TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:1231):
Barber-Say syndrome
Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome

Associated phenotypes (HPO):
id: HP:0000049
hpo_term: Shawl scrotum
chpo_term: 披肩状阴囊
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002557
hpo_term: Hypoplastic nipples
chpo_term: 乳头发育不良
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0011224
hpo_term: Ablepharon
chpo_term: 无睑畸形
id: HP:0100783
hpo_term: Breast aplasia
chpo_term: 乳房发育不全
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
id: HP:0200102
hpo_term: Sparse or absent eyelashes
chpo_term: 睫毛稀疏/无睫毛
Disease (ORPHA:306617):
SPG1
X-linked complicated spastic paraplegia type 1

Associated phenotypes (HPO):
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002493
hpo_term: Upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍/功能异常
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
Disease (ORPHA:2560):
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome

Associated phenotypes (HPO):
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000182
hpo_term: Movement abnormality of the tongue
chpo_term: 舌头运动异常
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
id: HP:0001167
hpo_term: Abnormality of finger
chpo_term: 手指异常
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0007108
hpo_term: Demyelinating peripheral neuropathy
chpo_term: 脱髓鞘性周围神经病
id: HP:0007209
hpo_term: Facial paralysis
chpo_term: 面瘫
id: HP:0008000
hpo_term: Decreased corneal reflex
chpo_term: 角膜反射减退
id: HP:0045037
hpo_term: Abnormality of jaw muscles
chpo_term: 下颌肌肉异常
Disease (ORPHA:2563):
Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome
Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome
MOMO syndrome

Associated phenotypes (HPO):
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000215
hpo_term: Thick upper lip vermilion
chpo_term: 厚上红唇
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:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000625
hpo_term: Eyelid coloboma
chpo_term: 眼睑缺损
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000679
hpo_term: Taurodontia
chpo_term: 牙髓腔增大
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000879
hpo_term: Short sternum
chpo_term: 短胸骨
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
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:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0001795
hpo_term: Hyperconvex nail
chpo_term: 甲异常凸起
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007633
hpo_term: Bilateral microphthalmos
chpo_term: 双侧小眼畸形
id: HP:0008577
hpo_term: Underfolded helix
chpo_term: 耳轮卷曲减少
id: HP:0011849
hpo_term: Abnormal bone ossification
chpo_term: 骨化异常
id: HP:0012810
hpo_term: Wide nasal base
chpo_term: 宽鼻底
id: HP:0025112
hpo_term: Sound sensitivity
chpo_term: 声敏感
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0006585
hpo_term: Congenital pseudoarthrosis of the clavicle
chpo_term: 先天性锁骨假关节
id: HP:0000820
hpo_term: Abnormality of the thyroid gland
chpo_term: 甲状腺异常
Disease (ORPHA:2564):
Tetramelic monodactyly
Sommer-Hines syndrome

Associated phenotypes (HPO):
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0012165
hpo_term: Oligodactyly
chpo_term: 少指（趾）畸形
Disease (ORPHA:1237):
Beemer-Ertbruggen syndrome
Lethal hydrocephalus-cardiac malformation-dense bones syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001334
hpo_term: Communicating hydrocephalus
chpo_term: 交通性脑积水
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
Disease (ORPHA:664372):
Soft and hard cleft palate
Isolated cleft of the soft and hard palate
Combined form of soft and hard cleft palate

Associated phenotypes (HPO):
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (ORPHA:401911):
AXIN2-related attenuated familial adenomatous polyposis
AXIN2-related attenuated familial polyposis coli
AXIN2-related attenuated FAP
AXIN2-related polyposis
AXIN2-related AFAP

