TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:212840):
GORDON HOLMES SYNDROME
Cerebellar ataxia and hypogonadotropic hypogonadism

Associated phenotypes (HPO):
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
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:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0008197
hpo_term: Absence of pubertal development
chpo_term: 青春期发育缺失
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:615300):
Perrault syndrome 4
PERRAULT SYNDROME 4

Associated phenotypes (HPO):
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0025643
hpo_term: Tarlov cyst
chpo_term: 塔洛夫囊肿
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
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:0000408
hpo_term: Progressive sensorineural hearing impairment
chpo_term: 渐进性感音神经性听力损失
id: HP:0000837
hpo_term: Increased circulating gonadotropin level
chpo_term: 促性腺激素水平升高
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0000813
hpo_term: Bicornuate uterus
chpo_term: 双角子宫
id: HP:0008214
hpo_term: Decreased serum estradiol
chpo_term: 血清雌二醇水平降低
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0008724
hpo_term: Hypoplasia of the ovary
chpo_term: 卵巢发育不良
Disease (OMIM:144300):
Hyperlipoproteinemia, type II, and deafness
HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0001084
hpo_term: Corneal arcus
chpo_term: 角膜环
id: HP:0003141
hpo_term: Increased LDL cholesterol concentration
chpo_term: 高β-脂蛋白血症
id: HP:0002635
hpo_term: Type IV atherosclerotic lesion
chpo_term: IV型动脉粥样硬化病变
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
Disease (OMIM:603204):
EPILEPSY, NOCTURNAL FRONTAL LOBE, 2
Epilepsy, nocturnal frontal lobe, 2

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:140600):
Osteoarthritis of distal interphalangeal joints
OSTEOARTHRITIS SUSCEPTIBILITY 2

Associated phenotypes (HPO):
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0012313
hpo_term: Heberden's node
chpo_term: Heberden结节
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618142):
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0004736
hpo_term: Crossed fused renal ectopia
chpo_term: 融合肾移向一侧
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0010751
hpo_term: Dimple chin
chpo_term: 下巴浅凹
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010954
hpo_term: Hypoplastic right heart
chpo_term: 右心发育不全
id: HP:0010557
hpo_term: Overlapping fingers
chpo_term: 指交叠
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0100258
hpo_term: Preaxial polydactyly
chpo_term: 轴前多指（趾）
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:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
Disease (OMIM:617271):
Nephronophthisis 20
NEPHRONOPHTHISIS 20

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000090
hpo_term: Nephronophthisis
chpo_term: 肾结核
Disease (OMIM:614750):
Myasthenic syndrome, congenital, 13, with tubular aggregates
MYASTHENIC SYNDROME, CONGENITAL, 13

Associated phenotypes (HPO):
id: HP:0030205
hpo_term: Increased jitter at single fiber EMG
chpo_term: 单纤维肌电图时抖动增加
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003473
hpo_term: Fatigable weakness
chpo_term: 疲劳性肌无力
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0100301
hpo_term: Muscle fiber tubular inclusions
chpo_term: 肌纤维管状包涵体
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
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:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0003403
hpo_term: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
chpo_term: EMG：复合肌肉动作电位对重复神经刺激的反应递减
Disease (OMIM:145750):
HYPERTRIGLYCERIDEMIA, FAMILIAL
Hypertriglyceridemia, familial

Associated phenotypes (HPO):
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0003362
hpo_term: Increased VLDL cholesterol concentration
chpo_term: 循环系统内的极低密度脂蛋白胆固醇浓度增高
id: HP:0040075
hpo_term: Hypopituitarism
chpo_term: 垂体功能减退
id: HP:0004416
hpo_term: Precocious atherosclerosis
chpo_term: 早发性动脉粥样硬化
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001039
hpo_term: Atheroeruptive xanthoma
chpo_term: 粥样发疹性黄瘤
id: HP:0001952
hpo_term: Glucose intolerance
chpo_term: 糖耐量异常
Disease (OMIM:619274):
Deafness, autosomal dominant 80
DEAFNESS, AUTOSOMAL DOMINANT 80

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0011380
hpo_term: Morphological abnormality of the semicircular canal
chpo_term: 半规管形态异常
id: HP:0011375
hpo_term: Cochlear aplasia
chpo_term: 耳蜗不发育
id: HP:0011379
hpo_term: Dilated vestibule of the inner ear
chpo_term: 内耳前庭扩大
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0008527
hpo_term: Congenital sensorineural hearing impairment
chpo_term: 先天性感音神经性听力障碍
id: HP:6000988
Disease (OMIM:108650):
SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT
Spastic ataxia 7, autosomal dominant

Associated phenotypes (HPO):
id: HP:0002497
hpo_term: Spastic ataxia
chpo_term: 痉挛性共济失调
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007728
hpo_term: Congenital miosis
chpo_term: 先天性瞳孔缩小
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0000549
hpo_term: Abnormal conjugate eye movement
chpo_term: 眼球共轭运动异常
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:610536):
Mandibulofacial dysostosis, Guion-Almeida type
MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE

