TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:457193):
KAT6A syndrome
Arboleda-Tham syndrome
KAT6-related intellectual disability-craniofacial anomalies-cardiac defects 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:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
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:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0007678
hpo_term: Lacrimal duct stenosis
chpo_term: 泪道狭窄
Disease (ORPHA:2958):
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
Prieto-Badia-Mulas syndrome

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
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: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:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001098
hpo_term: Abnormal fundus morphology
chpo_term: 眼底形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0005815
hpo_term: Supernumerary ribs
chpo_term: 多余肋
id: HP:0010499
hpo_term: Patellar subluxation
chpo_term: 髌骨半脱位
id: HP:0010781
hpo_term: Skin dimple
chpo_term: 皮肤酒窝征
id: HP:0011064
hpo_term: Abnormal number of incisors
chpo_term: 切牙数目异常
id: HP:0040019
hpo_term: Finger clinodactyly
chpo_term: 指弯曲
Disease (ORPHA:243343):
DMGDH deficiency
DMG dehydrogenase deficiency
Dimethylglycine dehydrogenase deficiency

Associated phenotypes (HPO):
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003750
hpo_term: Increased muscle fatiguability
chpo_term: 肌肉易疲劳
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0410020
hpo_term: Fish odor
chpo_term: 鱼腥味
Disease (ORPHA:1627):
Del (5)(q35)
Distal 5q deletion
Del (5)(qter)
Deletion 5q35 syndrome
Telomeric deletion 5q
Monosomy 5q35

Associated phenotypes (HPO):
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
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:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0002557
hpo_term: Hypoplastic nipples
chpo_term: 乳头发育不良
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0010880
hpo_term: Increased nuchal translucency
chpo_term: 颈部透明层厚度增加
Disease (ORPHA:314621):
Duplication of the pituitary gland
Hypophyseal duplication
Duplication of the pituitary gland-plus syndrome
DPG-plus syndrome

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000157
hpo_term: Abnormality of the tongue
chpo_term: 舌异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000244
hpo_term: Brachyturricephaly
chpo_term: 短尖头畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
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:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残
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:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0002418
hpo_term: Abnormal midbrain morphology
chpo_term: 中脑形态异常
id: HP:0002679
hpo_term: Abnormal sella turcica morphology
chpo_term: 蝶鞍形态异常
id: HP:0002943
hpo_term: Thoracic scoliosis
chpo_term: 胸部脊柱侧弯
id: HP:0003310
hpo_term: Abnormality of the odontoid process
chpo_term: 齿状突异常
id: HP:0003319
hpo_term: Abnormality of the cervical spine
chpo_term: 颈椎异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0007036
hpo_term: Hypoplasia of olfactory tract
chpo_term: 嗅束发育不良
id: HP:0007642
hpo_term: Congenital stationary night blindness
chpo_term: 先天性静止性夜盲症
id: HP:0009792
hpo_term: Teratoma
chpo_term: 畸胎瘤
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011069
hpo_term: Supernumerary tooth
chpo_term: 多生牙
id: HP:0011729
hpo_term: Abnormality of joint mobility
chpo_term: 关节活动异常
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0012286
hpo_term: Abnormal hypothalamus morphology
chpo_term: 下丘脑形态异常
id: HP:0012503
hpo_term: Abnormality of the pituitary gland
chpo_term: 垂体异常
id: HP:0100872
hpo_term: Abnormality of the plantar skin of foot
chpo_term: 跖部皮肤异常
id: HP:3000005
hpo_term: Abnormality of masseter muscle
chpo_term: 咬肌异常
id: HP:0002580
hpo_term: Volvulus
chpo_term: 肠扭转
Disease (ORPHA:309263):
MLD, juvenile form
Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, juvenile form

