TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:614675):
Bone marrow failure syndrome 1
BONE MARROW FAILURE SYNDROME 1

Associated phenotypes (HPO):
id: HP:0001915
hpo_term: Aplastic anemia
chpo_term: 再生障碍性贫血
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619351):
MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2

Associated phenotypes (HPO):
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
id: HP:0000021
hpo_term: Megacystis
chpo_term: 巨膀胱症
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0010956
hpo_term: Fetal megacystis
chpo_term: 胎儿巨膀胱症
id: HP:0004388
hpo_term: Microcolon
chpo_term: 细小结肠
id: HP:0002780
hpo_term: Bronchomalacia
chpo_term: 支气管软化
id: HP:0012727
hpo_term: Thoracic aortic aneurysm
chpo_term: 胸主动脉瘤
id: HP:0004890
hpo_term: Elevated pulmonary artery pressure
chpo_term: 肺动脉压升高
id: HP:0004392
hpo_term: Prune belly
chpo_term: 梅干腹
id: HP:0011499
hpo_term: Mydriasis
chpo_term: 瞳孔散大
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0011102
hpo_term: Ileal atresia
chpo_term: 回肠闭锁
id: HP:0012330
hpo_term: Pyelonephritis
chpo_term: 肾盂肾炎
id: HP:0033132
hpo_term: Renal cortical hyperechogenicity
chpo_term: 肾皮质回声增强
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0012383
hpo_term: Bidirectional shunt
chpo_term: 双向分流
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0100519
hpo_term: Anuria
chpo_term: 无尿症
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0004887
hpo_term: Respiratory failure requiring assisted ventilation
chpo_term: 呼吸衰竭，需要辅助通气
Disease (OMIM:151600):
Nail disorder, nonsyndromic congenital, 3
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3

Associated phenotypes (HPO):
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0011121
hpo_term: Abnormality of skin morphology
chpo_term: 皮肤形态异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001598
hpo_term: Concave nail
chpo_term: 反甲
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001820
hpo_term: Leukonychia
chpo_term: 白甲
Disease (OMIM:183020):
Spinal muscular atrophy, segmental
SPINAL MUSCULAR ATROPHY, SEGMENTAL

Associated phenotypes (HPO):
id: HP:0006802
hpo_term: Abnormal anterior horn cell morphology
chpo_term: 脊髓前角细胞形态异常
id: HP:0009130
hpo_term: Hand muscle atrophy
chpo_term: 手部肌肉萎缩
id: HP:0009037
hpo_term: Segmental spinal muscular atrophy
chpo_term: 节段性脊髓性肌萎缩
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618729):
LIANG-WANG SYNDROME
Liang-Wang syndrome

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000485
hpo_term: Megalocornea
chpo_term: 巨角膜
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000675
hpo_term: Macrodontia of permanent maxillary central incisor
chpo_term: 上颌恒中切牙巨齿
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0000699
hpo_term: Diastema
chpo_term: 牙间隙
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:600166):
HYPERPARATHYROIDISM, PRIMARY, CAUSED BY WATER CLEAR CELL HYPERPLASIA
Hyperparathyroidism, primary, caused by water clear cell hyperplasia

Associated phenotypes (HPO):
id: HP:0008200
hpo_term: Primary hyperparathyroidism
chpo_term: 原发性甲状旁腺功能亢进症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619437):
IMMUNODEFICIENCY 84
Immunodeficiency 84

Associated phenotypes (HPO):
id: HP:0020072
hpo_term: Persistent EBV viremia
chpo_term: 持续性EBV病毒血症
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0012191
hpo_term: B-cell lymphoma
chpo_term: B细胞淋巴瘤
id: HP:0009789
hpo_term: Perianal abscess
chpo_term: 肛周脓肿
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
Disease (OMIM:118200):
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B
Charcot-Marie-Tooth disease, type 1B

