TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:99948):
CMT4A
Charcot-Marie-Tooth disease type 4A

Associated phenotypes (HPO):
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0007015
hpo_term: Poor gross motor coordination
chpo_term: 粗大运动协调差
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001604
hpo_term: Vocal cord paresis
chpo_term: 声带不全性麻痹
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0003387
hpo_term: Decreased number of large peripheral myelinated nerve fibers
chpo_term: 大的周围有髓鞘神经纤维数量减少
id: HP:0006064
hpo_term: Limited interphalangeal movement
chpo_term: 指间运动受限
id: HP:0006248
hpo_term: Limited wrist movement
chpo_term: 腕部运动受限
id: HP:0006858
hpo_term: Impaired distal proprioception
chpo_term: 远端本体感觉障碍
id: HP:0006886
hpo_term: Impaired distal vibration sensation
chpo_term: 远端振动觉障碍
id: HP:0006937
hpo_term: Impaired distal tactile sensation
chpo_term: 远端触觉感觉障碍
id: HP:0007267
hpo_term: Chronic axonal neuropathy
chpo_term: 慢性轴索神经病
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0009072
hpo_term: Decreased Achilles reflex
chpo_term: 跟腱反射减弱
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0012391
hpo_term: Hyporeflexia of upper limbs
chpo_term: 上肢反射减弱
id: HP:0030237
hpo_term: Hand muscle weakness
chpo_term: 手肌无力
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003547
hpo_term: Shoulder girdle muscle weakness
chpo_term: 肩胛带肌肉无力
id: HP:0003731
hpo_term: Quadriceps muscle weakness
chpo_term: 股四头肌无力
id: HP:0007108
hpo_term: Demyelinating peripheral neuropathy
chpo_term: 脱髓鞘性周围神经病
id: HP:0008443
hpo_term: Neuropathic spinal arthropathy
chpo_term: 神经性脊柱关节病
id: HP:0008935
hpo_term: Generalized neonatal hypotonia
chpo_term: 全身性新生儿肌张力低下
id: HP:0009109
hpo_term: Denervation of the diaphragm
chpo_term: 膈肌去神经支配
id: HP:0012078
hpo_term: Motor conduction block
chpo_term: 运动传导阻滞
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
Disease (ORPHA:35093):
Isolated sagittal craniosynostosis
Isolated scaphocephaly
Non-syndromic sagittal suture synostosis
Non-syndromic sagittal craniosynostosis

Associated phenotypes (HPO):
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
Disease (ORPHA:99944):
CMT2K
Autosomal dominant Charcot-Marie-Tooth disease type 2K

Associated phenotypes (HPO):
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0009130
hpo_term: Hand muscle atrophy
chpo_term: 手部肌肉萎缩
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
Disease (ORPHA:139507):
Dietary iron overload disease
Bantu siderosis
African iron overload

Associated phenotypes (HPO):
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0002614
hpo_term: Hepatic periportal necrosis
chpo_term: 肝脏门脉周围坏死
id: HP:0006562
hpo_term: Viral hepatitis
chpo_term: 病毒性肝炎
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0012463
hpo_term: Elevated transferrin saturation
chpo_term: 转铁蛋白饱和度升高
id: HP:0012465
hpo_term: Elevated hepatic iron concentration
chpo_term: 肝内铁浓度升高
id: HP:0000078
hpo_term: Abnormality of the genital system
chpo_term: 生殖系统异常
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
id: HP:0001413
hpo_term: Micronodular cirrhosis
chpo_term: 小结节性肝硬化
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003118
hpo_term: Increased circulating cortisol level
chpo_term: 血皮质醇水平增加
id: HP:0011732
hpo_term: Abnormality of adrenal morphology
chpo_term: 肾上腺形态异常
id: HP:0011772
hpo_term: Abnormal thyroid morphology
chpo_term: 甲状腺形态异常
id: HP:0012090
hpo_term: Abnormal pancreas morphology
chpo_term: 胰腺形态异常
id: HP:0012852
hpo_term: Hepatic bridging fibrosis
chpo_term: 肝桥接性纤维化
id: HP:0031035
hpo_term: Chronic infection
chpo_term: 慢性感染
id: HP:0100510
hpo_term: Low levels of vitamin C
chpo_term: 维生素C缺乏症
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
id: HP:0011459
hpo_term: Esophageal carcinoma
chpo_term: 食管癌
Disease (ORPHA:99947):
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
CMT2A2

