TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:190351):
Trichorhinophalangeal syndrome, type III
TRICHORHINOPHALANGEAL SYNDROME, TYPE III

Associated phenotypes (HPO):
id: HP:0003279
hpo_term: Coxa magna
chpo_term: 髋膨大
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
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:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0005743
hpo_term: Avascular necrosis of the capital femoral epiphysis
chpo_term: 股骨头骨骺缺血性坏死
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0011069
hpo_term: Supernumerary tooth
chpo_term: 多生牙
id: HP:0010259
hpo_term: Cone-shaped epiphyses of the middle phalanges of the hand
chpo_term: 中节指骨锥形骨骺
id: HP:0002805
hpo_term: Accelerated bone age after puberty
chpo_term: 青春期后骨龄加速
id: HP:0000447
hpo_term: Pear-shaped nose
chpo_term: 梨形鼻
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
Disease (OMIM:613217):
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
Diarrhea 5, with tufting enteropathy, congenital

Associated phenotypes (HPO):
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0002041
hpo_term: Intractable diarrhea
chpo_term: 顽固性腹泻
id: HP:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0034588
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:612109):
OCULOAURICULAR SYNDROME
Oculoauricular syndrome

Associated phenotypes (HPO):
id: HP:0000387
hpo_term: Absent earlobe
chpo_term: 耳垂缺失
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000480
hpo_term: Retinal coloboma
chpo_term: 视网膜缺损
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0012376
hpo_term: Microphakia
chpo_term: 小晶状体
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:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011484
hpo_term: Posterior synechiae of the anterior chamber
chpo_term: 虹膜后粘连
id: HP:0032286
hpo_term: Ultra-low vision with retained light perception
chpo_term: 保留光感的极低视力
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0025514
hpo_term: Morning glory anomaly
chpo_term: 牵牛花样视盘发育异常
id: HP:0000579
hpo_term: Nasolacrimal duct obstruction
chpo_term: 鼻泪管阻塞
id: HP:0001104
hpo_term: Macular hypoplasia
chpo_term: 黄斑发育不良
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007700
hpo_term: Ocular anterior segment dysgenesis
chpo_term: 眼球前段发育不全
id: HP:0020049
hpo_term: Exodeviation
chpo_term: 外斜视
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
id: HP:0006934
hpo_term: Congenital nystagmus
chpo_term: 先天性眼球震颤
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0011523
hpo_term: Iris cyst
chpo_term: 虹膜囊肿
id: HP:0000627
hpo_term: Posterior embryotoxon
chpo_term: 后胚胎环
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000667
hpo_term: Phthisis bulbi
chpo_term: 眼萎缩
id: HP:0000548
hpo_term: Cone/cone-rod dystrophy
chpo_term: 锥杆细胞营养不良
id: HP:0000647
hpo_term: Sclerocornea
chpo_term: 角膜巩膜化
id: HP:0003778
hpo_term: Short mandibular rami
chpo_term: 下颌支短
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:189600):
TORTICOLLIS

Associated phenotypes (HPO):
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
Disease (OMIM:140400):
Progressive familial heart block, type II
PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II

Associated phenotypes (HPO):
id: HP:0005178
hpo_term: Complete heart block with narrow QRS complexes
chpo_term: 完全性心脏传导阻滞伴窄QRS波群
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0001688
hpo_term: Sinus bradycardia
chpo_term: 窦性心动过缓
id: HP:0001699
hpo_term: Sudden death
chpo_term: 猝死
Disease (OMIM:300088):
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9
Epileptic encephalopathy, early infantile, 9

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0006813
hpo_term: Focal hemiclonic seizure
chpo_term: 局灶性偏侧阵挛发作
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0025190
hpo_term: Bilateral tonic-clonic seizure with generalized onset
chpo_term: 双侧强直- 阵挛发作
id: HP:0032810
hpo_term: Focal sensory seizure with cephalic sensation
chpo_term: 伴头部不适感的局灶性感觉发作
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0032660
hpo_term: Convulsive status epilepticus
chpo_term: 惊厥性癫痫持续状态
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:601820):
Hyperinsulinemic hypoglycemia, familial, 2
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2

