TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:607091):
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId
Congenital disorder of glycosylation, type IID

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:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
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:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003160
hpo_term: Abnormal isoelectric focusing of serum transferrin
chpo_term: 血清转铁蛋白的等电位聚焦异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
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:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
Disease (OMIM:164745):
OMODYSPLASIA 2
Omodysplasia 2

Associated phenotypes (HPO):
id: HP:0000066
hpo_term: Labial hypoplasia
chpo_term: 阴唇发育不良
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0030016
hpo_term: Dyspareunia
chpo_term: 性交疼痛
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001076
hpo_term: Glabellar hemangioma
chpo_term: 眉间血管瘤
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0000060
hpo_term: Clitoral hypoplasia
chpo_term: 阴蒂发育不良
id: HP:0010034
hpo_term: Short 1st metacarpal
chpo_term: 第一掌骨短
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0006376
hpo_term: Limited elbow flexion
chpo_term: 屈肘受限
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000456
hpo_term: Bifid nasal tip
chpo_term: 鼻尖裂
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0003762
hpo_term: Uterus didelphys
chpo_term: 双子宫
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0005025
hpo_term: Hypoplastic distal humeri
chpo_term: 肱骨远端发育不良
id: HP:0004573
hpo_term: Anterior wedging of T11
chpo_term: 胸11椎体前部楔形
id: HP:0004991
hpo_term: Rhizomelic arm shortening
chpo_term: 肢根型手臂缩短
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005060
hpo_term: Limited elbow flexion/extension
chpo_term: 肘关节屈曲/扩展受限
id: HP:0100336
hpo_term: Bilateral cleft lip
chpo_term: 双侧唇裂
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:208155):
ILLUM SYNDROME
Arthrogryposis multiplex congenita with whistling face

Associated phenotypes (HPO):
id: HP:0003761
hpo_term: Calcinosis
chpo_term: 钙质沉着
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0003781
hpo_term: Excessive salivation
chpo_term: 唾液分泌过多
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0005968
hpo_term: Temperature instability
chpo_term: 体温不稳定
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0000346
hpo_term: Whistling appearance
chpo_term: 吹口哨面容
Disease (OMIM:615481):
Ciliary dyskinesia, primary, 24
CILIARY DYSKINESIA, PRIMARY, 24

Associated phenotypes (HPO):
id: HP:0012265
hpo_term: Ciliary dyskinesia
chpo_term: 纤毛运动异常
id: HP:0002257
hpo_term: Chronic rhinitis
chpo_term: 慢性鼻炎
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0012263
hpo_term: Immotile cilia
chpo_term: 不动纤毛
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0033036
hpo_term: Decreased nasal nitric oxide
chpo_term: 鼻腔一氧化氮减低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0006510
hpo_term: Chronic pulmonary obstruction
chpo_term: 慢性阻塞性肺疾病
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
Disease (OMIM:614947):
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
Combined oxidative phosphorylation deficiency 15

Associated phenotypes (HPO):
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0005943
hpo_term: Respiratory arrest
chpo_term: 呼吸骤停
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0030765
hpo_term: Sleep terror
chpo_term: 睡惊症
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0005144
hpo_term: Ventricular septal hypertrophy
chpo_term: 室间隔肥厚
id: HP:0005165
hpo_term: Shortened PR interval
chpo_term: PR间期缩短
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0011923
hpo_term: Decreased activity of mitochondrial complex I
chpo_term: 线粒体复合物I活性降低
id: HP:0001716
hpo_term: Wolff-Parkinson-White syndrome
chpo_term: 预激综合征
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0008347
hpo_term: Decreased activity of mitochondrial complex IV
chpo_term: 线粒体复合物IV活性降低
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:617296):
Spastic paraplegia, intellectual disability, nystagmus, and obesity
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY

Associated phenotypes (HPO):
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0001093
hpo_term: Optic nerve dysplasia
chpo_term: 视神经发育不良
id: HP:0007082
hpo_term: Dilated third ventricle
chpo_term: 第三脑室扩张
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0006895
hpo_term: Lower limb hypertonia
chpo_term: 下肢肌张力增高
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0025335
hpo_term: Delayed ability to stand
chpo_term: 站立能力延迟
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:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0001338
hpo_term: Partial agenesis of the corpus callosum
chpo_term: 局部胼胝体发育不全
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
Disease (OMIM:307500):
Hypogonadism, male, with mental retardation and skeletal anomalies
HYPOGONADISM, MALE, WITH MENTAL RETARDATION AND SKELETAL ANOMALIES

Associated phenotypes (HPO):
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0005820
hpo_term: Superior rib anomalies
chpo_term: 高位肋骨畸形
id: HP:0000815
hpo_term: Hypergonadotropic hypogonadism
chpo_term: 高促性腺激素性性腺功能减退症
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0003319
hpo_term: Abnormality of the cervical spine
chpo_term: 颈椎异常
id: HP:0000026
hpo_term: Male hypogonadism
chpo_term: 男性性腺功能减退症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001952
hpo_term: Glucose intolerance
chpo_term: 糖耐量异常
Disease (OMIM:130300):
ELECTROENCEPHALOGRAPHIC PECULIARITY: FRONTO-PRECENTRAL BETA WAVE GROUPS
Electroencephalographic peculiarity: fronto-precentral beta wave groups

Associated phenotypes (HPO):
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616188):
RETINAL DYSTROPHY AND OBESITY
Retinal dystrophy and obesity