Associated phenotypes (HPO):
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0001178
hpo_term: Ulnar claw
chpo_term: 尺侧爪形手
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0012074
hpo_term: Tonic pupil
chpo_term: 瞳孔强直
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003449
hpo_term: Cold-induced muscle cramps
chpo_term: 冷刺激引起的肌肉痉挛
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0004336
hpo_term: Myelin outfoldings
chpo_term: 髓鞘外折
id: HP:0003587
hpo_term: Insidious onset
chpo_term: 隐袭发病
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003383
hpo_term: Onion bulb formation
chpo_term: 洋葱球形成
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0003382
hpo_term: Hypertrophic nerve changes
chpo_term: 肥厚性神经改变
id: HP:0003380
hpo_term: Decreased number of peripheral myelinated nerve fibers
chpo_term: 周围有髓神经纤维数量减少
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:107320):
Antiphospholipid syndrome, familial
ANTIPHOSPHOLIPID SYNDROME, FAMILIAL

Associated phenotypes (HPO):
id: HP:0025342
hpo_term: Central retinal artery occlusion
chpo_term: 视网膜中央动脉闭塞
id: HP:0025188
hpo_term: Retinal vasculitis
chpo_term: 视网膜血管炎
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0001101
hpo_term: Iritis
chpo_term: 虹膜炎
id: HP:0004420
hpo_term: Arterial thrombosis
chpo_term: 动脉血栓形成
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0025343
hpo_term: Lupus anticoagulant
chpo_term: 狼疮抗凝剂
id: HP:0011531
hpo_term: Vitritis
chpo_term: 玻璃体炎
id: HP:0100532
hpo_term: Scleritis
chpo_term: 巩膜炎
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
Disease (OMIM:239510):
HYPERPROLINEMIA, TYPE II
Hyperprolinemia, type II

Associated phenotypes (HPO):
id: HP:0003137
hpo_term: Prolinuria
chpo_term: 脯氨酸尿
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:6000620
id: HP:6000694
id: HP:6000695
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008358
hpo_term: Hyperprolinemia
chpo_term: 高脯氨酸血症
id: HP:0003080
hpo_term: Hydroxyprolinuria
chpo_term: 羟脯氨酸尿症
id: HP:0003108
hpo_term: Hyperglycinuria
chpo_term: 高甘氨酸尿症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:612562):
DIAMOND-BLACKFAN ANEMIA 7
Diamond-Blackfan anemia 7

Associated phenotypes (HPO):
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0010487
hpo_term: Small hypothenar eminence
chpo_term: 小鱼际小
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000912
hpo_term: Sprengel anomaly
chpo_term: 先天性肩胛骨向上移位（Sprengel畸形）
id: HP:0025116
hpo_term: Fetal distress
chpo_term: 胎儿窘迫
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001684
hpo_term: Secundum atrial septal defect
chpo_term: 第二房间隔缺损
id: HP:0100512
hpo_term: Low levels of vitamin D
chpo_term: 维生素D缺乏症
id: HP:0100633
hpo_term: Esophagitis
chpo_term: 食管炎
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0005518
hpo_term: Increased mean corpuscular volume
chpo_term: 平均红细胞体积增加
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001972
hpo_term: Macrocytic anemia
chpo_term: 大细胞性贫血
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:602771):
Rigid spine muscular dystrophy 1
RIGID SPINE MUSCULAR DYSTROPHY 1

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0005991
hpo_term: Limited neck flexion
chpo_term: 颈部屈曲受限
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0100297
hpo_term: Increased endomysial connective tissue
chpo_term: 肌内膜结缔组织增加
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001547
hpo_term: Abnormal rib cage morphology
chpo_term: 胸廓形态异常
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0003327
hpo_term: Axial muscle weakness
chpo_term: 中轴肌无力
id: HP:0003789
hpo_term: Minicore myopathy
chpo_term: 小核肌病
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0002877
hpo_term: Nocturnal hypoventilation
chpo_term: 夜间低通气
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0003787
hpo_term: Type 1 and type 2 muscle fiber minicore regions
chpo_term: 1 型和 2 型肌纤维微核心区域
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0003722
hpo_term: Neck flexor weakness
chpo_term: 颈屈肌无力
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0002792
hpo_term: Reduced vital capacity
chpo_term: 肺活量减少
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
Disease (OMIM:614113):
MENTAL RETARDATION, AUTOSOMAL DOMINANT 2
Mental retardation, autosomal dominant 2

Associated phenotypes (HPO):
id: HP:0001212
hpo_term: Prominent fingertip pads
chpo_term: 指尖垫突出
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0009797
hpo_term: Cholesteatoma
chpo_term: 胆脂瘤
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613697):
Cardiomyopathy, dilated, 1V
CARDIOMYOPATHY, DILATED, 1V

