TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:400):
Cystic echinococcosis
Hydatid cyst
Hydatidosis
Hydatid disease

Associated phenotypes (HPO):
id: HP:0001407
hpo_term: Hepatic cysts
chpo_term: 肝囊肿
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002611
hpo_term: Cholestatic liver disease
chpo_term: 胆汁淤积性肝病
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0410019
hpo_term: Epigastric pain
chpo_term: 上腹部疼痛
id: HP:0000775
hpo_term: Abnormality of the diaphragm
chpo_term: 膈肌异常
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0005230
hpo_term: Biliary tract obstruction
chpo_term: 胆道梗阻
id: HP:0005948
hpo_term: Multiple pulmonary cysts
chpo_term: 多发肺囊肿
id: HP:0011458
hpo_term: Abdominal symptom
chpo_term: 腹部症状
id: HP:0025615
hpo_term: Abscess
chpo_term: 脓肿
id: HP:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0031983
hpo_term: Abnormal pulmonary thoracic imaging finding
chpo_term: 肺胸部影像学异常
id: HP:0032101
hpo_term: Unusual infection
chpo_term: 非寻常感染
id: HP:0032445
hpo_term: Pulmonary cyst
chpo_term: 肺囊肿
id: HP:0100845
hpo_term: Anaphylactic shock
chpo_term: 过敏性休克
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000138
hpo_term: Ovarian cyst
chpo_term: 卵巢囊肿
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001732
hpo_term: Abnormality of the pancreas
chpo_term: 胰腺异常
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002585
hpo_term: Abnormality of the peritoneum
chpo_term: 腹膜异常
id: HP:0003011
hpo_term: Abnormality of the musculature
chpo_term: 肌肉组织异常
id: HP:0010576
hpo_term: Intracranial cystic lesion
chpo_term: 颅内囊性病变
id: HP:0011355
hpo_term: Localized skin lesion
chpo_term: 局限性皮损
id: HP:0012062
hpo_term: Bone cyst
chpo_term: 骨囊肿
id: HP:0012578
hpo_term: Membranous nephropathy
chpo_term: 膜性肾病
id: HP:0030423
hpo_term: Splenic cyst
chpo_term: 脾囊肿
id: HP:0031630
hpo_term: Abnormal subpleural morphology
chpo_term: 胸膜下异常形态
id: HP:0031700
hpo_term: Invasive parasitic infection
chpo_term: 侵袭性寄生虫感染
id: HP:0045058
hpo_term: Abnormality of the testis size
chpo_term: 睾丸大小异常
id: HP:0100592
hpo_term: Peritoneal abscess
chpo_term: 腹膜脓肿
Disease (ORPHA:284454):
AZOOR
Acute zonal occult outer retinopathy

Associated phenotypes (HPO):
id: HP:0000539
hpo_term: Abnormality of refraction
chpo_term: 屈光异常
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000575
hpo_term: Scotoma
chpo_term: 盲点
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0030604
hpo_term: Abnormal fundus fluorescein angiography
chpo_term: 荧光素眼底血管造影异常
id: HP:0030644
hpo_term: Blind-spot enlargment
chpo_term: 盲点扩大
id: HP:0030786
hpo_term: Photopsia
chpo_term: 闪光感
id: HP:0200057
hpo_term: Marcus Gunn pupil
chpo_term: Marcus Gunn 瞳孔
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007722
hpo_term: Retinal pigment epithelial atrophy
chpo_term: 视网膜色素上皮萎缩
id: HP:0007814
hpo_term: Retinal pigment epithelial mottling
chpo_term: 视网膜色素上皮斑驳
id: HP:0011531
hpo_term: Vitritis
chpo_term: 玻璃体炎
id: HP:0012377
hpo_term: Hemianopia
chpo_term: 偏盲
id: HP:0030662
hpo_term: Vitreous inflammatory cells
chpo_term: 玻璃体炎症细胞
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000610
hpo_term: Abnormal choroid morphology
chpo_term: 脉络膜形态异常
id: HP:0008046
hpo_term: Abnormal retinal vascular morphology
chpo_term: 视网膜脉管形态异常
id: HP:0030499
hpo_term: Macular drusen
chpo_term: 黄斑玻璃疣
Disease (ORPHA:369840):
LGMD2S
LGMD type 2S
TRAPPC11-related LGMD R18
Autosomal recessive limb-girdle muscular dystrophy type 2S
Limb-girdle muscular dystrophy type 2S
TRAPPC11-related limb-girdle muscular dystrophy R18

