TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:174):
Metaphyseal chondrodysplasia, Schmid type

Associated phenotypes (HPO):
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0003021
hpo_term: Metaphyseal cupping
chpo_term: 干骺端内陷
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0006431
hpo_term: Proximal femoral metaphyseal abnormality
chpo_term: 股骨近端干骺端异常
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0025369
hpo_term: Thick growth plates
chpo_term: 生长板增厚
id: HP:0030299
hpo_term: Distal femoral metaphyseal abnormality
chpo_term: 股骨远侧干骺端异常
id: HP:0000907
hpo_term: Anterior rib cupping
chpo_term: 杯状前肋
id: HP:0001248
hpo_term: Short tubular bones of the hand
chpo_term: 手管状骨缩短
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003411
hpo_term: Proximal femoral metaphyseal irregularity
chpo_term: 股骨近端干骺端不规则
id: HP:0005028
hpo_term: Widened proximal tibial metaphyses
chpo_term: 胫骨近端干骺端增宽
id: HP:0005923
hpo_term: Abnormal hand metaphysis morphology
chpo_term: 手骨干骺端形态异常
id: HP:0006028
hpo_term: Metaphyseal cupping of metacarpals
chpo_term: 掌骨杯状干骺端
id: HP:0006208
hpo_term: Metaphyseal cupping of proximal phalanges
chpo_term: 近节指骨杯状干骺端
id: HP:0006634
hpo_term: Osteosclerosis of ribs
chpo_term: 肋骨硬化
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0009852
hpo_term: Broad proximal phalanges of the hand
chpo_term: 近节指骨变宽
id: HP:0045079
hpo_term: Distal femoral metaphyseal irregularity
chpo_term: 股骨远端干骺端不规则
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0003301
hpo_term: Irregular vertebral endplates
chpo_term: 椎体终板不规则
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0004019
hpo_term: Radial metaphyseal irregularity
chpo_term: 桡骨干骺端不规则
id: HP:0004042
hpo_term: Ulnar metaphyseal irregularity
chpo_term: 尺骨干骺端不规则
Disease (ORPHA:173):
Cholera

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001941
hpo_term: Acidosis
chpo_term: 酸中毒
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0003111
hpo_term: Abnormal blood ion concentration
chpo_term: 离子稳态平衡异常
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0011036
hpo_term: Abnormality of renal excretion
chpo_term: 肾排泄异常
id: HP:0011037
hpo_term: Decreased urine output
chpo_term: 少尿
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0002883
hpo_term: Hyperventilation
chpo_term: 过度通气
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0007185
hpo_term: Loss of consciousness
chpo_term: 意识丧失
id: HP:0007517
hpo_term: Palmoplantar cutis laxa
chpo_term: 掌跖皮肤松弛
id: HP:0031274
hpo_term: Hypovolemic shock
chpo_term: 血量减少性休克
id: HP:0032155
hpo_term: Abdominal cramps
chpo_term: 腹部绞痛
id: HP:0032448
hpo_term: Achlorhydria
chpo_term: 胃酸缺乏症
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0011951
hpo_term: Aspiration pneumonia
chpo_term: 吸入性肺炎
Disease (ORPHA:254478):
LP pemphigoides
Lichen planus pemphigoides

Associated phenotypes (HPO):
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0007535
hpo_term: Hypopigmented streaks
chpo_term: 色素减退纹
id: HP:0100725
hpo_term: Lichenification
chpo_term: 苔藓样变
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0011830
hpo_term: Abnormal oral mucosa morphology
chpo_term: 口腔黏膜形态异常
id: HP:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
Disease (ORPHA:170):
Woolly hair
Hereditary wooly hair syndrome
Hereditary woolly hair syndrome
Familial wooly hair syndrome
Wooly hair
Familial woolly hair syndrome

Associated phenotypes (HPO):
id: HP:0000479
hpo_term: Abnormal retinal morphology
chpo_term: 视网膜形态异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000615
hpo_term: Abnormal pupil morphology
chpo_term: 瞳孔形态异常
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002217
hpo_term: Slow-growing hair
chpo_term: 毛发生长缓慢
id: HP:0002224
hpo_term: Woolly hair
chpo_term: 羊毛状发
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:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0010719
hpo_term: Abnormality of hair texture
chpo_term: 发质异常
Disease (ORPHA:324422):
Congenital disorder of glycosylation type Is
CDG1S
Congenital disorder of glycosylation type 1s
ALG13-CDG
CDG-Is
CDG syndrome type Is

Associated phenotypes (HPO):
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0012443
hpo_term: Abnormality of brain morphology
chpo_term: 脑形态学异常
id: HP:0030047
hpo_term: Abnormal lateral ventricle morphology
chpo_term: 侧脑室形态异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:172):
Progressive familial intrahepatic cholestasis
PFIC

