amyotrophy
chpo_term: 上肢远端肌萎缩
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0008963
hpo_term: Tibialis muscle weakness
chpo_term: 胫骨肌无力
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0011399
hpo_term: Tibialis anterior muscle atrophy
chpo_term: 胫骨前肌萎缩
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0031108
hpo_term: Triceps weakness
chpo_term: 肱三头肌无力
id: HP:0200101
hpo_term: Decreased/absent ankle reflexes
chpo_term: 踝反射降低/缺如
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0008954
hpo_term: Intrinsic hand muscle atrophy
chpo_term: 手部内在肌萎缩
Disease (ORPHA:33475):
Meningococcal meningitis

Associated phenotypes (HPO):
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0011972
hpo_term: Hypoglycorrhachia
chpo_term: 脑脊液糖减低
id: HP:0012229
hpo_term: CSF pleocytosis
chpo_term: 脑脊液细胞增多
id: HP:0025258
hpo_term: Stiff neck
chpo_term: 颈部僵硬
id: HP:0031179
hpo_term: Nuchal rigidity
chpo_term: 颈部僵硬
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002587
hpo_term: Projectile vomiting
chpo_term: 喷射性呕吐
id: HP:0004372
hpo_term: Reduced consciousness/confusion
chpo_term: 意识减弱/意识错乱
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000236
hpo_term: Abnormality of the anterior fontanelle
chpo_term: 前囟异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0032308
hpo_term: Increased circulating procalcitonin concentration
chpo_term: 血液降钙素原水平升高
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0011880
hpo_term: Acute disseminated intravascular coagulation
chpo_term: 急性弥散性血管内凝血
id: HP:0031273
hpo_term: Shock
chpo_term: 休克
Disease (ORPHA:119):
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
Limb-girdle muscular dystrophy type 2E
Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
Beta-sarcoglycanopathy
LGMD type 2E
LGMD2E
Autosomal recessive limb-girdle muscular dystrophy type 2E
Beta-sarcoglycan-related LGMD R4
LGMD due to beta-sarcoglycan deficiency

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0003749
hpo_term: Pelvic girdle muscle weakness
chpo_term: 骨盆带肌无力
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0002913
hpo_term: Myoglobinuria
chpo_term: 肌红蛋白尿
Disease (ORPHA:115):
Beals syndrome
Beals-Hecht syndrome
Distal arthrogryposis type 9
Congenital contractural arachnodactyly
CCA syndrome

Associated phenotypes (HPO):
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001533
hpo_term: Slender build
chpo_term: 修长的身材
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002803
hpo_term: Congenital contracture
chpo_term: 先天性挛缩
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0003011
hpo_term: Abnormality of the musculature
chpo_term: 肌肉组织异常
id: HP:0008453
hpo_term: Congenital kyphoscoliosis
chpo_term: 先天性脊柱后侧凸畸形
id: HP:0008544
hpo_term: Abnormally folded helix
chpo_term: 耳轮卷曲异常
id: HP:0009901
hpo_term: Crumpled ear
chpo_term: 皱耳
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0002247
hpo_term: Duodenal atresia
chpo_term: 十二指肠闭锁
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:251393):
JEB-nH loc
Localized junctional epidermolysis bullosa
Localized JEB
Junctional epidermolysis bullosa, non-Herlitz localized type

Associated phenotypes (HPO):
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0002215
hpo_term: Sparse axillary hair
chpo_term: 腋毛稀疏
id: HP:0002225
hpo_term: Sparse pubic hair
chpo_term: 阴毛稀疏
id: HP:0004529
hpo_term: Atrophic, patchy alopecia
chpo_term: 萎缩性斑片状脱发
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0009722
hpo_term: Dental enamel pits
chpo_term: 牙釉质凹陷
id: HP:0011073
hpo_term: Abnormality of dental color
chpo_term: 牙齿颜色异常
id: HP:0031045
hpo_term: Acral blistering
chpo_term: 肢端水泡
id: HP:0032156
hpo_term: Skin detachment
chpo_term: 皮肤脱落
id: HP:0001057
hpo_term: Aplasia cutis congenita
chpo_term: 先天性表皮发育不全
id: HP:0001810
hpo_term: Dystrophic toenail
chpo_term: 趾甲营养不良
id: HP:0004552
hpo_term: Scarring alopecia of scalp
chpo_term: 头皮瘢痕性脱发
id: HP:0008391
hpo_term: Dystrophic fingernails
chpo_term: 指甲营养不良
id: HP:0000987
hpo_term: Atypical scarring of skin
chpo_term: 非典型皮肤瘢痕
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0003121
hpo_term: Limb joint contracture
chpo_term: 肢体关节挛缩
id: HP:0004057
hpo_term: Mitten deformity
chpo_term: 连指手套状并指
Disease (ORPHA:118):
Beta-mannosidase deficiency
Beta-mannosidosis