Associated phenotypes (HPO):
id: HP:0005227
hpo_term: Adenomatous colonic polyposis
chpo_term: 腺瘤性结肠息肉病
id: HP:0200063
hpo_term: Colorectal polyposis
chpo_term: 结直肠息肉病
id: HP:0003003
hpo_term: Colon cancer
chpo_term: 结肠癌
id: HP:0100743
hpo_term: Neoplasm of the rectum
chpo_term: 直肠肿瘤
id: HP:0000968
hpo_term: Ectodermal dysplasia
chpo_term: 外胚层发育不良
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:3000050
hpo_term: Abnormal odontoid tissue morphology
chpo_term: 齿突组织形态异常
Disease (ORPHA:83619):
Macrostomia-preauricular tags-external ophthalmoplegia syndrome

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0011272
hpo_term: Underdeveloped tragus
chpo_term: 耳屏发育不良
id: HP:0011338
hpo_term: Abnormality of mouth shape
chpo_term: 嘴形异常
Disease (ORPHA:36426):
Dermatostomatitis, Stevens Johnson type
Stevens-Johnson syndrome

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000621
hpo_term: Entropion
chpo_term: 眼睑内翻
id: HP:0000795
hpo_term: Abnormality of the urethra
chpo_term: 尿道异常
id: HP:0001637
hpo_term: Abnormal myocardium morphology
chpo_term: 心肌形态异常
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001874
hpo_term: Abnormality of neutrophils
chpo_term: 中性粒细胞异常
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001960
hpo_term: Hypokalemic metabolic alkalosis
chpo_term: 低钾性代谢性碱中毒
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002043
hpo_term: Esophageal stricture
chpo_term: 食管狭窄
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002103
hpo_term: Abnormal pleura morphology
chpo_term: 胸膜异常
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003781
hpo_term: Excessive salivation
chpo_term: 唾液分泌过多
id: HP:0006554
hpo_term: Acute hepatic failure
chpo_term: 急性肝功能衰竭
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0030016
hpo_term: Dyspareunia
chpo_term: 性交疼痛
id: HP:0100518
hpo_term: Dysuria
chpo_term: 排尿困难
id: HP:0100792
hpo_term: Acantholysis
chpo_term: 皮肤棘层松解
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0200020
hpo_term: Corneal erosion
chpo_term: 角膜糜烂
Disease (ORPHA:163979):
X-linked intellectual disability-craniofacioskeletal syndrome

Associated phenotypes (HPO):
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
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:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001863
hpo_term: Toe clinodactyly
chpo_term: 脚趾屈趾畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0009237
hpo_term: Short 5th finger
chpo_term: 第五指发育不全或不发育
id: HP:0011833
hpo_term: Overhanging nasal tip
chpo_term: 鼻尖悬垂
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001187
hpo_term: Hyperextensibility of the finger joints
chpo_term: 指间关节过伸
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001782
hpo_term: Bulbous tips of toes
chpo_term: 球茎状趾尖
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0002682
hpo_term: Broad skull
chpo_term: 颅骨增宽
id: HP:0002777
hpo_term: Tracheal stenosis
chpo_term: 气管狭窄
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0005306
hpo_term: Capillary hemangioma
chpo_term: 毛细血管瘤
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0008386
hpo_term: Aplasia/Hypoplasia of the nails
chpo_term: 甲发育缺陷/不全
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0010511
hpo_term: Long toe
chpo_term: 长脚趾
id: HP:0011467
hpo_term: Absent gallbladder
chpo_term: 胆囊缺失
id: HP:0011611
hpo_term: Interrupted aortic arch
chpo_term: 主动脉弓断离
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
Disease (ORPHA:139431):
EMEA
Epilepsy with eyelid myoclonia
Jeavons syndrome
Eyelid myoclonia with and without absences
EMA