Associated phenotypes (HPO):
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0004343
hpo_term: Abnormal glycosphingolipid metabolism
chpo_term: 鞘糖脂代谢异常
id: HP:0012433
hpo_term: Abnormal social behavior
chpo_term: 社会行为异常
id: HP:0030081
hpo_term: Punctate periventricular T2 hyperintense foci
chpo_term: 脑室周围白质点状T2高信号灶
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0000746
hpo_term: Delusions
chpo_term: 妄想
id: HP:0001082
hpo_term: Cholecystitis
chpo_term: 胆囊炎
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002371
hpo_term: Loss of speech
chpo_term: 言语不能
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0003444
hpo_term: EMG: chronic denervation signs
chpo_term: 肌电图:慢性失神经支配的征象
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007133
hpo_term: Progressive peripheral neuropathy
chpo_term: 进行性周围神经病
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0007272
hpo_term: Progressive psychomotor deterioration
chpo_term: 进行性精神运动恶化
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0025013
hpo_term: Decerebrate rigidity
chpo_term: 去大脑僵直
id: HP:0031358
hpo_term: Vegetative state
chpo_term: 植物状态
Disease (ORPHA:2942):
Postpoliomyelitis sequelae
Postpolio sequelae
Postpoliomyelitic syndrome
Postpoliomyelitis syndrome
Postpolio syndrome

Associated phenotypes (HPO):
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0011446
hpo_term: Abnormality of higher mental function
chpo_term: 高级精神功能异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100786
hpo_term: Hypersomnia
chpo_term: 过度睡眠
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001367
hpo_term: Abnormal joint morphology
chpo_term: 关节形态异常
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0002791
hpo_term: Hypoventilation
chpo_term: 通气不足
Disease (ORPHA:48918):
Inflammatory pseudotumor of skeletal muscle
Focal nodular myositis
Focal myositis

Associated phenotypes (HPO):
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
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:0100614
hpo_term: Myositis
chpo_term: 肌炎
Disease (ORPHA:271861):
Hereditary ATTR amyloidosis
ATTRv amyloidosis
Hereditary transthyretin amyloid polyneuropathy
Familial transthyretin-related amyloidosis
Familial TTR-related amyloidosis
hATTR
Hereditary TTR amyloidosis
Hereditary TTR amyloid polyneuropathy

Associated phenotypes (HPO):
id: HP:0000016
hpo_term: Urinary retention
chpo_term: 尿潴留
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0000970
hpo_term: Anhidrosis
chpo_term: 无汗症
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001723
hpo_term: Restrictive cardiomyopathy
chpo_term: 限制型心肌病
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002578
hpo_term: Gastroparesis
chpo_term: 胃轻瘫
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0004926
hpo_term: Orthostatic hypotension due to autonomic dysfunction
chpo_term: 自主神经功能障碍性体位性低血压
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012185
hpo_term: Constrictive median neuropathy
chpo_term: 压迫性正中神经病变
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:0012722
hpo_term: Heart block
chpo_term: 心脏传导阻滞
id: HP:0031327
hpo_term: Transthyretin cardiac amyloidosis
chpo_term: 甲状腺素转运蛋白心脏淀粉样变性
id: HP:0100832
hpo_term: Vitreous floaters
chpo_term: 玻璃体漂浮物
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0004610
hpo_term: Lumbar spinal canal stenosis
chpo_term: 腰椎管狭窄
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0010829
hpo_term: Impaired temperature sensation
chpo_term: 温度觉障碍
id: HP:0011970
hpo_term: Cerebral amyloid angiopathy
chpo_term: 脑淀粉样血管病
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0025309
hpo_term: Abnormal pupil shape
chpo_term: 瞳孔形状异常
id: HP:0031006
hpo_term: Acroparesthesia
chpo_term: 肢端感觉障碍
id: HP:0031189
hpo_term: Wrist drop
chpo_term: 垂腕
id: HP:0033748
hpo_term: Hypoesthesia
chpo_term: 感觉迟钝
id: HP:0100550
hpo_term: Tendon rupture
chpo_term: 肌腱断裂
Disease (ORPHA:1617):
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
Del(2)(q24)
Monosomy 2q24