Associated phenotypes (HPO):
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001872
hpo_term: Abnormality of thrombocytes
chpo_term: 血小板异常
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:294975):
Isolated congenital humero-radio-ulnar intercalary transverse meromelia
Isolated absence of upper arm and forearm with hand present

Associated phenotypes (HPO):
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0009813
hpo_term: Upper limb phocomelia
chpo_term: 上肢短肢畸形
id: HP:0003826
hpo_term: Stillbirth
chpo_term: 死胎
id: HP:0033127
hpo_term: Abnormality of the musculoskeletal system
chpo_term: 肌肉骨骼系统异常
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000464
hpo_term: Abnormality of the neck
chpo_term: 颈部异常
id: HP:0011603
hpo_term: Congenital malformation of the great arteries
chpo_term: 先天性大动脉畸形
id: HP:0002088
hpo_term: Abnormal lung morphology
chpo_term: 肺部形态异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0003272
hpo_term: Abnormal hip bone morphology
chpo_term: 髋骨形态异常
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000987
hpo_term: Atypical scarring of skin
chpo_term: 非典型皮肤瘢痕
Disease (ORPHA:93930):
Bladder exstrophy
Classic exstrophy of the bladder
Classic bladder exstrophy

Associated phenotypes (HPO):
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000039
hpo_term: Epispadias
chpo_term: 尿道上裂
id: HP:0000056
hpo_term: Abnormality of the clitoris
chpo_term: 阴蒂异常
id: HP:0000069
hpo_term: Abnormality of the ureter
chpo_term: 输尿管异常
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0002836
hpo_term: Bladder exstrophy
chpo_term: 膀胱外翻
id: HP:0004378
hpo_term: Abnormality of the anus
chpo_term: 肛门异常
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
Disease (ORPHA:313772):
Autosomal recessive spastic ataxia type 5
SPAX5
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome

Associated phenotypes (HPO):
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002464
hpo_term: Spastic dysarthria
chpo_term: 痉挛性构音障碍
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0007108
hpo_term: Demyelinating peripheral neuropathy
chpo_term: 脱髓鞘性周围神经病
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0008316
hpo_term: Abnormal mitochondria in muscle tissue
chpo_term: 肌肉组织中线粒体异常
Disease (ORPHA:79644):
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency

Associated phenotypes (HPO):
id: HP:0000825
hpo_term: Hyperinsulinemic hypoglycemia
chpo_term: 高胰岛素性低血糖
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001988
hpo_term: Recurrent hypoglycemia
chpo_term: 反复发作性低血糖
id: HP:0030796
hpo_term: Increased C-peptide level
chpo_term: C-肽水平增高
id: HP:0031080
hpo_term: Abnormal response to glucagon stimulation test
chpo_term: 胰高血糖素刺激试验反应异常
id: HP:0000845
hpo_term: Elevated circulating growth hormone concentration
chpo_term: 生长激素水平升高
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0031223
hpo_term: Focal pancreatic islet hyperplasia
chpo_term: 局灶性胰岛增生
id: HP:0031224
hpo_term: Diffuse pancreatic islet hyperplasia
chpo_term: 弥漫性胰岛增生
id: HP:0040299
hpo_term: Decreased circulating free fatty acid level
chpo_term: 循环游离脂肪酸水平降低
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:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0003118
hpo_term: Increased circulating cortisol level
chpo_term: 血皮质醇水平增加
id: HP:0008194
hpo_term: Multiple pancreatic beta-cell adenomas
chpo_term: 多发胰腺β细胞腺瘤
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
Disease (ORPHA:169):
Ringed hair disease
Pili annulati

Associated phenotypes (HPO):
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0010720
hpo_term: Abnormal hair pattern
chpo_term: 毛发分布异常
Disease (ORPHA:168):
Loose anagen syndrome

Associated phenotypes (HPO):
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0010721
hpo_term: Abnormal hair whorl
chpo_term: 毛发异常旋涡式生长
Disease (ORPHA:163):
Hereditary hyperferritinemia-cataract syndrome
Hereditary hyperferritinemia with cataracts
Hereditary hyperferritinemia-cataract disease
HHCS

Associated phenotypes (HPO):
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
Disease (ORPHA:280333):
LGMD type 2P
Limb-girdle muscular dystrophy type 2P
Alpha-dystroglycan-related LGMD R16
Autosomal recessive limb-girdle muscular dystrophy type 2P
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
LGMD2P

Associated phenotypes (HPO):
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0006785
hpo_term: Limb-girdle muscular dystrophy
chpo_term: 肢带型肌营养不良症
id: HP:0030099
hpo_term: Reduced muscle fiber alpha dystroglycan
chpo_term: 肌纤维α-肌营养不良蛋白聚糖减少
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0003707
hpo_term: Calf muscle pseudohypertrophy
chpo_term: 小腿肌肉假性肥大
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
Disease (ORPHA:93928):
Isolated epispadias