Associated phenotypes (HPO):
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0004510
hpo_term: Pancreatic islet-cell hyperplasia
chpo_term: 胰岛细胞增生
id: HP:0000825
hpo_term: Hyperinsulinemic hypoglycemia
chpo_term: 高胰岛素性低血糖
id: HP:0034346
hpo_term: Nesidioblastosis
chpo_term: 胰岛母细胞增生症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:620636):
Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE

Associated phenotypes (HPO):
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
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: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:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0034332
hpo_term: Cognitive regression
chpo_term: 认知衰退
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:175450):
Polyposis, intestinal, with multiple exostoses
POLYPOSIS, INTESTINAL, WITH MULTIPLE EXOSTOSES

Associated phenotypes (HPO):
id: HP:0002762
hpo_term: Multiple exostoses
chpo_term: 多发性外生骨疣
id: HP:0200008
hpo_term: Intestinal polyposis
chpo_term: 肠息肉病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617924):
Epilepsy, juvenile myoclonic, susceptibility to, 10
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:608804):
Leukodystrophy, hypomyelinating, 2
LEUKODYSTROPHY, HYPOMYELINATING, 2

Associated phenotypes (HPO):
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0006808
hpo_term: Cerebral hypomyelination
chpo_term: 脑髓鞘形成减少
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:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
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:0007220
hpo_term: Demyelinating motor neuropathy
chpo_term: 脱髓鞘性运动神经病
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0002599
hpo_term: Head titubation
chpo_term: 点头
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
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:0001583
hpo_term: Rotary nystagmus
chpo_term: 旋转眼球震颤
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
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:0002191
hpo_term: Progressive spasticity
chpo_term: 进行性痉挛
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:0002349
hpo_term: Focal aware seizure
chpo_term: 知觉保留的局灶性发作
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (OMIM:300705):
Xp11.22 microduplication syndrome
CHROMOSOME Xp11.22 DUPLICATION SYNDROME

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:620150):
EPIDERMOLYTIC HYPERKERATOSIS 2A, AUTOSOMAL DOMINANT
Epidermolytic hyperkeratosis 2

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0005595
hpo_term: Generalized hyperkeratosis
chpo_term: 泛发性角化过度
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0031288
hpo_term: Cobblestone-like hyperkeratosis
chpo_term: 鹅卵石样角化过度
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0007479
hpo_term: Congenital nonbullous ichthyosiform erythroderma
chpo_term: 鱼鳞病样红皮病(大疱型)、大疱性鱼鳞病样角化过度症、显性遗传性先天性鱼鳞病、表皮松解性角化过度鱼鳞病
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
Disease (OMIM:619909):
Pontocerebellar hypoplasia, type 17
PONTOCEREBELLAR HYPOPLASIA, TYPE 17

Associated phenotypes (HPO):
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:0002268
hpo_term: Paroxysmal dystonia
chpo_term: 阵发性肌张力障碍
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0100307
hpo_term: Cerebellar hemisphere hypoplasia
chpo_term: 小脑半球发育不全
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:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0001684
hpo_term: Secundum atrial septal defect
chpo_term: 第二房间隔缺损
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:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
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
Disease (OMIM:610093):
Microphthalmia, isolated 2
MICROPHTHALMIA, ISOLATED 2

Associated phenotypes (HPO):
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:617930):
Chromosome 1p35 deletion syndrome
CHROMOSOME 1p35 DELETION SYNDROME

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
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:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
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:0012427
hpo_term: Increased femoral anteversion
chpo_term: 股骨前倾增大
id: HP:0011432
hpo_term: High maternal circulating alpha-fetoprotein concentration
chpo_term: 母体循环甲胎蛋白水平高
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0025116
hpo_term: Fetal distress
chpo_term: 胎儿窘迫
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000851
hpo_term: Congenital hypothyroidism
chpo_term: 先天性甲状腺功能减退症
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0009908
hpo_term: Anterior creases of earlobe
chpo_term: 耳垂前襞
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0025312
hpo_term: Esophoria
chpo_term: 内隐斜
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0034197
hpo_term: Third trimester onset
chpo_term: 孕晚期起病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0007874
hpo_term: Almond-shaped palpebral fissure
chpo_term: 杏仁状睑裂
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
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:608810):
Myopathy, myofibrillar, 2, mfm2
MYOPATHY, MYOFIBRILLAR, 2

