TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:459033):
Ataxia-oculomotor apraxia type 4
AOA4

Associated phenotypes (HPO):
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0002442
hpo_term: Dyscalculia
chpo_term: 计算困难
id: HP:0010522
hpo_term: Dyslexia
chpo_term: 失读症
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000570
hpo_term: Abnormal saccadic eye movements
chpo_term: 眼球扫视运动异常
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0001780
hpo_term: Abnormality of toe
chpo_term: 脚趾异常
id: HP:0008955
hpo_term: Progressive distal muscular atrophy
chpo_term: 进行性远端肌萎缩
Disease (ORPHA:247604):
JPLS
Juvenile PLS
Juvenile primary lateral sclerosis

Associated phenotypes (HPO):
id: HP:0000014
hpo_term: Abnormality of the bladder
chpo_term: 膀胱异常
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002127
hpo_term: Abnormal upper motor neuron morphology
chpo_term: 上运动神经元形态异常
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0002193
hpo_term: Pseudobulbar behavioral symptoms
chpo_term: 假性延髓行为症状
id: HP:0002371
hpo_term: Loss of speech
chpo_term: 言语不能
id: HP:0002464
hpo_term: Spastic dysarthria
chpo_term: 痉挛性构音障碍
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
Disease (ORPHA:79301):
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
BASD1
Congenital bile acid synthesis defect type 1

Associated phenotypes (HPO):
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001080
hpo_term: Biliary tract abnormality
chpo_term: 胆道异常
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0006566
hpo_term: Neonatal cholestatic liver disease
chpo_term: 新生儿胆汁淤积性肝病
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
Disease (ORPHA:1766):
Uner Tan syndrome
Dysequilibrium syndrome
Cerebellar ataxia-intellectual disability-dysequilibrium syndrome
CAMRQ syndrome
UTS
Non-progressive cerebellar ataxia-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
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: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:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
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: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:79302):
Oxysterol 7-alpha-hydroxylase deficiency
BASD3
Congenital bile acid synthesis defect type 3

Associated phenotypes (HPO):
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
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:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001408
hpo_term: Bile duct proliferation
chpo_term: 胆管增生
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0002630
hpo_term: Fat malabsorption
chpo_term: 脂肪吸收障碍
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0100508
hpo_term: Abnormality of vitamin metabolism
chpo_term: 维生素代谢异常
Disease (ORPHA:79303):
Congenital bile acid synthesis defect type 2
Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
BASD2

Associated phenotypes (HPO):
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0200084
hpo_term: Giant cell hepatitis
chpo_term: 巨细胞肝炎
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
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:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001978
hpo_term: Extramedullary hematopoiesis
chpo_term: 髓外造血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002570
hpo_term: Steatorrhea
chpo_term: 脂肪泻
id: HP:0002630
hpo_term: Fat malabsorption
chpo_term: 脂肪吸收障碍
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
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:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0030984
hpo_term: Abnormal serum bile acid concentration
chpo_term: 血清胆汁酸浓度异常
id: HP:0040319
hpo_term: Dark urine
chpo_term: 深色尿液
id: HP:0100513
hpo_term: Low levels of vitamin E
chpo_term: 维生素E缺乏症
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0011040
hpo_term: Abnormal intrahepatic bile duct morphology
chpo_term: 肝内胆管形态异常
Disease (ORPHA:252183):
Neurofibroma

