TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:2375):
Laryngeal abductor paralysis-intellectual disability syndrome
Plott syndrome

Associated phenotypes (HPO):
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0004886
hpo_term: Congenital laryngeal stridor
chpo_term: 先天性喉喘鸣
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0012768
hpo_term: Neonatal asphyxia
chpo_term: 新生儿窒息
Disease (ORPHA:2374):
Isolated congenital laryngeal web

Associated phenotypes (HPO):
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
Disease (ORPHA:2373):
Congenital laryngomalacia

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
Disease (ORPHA:319332):
Autosomal recessive myogenic arthrogryposis multiplex congenita
Autosomal recessive myogenic AMC
SYNE1-related arthrogryposis multiplex congenita
SYNE1-related AMC

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0008935
hpo_term: Generalized neonatal hypotonia
chpo_term: 全身性新生儿肌张力低下
id: HP:0030200
hpo_term: Fatiguable weakness of proximal limb muscles
chpo_term: 近端肢体肌肉疲劳性无力
id: HP:0430025
hpo_term: Bilateral facial palsy
chpo_term: 双侧面瘫
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
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:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0005191
hpo_term: Congenital knee dislocation
chpo_term: 先天性膝关节脱位
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0012785
hpo_term: Flexion contracture of finger
chpo_term: 手指屈曲挛缩
id: HP:0031729
hpo_term: Moderate hypermetropia
chpo_term: 中度远视
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0040081
hpo_term: Abnormal circulating creatine kinase concentration
chpo_term: 血液肌酸激酶水平异常
Disease (ORPHA:31824):
Colchicine poisoning

Associated phenotypes (HPO):
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001871
hpo_term: Abnormality of blood and blood-forming tissues
chpo_term: 血液和造血组织异常
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0002917
hpo_term: Hypomagnesemia
chpo_term: 低镁血症
id: HP:0003111
hpo_term: Abnormal blood ion concentration
chpo_term: 离子稳态平衡异常
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0004360
hpo_term: Abnormality of acid-base homeostasis
chpo_term: 酸碱平衡异常
id: HP:0004372
hpo_term: Reduced consciousness/confusion
chpo_term: 意识减弱/意识错乱
id: HP:0005521
hpo_term: Disseminated intravascular coagulation
chpo_term: 弥漫性血管内凝血
id: HP:0006543
hpo_term: Cardiorespiratory arrest
chpo_term: 心跳呼吸骤停
id: HP:0006846
hpo_term: Acute encephalopathy
chpo_term: 急性脑病
id: HP:0011106
hpo_term: Hypovolemia
chpo_term: 血容量不足
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
id: HP:0030149
hpo_term: Cardiogenic shock
chpo_term: 心源性休克
id: HP:0100520
hpo_term: Oliguria
chpo_term: 少尿症
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
Disease (ORPHA:363444):
BBIS
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Beaulieu-Boycott-Innes syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0040196
hpo_term: Mild microcephaly
chpo_term: 轻度小头畸形
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
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:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0006989
hpo_term: Dysplastic corpus callosum
chpo_term: 胼胝体发育异常
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012443
hpo_term: Abnormality of brain morphology
chpo_term: 脑形态学异常
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000215
hpo_term: Thick upper lip vermilion
chpo_term: 厚上红唇
id: HP:0000220
hpo_term: Velopharyngeal insufficiency
chpo_term: 腭咽机能不全
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
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:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0010282
hpo_term: Thin lower lip vermilion
chpo_term: 上红唇薄
id: HP:0011623
hpo_term: Muscular ventricular septal defect
chpo_term: 肌部室间隔缺损
id: HP:0011682
hpo_term: Perimembranous ventricular septal defect
chpo_term: 膜周型室间隔缺损
id: HP:0012382
hpo_term: Left-to-right shunt
chpo_term: 左向右分流
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0030127
hpo_term: Endometriosis
chpo_term: 子宫内膜异位症
Disease (ORPHA:538934):
X-linked lymphoproliferative syndrome type 2
XIAP deficiency syndrome
XLP2
X-linked lymphoproliferative disease due to XIAP deficiency

Associated phenotypes (HPO):
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0005229
hpo_term: Jejunoileal ulceration
chpo_term: 空回肠溃疡
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0034799
id: HP:0100280
hpo_term: Crohn's disease
chpo_term: 克罗恩氏病
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000123
hpo_term: Nephritis
chpo_term: 肾炎
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0012219
hpo_term: Erythema nodosum
chpo_term: 结节性红斑
id: HP:0030151
hpo_term: Cholangitis
chpo_term: 胆管炎
id: HP:0031292
hpo_term: Cutaneous abscess
chpo_term: 皮肤脓肿
id: HP:0031693
hpo_term: Severe Epstein Barr virus infection
chpo_term: 重症EB病毒感染
id: HP:0040218
hpo_term: Reduced natural killer cell count
chpo_term: 自然杀伤细胞数量减少
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
Disease (ORPHA:163727):
Rolandic epilepsy exercise-induced dystonia
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome

