TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:93259):
Pfeiffer syndrome type 2

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
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:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
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:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
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:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0002676
hpo_term: Cloverleaf skull
chpo_term: 分叶状颅
id: HP:0002779
hpo_term: Tracheomalacia
chpo_term: 气管软化
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0008080
hpo_term: Hallux varus
chpo_term: 拇趾内翻
id: HP:0009603
hpo_term: Deviation of the thumb
chpo_term: 拇指偏离/移位
id: HP:0010059
hpo_term: Broad hallux phalanx
chpo_term: 拇趾骨变宽
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
Disease (ORPHA:93256):
FXTAS syndrome
Fragile X-associated tremor/ataxia syndrome

Associated phenotypes (HPO):
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
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:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0030216
hpo_term: Inertia
chpo_term: 惰性
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002839
hpo_term: Urinary bladder sphincter dysfunction
chpo_term: 膀胱括约肌功能障碍
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0012083
hpo_term: Ubiquitin-positive cerebral inclusion bodies
chpo_term: 泛素阳性的大脑包涵体
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0012534
hpo_term: Dysesthesia
chpo_term: 感觉障碍
id: HP:0100275
hpo_term: Diffuse cerebellar atrophy
chpo_term: 弥漫性小脑萎缩
id: HP:0100515
hpo_term: Pollakisuria
chpo_term: 尿频
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002363
hpo_term: Abnormal brainstem morphology
chpo_term: 脑干形态异常
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
Disease (ORPHA:840):
Fistulous vegetative verrucous hydradenoma
Papillary syringocystadenoma
Naevus syringocystadenomatosus papilliferus
Syringocystadenoma papilliferum
SCAP
Syringadenoma papilliferum

Associated phenotypes (HPO):
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0010815
hpo_term: Nevus sebaceous
chpo_term: 皮脂腺痣
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
Disease (ORPHA:261311):
Del(20)(q13.33)
Monosomy 20q13.33
20q13.33 microdeletion syndrome

Associated phenotypes (HPO):
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0002813
hpo_term: Abnormality of limb bone morphology
chpo_term: 四肢骨骼形态异常
id: HP:0012520
hpo_term: Dilation of Virchow-Robin spaces
chpo_term: 血管周围间隙扩大
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
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:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0006385
hpo_term: Short lower limbs
chpo_term: 下肢短
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
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:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000460
hpo_term: Narrow nose
chpo_term: 鼻缩窄
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001713
hpo_term: Abnormal cardiac ventricle morphology
chpo_term: 心室形态异常
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0006709
hpo_term: Aplasia/Hypoplasia of the nipples
chpo_term: 乳头发育不全/不良
id: HP:0009899
hpo_term: Prominent crus of helix
chpo_term: 耳轮脚突出
id: HP:0012304
hpo_term: Hypoplastic aortic arch
chpo_term: 主动脉弓发育不全
id: HP:0012858
hpo_term: Decreased scrotal rugation
chpo_term: 阴囊褶皱减少
Disease (ORPHA:180229):
Polyembryoma

Associated phenotypes (HPO):
id: HP:0010785
hpo_term: Gonadal neoplasm
chpo_term: 性腺肿瘤
id: HP:0030061
hpo_term: Neuroectodermal neoplasm
chpo_term: 神经外胚层肿瘤
id: HP:0030338
hpo_term: Abnormal circulating gonadotropin concentration
chpo_term: 循环促性腺激素浓度异常
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002585
hpo_term: Abnormality of the peritoneum
chpo_term: 腹膜异常
id: HP:0005107
hpo_term: Abnormal sacrum morphology
chpo_term: 骶骨形态异常
id: HP:0006254
hpo_term: Elevated alpha-fetoprotein
chpo_term: α-甲胎蛋白升高
id: HP:0012288
hpo_term: Neoplasm of head and neck
chpo_term: 头颈部肿瘤
id: HP:0031500
hpo_term: Abdominal mass
chpo_term: 腹部肿块
id: HP:0040231
hpo_term: Abnormal onset of bleeding
chpo_term: 异常出血
id: HP:0045026
hpo_term: Abnormality of the mediastinum
chpo_term: 纵膈异常
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0000858
hpo_term: Irregular menstruation
chpo_term: 月经不调
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0003144
hpo_term: Increased serum serotonin
chpo_term: 血清5-羟色胺（血清素）水平升高
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0008236
hpo_term: Isosexual precocious puberty
chpo_term: 同性性早熟
id: HP:0030088
hpo_term: Increased serum testosterone level
chpo_term: 血清睾酮水平增高
Disease (ORPHA:2382):
Lennox-Gastaut syndrome