Associated phenotypes (HPO):
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
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:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0006785
hpo_term: Limb-girdle muscular dystrophy
chpo_term: 肢带型肌营养不良症
id: HP:0006889
hpo_term: Intellectual disability, borderline
chpo_term: 边缘状态智力障碍
id: HP:0012762
hpo_term: Cerebral white matter atrophy
chpo_term: 脑白质萎缩
id: HP:0040081
hpo_term: Abnormal circulating creatine kinase concentration
chpo_term: 血液肌酸激酶水平异常
id: HP:0100295
hpo_term: Muscle fiber atrophy
chpo_term: 肌纤维萎缩
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0025313
hpo_term: Exophoria
chpo_term: 外隐斜
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0005133
hpo_term: Right ventricular dilatation
chpo_term: 右心室扩张
Disease (ORPHA:2185):
Congenital hydrocephalus

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
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:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002472
hpo_term: Small cerebral cortex
chpo_term: 小大脑皮层
id: HP:0002536
hpo_term: Abnormal cortical gyration
chpo_term: 脑皮质沟回异常
id: HP:0030048
hpo_term: Colpocephaly
chpo_term: 枕角扩大畸形
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:0001104
hpo_term: Macular hypoplasia
chpo_term: 黄斑发育不良
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
Disease (ORPHA:2184):
Hydrocephaly-low insertion umbilicus syndrome
Palmer-Pagon syndrome

Associated phenotypes (HPO):
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0001334
hpo_term: Communicating hydrocephalus
chpo_term: 交通性脑积水
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0004299
hpo_term: Hernia of the abdominal wall
chpo_term: 腹壁疝
id: HP:0010772
hpo_term: Anomalous pulmonary venous return
chpo_term: 肺静脉回流异常
Disease (ORPHA:2183):
Hydrocephalus-obesity-hypogonadism syndrome
Sengers-Hamel-Otten syndrome

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000815
hpo_term: Hypergonadotropic hypogonadism
chpo_term: 高促性腺激素性性腺功能减退症
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0010044
hpo_term: Short 4th metacarpal
chpo_term: 第四掌骨短
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
id: HP:0000864
hpo_term: Abnormality of the hypothalamus-pituitary axis
chpo_term: 下丘脑-垂体轴异常
id: HP:0002550
hpo_term: Absent facial hair
chpo_term: 面部毛发稀疏
id: HP:0007464
hpo_term: Sparse facial hair
chpo_term: 面部毛发稀疏
Disease (ORPHA:2182):
X-linked hydrocephalus with stenosis of aqueduct of Sylvius
Bickers-Adams syndrome
X-linked HSAS
Hydrocephalus with stenosis of the aqueduct of Sylvius
X-linked acqueductal stenosis
HSAS
X-linked hydrocephalus

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001331
hpo_term: Absent septum pellucidum
chpo_term: 透明隔缺如
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002410
hpo_term: Aqueductal stenosis
chpo_term: 中脑导水管狭窄
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (ORPHA:254704):
Benign hyperferritinemia
Genetic hyperferritinemia without 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:0001808
hpo_term: Fragile nails
chpo_term: 脆甲
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0012465
hpo_term: Elevated hepatic iron concentration
chpo_term: 肝内铁浓度升高
id: HP:0040130
hpo_term: Abnormal serum iron concentration
chpo_term: 血清铁异常
id: HP:0040135
hpo_term: Abnormal transferrin saturation
chpo_term: 运铁蛋白饱和度异常
Disease (ORPHA:2181):
Hydrocephaly-tall stature-joint laxity syndrome
Daish-Hardman-Lamont syndrome

Associated phenotypes (HPO):
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0003834
hpo_term: Shoulder dislocation
chpo_term: 肩关节脱位
Disease (ORPHA:2180):
Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
Waaler-Aarskog syndrome
Ferlini-Ragno-Calzolari syndrome