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000190
hpo_term: Abnormal oral frenulum morphology
chpo_term: 口腔系带形态异常
id: HP:0000274
hpo_term: Small face
chpo_term: 小脸
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000525
hpo_term: Abnormality iris morphology
chpo_term: 虹膜形态异常
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001188
hpo_term: Hand clenching
chpo_term: 攥拳手
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:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002871
hpo_term: Central apnea
chpo_term: 中枢性呼吸暂停
id: HP:0010078
hpo_term: Bullet-shaped distal phalanx of the hallux
chpo_term: 拇趾子弹形末节趾骨
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
Disease (ORPHA:163596):
Alpha-thalassemia hydrops fetalis
Hemoglobin Bart's hydrops fetalis
Hemoglobin Bart's disease
Haemoglobin Bart's hydrops fetalis syndrome
Haemoglobin Bart's hydrops fetalis
Homozygous alpha0-thalassemia
Hb Bart's hydrops fetalis syndrome
HBHF
Hb Bart's hydrops fetalis
Hemoglobin Bart's hydrops fetalis syndrome
BHFS
Alpha-thalassemia major
Haemoglobin Bart's disease

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0011902
hpo_term: Abnormal hemoglobin
chpo_term: 血红蛋白异常
id: HP:0100602
hpo_term: Preeclampsia
chpo_term: 先兆子痫
Disease (ORPHA:2940):
Porencephaly

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:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002132
hpo_term: Porencephalic cyst
chpo_term: 脑穿通性囊肿
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:596):
X-linked centronuclear myopathy
X-linked myotubular myopathy
XLCNM
XLMTM

Associated phenotypes (HPO):
id: HP:0003755
hpo_term: Type 1 fibers relatively smaller than type 2 fibers
chpo_term: 1型纤维相对于2型纤维小
id: HP:0030917
hpo_term: Low APGAR score
chpo_term: 低APGAR评分
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
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:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0004887
hpo_term: Respiratory failure requiring assisted ventilation
chpo_term: 呼吸衰竭，需要辅助通气
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0030192
hpo_term: Fatigable weakness of bulbar muscles
chpo_term: 口咽部肌肉疲劳性无力
id: HP:0030195
hpo_term: Fatigable weakness of swallowing muscles
chpo_term: 吞咽肌肉疲劳性无力
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0031238
hpo_term: Necklace skeletal muscle fibers
chpo_term: 项链样骨骼肌纤维
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
Disease (ORPHA:598):
Multiminicore myopathy
Multiminicore disease
MmD

Associated phenotypes (HPO):
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0003789
hpo_term: Minicore myopathy
chpo_term: 小核肌病
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
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:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0004303
hpo_term: Abnormal muscle fiber morphology
chpo_term: 肌纤维形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
id: HP:0002047
hpo_term: Malignant hyperthermia
chpo_term: 恶性高热
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
Disease (ORPHA:597):
Central core disease

Associated phenotypes (HPO):
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
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:0002047
hpo_term: Malignant hyperthermia
chpo_term: 恶性高热
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0003749
hpo_term: Pelvic girdle muscle weakness
chpo_term: 骨盆带肌无力
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0030230
hpo_term: Central core regions in muscle fibers
chpo_term: 肌肉纤维的中央核区域
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0002483
hpo_term: Bulbar signs
chpo_term: 球部体征
id: HP:0003798
hpo_term: Nemaline bodies
chpo_term: 杆状体
id: HP:0040081
hpo_term: Abnormal circulating creatine kinase concentration
chpo_term: 血液肌酸激酶水平异常
id: HP:0001989
hpo_term: Fetal akinesia sequence
chpo_term: 胎儿运动不能序列征
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
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:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0040191
hpo_term: Rectus femoris muscle atrophy
chpo_term: 股四头肌肌肉萎缩
Disease (ORPHA:592):
MMF
Macrophagic myofasciitis

Associated phenotypes (HPO):
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