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0011195
hpo_term: EEG with focal sharp slow waves
chpo_term: 脑电图，局灶性尖慢波
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:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002363
hpo_term: Abnormal brainstem morphology
chpo_term: 脑干形态异常
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0007270
hpo_term: Atypical absence seizure
chpo_term: 非典型失神发作
id: HP:0010818
hpo_term: Generalized tonic seizure
chpo_term: 全面性强直发作
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0012075
hpo_term: Personality disorder
chpo_term: 人格障碍
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
Disease (ORPHA:1051):
Corneal anesthesia-hearing loss-intellectual disability syndrome
Ramos-Arroyo syndrome
Corneal anesthesia-deafness-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000309
hpo_term: Abnormal midface morphology
chpo_term: 面中部形态异常
id: HP:0012155
hpo_term: Decreased corneal sensation
chpo_term: 角膜感觉减退
id: HP:0000283
hpo_term: Broad face
chpo_term: 宽脸
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000579
hpo_term: Nasolacrimal duct obstruction
chpo_term: 鼻泪管阻塞
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001525
hpo_term: Severe failure to thrive
chpo_term: 严重生长障碍
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007980
hpo_term: Absent retinal pigment epithelium
chpo_term: 视网膜色素上皮缺如
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0011120
hpo_term: Concave nasal ridge
chpo_term: 凹鼻嵴
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0030491
hpo_term: Choriocapillaris atrophy
chpo_term: 脉络膜毛细血管层萎缩
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000452
hpo_term: Choanal stenosis
chpo_term: 鼻后孔狭窄
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
id: HP:0000620
hpo_term: Dacryocystitis
chpo_term: 泪囊炎
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0004411
hpo_term: Deviated nasal septum
chpo_term: 鼻中隔偏曲
id: HP:0006979
hpo_term: Sleep-wake cycle disturbance
chpo_term: 睡眠-觉醒周期紊乱
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0010298
hpo_term: Smooth tongue
chpo_term: 光舌
id: HP:0010782
hpo_term: Shoulder dimple
chpo_term: 肩酒窝征
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0012537
hpo_term: Food intolerance
chpo_term: 食物不耐受
id: HP:0012804
hpo_term: Corneal ulceration
chpo_term: 角膜溃疡
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
Disease (ORPHA:2380):
Aseptic necrosis of the capital femoral epiphysis
Osteochondrosis of the capital femoral epiphysis
Legg-Calvé-Perthes disease
Perthes disease

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0100773
hpo_term: Cartilage destruction
chpo_term: 软骨破坏
Disease (ORPHA:1059):
Bean syndrome
BRBN
Blue rubber bleb nevus

Associated phenotypes (HPO):
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001048
hpo_term: Cavernous hemangioma
chpo_term: 海绵状血管瘤
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0002580
hpo_term: Volvulus
chpo_term: 肠扭转
id: HP:0002584
hpo_term: Intestinal bleeding
chpo_term: 肠道出血
id: HP:0002597
hpo_term: Abnormality of the vasculature
chpo_term: 脉管系统异常
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0003010
hpo_term: Prolonged bleeding time
chpo_term: 出血时间延长
id: HP:0005244
hpo_term: Gastrointestinal infarctions
chpo_term: 胃肠道梗塞
id: HP:0100026
hpo_term: Arteriovenous malformation
chpo_term: 动静脉畸形
id: HP:0100761
hpo_term: Visceral angiomatosis
chpo_term: 内脏血管瘤病
Disease (ORPHA:2387):
Leukonychia totalis

Associated phenotypes (HPO):
id: HP:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0008388
hpo_term: Abnormal toenail morphology
chpo_term: 趾甲形态异常
id: HP:0009720
hpo_term: Adenoma sebaceum
chpo_term: 皮脂腺腺瘤
Disease (ORPHA:839):
Finnish congenital nephrosis
Congenital nephrotic syndrome, Finnish type

