TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:3168):
Brachydactyly-symphalangism syndrome
Sillence syndrome

Associated phenotypes (HPO):
id: HP:0008419
hpo_term: Intervertebral disc degeneration
chpo_term: 椎间盘退行性变
id: HP:0008818
hpo_term: Large iliac wing
chpo_term: 大髂骨翼
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0009832
hpo_term: Abnormal distal phalanx morphology of finger
chpo_term: 末节指骨形态异常
id: HP:0009834
hpo_term: Abnormal proximal phalanx morphology of the hand
chpo_term: 手指近节指骨形态异常
id: HP:0010052
hpo_term: Abnormal morphology of the proximal phalanx of the hallux
chpo_term: 拇趾近节趾骨形态异常
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0010239
hpo_term: Aplasia of the middle phalanx of the hand
chpo_term: 中节指骨发育不全
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000300
hpo_term: Oval face
chpo_term: 卵形脸
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001533
hpo_term: Slender build
chpo_term: 修长的身材
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001782
hpo_term: Bulbous tips of toes
chpo_term: 球茎状趾尖
id: HP:0001783
hpo_term: Broad metatarsal
chpo_term: 跖骨变宽
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0004679
hpo_term: Large tarsal bones
chpo_term: 大跗骨
id: HP:0006170
hpo_term: Chess-pawn distal phalanges
chpo_term: 国际象棋棋子状的远端指骨
Disease (ORPHA:228305):
CPT2, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, severe infantile form
CPT2, severe infantile form
Carnitine palmitoyl transferase II deficiency, severe infantile form
CPTII, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form
Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form
CPTII, severe infantile form

Associated phenotypes (HPO):
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:0006929
hpo_term: Hypoglycemic encephalopathy
chpo_term: 低血糖脑病
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012380
hpo_term: Reduced carnitine O-palmitoyltransferase level
chpo_term: 肉毒碱棕榈酰转移酶活性降低
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
id: HP:0002913
hpo_term: Myoglobinuria
chpo_term: 肌红蛋白尿
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003449
hpo_term: Cold-induced muscle cramps
chpo_term: 冷刺激引起的肌肉痉挛
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0003710
hpo_term: Exercise-induced muscle cramps
chpo_term: 运动引起的肌肉痉挛
id: HP:0003738
hpo_term: Exercise-induced myalgia
chpo_term: 运动诱发的肌肉痛
id: HP:0008315
hpo_term: Decreased plasma free carnitine
chpo_term: 血浆游离肉碱降低
id: HP:0011936
hpo_term: Decreased plasma total carnitine
chpo_term: 血浆总肉碱降低
id: HP:0011964
hpo_term: Intermittent painful muscle spasms
chpo_term: 间歇性痛性肌痉挛
id: HP:0040320
hpo_term: Red-brown urine
chpo_term: 红棕色尿液
id: HP:0045045
hpo_term: Elevated circulating acylcarnitine concentration
chpo_term: 血浆酰基肉碱水平升高
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001714
hpo_term: Ventricular hypertrophy
chpo_term: 心室肥厚
id: HP:0001985
hpo_term: Hypoketotic hypoglycemia
chpo_term: 低酮性低血糖
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
Disease (ORPHA:3169):
Sirenomelia

Associated phenotypes (HPO):
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0010305
hpo_term: Absence of the sacrum
chpo_term: 骶骨缺如
id: HP:0010497
hpo_term: Sirenomelia
chpo_term: 美人鱼综合症（并腿畸形）
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
Disease (ORPHA:53693):
Fellman disease
GRACILE syndrome
Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001994
hpo_term: Renal Fanconi syndrome
chpo_term: 肾范可尼综合征
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0012464
hpo_term: Decreased transferrin saturation
chpo_term: 转铁蛋白饱和度降低
id: HP:0012465
hpo_term: Elevated hepatic iron concentration
chpo_term: 肝内铁浓度升高
id: HP:0100613
hpo_term: Death in early adulthood
chpo_term: 成年早期死亡
Disease (ORPHA:370930):
XYLT1-CDG

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000885
hpo_term: Broad ribs
chpo_term: 宽肋骨
id: HP:0000894
hpo_term: Short clavicles
chpo_term: 短锁骨
id: HP:0001027
hpo_term: Soft, doughy skin
chpo_term: 面团样柔性皮肤
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
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:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
id: HP:0500011
hpo_term: Moon facies
chpo_term: 满月脸
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
Disease (ORPHA:53697):
GDD
Gnathodiaphyseal dysplasia

Associated phenotypes (HPO):
id: HP:0000935
hpo_term: Thickened cortex of long bones
chpo_term: 长骨骨皮质增厚
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0007626
hpo_term: Mandibular osteomyelitis
chpo_term: 下颌骨骨髓炎
id: HP:0012802
hpo_term: Broad jaw
chpo_term: 宽下颌
Disease (ORPHA:52368):
Deafness-dystonia-optic neuronopathy syndrome
Hearing loss-dystonia-optic neuronopathy syndrome
Mohr-Tranebjaerg syndrome
DDON syndrome