Associated phenotypes (HPO):
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0011168
hpo_term: Focal seizure with eyelid myoclonia
chpo_term: 局灶性癫痫伴眼睑肌阵挛
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0010852
hpo_term: EEG with photoparoxysmal response
chpo_term: 脑电图，光阵发性反应
id: HP:0010858
hpo_term: EEG with hyperventilation-induced epileptiform discharges
chpo_term: 脑电图，过度换气诱发的癫痫样放电
id: HP:0011185
hpo_term: EEG with focal epileptiform discharges
chpo_term: 脑电图局灶性癫痫样放电
id: HP:0011193
hpo_term: EEG with focal spikes
chpo_term: 脑电图，局灶性棘波
id: HP:0020216
hpo_term: Visually-induced seizure
chpo_term: 视觉诱发性癫痫发作
id: HP:0025190
hpo_term: Bilateral tonic-clonic seizure with generalized onset
chpo_term: 双侧强直- 阵挛发作
id: HP:0045084
hpo_term: Limb myoclonus
chpo_term: 肢体肌阵挛
id: HP:0100785
hpo_term: Insomnia
chpo_term: 失眠
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
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:0002457
hpo_term: Abnormal head movements
chpo_term: 头部运动异常
id: HP:0007704
hpo_term: Paroxysmal involuntary eye movements
chpo_term: 阵发性不自主眼球运动
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0010850
hpo_term: EEG with spike-wave complexes
chpo_term: 脑电图，棘慢复合波
id: HP:0011182
hpo_term: Interictal epileptiform activity
chpo_term: 发作间期癫痫样放电
id: HP:0012001
hpo_term: EEG with generalized polyspikes
chpo_term: 脑电图，广泛性多棘波
id: HP:0010818
hpo_term: Generalized tonic seizure
chpo_term: 全面性强直发作
id: HP:0031491
hpo_term: Continuous spike and waves during slow sleep
chpo_term: 慢波睡眠期持续棘慢波的癫痫
Disease (ORPHA:1225):
Baller-Gerold syndrome

Associated phenotypes (HPO):
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000244
hpo_term: Brachyturricephaly
chpo_term: 短尖头畸形
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0009380
hpo_term: Aplasia of the fingers
chpo_term: 手指发育不全
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:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/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:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001191
hpo_term: Abnormal carpal morphology
chpo_term: 腕骨形态异常
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0006498
hpo_term: Aplasia/Hypoplasia of the patella
chpo_term: 髌骨发育不良/发育不全
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:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000446
hpo_term: Narrow nasal bridge
chpo_term: 鼻梁狭窄
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001029
hpo_term: Poikiloderma
chpo_term: 皮肤异色症
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0002669
hpo_term: Osteosarcoma
chpo_term: 骨肉瘤
id: HP:0100542
hpo_term: Abnormal localization of kidney
chpo_term: 肾脏位置异常
id: HP:0100589
hpo_term: Urogenital fistula
chpo_term: 泌尿生殖道瘘
Disease (ORPHA:2557):
Intellectual disability, Mietens-Weber type
Mietens syndrome

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
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:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
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:0003070
hpo_term: Elbow ankylosis
chpo_term: 肘运动受限
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000647
hpo_term: Sclerocornea
chpo_term: 角膜巩膜化
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0002991
hpo_term: Abnormality of fibula morphology
chpo_term: 腓骨形态异常
id: HP:0005743
hpo_term: Avascular necrosis of the capital femoral epiphysis
chpo_term: 股骨头骨骺缺血性坏死
Disease (ORPHA:139436):
Multicentric reticulohistiocytosis
Lipoid dermatoarthritis
Giant cell histiocytomatosis

Associated phenotypes (HPO):
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0100727
hpo_term: Histiocytosis
chpo_term: 组织细胞增多症
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
Disease (ORPHA:163985):
Hyperekplexia-epilepsy syndrome

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002267
hpo_term: Exaggerated startle response
chpo_term: 过度惊跳反射
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0007333
hpo_term: Hypoplasia of the frontal lobes
chpo_term: 额叶发育不良
id: HP:0010818
hpo_term: Generalized tonic seizure
chpo_term: 全面性强直发作
id: HP:0012018
hpo_term: EEG with temporal focal spikes
chpo_term: 脑电图，伴颞区局灶棘波
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形