Associated phenotypes (HPO):
id: HP:0008969
hpo_term: Leg muscle stiffness
chpo_term: 腿部肌肉僵硬
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003555
hpo_term: Muscle fiber splitting
chpo_term: 肌纤维分裂
id: HP:0003731
hpo_term: Quadriceps muscle weakness
chpo_term: 股四头肌无力
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0003694
hpo_term: Late-onset proximal muscle weakness
chpo_term: 晚发性近端肌无力
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0012764
hpo_term: Orthopnea
chpo_term: 端坐式呼吸
id: HP:0100324
hpo_term: Scleroderma
chpo_term: 硬皮病
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0003749
hpo_term: Pelvic girdle muscle weakness
chpo_term: 骨盆带肌无力
id: HP:0003547
hpo_term: Shoulder girdle muscle weakness
chpo_term: 肩胛带肌肉无力
id: HP:0025717
hpo_term: Skeletal muscle autophagosome accumulation
chpo_term: 骨骼肌自噬体蓄积
id: HP:0003325
hpo_term: Limb-girdle muscle weakness
chpo_term: 肢带肌无力
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0009072
hpo_term: Decreased Achilles reflex
chpo_term: 跟腱反射减弱
id: HP:0030207
hpo_term: Paradoxical respiration
chpo_term: 反常呼吸运动
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
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:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
Disease (OMIM:602483):
Auriculocondylar syndrome 1
AURICULOCONDYLAR SYNDROME 1

Associated phenotypes (HPO):
id: HP:0005216
hpo_term: Impaired mastication
chpo_term: 咀嚼功能受损
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0025267
hpo_term: Snoring
chpo_term: 打鼾
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0009088
hpo_term: Speech articulation difficulties
chpo_term: 言语表达困难
id: HP:0009102
hpo_term: Anterior open-bite malocclusion
chpo_term: 前牙开咬错位咬合畸形
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0008537
hpo_term: Cleft at the superior portion of the pinna
chpo_term: 上部耳廓裂
id: HP:0008559
hpo_term: Hypoplastic superior helix
chpo_term: 耳轮上部发育不全
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0007627
hpo_term: Mandibular condyle aplasia
chpo_term: 下颌骨髁发育不全
id: HP:0007628
hpo_term: Mandibular condyle hypoplasia
chpo_term: 下颌骨髁发育不全
id: HP:0004453
hpo_term: Overfolding of the superior helices
chpo_term: 耳轮上部过度卷曲
id: HP:0004451
hpo_term: Postauricular skin tag
chpo_term: 耳后皮赘
id: HP:0031013
hpo_term: Ankylosis
chpo_term: 关节僵硬
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:612690):
Spherocytosis, type 5
SPHEROCYTOSIS, TYPE 5

Associated phenotypes (HPO):
id: HP:0005502
hpo_term: Increased red cell osmotic fragility
chpo_term: 红细胞渗透脆性增加
id: HP:0004444
hpo_term: Spherocytosis
chpo_term: 球形红细胞增多症
id: HP:0011893
hpo_term: Abnormal leukocyte count
chpo_term: 白细胞计数异常
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:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0011873
hpo_term: Abnormal platelet count
chpo_term: 血小板计数异常
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
Disease (OMIM:615841):
SPERMATOGENIC FAILURE 13
Spermatogenic failure 13

Associated phenotypes (HPO):
id: HP:0030345
hpo_term: Abnormal circulating luteinizing hormone concentration
chpo_term: 血液黄体生成素水平异常
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0008232
hpo_term: Elevated circulating follicle stimulating hormone level
chpo_term: 血液卵泡刺激素水平升高
id: HP:0030087
hpo_term: Abnormal circulating testosterone concentration
chpo_term: 血液睾酮水平异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0040086
hpo_term: Abnormal prolactin level
chpo_term: 催乳素水平异常
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症