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0005247
hpo_term: Hypoplasia of the abdominal wall musculature
chpo_term: 腹壁肌肉发育不良
Disease (ORPHA:280384):
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
IDMDC

Associated phenotypes (HPO):
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0003121
hpo_term: Limb joint contracture
chpo_term: 肢体关节挛缩
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002378
hpo_term: Hand tremor
chpo_term: 手部震颤
id: HP:0007350
hpo_term: Hyperreflexia in upper limbs
chpo_term: 上肢反射亢进
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0100712
hpo_term: Abnormal lumbar spine morphology
chpo_term: 腰椎形态异常
Disease (ORPHA:208513):
Spinocerebellar ataxia type 29
Congenital nonprogressive spinocerebellar ataxia
SCA29

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0000570
hpo_term: Abnormal saccadic eye movements
chpo_term: 眼球扫视运动异常
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0012434
hpo_term: Delayed social development
chpo_term: 社交发育迟缓
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0025405
hpo_term: Visual fixation instability
chpo_term: 固视不稳定
Disease (ORPHA:251383):
CK syndrome
X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Associated phenotypes (HPO):
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001533
hpo_term: Slender build
chpo_term: 修长的身材
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002538
hpo_term: Abnormal cerebral cortex morphology
chpo_term: 大脑皮层形态异常
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0007874
hpo_term: Almond-shaped palpebral fissure
chpo_term: 杏仁状睑裂
id: HP:0010511
hpo_term: Long toe
chpo_term: 长脚趾
id: HP:0025406
hpo_term: Asthenia
chpo_term: 虚弱
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0003107
hpo_term: Abnormal circulating cholesterol concentration
chpo_term: 胆固醇代谢异常
Disease (ORPHA:251380):
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome

Associated phenotypes (HPO):
id: HP:0011904
hpo_term: Persistence of hemoglobin F
chpo_term: 胎儿血红蛋白F持续存在
id: HP:0045047
hpo_term: HbS hemoglobin
chpo_term: 血红蛋白S
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001746
hpo_term: Asplenia
chpo_term: 无脾
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0004840
hpo_term: Hypochromic microcytic anemia
chpo_term: 低色素性小红细胞性贫血
id: HP:0008346
hpo_term: Increased red cell sickling tendency
chpo_term: 镰状红细胞增加倾向
id: HP:0032169
hpo_term: Severe infection
chpo_term: 重度感染
id: HP:0034336
hpo_term: Splenic infarction
chpo_term: 脾梗死
Disease (ORPHA:280397):
Familial Alzheimer-like prion disease

Associated phenotypes (HPO):
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002549
hpo_term: Deficit in phonologic short-term memory
chpo_term: 语音短时记忆缺陷
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0011458
hpo_term: Abdominal symptom
chpo_term: 腹部症状
id: HP:0030223
hpo_term: Perseveration
chpo_term: 持续症现象
id: HP:0040264
hpo_term: Jaw pain
chpo_term: 下颌疼痛
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:89844):
Lissencephaly syndrome, Norman-Roberts type
Microlissencephaly type A

Associated phenotypes (HPO):
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0006818
hpo_term: 4-layered lissencephaly
chpo_term: 4层无脑回畸形
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0045028
hpo_term: Microlissencephaly
chpo_term: 小头畸形-无脑回畸形
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000350
hpo_term: Small forehead
chpo_term: 小额头
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002683
hpo_term: Abnormal calvaria morphology
chpo_term: 颅骨形态异常
id: HP:0003808
hpo_term: Abnormal muscle tone
chpo_term: 肌张力异常
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012736
hpo_term: Profound global developmental delay
chpo_term: 严重的全脑发育迟缓
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000479
hpo_term: Abnormal retinal morphology
chpo_term: 视网膜形态异常
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0006270
hpo_term: Hypoplastic spleen
chpo_term: 脾脏发育不全