Associated phenotypes (HPO):
id: HP:0001067
hpo_term: Neurofibromas
chpo_term: 神经纤维瘤
id: HP:0007470
hpo_term: Periarticular subcutaneous nodules
chpo_term: 关节周围皮下结节
id: HP:0009732
hpo_term: Plexiform neurofibroma
chpo_term: 丛状神经纤维瘤
id: HP:0012645
hpo_term: Enlarged peripheral nerve
chpo_term: 周围神经增粗
id: HP:0100698
hpo_term: Subcutaneous neurofibromas
chpo_term: 皮下的神经纤维瘤
id: HP:0001291
hpo_term: Abnormal cranial nerve morphology
chpo_term: 颅神经形态异常
id: HP:0003406
hpo_term: Peripheral nerve compression
chpo_term: 周围神经受压
id: HP:0003416
hpo_term: Spinal canal stenosis
chpo_term: 椎管狭窄
id: HP:0006751
hpo_term: Paraspinal neurofibromas
chpo_term: 椎旁神经纤维瘤
id: HP:0006851
hpo_term: Symmetric spinal nerve root neurofibromas
chpo_term: 对称的脊神经根神经纤维瘤
id: HP:0009735
hpo_term: Spinal neurofibromas
chpo_term: 脊髓神经纤维瘤
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0002584
hpo_term: Intestinal bleeding
chpo_term: 肠道出血
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0005220
hpo_term: Multiple intestinal neurofibromatosis
chpo_term: 多发性肠神经纤维瘤病
id: HP:0007524
hpo_term: Atypical neurofibromatosis
chpo_term: 非典型神经纤维瘤病
id: HP:0007576
hpo_term: Palmar neurofibromas
chpo_term: 手掌神经纤维瘤
id: HP:0009593
hpo_term: Peripheral Schwannoma
chpo_term: 周围神经鞘瘤
id: HP:0011801
hpo_term: Enlargement of parotid gland
chpo_term: 腮腺肿大
id: HP:0012289
hpo_term: Facial neoplasm
chpo_term: 面部肿瘤
id: HP:0012440
hpo_term: Abnormal biliary tract morphology
chpo_term: 胆道形态异常
id: HP:0100010
hpo_term: Spinal meningioma
chpo_term: 脊膜瘤
id: HP:0100013
hpo_term: Neoplasm of the breast
chpo_term: 乳腺肿瘤
id: HP:0100527
hpo_term: Neoplasia of the pleura
chpo_term: 胸膜肿瘤
id: HP:0100551
hpo_term: Neoplasm of the trachea
chpo_term: 气管肿瘤
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0010609
hpo_term: Skin tags
chpo_term: 皮赘
Disease (ORPHA:35706):
Glutaric aciduria type 3
Glutaryl-CoA oxidase deficiency
Glutaric acidemia type 3

Associated phenotypes (HPO):
id: HP:0003150
hpo_term: Glutaric aciduria
chpo_term: 戊二酸尿症
id: HP:0011021
hpo_term: Abnormality of circulating enzyme level
chpo_term: 循环系统内酶浓度水平异常
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001993
hpo_term: Ketoacidosis
chpo_term: 酮症酸中毒
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
id: HP:0003530
hpo_term: Elevated circulating glutaric acid concentration
chpo_term: 戊二酸血症
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
Disease (ORPHA:178509):
Perry syndrome
Parkinsonism with alveolar hypoventilation and mental depression

Associated phenotypes (HPO):
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
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:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0007110
hpo_term: Central hypoventilation
chpo_term: 中枢性低通气
Disease (ORPHA:35701):
HMG-CoA synthase deficiency
3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
Disease (ORPHA:397951):
Microcephaly-thin corpus callosum-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
Disease (ORPHA:357001):
19p13.13 microdeletion syndrome
Del(19)(p13.13)
Monosomy 19p13.13

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
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:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
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:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0012719
hpo_term: Functional abnormality of the gastrointestinal tract
chpo_term: 胃肠道功能异常
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0001869
hpo_term: Deep plantar creases
chpo_term: 跖部深褶
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0007099
hpo_term: Chiari type I malformation
chpo_term: 小脑扁桃体下疝畸形（Chiari I 型畸形）
id: HP:0007333
hpo_term: Hypoplasia of the frontal lobes
chpo_term: 额叶发育不良
id: HP:0007371
hpo_term: Corpus callosum atrophy
chpo_term: 胼胝体萎缩
id: HP:0010880
hpo_term: Increased nuchal translucency
chpo_term: 颈部透明层厚度增加
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
Disease (ORPHA:438114):
RARS-related autosomal recessive hypomyelinating leukodystrophy