Associated phenotypes (HPO):
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0003444
hpo_term: EMG: chronic denervation signs
chpo_term: 肌电图:慢性失神经支配的征象
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002378
hpo_term: Hand tremor
chpo_term: 手部震颤
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0002522
hpo_term: Areflexia of lower limbs
chpo_term: 下肢反射消失
id: HP:0002601
hpo_term: Paresis of extensor muscles of the big toe
chpo_term: 拇趾伸肌麻痹
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0006460
hpo_term: Increased laxity of ankles
chpo_term: 脚踝松弛度增加
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0010829
hpo_term: Impaired temperature sensation
chpo_term: 温度觉障碍
id: HP:0025238
hpo_term: Foot pain
chpo_term: 足痛
id: HP:0030237
hpo_term: Hand muscle weakness
chpo_term: 手肌无力
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0002143
hpo_term: Abnormality of the spinal cord
chpo_term: 脊髓异常
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0003731
hpo_term: Quadriceps muscle weakness
chpo_term: 股四头肌无力
id: HP:0006844
hpo_term: Absent patellar reflexes
chpo_term: 膝反射消失
id: HP:0006915
hpo_term: Inability to walk by childhood/adolescence
chpo_term: 青少年行走不能
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0012452
hpo_term: Restless legs
chpo_term: 不宁腿
id: HP:0012513
hpo_term: Upper limb pain
chpo_term: 上肢疼痛
id: HP:0031108
hpo_term: Triceps weakness
chpo_term: 肱三头肌无力
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
Disease (ORPHA:3312):
Thalidomide embryopathy
Fetal thalidomide syndrome

Associated phenotypes (HPO):
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0002991
hpo_term: Abnormality of fibula morphology
chpo_term: 腓骨形态异常
id: HP:0004059
hpo_term: Radial club hand
chpo_term: 桡偏畸形手
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005613
hpo_term: Aplasia/hypoplasia of the femur
chpo_term: 股骨发育不良/发育不全
id: HP:0006495
hpo_term: Aplasia/Hypoplasia of the ulna
chpo_term: 尺骨发育不良/发育不全
id: HP:0006507
hpo_term: Aplasia/hypoplasia of the humerus
chpo_term: 肱骨发育不良/发育不全
id: HP:0009601
hpo_term: Aplasia/Hypoplasia of the thumb
chpo_term: 拇指发育不全或发育不良
id: HP:0009813
hpo_term: Upper limb phocomelia
chpo_term: 上肢短肢畸形
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000356
hpo_term: Abnormality of the outer ear
chpo_term: 外耳异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0002257
hpo_term: Chronic rhinitis
chpo_term: 慢性鼻炎
id: HP:0009892
hpo_term: Anotia
chpo_term: 无耳畸形
Disease (ORPHA:99940):
CMT2F
Autosomal dominant Charcot-Marie-Tooth disease type 2F

Associated phenotypes (HPO):
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0003444
hpo_term: EMG: chronic denervation signs
chpo_term: 肌电图:慢性失神经支配的征象
id: HP:0003445
hpo_term: EMG: neuropathic changes
chpo_term: 肌电图：神经源性变化
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0007289
hpo_term: Limb fasciculations
chpo_term: 肢体肌束颤动
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0009129
hpo_term: Upper limb amyotrophy
chpo_term: 上肢肌萎缩
id: HP:0010829
hpo_term: Impaired temperature sensation
chpo_term: 温度觉障碍
Disease (ORPHA:3314):
Thiemann disease, familial form
Aseptic necrosis of phalangeal epiphyses
Osteochondrosis of phalangeal epiphyses

Associated phenotypes (HPO):
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
Disease (ORPHA:35099):
Non-syndromic bicoronal craniosynostosis
Non-syndromic bilateral coronal suture synostosis
Isolated bicoronal craniosynostosis
Isolated brachycephaly

Associated phenotypes (HPO):
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0009701
hpo_term: Metacarpal synostosis
chpo_term: 掌骨骨性融合
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
Disease (ORPHA:3305):
Tetraploidy syndrome