Associated phenotypes (HPO):
id: HP:0000375
hpo_term: Abnormal cochlea morphology
chpo_term: 耳蜗异常
id: HP:0000399
hpo_term: Prelingual sensorineural hearing impairment
chpo_term: 学语前感音神经性听力损失
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0004463
hpo_term: Absent brainstem auditory responses
chpo_term: 脑干听觉反应消失
id: HP:0006801
hpo_term: Hyperactive deep tendon reflexes
chpo_term: 腱反射亢进
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0007377
hpo_term: Abnormality of somatosensory evoked potentials
chpo_term: 体感诱发电位异常
id: HP:0008596
hpo_term: Postlingual sensorineural hearing impairment
chpo_term: 学语后感音神经性听力损失
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0012048
hpo_term: Oromandibular dystonia
chpo_term: 口下颌肌张力障碍
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000751
hpo_term: Personality changes
chpo_term: 性格改变
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0002340
hpo_term: Caudate atrophy
chpo_term: 尾状核萎缩
id: HP:0002362
hpo_term: Shuffling gait
chpo_term: 曳行步态
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0004373
hpo_term: Focal dystonia
chpo_term: 局限性肌张力障碍
id: HP:0004432
hpo_term: Agammaglobulinemia
chpo_term: 无丙种球蛋白血症
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0011951
hpo_term: Aspiration pneumonia
chpo_term: 吸入性肺炎
id: HP:0011999
hpo_term: Paranoia
chpo_term: 偏执狂
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
Disease (ORPHA:444099):
SPG73
Autosomal dominant spastic paraplegia type 73

Associated phenotypes (HPO):
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002314
hpo_term: Degeneration of the lateral corticospinal tracts
chpo_term: 皮质脊髓侧束变性
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007020
hpo_term: Progressive spastic paraplegia
chpo_term: 进行性痉挛性截瘫
id: HP:0000012
hpo_term: Urinary urgency
chpo_term: 尿急
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0007199
hpo_term: Progressive spastic paraparesis
chpo_term: 进行性痉挛性轻瘫
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0012898
hpo_term: Abnormal lower-limb motor evoked potentials
chpo_term: 下肢运动诱发电位异常
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002921
hpo_term: Abnormality of the cerebrospinal fluid
chpo_term: 脑脊液异常
Disease (ORPHA:555874):
Congenital tricuspid valve dysplasia

Associated phenotypes (HPO):
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001667
hpo_term: Right ventricular hypertrophy
chpo_term: 右心室肥厚
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0004887
hpo_term: Respiratory failure requiring assisted ventilation
chpo_term: 呼吸衰竭，需要辅助通气
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0010772
hpo_term: Anomalous pulmonary venous return
chpo_term: 肺静脉回流异常
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0031441
hpo_term: Abnormal tricuspid valve annulus morphology
chpo_term: 三尖瓣环形态异常
id: HP:0031443
hpo_term: Abnormal tricuspid valve leaflet morphology
chpo_term: 三尖瓣小叶形态异常
id: HP:0031664
hpo_term: Systolic heart murmur
chpo_term: 心脏收缩期杂音
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0001704
hpo_term: Tricuspid valve prolapse
chpo_term: 三尖瓣脱垂
id: HP:0030718
hpo_term: Right atrial enlargement
chpo_term: 右心房扩大
Disease (ORPHA:263534):
Acral PSS
Peeling skin syndrome 2
PSS 2
Acral peeling skin syndrome
Localized PSS

Associated phenotypes (HPO):
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0008499
hpo_term: High hypermetropia
chpo_term: 高度远视
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012393
hpo_term: Allergy
chpo_term: 过敏
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0007605
hpo_term: Excessive wrinkling of palmar skin
chpo_term: 手掌部皱褶过多
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
Disease (ORPHA:3151):
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome

Associated phenotypes (HPO):
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001881
hpo_term: Abnormal leukocyte morphology
chpo_term: 白细胞形态异常
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0100654
hpo_term: Retrobulbar optic neuritis
chpo_term: 球后视神经炎
Disease (ORPHA:3152):
Sclerosteosis
Cortical hyperostosis-syndactyly syndrome

