TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:606812):
FUMARASE DEFICIENCY
Fumarase deficiency

Associated phenotypes (HPO):
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0030774
hpo_term: Mitochondrial swelling
chpo_term: 线粒体肿胀
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011682
hpo_term: Perimembranous ventricular septal defect
chpo_term: 膜周型室间隔缺损
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0007620
hpo_term: Cutaneous leiomyoma
chpo_term: 皮肤平滑肌瘤
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001406
hpo_term: Intrahepatic cholestasis
chpo_term: 肝内胆汁淤积
id: HP:0001901
hpo_term: Polycythemia
chpo_term: 红细胞增多症
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0033092
hpo_term: Increased urine succinate level
chpo_term: 尿琥珀酸水平升高
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
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:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002190
hpo_term: Choroid plexus cyst
chpo_term: 脉络丛囊肿
id: HP:0032106
hpo_term: Conjunctival icterus
chpo_term: 结膜黄疸
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0011129
hpo_term: Bilateral fetal pyelectasis
chpo_term: 胎儿双侧肾盂扩张
id: HP:0034648
id: HP:0033165
hpo_term: Necrotizing enterocolitis
chpo_term: 坏死性小肠结肠炎
id: HP:0034198
hpo_term: Second trimester onset
chpo_term: 孕中期起病
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0100954
hpo_term: Open operculum
chpo_term: 岛盖张开
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0003536
hpo_term: Decreased fumarate hydratase activity
chpo_term: 延胡索酸水解酶活性降低
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
Disease (OMIM:257100):
NEUTROPENIA, LETHAL CONGENITAL, WITH EOSINOPHILIA
Neutropenia, lethal congenital, with eosinophilia

Associated phenotypes (HPO):
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:120330):
Papillorenal syndrome
PAPILLORENAL SYNDROME

Associated phenotypes (HPO):
id: HP:0030854
hpo_term: Scleral staphyloma
chpo_term: 巩膜葡萄肿
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000480
hpo_term: Retinal coloboma
chpo_term: 视网膜缺损
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0012595
hpo_term: Mild proteinuria
chpo_term: 轻度蛋白尿
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0025514
hpo_term: Morning glory anomaly
chpo_term: 牵牛花样视盘发育异常
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000977
hpo_term: Soft skin
chpo_term: 皮肤柔软
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0004712
hpo_term: Renal malrotation
chpo_term: 肾旋转不良
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
id: HP:0011509
hpo_term: Macular hyperpigmentation
chpo_term: 黄斑色素沉着
id: HP:0001144
hpo_term: Orbital cyst
chpo_term: 眼眶囊肿
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0005564
hpo_term: Absence of renal corticomedullary differentiation
chpo_term: 肾皮髓质分界消失
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0012019
hpo_term: Lens luxation
chpo_term: 晶状体脱位
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
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:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000588
hpo_term: Optic disc coloboma
chpo_term: 视盘缺损
Disease (OMIM:253400):
Spinal muscular atrophy, type III
SPINAL MUSCULAR ATROPHY, TYPE III

Associated phenotypes (HPO):
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:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0002378
hpo_term: Hand tremor
chpo_term: 手部震颤
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0008946
hpo_term: Pelvic girdle amyotrophy
chpo_term: 骨盆带肌萎缩
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002398
hpo_term: Degeneration of anterior horn cells
chpo_term: 前角细胞变性
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0003749
hpo_term: Pelvic girdle muscle weakness
chpo_term: 骨盆带肌无力
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007289
hpo_term: Limb fasciculations
chpo_term: 肢体肌束颤动
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0007269
hpo_term: Spinal muscular atrophy
chpo_term: 脊肌萎缩
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003547
hpo_term: Shoulder girdle muscle weakness
chpo_term: 肩胛带肌肉无力
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0003724
hpo_term: Shoulder girdle muscle atrophy
chpo_term: 肩胛带肌肉萎缩
id: HP:0008956
hpo_term: Proximal lower limb amyotrophy
chpo_term: 下肢近端肌肉萎缩
id: HP:0006844
hpo_term: Absent patellar reflexes
chpo_term: 膝反射消失
Disease (OMIM:618386):
Amelogenesis imperfecta, type IIIC
AMELOGENESIS IMPERFECTA, TYPE IIIC

Associated phenotypes (HPO):
id: HP:0011084
hpo_term: Hypocalcification of dental enamel
chpo_term: 牙釉质钙化不全
id: HP:0000705
hpo_term: Amelogenesis imperfecta
chpo_term: 牙釉质生长不全
id: HP:0009102
hpo_term: Anterior open-bite malocclusion
chpo_term: 前牙开咬错位咬合畸形
id: HP:0006286
hpo_term: Yellow-brown discoloration of the teeth
chpo_term: 棕黄色牙
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:619073):
VITAMIN D-DEPENDENT RICKETS, TYPE 3
Vitamin d-dependent rickets, type 3