Associated phenotypes (HPO):
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0002268
hpo_term: Paroxysmal dystonia
chpo_term: 阵发性肌张力障碍
id: HP:0002356
hpo_term: Writer's cramp
chpo_term: 书写痉挛
id: HP:0007104
hpo_term: Prolonged somatosensory evoked potentials
chpo_term: 体感诱发电位潜伏期延长
id: HP:0007332
hpo_term: Focal hemifacial clonic seizure
chpo_term: 局灶性单侧面部阵挛发作
id: HP:0011295
hpo_term: EEG with parietal sharp waves
chpo_term: 脑电图，伴顶部尖波
id: HP:0012012
hpo_term: EEG with parietal focal spike waves
chpo_term: 脑电图，伴顶部局灶棘慢波
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
Disease (ORPHA:31825):
Methanol poisoning

Associated phenotypes (HPO):
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0030955
hpo_term: Alcoholism
chpo_term: 酗酒
id: HP:0031982
hpo_term: Abnormal putamen morphology
chpo_term: 壳核形态异常
id: HP:0000587
hpo_term: Abnormality of the optic nerve
chpo_term: 视神经异常
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
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:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
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:0002453
hpo_term: Abnormal globus pallidus morphology
chpo_term: 苍白球形态异常
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0007146
hpo_term: Bilateral basal ganglia lesions
chpo_term: 双侧基底节病变
id: HP:0012128
hpo_term: Basal ganglia necrosis
chpo_term: 基底节坏死
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0002339
hpo_term: Abnormal caudate nucleus morphology
chpo_term: 尾状核形态异常
id: HP:0004754
hpo_term: Permanent atrial fibrillation
chpo_term: 永久性心房颤动
id: HP:0005291
hpo_term: Inflammatory arteriopathy
chpo_term: 炎症性动脉病
id: HP:0031422
hpo_term: Abnormal cerebellar cortex morphology
chpo_term: 小脑皮质形态异常
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
Disease (ORPHA:31826):
Ethylene glycol poisoning

Associated phenotypes (HPO):
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0031844
hpo_term: Euphoria
chpo_term: 欣快症
id: HP:0031962
hpo_term: Elevated serum anion gap
chpo_term: 血清阴离子间隙升高
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001657
hpo_term: Prolonged QT interval
chpo_term: QT间期延长
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002793
hpo_term: Abnormal pattern of respiration
chpo_term: 呼吸模式异常
id: HP:0004885
hpo_term: Episodic respiratory distress
chpo_term: 阵发性呼吸窘迫
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0005263
hpo_term: Gastritis
chpo_term: 胃炎
id: HP:0007695
hpo_term: Abnormal pupillary light reflex
chpo_term: 瞳孔对光反射异常
id: HP:0030955
hpo_term: Alcoholism
chpo_term: 酗酒
id: HP:0031273
hpo_term: Shock
chpo_term: 休克
id: HP:0100598
hpo_term: Pulmonary edema
chpo_term: 肺水肿
id: HP:0000124
hpo_term: Renal tubular dysfunction
chpo_term: 肾小管功能障碍
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0002181
hpo_term: Cerebral edema
chpo_term: 脑水肿
id: HP:0008682
hpo_term: Renal tubular epithelial necrosis
chpo_term: 肾小管上皮细胞坏死
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0011037
hpo_term: Decreased urine output
chpo_term: 少尿
id: HP:0030157
hpo_term: Flank pain
chpo_term: 侧腹疼痛
id: HP:0031910
hpo_term: Abnormal cranial nerve physiology
chpo_term: 颅神经生理异常
Disease (ORPHA:563991):
Avascular necrosis of the tarsal bone
Osteochondrosis of the tarsal bone
Aseptic necrosis of the tarsal bone
Kohler disease

