TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:611637):
PRIMARY LATERAL SCLEROSIS, ADULT, 1
Primary lateral sclerosis, adult

Associated phenotypes (HPO):
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002464
hpo_term: Spastic dysarthria
chpo_term: 痉挛性构音障碍
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
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:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002127
hpo_term: Abnormal upper motor neuron morphology
chpo_term: 上运动神经元形态异常
Disease (OMIM:110000):
Blepharochalasis, superior
BLEPHAROCHALASIS, SUPERIOR

Associated phenotypes (HPO):
id: HP:0010749
hpo_term: Blepharochalasis
chpo_term: 眼皮松弛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616158):
Mental retardation, autosomal dominant 31
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31

Associated phenotypes (HPO):
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
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: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:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
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:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:615451):
CILIARY DYSKINESIA, PRIMARY, 23
Ciliary dyskinesia, primary, 23

Associated phenotypes (HPO):
id: HP:0200073
hpo_term: Respiratory insufficiency due to defective ciliary clearance
chpo_term: 纤毛清除缺陷所致呼吸功能不全
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:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0031245
hpo_term: Productive cough
chpo_term: 痰咳
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
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
id: HP:0004469
hpo_term: Chronic bronchitis
chpo_term: 慢性支气管炎
Disease (OMIM:312863):
COMBINED IMMUNODEFICIENCY, X-LINKED
Combined immunodeficiency, X-linked

Associated phenotypes (HPO):
id: HP:0005387
hpo_term: Combined immunodeficiency
chpo_term: 联合免疫缺陷
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011839
hpo_term: Abnormal T cell count
chpo_term: T细胞数量异常
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0010975
hpo_term: Abnormal B cell count
chpo_term: B细胞数量异常
id: HP:0032218
hpo_term: Decreased proportion of CD4-positive T cells
chpo_term: CD4+T细胞比例减低
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0040089
hpo_term: Abnormal natural killer cell count
chpo_term: 自然杀伤细胞数量异常
id: HP:0002837
hpo_term: Recurrent bronchitis
chpo_term: 复发性支气管炎
id: HP:0020102
hpo_term: Pneumocystis jirovecii pneumonia
chpo_term: 肺孢子菌肺炎
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0000388
hpo_term: Otitis media
chpo_term: 中耳炎
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0005415
hpo_term: Decreased proportion of CD8-positive T cells
chpo_term: CD8 + T细胞数目减低
Disease (OMIM:603233):
PSEUDOHYPOPARATHYROIDISM, TYPE IB
Pseudohypoparathyroidism, type IB

Associated phenotypes (HPO):
id: HP:0003456
hpo_term: Low urinary cyclic AMP response to PTH administration
chpo_term: 尿环腺苷酸对甲状旁腺素（PTH）治疗反应低下
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
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:0002905
hpo_term: Hyperphosphatemia
chpo_term: 高磷血症
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
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:0000852
hpo_term: Pseudohypoparathyroidism
chpo_term: 假性甲状旁腺功能减退症
Disease (OMIM:271320):
Spinocerebellar degeneration with macular corneal dystrophy, congenitalcataracts, and myopia
SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA

Associated phenotypes (HPO):
id: HP:0002497
hpo_term: Spastic ataxia
chpo_term: 痉挛性共济失调
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002503
hpo_term: Spinocerebellar tract degeneration
chpo_term: 脊髓小脑束变性
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (OMIM:618161):
Joubert syndrome 35
JOUBERT SYNDROME 35

Associated phenotypes (HPO):
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
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:0011933
hpo_term: Elongated superior cerebellar peduncle
chpo_term: 小脑上脚延长
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0030760
hpo_term: Renal fibrosis
chpo_term: 肾纤维化
id: HP:0004370
hpo_term: Abnormality of temperature regulation
chpo_term: 体温调节异常
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
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:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
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:617252):
UNCOMBABLE HAIR SYNDROME 3
Uncombable hair syndrome 3

Associated phenotypes (HPO):
id: HP:0002212
hpo_term: Curly hair
chpo_term: 卷曲样发
id: HP:0002235
hpo_term: Pili canaliculi
chpo_term: 隧道毛发
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0030056
hpo_term: Uncombable hair
chpo_term: 蓬发
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:608372):
Deafness, autosomal dominant nonsyndromic sensorineural 49
DEAFNESS, AUTOSOMAL DOMINANT 49

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001730
hpo_term: Progressive hearing impairment
chpo_term: 渐进性听力损失
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619519):
Charcot-Marie-Tooth disease, axonal, type 2FF
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF

Associated phenotypes (HPO):
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0033466
hpo_term: Weak grip
chpo_term: 抓握无力
id: HP:0031189
hpo_term: Wrist drop
chpo_term: 垂腕
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0009005
hpo_term: Weakness of the intrinsic hand muscles
chpo_term: 手内在肌无力
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0007149
hpo_term: Distal upper limb amyotrophy
chpo_term: 上肢远端肌萎缩
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
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:0008959
hpo_term: Distal upper limb muscle weakness
chpo_term: 上肢远端肌无力
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0033383
hpo_term: Decreased compound muscle action potential amplitude
chpo_term: 复合肌肉动作电位波幅降低
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0001239
hpo_term: Wrist flexion contracture
chpo_term: 腕关节屈曲挛缩
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0006886
hpo_term: Impaired distal vibration sensation
chpo_term: 远端振动觉障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
Disease (OMIM:601356):
Lethal short-limb skeletal dysplasia, al Gazali type
LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE

Associated phenotypes (HPO):
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0005720
hpo_term: Shortening of all metacarpals
chpo_term: 全部掌骨缩短
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0011910
hpo_term: Shortening of all phalanges of fingers
chpo_term: 全部指骨短
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0005716
hpo_term: Lethal skeletal dysplasia
chpo_term: 致死性骨骼发育不良
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
Disease (OMIM:182210):
SHPRINTZEN OMPHALOCELE SYNDROME
Shprintzen omphalocele syndrome

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0008749
hpo_term: Laryngeal hypoplasia
chpo_term: 喉发育不全
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0002000
hpo_term: Short columella
chpo_term: 鼻小柱短小
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:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000454
hpo_term: Flared nostrils
chpo_term: 喇叭状鼻孔
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0000153
hpo_term: Abnormality of the mouth
chpo_term: 嘴部异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0009555
hpo_term: Hypoplasia of the pharynx
chpo_term: 咽发育不全
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0005956
hpo_term: Anteroposteriorly shortened larynx
chpo_term: 喉前后径缩短
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
Disease (OMIM:620398):
GLYCINE ENCEPHALOPATHY 2
Glycine encephalopathy 2

Associated phenotypes (HPO):
id: HP:0500230
hpo_term: Increased CSF glycine concentration
chpo_term: 脑脊液甘氨酸浓度升高
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0008288
hpo_term: Nonketotic hyperglycinemia
chpo_term: 非酮症性高甘氨酸血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:227600):
FACTOR X DEFICIENCY
Factor X deficiency

Associated phenotypes (HPO):
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0012233
hpo_term: Intramuscular hematoma
chpo_term: 肌内血肿
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0008321
hpo_term: Reduced factor X activity
chpo_term: 凝血因子X活性减低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0005261
hpo_term: Joint hemorrhage
chpo_term: 关节出血
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0004846
hpo_term: Prolonged bleeding after surgery
chpo_term: 手术后出血时间延长
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
Disease (OMIM:613752):
HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

Associated phenotypes (HPO):
id: HP:0003235
hpo_term: Hypermethioninemia
chpo_term: 高甲硫胺酸血症
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
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: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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:6000750
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0032234
hpo_term: Increased circulating creatine kinase MM isoform
chpo_term: 血液肌酸激酶MM亚型增加
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0031143
hpo_term: Decreased hepatic echogenicity
chpo_term: 肝回声降低
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0020045
hpo_term: Esodeviation
chpo_term: 内斜视
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
Disease (OMIM:616819):
Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA

Associated phenotypes (HPO):
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0012724
hpo_term: Upper eyelid edema
chpo_term: 上眼睑水肿
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001338
hpo_term: Partial agenesis of the corpus callosum
chpo_term: 局部胼胝体发育不全
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:609939):
Systemic lupus erythematosus, susceptibility to, 6
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6

Associated phenotypes (HPO):
id: HP:0002102
hpo_term: Pleuritis
chpo_term: 胸膜炎
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0025300
hpo_term: Malar rash
chpo_term: 颧部皮疹
id: HP:0010982
hpo_term: Polygenic inheritance
chpo_term: 多基因遗传
id: HP:0012211
hpo_term: Abnormal renal physiology
chpo_term: 肾脏生理异常
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0002715
hpo_term: Abnormality of the immune system
chpo_term: 免疫系统异常
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
Disease (OMIM:137440):
GERSTMANN-STRAUSSLER DISEASE
Gerstmann-Straussler disease

Associated phenotypes (HPO):
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002185
hpo_term: Neurofibrillary tangles
chpo_term: 神经原纤维缠结
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0000751
hpo_term: Personality changes
chpo_term: 性格改变
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0030223
hpo_term: Perseveration
chpo_term: 持续症现象
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0007772
hpo_term: Impaired smooth pursuit
chpo_term: 平滑追视障碍
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:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0003678
hpo_term: Rapidly progressive
chpo_term: 快速进展
Disease (OMIM:620415):
Woolly hair-skin fragility syndrome
WOOLLY HAIR-SKIN FRAGILITY SYNDROME

Associated phenotypes (HPO):
id: HP:0002224
hpo_term: Woolly hair
chpo_term: 羊毛状发
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0032152
hpo_term: Keratosis pilaris
chpo_term: 毛囊角化症
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0100792
hpo_term: Acantholysis
chpo_term: 皮肤棘层松解
Disease (OMIM:125050):
DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA
Deafness with anhidrotic ectodermal dysplasia

Associated phenotypes (HPO):
id: HP:0007476
hpo_term: Anhidrotic ectodermal dysplasia
chpo_term: 无汗性外胚层发育不良
id: HP:0001730
hpo_term: Progressive hearing impairment
chpo_term: 渐进性听力损失
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:611804):
Elliptocytosis 1
ELLIPTOCYTOSIS 1

Associated phenotypes (HPO):
id: HP:0004445
hpo_term: Elliptocytosis
chpo_term: 椭圆形红细胞增多症
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
Disease (OMIM:620367):
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8

Associated phenotypes (HPO):
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0030169
hpo_term: Gastric varix
chpo_term: 胃静脉曲张
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
id: HP:0011954
hpo_term: Nodular regenerative hyperplasia of liver
chpo_term: 肝脏结节性再生性增生
id: HP:0031950
hpo_term: Usual interstitial pneumonia
chpo_term: 寻常性间质性肺炎
id: HP:0001082
hpo_term: Cholecystitis
chpo_term: 胆囊炎
id: HP:0031246
hpo_term: Nonproductive cough
chpo_term: 干咳
id: HP:0031413
hpo_term: Short telomere length
chpo_term: 端粒缩短
id: HP:0031996
hpo_term: Inspiratory crackles
chpo_term: 吸气性爆裂音
id: HP:0045051
hpo_term: Decreased DLCO
chpo_term: 一氧化碳弥散量减少
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0005518
hpo_term: Increased mean corpuscular volume
chpo_term: 平均红细胞体积增加
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传