Associated phenotypes (HPO):
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0002916
hpo_term: Abnormality of chromosome segregation
chpo_term: 染色体分离异常
id: HP:0004059
hpo_term: Radial club hand
chpo_term: 桡偏畸形手
id: HP:0004422
hpo_term: Biparietal narrowing
chpo_term: 双侧顶骨部收窄
id: HP:0006703
hpo_term: Aplasia/Hypoplasia of the lungs
chpo_term: 肺发育缺陷/不全
id: HP:0008056
hpo_term: Aplasia/Hypoplasia affecting the eye
chpo_term: 眼睛发育缺陷/不全
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0010515
hpo_term: Aplasia/Hypoplasia of the thymus
chpo_term: 胸腺未发育/发育不全
id: HP:0100720
hpo_term: Hypoplasia of the ear cartilage
chpo_term: 耳软骨发育不全
Disease (ORPHA:91138):
Cryoglobulinemic vasculitis
Essential cryoglobulinemia
Essential mixed cryoglobulinemia
Primary cryoglobulinemia
Mixed cryoglobulinemia

Associated phenotypes (HPO):
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
id: HP:0012224
hpo_term: Circulating immune complexes
chpo_term: 循环免疫复合物
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
id: HP:0100778
hpo_term: Cryoglobulinemia
chpo_term: 冷球蛋白血症
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001392
hpo_term: Abnormality of the liver
chpo_term: 肝脏异常
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0005244
hpo_term: Gastrointestinal infarctions
chpo_term: 胃肠道梗塞
id: HP:0006562
hpo_term: Viral hepatitis
chpo_term: 病毒性肝炎
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0009831
hpo_term: Mononeuropathy
chpo_term: 单神经病
id: HP:0100758
hpo_term: Gangrene
chpo_term: 坏疽
id: HP:0100820
hpo_term: Glomerulopathy
chpo_term: 肾小球病
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
Disease (ORPHA:250977):
ATIC deficiency
AICA-ribosiduria due to ATIC deficiency
5-amino-4-imidazole carboxamide ribosiduria
AICA-ribosiduria
AICAR transformylase/IMP cyclohydrolase deficiency

Associated phenotypes (HPO):
id: HP:0000063
hpo_term: Fused labia minora
chpo_term: 小阴唇融合
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0007875
hpo_term: Congenital blindness
chpo_term: 先天性失明
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
Disease (ORPHA:71528):
PCI deficiency
Obesity due to prohormone convertase I deficiency

Associated phenotypes (HPO):
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0009126
hpo_term: Increased adipose tissue
chpo_term: 脂肪组织增多
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0002297
hpo_term: Red hair
chpo_term: 红发
id: HP:0008915
hpo_term: Childhood-onset truncal obesity
chpo_term: 儿童期发病的躯干肥胖
id: HP:0011734
hpo_term: Central adrenal insufficiency
chpo_term: 中枢性肾上腺功能不全
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002173
hpo_term: Hypoglycemic seizures
chpo_term: 低血糖发作
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0008213
hpo_term: Gonadotropin deficiency
chpo_term: 促性腺激素缺乏症
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
Disease (ORPHA:71529):
Obesity due to melanocortin 4 receptor deficiency
MC4R deficiency

Associated phenotypes (HPO):
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0009126
hpo_term: Increased adipose tissue
chpo_term: 脂肪组织增多
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0008915
hpo_term: Childhood-onset truncal obesity
chpo_term: 儿童期发病的躯干肥胖
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
Disease (ORPHA:3306):
Non-distal tetrasomy 15q
Isodicentric chromosome 15 syndrome
Inverted duplicated chromosome 15 syndrome
Inv dup (15) syndrome
Duplication/inversion 15q11
Non-telomeric tetrasomy 15q
idic (15) syndrome

Associated phenotypes (HPO):
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
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:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0006863
hpo_term: Severe expressive language delay
chpo_term: 严重的表达性语言发育延迟
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0011352
hpo_term: Severe receptive language delay
chpo_term: 严重的理解性语言发育延迟
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012169
hpo_term: Self-biting
chpo_term: 自咬
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0012443
hpo_term: Abnormality of brain morphology
chpo_term: 脑形态学异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000133
hpo_term: Gonadal dysgenesis
chpo_term: 性腺发育不全
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
Disease (ORPHA:3307):
Isochromosome 18p
Tetrasomy 18p syndrome

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
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:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0002571
hpo_term: Achalasia
chpo_term: 贲门失弛缓症
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