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000912
hpo_term: Sprengel anomaly
chpo_term: 先天性肩胛骨向上移位（Sprengel畸形）
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
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:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
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:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
Disease (ORPHA:369847):
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome

Associated phenotypes (HPO):
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
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:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0006785
hpo_term: Limb-girdle muscular dystrophy
chpo_term: 肢带型肌营养不良症
id: HP:0009020
hpo_term: Exercise-induced muscle fatigue
chpo_term: 运动诱发的肌肉疲劳
id: HP:0009073
hpo_term: Progressive proximal muscle weakness
chpo_term: 进行性近端肌无力
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0005133
hpo_term: Right ventricular dilatation
chpo_term: 右心室扩张
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
Disease (ORPHA:2189):
Hydrolethalus

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001331
hpo_term: Absent septum pellucidum
chpo_term: 透明隔缺如
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0004408
hpo_term: Abnormality of the sense of smell
chpo_term: 嗅觉异常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0030690
hpo_term: Gingival cleft
chpo_term: 牙龈裂
id: HP:0100333
hpo_term: Unilateral cleft lip
chpo_term: 单侧唇裂
id: HP:0100682
hpo_term: Tracheal atresia
chpo_term: 气管闭锁
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0002139
hpo_term: Arrhinencephaly
chpo_term: 无鼻无脑畸形
id: HP:0002323
hpo_term: Anencephaly
chpo_term: 无脑畸形
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0011027
hpo_term: Abnormal fallopian tube morphology
chpo_term: 输卵管形态异常
Disease (ORPHA:457284):
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

Associated phenotypes (HPO):
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:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000297
hpo_term: Facial hypotonia
chpo_term: 面部肌张力低下
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000151
hpo_term: Aplasia of the uterus
chpo_term: 子宫发育不全
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0003250
hpo_term: Aplasia of the vagina
chpo_term: 阴道发育不全
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0006955
hpo_term: Olivopontocerebellar hypoplasia
chpo_term: 橄榄桥脑小脑发育不全
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0010721
hpo_term: Abnormal hair whorl
chpo_term: 毛发异常旋涡式生长
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0012304
hpo_term: Hypoplastic aortic arch
chpo_term: 主动脉弓发育不全
id: HP:0025607
hpo_term: Upper eyelid entropion
chpo_term: 上眼睑内翻
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
Disease (ORPHA:53583):
Episodic choreoathetosis/spasticity
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
DYT9

Associated phenotypes (HPO):
id: HP:0007166
hpo_term: Paroxysmal dyskinesia
chpo_term: 发作性运动障碍
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002131
hpo_term: Episodic ataxia
chpo_term: 发作性共济失调
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
Disease (ORPHA:2295):
Familial articular hypermobility syndrome
Joint instability syndrome
Familial joint instability syndrome
Familial joint laxity

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0002815
hpo_term: Abnormality of the knee
chpo_term: 膝关节异常
id: HP:0002823
hpo_term: Abnormality of femur morphology
chpo_term: 股骨形态异常
id: HP:0002999
hpo_term: Patellar dislocation
chpo_term: 髌骨脱位
id: HP:0003834
hpo_term: Shoulder dislocation
chpo_term: 肩关节脱位
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
Disease (ORPHA:2291):
Congenital velopharyngeal incompetence

Associated phenotypes (HPO):
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000220
hpo_term: Velopharyngeal insufficiency
chpo_term: 腭咽机能不全
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000600
hpo_term: Abnormality of the pharynx
chpo_term: 咽部异常
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
Disease (ORPHA:2290):
Microvillous inclusion disease
Microvillus inclusion disease
MVID
Congenital microvillous atrophy
Congenital microvillus atrophy

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0011106
hpo_term: Hypovolemia
chpo_term: 血容量不足
id: HP:0011472
hpo_term: Abnormality of small intestinal villus morphology
chpo_term: 小肠绒毛形态异常
id: HP:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0012211
hpo_term: Abnormal renal physiology
chpo_term: 肾脏生理异常