Associated phenotypes (HPO):
id: HP:0030911
hpo_term: Bifid clitoris
chpo_term: 阴蒂分叉
id: HP:0000039
hpo_term: Epispadias
chpo_term: 尿道上裂
id: HP:0100627
hpo_term: Displacement of the urethral meatus
chpo_term: 尿道外口异位
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常
Disease (ORPHA:324410):
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

Associated phenotypes (HPO):
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0001172
hpo_term: Abnormal thumb morphology
chpo_term: 拇指形态异常
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:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0005781
hpo_term: Contractures of the large joints
chpo_term: 大关节挛缩
id: HP:0006705
hpo_term: Abnormal atrioventricular valve morphology
chpo_term: 房室瓣形态异常
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0004749
hpo_term: Atrial flutter
chpo_term: 心房扑动
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010808
hpo_term: Protruding tongue
chpo_term: 舌头过长
Disease (ORPHA:93929):
Cloacal exstrophy
OEIS complex
Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome

Associated phenotypes (HPO):
id: HP:0000056
hpo_term: Abnormality of the clitoris
chpo_term: 阴蒂异常
id: HP:0000070
hpo_term: Ureterocele
chpo_term: 输尿管囊肿
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0000074
hpo_term: Ureteropelvic junction obstruction
chpo_term: 肾盂输尿管连接部梗阻
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0002836
hpo_term: Bladder exstrophy
chpo_term: 膀胱外翻
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0002991
hpo_term: Abnormality of fibula morphology
chpo_term: 腓骨形态异常
id: HP:0002992
hpo_term: Abnormality of tibia morphology
chpo_term: 胫骨形态异常
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0010475
hpo_term: Cloacal exstrophy
chpo_term: 泄殖腔外翻
id: HP:0011027
hpo_term: Abnormal fallopian tube morphology
chpo_term: 输卵管形态异常
id: HP:0011301
hpo_term: Absent foot
chpo_term: 缺足
id: HP:0100668
hpo_term: Intestinal duplication
chpo_term: 肠重复
Disease (ORPHA:228190):
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome

Associated phenotypes (HPO):
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0005295
hpo_term: Pseudocoarctation of the aorta
chpo_term: 主动脉假性缩窄
id: HP:0005922
hpo_term: Abnormal hand morphology
chpo_term: 手形态异常
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0010047
hpo_term: Short 5th metacarpal
chpo_term: 第五掌骨短小
id: HP:0011927
hpo_term: Short digit
chpo_term: 短指（趾）畸形
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
Disease (ORPHA:160):
Castleman disease
Angiofollicular ganglionic hyperplasia
Angiofollicular lymph hyperplasia

Associated phenotypes (HPO):
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002729
hpo_term: Follicular hyperplasia
chpo_term: 淋巴滤泡增生
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0025142
hpo_term: Constitutional symptom
chpo_term: 全身性症状
id: HP:0030783
hpo_term: Increased circulating interleukin 6 concentration
chpo_term: 循环白细胞介素6水平升高
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0008940
hpo_term: Generalized lymphadenopathy
chpo_term: 全身性淋巴结肿大
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0025066
hpo_term: Decreased mean corpuscular volume
chpo_term: 红细胞平均体积减低
id: HP:0030157
hpo_term: Flank pain
chpo_term: 侧腹疼痛
id: HP:0031500
hpo_term: Abdominal mass
chpo_term: 腹部肿块
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001723
hpo_term: Restrictive cardiomyopathy
chpo_term: 限制型心肌病
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0005214
hpo_term: Intestinal obstruction
chpo_term: 肠梗阻
id: HP:0006000
hpo_term: Ureteral obstruction
chpo_term: 输尿管梗阻
id: HP:0011974
hpo_term: Myelofibrosis
chpo_term: 骨髓纤维化
id: HP:0012050
hpo_term: Anasarca
chpo_term: 全身水肿
Disease (ORPHA:324416):
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome

Associated phenotypes (HPO):
id: HP:0002438
hpo_term: Cerebellar malformation
chpo_term: 小脑畸形
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0007973
hpo_term: Retinal dysplasia
chpo_term: 视网膜发育不良
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0007260
hpo_term: Type II lissencephaly
chpo_term: Ⅱ型无脑回畸形
id: HP:0007700
hpo_term: Ocular anterior segment dysgenesis
chpo_term: 眼球前段发育不全
id: HP:0000078
hpo_term: Abnormality of the genital system
chpo_term: 生殖系统异常
id: HP:0004488
hpo_term: Macrocephaly at birth
chpo_term: 出生时巨头畸形
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0002085
hpo_term: Occipital encephalocele
chpo_term: 枕部脑膨出
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损