Associated phenotypes (HPO):
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
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:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
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:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0006808
hpo_term: Cerebral hypomyelination
chpo_term: 脑髓鞘形成减少
id: HP:0006895
hpo_term: Lower limb hypertonia
chpo_term: 下肢肌张力增高
id: HP:0007153
hpo_term: Progressive extrapyramidal movement disorder
chpo_term: 进行性锥体外系功能障碍
id: HP:0007281
hpo_term: Developmental stagnation
chpo_term: 发育停滞
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002506
hpo_term: Diffuse cerebral atrophy
chpo_term: 弥漫性脑萎缩
id: HP:0007024
hpo_term: Pseudobulbar paralysis
chpo_term: 假性球麻痹
id: HP:0007179
hpo_term: Absent smooth pursuit
chpo_term: 平滑追视缺失
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
Disease (ORPHA:35708):
Aromatic L-amino acid decarboxylase deficiency
AADC deficiency

Associated phenotypes (HPO):
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003785
hpo_term: Decreased CSF homovanillic acid concentration
chpo_term: 脑脊液高香草酸水平降低
id: HP:0025455
hpo_term: Decreased CSF 5-hydroxyindolacetic acid
chpo_term: 脑脊液中5-羟基吲哚乙酸下降
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
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: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:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0010553
hpo_term: Oculogyric crisis
chpo_term: 动眼神经危象
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000616
hpo_term: Miosis
chpo_term: 瞳孔缩小
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001742
hpo_term: Nasal congestion
chpo_term: 鼻塞
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002375
hpo_term: Hypokinesia
chpo_term: 运动减少
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0034392
hpo_term: Joint contracture
chpo_term: 关节挛缩
Disease (ORPHA:1752):
Trisomy 8q syndrome
Duplication 8q

Associated phenotypes (HPO):
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002916
hpo_term: Abnormality of chromosome segregation
chpo_term: 染色体分离异常
id: HP:0010751
hpo_term: Dimple chin
chpo_term: 下巴浅凹
id: HP:0100818
hpo_term: Long thorax
chpo_term: 长胸廓
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
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:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0010297
hpo_term: Bifid tongue
chpo_term: 舌裂
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
id: HP:0100627
hpo_term: Displacement of the urethral meatus
chpo_term: 尿道外口异位
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0006191
hpo_term: Deep palmar crease
chpo_term: 掌褶纹深
id: HP:0012062
hpo_term: Bone cyst
chpo_term: 骨囊肿
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:35710):
Glucose-galactose malabsorption
SGLT1 deficiency

Associated phenotypes (HPO):
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0033310
hpo_term: Osmotic diarrhea
chpo_term: 渗透性腹泻
id: HP:0003228
hpo_term: Hypernatremia
chpo_term: 高钠血症
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0030143
hpo_term: Hyperactive bowel sounds
chpo_term: 肠鸣音亢进
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
Disease (ORPHA:1759):
Thoraco-abdominal enteric duplication

Associated phenotypes (HPO):
id: HP:0000921
hpo_term: Missing ribs
chpo_term: 肋骨缺失
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0001702
hpo_term: Abnormal tricuspid valve morphology
chpo_term: 三尖瓣形态异常
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002435
hpo_term: Meningocele
chpo_term: 脑脊膜膨出
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100555
hpo_term: Asymmetric growth
chpo_term: 不对称生长
id: HP:0100563
hpo_term: Diastomatomyelia
chpo_term: 脊髓纵裂
id: HP:0100867
hpo_term: Duodenal stenosis
chpo_term: 十二指肠狭窄
Disease (ORPHA:1757):
Leg duplication-mirror foot syndrome
Fibular dimelia-diplopodia syndrome

Associated phenotypes (HPO):
id: HP:0009556
hpo_term: Absent tibia
chpo_term: 胫骨缺如
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0030736
hpo_term: Sacrococcygeal teratoma
chpo_term: 骶尾部畸胎瘤