Associated phenotypes (HPO):
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0011705
hpo_term: First degree atrioventricular block
chpo_term: 一度房室传导阻滞
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0011713
hpo_term: Left bundle branch block
chpo_term: 左束支传导阻滞
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0033755
hpo_term: Increased left ventricular end-diastolic volume
chpo_term: 左心室舒张末期容量增大
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
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:0025710
hpo_term: Late young adult onset
chpo_term: 青年成人晚期起病
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:616937):
THROMBOCYTOPENIA 6
Thrombocytopenia 6

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002003
hpo_term: Large forehead
chpo_term: 大额头
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0031020
hpo_term: Bone marrow hypercellularity
chpo_term: 骨髓细胞过多
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0004406
hpo_term: Spontaneous, recurrent epistaxis
chpo_term: 复发性自发鼻衄
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0011974
hpo_term: Myelofibrosis
chpo_term: 骨髓纤维化
Disease (OMIM:617397):
PSEUDO-TORCH SYNDROME 2
Pseudo-Torch syndrome 2

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0025116
hpo_term: Fetal distress
chpo_term: 胎儿窘迫
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0001684
hpo_term: Secundum atrial septal defect
chpo_term: 第二房间隔缺损
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0033677
hpo_term: Acute respiratory distress syndrome
chpo_term: 急性呼吸窘迫综合征
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0005932
hpo_term: Abnormal renal corticomedullary differentiation
chpo_term: 肾皮髓质分界异常
Disease (OMIM:129750):
ECTOPIA PUPILLAE
Ectopia pupillae

Associated phenotypes (HPO):
id: HP:0009918
hpo_term: Ectopia pupillae
chpo_term: 瞳孔异位
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614846):
TETRASOMY 15q26
Tetrasomy 15q26

Associated phenotypes (HPO):
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0012304
hpo_term: Hypoplastic aortic arch
chpo_term: 主动脉弓发育不全
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
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:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:257550):
OCULAR MOTOR APRAXIA
Ocular motor apraxia

Associated phenotypes (HPO):
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008026
hpo_term: Horizontal opticokinetic nystagmus
chpo_term: 水平性视动性眼球震颤
id: HP:0000090
hpo_term: Nephronophthisis
chpo_term: 肾结核
id: HP:0006961
hpo_term: Jerky head movements
chpo_term: 抽动样头部运动
Disease (OMIM:220900):
DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM
Deafness, congenital, with total albinism

Associated phenotypes (HPO):
id: HP:0001022
hpo_term: Albinism
chpo_term: 白化病
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:614852):
Microcephaly 9, primary, autosomal recessive
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0001335
hpo_term: Bimanual synkinesia
chpo_term: 双手联带运动
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
id: HP:0100034
hpo_term: Motor tics
chpo_term: 运动抽动
Disease (OMIM:617383):
Avascular necrosis of femoral head, primary, 2
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2

Associated phenotypes (HPO):
id: HP:0005743
hpo_term: Avascular necrosis of the capital femoral epiphysis
chpo_term: 股骨头骨骺缺血性坏死
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:176240):
Postaxial oligodactyly, tetramelic
POSTAXIAL OLIGODACTYLY, TETRAMELIC

Associated phenotypes (HPO):
id: HP:0006209
hpo_term: Partial-complete absence of 5th phalanges
chpo_term: 第五指指骨部分或完全缺如
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0008079
hpo_term: Absent fifth metatarsal
chpo_term: 第五跖骨缺失
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0004251
hpo_term: Lunate-triquetral fusion
chpo_term: 月骨-三角骨融合
id: HP:0006210
hpo_term: Postaxial oligodactyly
chpo_term: 轴后少指（趾）
id: HP:0010046
hpo_term: Aplasia of the 5th metacarpal
chpo_term: 第五掌骨发育不全
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0010579
hpo_term: Cone-shaped epiphysis
chpo_term: 锥形骨骺
Disease (OMIM:156190):
MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA
Mental and growth retardation with amblyopia

Associated phenotypes (HPO):
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:601287):
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6
Muscular dystrophy, limb-girdle, type 2F

Associated phenotypes (HPO):
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007126
hpo_term: Proximal amyotrophy
chpo_term: 近端肌萎缩
id: HP:0001714
hpo_term: Ventricular hypertrophy
chpo_term: 心室肥厚
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力