Associated phenotypes (HPO):
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0003165
hpo_term: Elevated circulating parathyroid hormone level
chpo_term: 血甲状旁腺激素水平升高
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0003021
hpo_term: Metaphyseal cupping
chpo_term: 干骺端内陷
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0012052
hpo_term: Low serum calcitriol
chpo_term: 低血清骨化三醇（1,25-二羟基胆钙化醇）
id: HP:0012053
hpo_term: Decreased circulating calcifediol concentration
chpo_term: 低血清骨化二醇（25-羟基胆钙化醇）
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
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:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
Disease (OMIM:616340):
Deafness, autosomal dominant 67
DEAFNESS, AUTOSOMAL DOMINANT 67

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:609260):
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
Charcot-marie-tooth disease, axonal, type 2A2A

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0003378
hpo_term: Axonal degeneration/regeneration
chpo_term: 轴索变性/再生
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
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:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
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:0003448
hpo_term: Decreased sensory nerve conduction velocity
chpo_term: 感觉神经传导速度降低
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
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:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
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:0003384
hpo_term: Peripheral axonal atrophy
chpo_term: 外围神经轴索萎缩
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:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
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
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:612126):
Glut1 deficiency syndrome 2
GLUT1 DEFICIENCY SYNDROME 2

Associated phenotypes (HPO):
id: HP:0020181
hpo_term: Reduced haptoglobin level
chpo_term: 结合珠蛋白水平降低
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
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:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0011972
hpo_term: Hypoglycorrhachia
chpo_term: 脑脊液糖减低
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
Disease (OMIM:615649):
DEAFNESS, AUTOSOMAL DOMINANT 54
Deafness, autosomal dominant 54

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614557):
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0031649
hpo_term: Aortic rupture
chpo_term: 主动脉破裂
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0430047
id: HP:0430046
id: HP:0000185
hpo_term: Cleft soft palate
chpo_term: 软腭裂
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0034361
hpo_term: Redundant umbilical skin
chpo_term: 脐部皮肤过多
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0000977
hpo_term: Soft skin
chpo_term: 皮肤柔软
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0000015
hpo_term: Bladder diverticulum
chpo_term: 膀胱憩室
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0007502
hpo_term: Follicular hyperkeratosis
chpo_term: 克尔里病，贯穿性角化过度病
id: HP:0000410
hpo_term: Mixed hearing impairment
chpo_term: 混合性听力损失
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003467
hpo_term: Atlantoaxial instability
chpo_term: 寰枢椎不稳
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0001757
hpo_term: High-frequency sensorineural hearing impairment
chpo_term: 高频感音神经性听力障碍
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (OMIM:211800):
Calcification of joints and arteries
CALCIFICATION OF JOINTS AND ARTERIES

Associated phenotypes (HPO):
id: HP:0005645
hpo_term: Intervertebral disk calcification
chpo_term: 椎间盘钙化
id: HP:0001717
hpo_term: Coronary artery calcification
chpo_term: 冠状动脉钙化
id: HP:0025477
hpo_term: Periarticular calcification
chpo_term: 关节周围钙化
id: HP:0011986
hpo_term: Ectopic ossification
chpo_term: 异位性骨化
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004417
hpo_term: Intermittent claudication
chpo_term: 间歇性跛行
id: HP:0031303
hpo_term: Femoral arterial calcification
chpo_term: 股动脉钙化
id: HP:0031304
hpo_term: Iliac arterial calcification
chpo_term: 髂动脉钙化
id: HP:0031305
hpo_term: Tibial arterial calcification
chpo_term: 胫动脉钙化
Disease (DECIPHER:53):
Prader-Willi Syndrome (Type 2)

Associated phenotypes (HPO):
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 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:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
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:614231):
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
Microcephaly, epilepsy, and diabetes syndrome

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0012594
hpo_term: Moderate albuminuria
chpo_term: 微量白蛋白尿
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003241
hpo_term: External genital hypoplasia
chpo_term: 外生殖器发育不良
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
Disease (OMIM:300919):
MENTAL RETARDATION, X-LINKED 99
Mental retardation, X-linked 99

Associated phenotypes (HPO):
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
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:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0002779
hpo_term: Tracheomalacia
chpo_term: 气管软化
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:620194):
Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES

Associated phenotypes (HPO):
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0001847
hpo_term: Long hallux
chpo_term: 长拇趾
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001684
hpo_term: Secundum atrial septal defect
chpo_term: 第二房间隔缺损
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0430028
hpo_term: Hyperplasia of the maxilla
chpo_term: 上颌骨增生
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