Associated phenotypes (HPO):
id: HP:0008131
hpo_term: Tarsal stippling
chpo_term: 跗骨点状钙化
id: HP:0008144
hpo_term: Flattening of the talar dome
chpo_term: 扁平的距骨圆顶
id: HP:0008369
hpo_term: Abnormal tarsal ossification
chpo_term: 跗骨骨化异常
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0025238
hpo_term: Foot pain
chpo_term: 足痛
id: HP:0030840
hpo_term: Ankle pain
chpo_term: 脚踝痛
id: HP:0031051
hpo_term: Tarsal sclerosis
chpo_term: 跗骨硬化
id: HP:0031955
hpo_term: Antalgic gait
chpo_term: 减痛步态
id: HP:0100662
hpo_term: Chondritis
chpo_term: 软骨炎
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0010886
hpo_term: Osteochondritis dissecans
chpo_term: 剥脱性骨软骨炎
id: HP:0100323
hpo_term: Juvenile aseptic necrosis
chpo_term: 青少年型无菌性坏死
Disease (ORPHA:2368):
Laparoschisis
Gastroschisis

Associated phenotypes (HPO):
id: HP:0001543
hpo_term: Gastroschisis
chpo_term: 腹裂
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0010881
hpo_term: Abnormality of the umbilical cord
chpo_term: 脐带异常
id: HP:0011432
hpo_term: High maternal circulating alpha-fetoprotein concentration
chpo_term: 母体循环甲胎蛋白水平高
id: HP:0034207
hpo_term: Abnormal fetal gastrointestinal system morphology
chpo_term: 胎儿消化系统形态异常
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:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0002580
hpo_term: Volvulus
chpo_term: 肠扭转
id: HP:0011100
hpo_term: Intestinal atresia
chpo_term: 肠闭锁
id: HP:0031368
hpo_term: Intestinal perforation
chpo_term: 肠穿孔
id: HP:0100016
hpo_term: Abnormality of mesentery morphology
chpo_term: 肠系膜形态异常
Disease (ORPHA:1035):
MCDU
Ampola syndrome
Beta-mercaptolactate cysteine disulfiduria
3-mercaptopyruvate sulfurtransferase deficiency

Associated phenotypes (HPO):
id: HP:0000069
hpo_term: Abnormality of the ureter
chpo_term: 输尿管异常
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
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:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
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:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
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:0100720
hpo_term: Hypoplasia of the ear cartilage
chpo_term: 耳软骨发育不全
Disease (ORPHA:2364):
Glycogen storage disease due to lactate dehydrogenase deficiency
LDH deficiency
Glycogenosis due to lactate dehydrogenase deficiency
GSD due to lactate dehydrogenase deficiency

Associated phenotypes (HPO):
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003542
hpo_term: Increased serum pyruvate
chpo_term: 血清丙酮酸增高
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0002913
hpo_term: Myoglobinuria
chpo_term: 肌红蛋白尿
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0009020
hpo_term: Exercise-induced muscle fatigue
chpo_term: 运动诱发的肌肉疲劳
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
Disease (ORPHA:1031):
Enamel-renal syndrome
Amelogenesis imperfecta-nephrocalcinosis syndrome

Associated phenotypes (HPO):
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000705
hpo_term: Amelogenesis imperfecta
chpo_term: 牙釉质生长不全
id: HP:0006286
hpo_term: Yellow-brown discoloration of the teeth
chpo_term: 棕黄色牙
id: HP:0011073
hpo_term: Abnormality of dental color
chpo_term: 牙齿颜色异常
id: HP:0031428
hpo_term: Increased circulating osteocalcin level
chpo_term: 循环骨钙素水平升高
id: HP:0100530
hpo_term: Abnormal calcium-phosphate regulating hormone level
chpo_term: 磷酸盐和钙的调节激素异常
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000805
hpo_term: Enuresis
chpo_term: 遗尿症
id: HP:0003127
hpo_term: Hypocalciuria
chpo_term: 低钙尿症
id: HP:0004727
hpo_term: Impaired renal concentrating ability
chpo_term: 肾浓缩功能障碍
id: HP:0012365
hpo_term: Hypophosphaturia
chpo_term: 低磷酸盐尿
Disease (ORPHA:284169):
Monosomy 10p11.21p12.31
Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion
Del(10)(p11.21p12.31)
10p12p11 microdeletion syndrome
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Deletion 10p11.21p12.31

Associated phenotypes (HPO):
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001714
hpo_term: Ventricular hypertrophy
chpo_term: 心室肥厚
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002608
hpo_term: Celiac disease
chpo_term: 乳糜泻
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:0010800
hpo_term: Absent cupid's bow
chpo_term: 上唇五丘比特弓
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0012443
hpo_term: Abnormality of brain morphology
chpo_term: 脑形态学异常
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
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:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
Disease (ORPHA:211067):
Episodic ataxia type 5

Associated phenotypes (HPO):
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
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:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