Associated phenotypes (HPO):
id: HP:0000091
hpo_term: Abnormal renal tubule morphology
chpo_term: 肾小管形态异常
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000696
hpo_term: Delayed eruption of permanent teeth
chpo_term: 恒牙萌出延迟
id: HP:0004639
hpo_term: Elevated amniotic fluid alpha-fetoprotein
chpo_term: 羊水甲胎蛋白升高
Disease (ORPHA:1055):
Congenital left ventricular aneurysm

Associated phenotypes (HPO):
id: HP:0001711
hpo_term: Abnormal left ventricle morphology
chpo_term: 左心室形态异常
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0005135
hpo_term: Abnormal T-wave
chpo_term: T波异常
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012249
hpo_term: Abnormal ST segment
chpo_term: ST段异常
Disease (ORPHA:2386):
Leukoencephalopathy-palmoplantar keratoderma syndrome

Associated phenotypes (HPO):
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0002200
hpo_term: Pseudobulbar signs
chpo_term: 假性球麻痹症状
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0010845
hpo_term: EEG with generalized slow activity
chpo_term: 脑电图，广泛性慢活动
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0100252
hpo_term: Diaphyseal dysplasia
chpo_term: 骨干发育不良
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0003380
hpo_term: Decreased number of peripheral myelinated nerve fibers
chpo_term: 周围有髓神经纤维数量减少
Disease (ORPHA:838):
Susac syndrome
Retinocochleocerebral vasculopathy

Associated phenotypes (HPO):
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0000751
hpo_term: Personality changes
chpo_term: 性格改变
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
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:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0100851
hpo_term: Abnormal emotion/affect behavior
chpo_term: 异常情绪/情感行为
Disease (ORPHA:1054):
SOVA
Sinus of Valsalva aneurysm
Aneurysm of sinus of Valsalva
SVA

Associated phenotypes (HPO):
id: HP:0011645
hpo_term: Dilatation of the sinus of Valsalva
chpo_term: 主动脉窦部扩张
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0006689
hpo_term: Bacterial endocarditis
chpo_term: 细菌性心内膜炎
id: HP:0100520
hpo_term: Oliguria
chpo_term: 少尿症
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
Disease (ORPHA:1053):
Vein of Galen aneurysmal malformation
Vein of Galen arteriovenous malformations

Associated phenotypes (HPO):
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0100659
hpo_term: Abnormal cerebral vascular morphology
chpo_term: 脑血管形态异常
id: HP:0100784
hpo_term: Peripheral arteriovenous fistula
chpo_term: 外围动静脉瘘
Disease (ORPHA:251992):
Ganglioneuroma

Associated phenotypes (HPO):
id: HP:0003005
hpo_term: Ganglioneuroma
chpo_term: 神经节瘤
id: HP:0000834
hpo_term: Abnormality of the adrenal glands
chpo_term: 肾上腺异常
id: HP:0005220
hpo_term: Multiple intestinal neurofibromatosis
chpo_term: 多发性肠神经纤维瘤病
id: HP:0045026
hpo_term: Abnormality of the mediastinum
chpo_term: 纵膈异常
id: HP:0200063
hpo_term: Colorectal polyposis
chpo_term: 结直肠息肉病
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
id: HP:0004390
hpo_term: Hamartomatous polyposis
chpo_term: 错构瘤性息肉病
id: HP:0005249
hpo_term: Functional intestinal obstruction
chpo_term: 功能性肠梗阻
id: HP:0100631
hpo_term: Neoplasm of the adrenal gland
chpo_term: 肾上腺肿瘤
id: HP:0000315
hpo_term: Abnormality of the orbital region
chpo_term: 眼眶异常
id: HP:0002034
hpo_term: Abnormal rectum morphology
chpo_term: 直肠形态结构异常
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0003330
hpo_term: Abnormal bone structure
chpo_term: 骨结构异常
id: HP:0007110
hpo_term: Central hypoventilation
chpo_term: 中枢性低通气
id: HP:0008775
hpo_term: Abnormal prostate morphology
chpo_term: 前列腺形态异常
Disease (ORPHA:834):
FSASD
Free sialic acid storage disease
Free sialic acid storage disorder

Associated phenotypes (HPO):
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
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:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002817
hpo_term: Abnormality of the upper limb
chpo_term: 上肢异常
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0010318
hpo_term: Aplasia/Hypoplasia of the abdominal wall musculature
chpo_term: 腹壁肌群发育不良/发育不全
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