Associated phenotypes (HPO):
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000366
hpo_term: Abnormality of the nose
chpo_term: 鼻异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001233
hpo_term: 2-3 finger syndactyly
chpo_term: 第二-三指并指
id: HP:0003103
hpo_term: Abnormal cortical bone morphology
chpo_term: 皮质骨形态异常
id: HP:0004493
hpo_term: Craniofacial hyperostosis
chpo_term: 颅面骨骨质增生
id: HP:0005019
hpo_term: Diaphyseal thickening
chpo_term: 骨干增粗
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0009838
hpo_term: Curved distal phalanges of the hand
chpo_term: 末节指骨弯曲
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0100798
hpo_term: Fingernail dysplasia
chpo_term: 指甲发育不良
Disease (ORPHA:555877):
FLNA-related X-linked myxomatous valvular dysplasia
FLNA-related valvular dystrophy
Filamin A-related X-linked myxomatous valvular dysplasia

Associated phenotypes (HPO):
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0010444
hpo_term: Pulmonary insufficiency
chpo_term: 肺动脉瓣关闭不全
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0031624
hpo_term: Moderate myopia
chpo_term: 中度近视
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0030718
hpo_term: Right atrial enlargement
chpo_term: 右心房扩大
id: HP:0032388
hpo_term: Periventricular nodular heterotopia
chpo_term: 脑室周围结节性异位症
Disease (ORPHA:171851):
Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome
MEDNIK syndrome
Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome

Associated phenotypes (HPO):
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002242
hpo_term: Abnormal intestine morphology
chpo_term: 小肠形态异常
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0001406
hpo_term: Intrahepatic cholestasis
chpo_term: 肝内胆汁淤积
id: HP:0010837
hpo_term: Decreased circulating ceruloplasmin concentration
chpo_term: 血清铜蓝蛋白降低
id: HP:0011967
hpo_term: Decreased circulating copper concentration
chpo_term: 低铜血症
Disease (ORPHA:65681):
Vaginal atresia

Associated phenotypes (HPO):
id: HP:0000148
hpo_term: Vaginal atresia
chpo_term: 阴道闭锁
id: HP:0000130
hpo_term: Abnormality of the uterus
chpo_term: 子宫异常
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0030011
hpo_term: Imperforate hymen
chpo_term: 处女膜闭锁
id: HP:0031500
hpo_term: Abdominal mass
chpo_term: 腹部肿块
id: HP:0031501
hpo_term: Pelvic mass
chpo_term: 盆腔肿块
id: HP:0003762
hpo_term: Uterus didelphys
chpo_term: 双子宫
id: HP:0030160
hpo_term: Cervicitis
chpo_term: 宫颈炎
id: HP:0100674
hpo_term: Vaginal hematocele
chpo_term: 睾丸鞘膜积血
id: HP:0000145
hpo_term: Transverse vaginal septum
chpo_term: 阴道横膈
id: HP:0000813
hpo_term: Bicornuate uterus
chpo_term: 双角子宫
Disease (ORPHA:65682):
Benign recurrent intrahepatic cholestasis
Summerskill-Walshe-Tygstrup syndrome
BRIC

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
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: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:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002611
hpo_term: Cholestatic liver disease
chpo_term: 胆汁淤积性肝病
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0011985
hpo_term: Acholic stools
chpo_term: 无胆色大便
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
Disease (ORPHA:65683):
Epilepsy due to FCD
Isolated focal cortical dysplasia

Associated phenotypes (HPO):
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002361
hpo_term: Psychomotor deterioration
chpo_term: 精神运动性恶化
id: HP:0012757
hpo_term: Abnormal neuron morphology
chpo_term: 神经元形态异常
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002536
hpo_term: Abnormal cortical gyration
chpo_term: 脑皮质沟回异常
id: HP:0006891
hpo_term: Thick cerebral cortex
chpo_term: 大脑皮层增厚
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0031951
hpo_term: Nocturnal seizures
chpo_term: 夜间癫痫发作
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0025170
hpo_term: Neuronal/glioneuronal neoplasm of the central nervous system
chpo_term: 中枢神经系统神经元/神经胶质细胞瘤
Disease (ORPHA:65684):
Benign focal amyotrophy
Juvenile muscular atrophy of distal upper extremity
Monomelic amyotrophy
Hirayama disease
Juvenile muscular atrophy of the distal upper limb
JMADUE

Associated phenotypes (HPO):
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0002398
hpo_term: Degeneration of anterior horn cells
chpo_term: 前角细胞变性
id: HP:0002715
hpo_term: Abnormality of the immune system
chpo_term: 免疫系统异常
id: HP:0002817
hpo_term: Abnormality of the upper limb
chpo_term: 上肢异常
id: HP:0003134
hpo_term: Abnormality of peripheral nerve conduction
chpo_term: 周围神经传导异常
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0007149
hpo_term: Distal upper limb amyotrophy
chpo_term: 上肢远端肌萎缩
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:178487):
Adult intestinal colonization botulism
Adult intestinal toxemia botulism
Adult intestinal botulism
Adult intestinal toxin-mediated botulism
Infant-like botulism

Associated phenotypes (HPO):
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0006597
hpo_term: Diaphragmatic paralysis
chpo_term: 膈肌麻痹
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