Associated phenotypes (HPO):
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0032027
hpo_term: Retinal dots
chpo_term: 点状视网膜病变
id: HP:0500087
hpo_term: Peripapillary atrophy
chpo_term: 视乳头周围萎缩
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0007722
hpo_term: Retinal pigment epithelial atrophy
chpo_term: 视网膜色素上皮萎缩
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
Disease (OMIM:179700):
Red cell phospholipid defect with hemolysis
RED CELL PHOSPHOLIPID DEFECT WITH HEMOLYSIS

Associated phenotypes (HPO):
id: HP:0001046
hpo_term: Intermittent jaundice
chpo_term: 间歇性黄疸
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
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:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
Disease (OMIM:603585):
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf
Congenital disorder of glycosylation, type IIf

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0040185
hpo_term: Macrothrombocytopenia
chpo_term: 巨血小板减少症
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002310
hpo_term: Orofacial dyskinesia
chpo_term: 口面运动障碍
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
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:0031156
hpo_term: Decreased platelet glycoprotein Ib
chpo_term: 血小板膜上糖蛋白Ib减少
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0040223
hpo_term: Pulmonary hemorrhage
chpo_term: 肺出血
id: HP:0001933
hpo_term: Subcutaneous hemorrhage
chpo_term: 皮下出血
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:613796):
IMMUNODEFICIENCY 31B
Mycobacterial and viral infections, susceptibility to, autosomal recessive

Associated phenotypes (HPO):
id: HP:0011274
hpo_term: Recurrent mycobacterial infections
chpo_term: 反复分枝杆菌感染
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0012302
hpo_term: Herpes simplex encephalitis
chpo_term: 单纯疱疹病毒性脑炎
Disease (OMIM:134600):
Fanconi renotubular syndrome 1
FANCONI RENOTUBULAR SYNDROME 1

Associated phenotypes (HPO):
id: HP:0003126
hpo_term: Low-molecular-weight proteinuria
chpo_term: 低分子量蛋白尿
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0034359
hpo_term: Impaired renal tubular reabsorption of phosphate
chpo_term: 肾小管对磷酸盐的重吸收功能受损
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0003648
hpo_term: Lacticaciduria
chpo_term: 乳酸血症
id: HP:0003109
hpo_term: Hyperphosphaturia
chpo_term: 高磷酸盐尿症
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000124
hpo_term: Renal tubular dysfunction
chpo_term: 肾小管功能障碍
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
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
Disease (OMIM:612463):
PSEUDOPSEUDOHYPOPARATHYROIDISM
Pseudopseudohypoparathyroidism

Associated phenotypes (HPO):
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
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:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000852
hpo_term: Pseudohypoparathyroidism
chpo_term: 假性甲状旁腺功能减退症
Disease (OMIM:153670):
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
Bernard-Soulier syndrome, type A2, autosomal dominant

Associated phenotypes (HPO):
id: HP:0004446
hpo_term: Stomatocytosis
chpo_term: 口形红细胞增多症
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0031364
hpo_term: Ecchymosis
chpo_term: 瘀斑
id: HP:0011877
hpo_term: Increased mean platelet volume
chpo_term: 平均血小板体积增大
id: HP:0031128
hpo_term: Impaired collagen-related peptide-induced platelet aggregation
chpo_term: 胶原相关肽诱导的血小板凝集受损
id: HP:0011871
hpo_term: Impaired ristocetin-induced platelet aggregation
chpo_term: 瑞斯托菌素诱导的血小板聚集受损
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0006298
hpo_term: Prolonged bleeding after dental extraction
chpo_term: 拔牙后出血时间延长
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 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:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0004866
hpo_term: Impaired ADP-induced platelet aggregation
chpo_term: ADP诱导的血小板聚集障碍
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
Disease (OMIM:601379):
HUNTER-MCALPINE CRANIOSYNOSTOSIS SYNDROME
Hunter-Mcalpine craniosynostosis syndrome

Associated phenotypes (HPO):
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0007874
hpo_term: Almond-shaped palpebral fissure
chpo_term: 杏仁状睑裂
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
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:308800):
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED
Keratosis follicularis spinulosa decalvans, X-linked

Associated phenotypes (HPO):
id: HP:0001041
hpo_term: Facial erythema
chpo_term: 面部红斑
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0004552
hpo_term: Scarring alopecia of scalp
chpo_term: 头皮瘢痕性脱发
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0025084
hpo_term: Folliculitis
chpo_term: 毛囊炎
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0008391
hpo_term: Dystrophic fingernails
chpo_term: 指甲营养不良
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0032152
hpo_term: Keratosis pilaris
chpo_term: 毛囊角化症
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0030054
hpo_term: Perifollicular fibrosis
chpo_term: 毛囊周围纤维化
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0007502
hpo_term: Follicular hyperkeratosis
chpo_term: 克尔里病，贯穿性角化过度病
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
Disease (OMIM:264070):
Hyperphenylalaninemia, BH4-deficient, D
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0008297
hpo_term: Transient hyperphenylalaninemia
chpo_term: 短暂性高苯丙氨酸血症
id: HP:0033594
hpo_term: Elevated urinary 7-biopterin level
chpo_term: 尿7-生物蝶呤水平升高
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0004923
hpo_term: Hyperphenylalaninemia
chpo_term: 高苯丙氨酸血症
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:609057):
Nephropathy with pretibial epidermolysis bullosa and deafness
NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0012221
hpo_term: Pretibial blistering
chpo_term: 胫前起疱
id: HP:0000123
hpo_term: Nephritis
chpo_term: 肾炎
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0033485
hpo_term: Glomerular basement membrane disruption
chpo_term: 肾小球基底膜破裂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0007678
hpo_term: Lacrimal duct stenosis
chpo_term: 泪道狭窄
id: HP:0004722
hpo_term: Thickened glomerular basement membrane
chpo_term: 肾小球基底膜增厚