Associated phenotypes (HPO):
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
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:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002032
hpo_term: Esophageal atresia
chpo_term: 食管闭锁
id: HP:0005321
hpo_term: Mandibulofacial dysostosis
chpo_term: 下颌面骨发育不全
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001238
hpo_term: Slender finger
chpo_term: 手指细长
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620393):
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79
Intellectual developmental disorder, autosomal recessive 79

Associated phenotypes (HPO):
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
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:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0100703
hpo_term: Tongue thrusting
chpo_term: 吐舌习惯
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001238
hpo_term: Slender finger
chpo_term: 手指细长
Disease (OMIM:301800):
ANUS, IMPERFORATE
Anus, imperforate

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0004397
hpo_term: Ectopic anus
chpo_term: 肛门异位
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
Disease (OMIM:610250):
Spastic paraplegia 31, autosomal dominant
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0000012
hpo_term: Urinary urgency
chpo_term: 尿急
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:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:260540):
PARKINSON-DEMENTIA SYNDROME
Supranuclear palsy, progressive atypical

Associated phenotypes (HPO):
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0002062
hpo_term: Morphological abnormality of the pyramidal tract
chpo_term: 锥体束的形态异常
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:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:613981):
HYPOTRICHOSIS 3
Hypotrichosis 3

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
id: HP:0000971
hpo_term: Abnormal sweat gland morphology
chpo_term: 汗腺异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615328):
SHAHEEN SYNDROME
Shaheen syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:251945):
MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT
Mitochondrial myopathy with A defect in mitochondrial-protein transport

Associated phenotypes (HPO):
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003737
hpo_term: Mitochondrial myopathy
chpo_term: 线粒体肌病
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
Disease (OMIM:612447):
Skeletal defects, genital hypoplasia, and mental retardation
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT

Associated phenotypes (HPO):
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0003097
hpo_term: Short femur
chpo_term: 短股骨
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009777
hpo_term: Absent thumb
chpo_term: 拇指缺如
id: HP:0005815
hpo_term: Supernumerary ribs
chpo_term: 多余肋
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
id: HP:0005736
hpo_term: Short tibia
chpo_term: 短胫骨
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:613759):
INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS
Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0011669
hpo_term: Left superior vena cava draining directly to the left atrium
chpo_term: 左上腔静脉接左心房
id: HP:0012852
hpo_term: Hepatic bridging fibrosis
chpo_term: 肝桥接性纤维化
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0033196
hpo_term: Portal inflammation
chpo_term: 门脉区炎症
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:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0032550
hpo_term: Howell-Jolly bodies
chpo_term: Howell-Jolly小体
id: HP:0033199
hpo_term: Increased circulating interleukin 10 concentration
chpo_term: 循环白细胞介素10水平升高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004935
hpo_term: Pulmonary artery atresia
chpo_term: 肺动脉闭锁
Disease (OMIM:188050):
Thrombophiliavenous thromboembolism, included
THROMBOPHILIA DUE TO THROMBIN DEFECT

Associated phenotypes (HPO):
id: HP:0001907
hpo_term: Thromboembolism
chpo_term: 血栓栓塞症
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0004419
hpo_term: Recurrent thrombophlebitis
chpo_term: 复发性血栓性静脉炎
id: HP:0002625
hpo_term: Deep venous thrombosis
chpo_term: 深静脉血栓形成
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002204
hpo_term: Pulmonary embolism
chpo_term: 肺栓塞
id: HP:0005305
hpo_term: Cerebral venous thrombosis
chpo_term: 脑静脉血栓形成
Disease (OMIM:173590):
PLATELET SIGNAL PROCESSING DEFECT
Platelet signal processing defect

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0008320
hpo_term: Impaired collagen-induced platelet aggregation
chpo_term: 胶原诱导的血小板凝集障碍
id: HP:0008148
hpo_term: Impaired epinephrine-induced platelet aggregation
chpo_term: 肾上腺素诱导的血小板聚集障碍
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:0004866
hpo_term: Impaired ADP-induced platelet aggregation
chpo_term: ADP诱导的血小板聚集障碍
Disease (OMIM:614022):
ATRIAL FIBRILLATION, FAMILIAL, 10
Atrial fibrillation, familial, 10

Associated phenotypes (HPO):
id: HP:0004754
hpo_term: Permanent atrial fibrillation
chpo_term: 永久性心房颤动
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0031295
hpo_term: Left atrial enlargement
chpo_term: 左心房增大
id: HP:0005133
hpo_term: Right ventricular dilatation
chpo_term: 右心室扩张
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0004749
hpo_term: Atrial flutter
chpo_term: 心房扑动
id: HP:0004757
hpo_term: Paroxysmal atrial fibrillation
chpo_term: 阵发性房颤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
Disease (OMIM:600057):
BLADDER EXSTROPHY AND EPISPADIAS COMPLEX
Exstrophy of bladder

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0002836
hpo_term: Bladder exstrophy
chpo_term: 膀胱外翻
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000039
hpo_term: Epispadias
chpo_term: 尿道上裂
id: HP:0030911
hpo_term: Bifid clitoris
chpo_term: 阴蒂分叉
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常