TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:617931):
SPINOCEREBELLAR ATAXIA 47
Spinocerebellar ataxia 47

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
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: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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
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:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:116860):
CEREBRAL CAVERNOUS MALFORMATIONS
Cerebral cavernous malformations 1

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003011
hpo_term: Abnormality of the musculature
chpo_term: 肌肉组织异常
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0006576
hpo_term: Hepatic vascular malformations
chpo_term: 肝脏血管畸形
id: HP:0007797
hpo_term: Retinal vascular malformation
chpo_term: 视网膜血管畸形
id: HP:0033522
hpo_term: Cerebral cavernous malformation
chpo_term: 脑海绵状血管瘤
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
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:300076):
IMMUNONEUROLOGIC DISORDER, X-LINKED
Immunoneurologic disorder, X-linked

Associated phenotypes (HPO):
id: HP:0009073
hpo_term: Progressive proximal muscle weakness
chpo_term: 进行性近端肌无力
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0000009
hpo_term: Functional abnormality of the bladder
chpo_term: 膀胱功能异常
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0008348
hpo_term: Decreased circulating IgG2 level
chpo_term: 循环IgG2水平降低
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
Disease (OMIM:614592):
BENT BONE DYSPLASIA SYNDROME
Bent bone dysplasia syndrome

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001591
hpo_term: Bell-shaped thorax
chpo_term: 钟形胸
id: HP:0004440
hpo_term: Coronal craniosynostosis
chpo_term: 冠状缝早闭
id: HP:0005474
hpo_term: Decreased calvarial ossification
chpo_term: 颅骨骨化减少
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:0003173
hpo_term: Hypoplastic pubic bone
chpo_term: 耻骨发育不全
id: HP:0001090
hpo_term: Abnormally large globe
chpo_term: 大眼球
id: HP:0034530
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0000894
hpo_term: Short clavicles
chpo_term: 短锁骨
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:300062):
Mental retardation, X-linked 14
MENTAL RETARDATION, X-LINKED 14

Associated phenotypes (HPO):
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
Disease (OMIM:619908):
Neurodevelopmental disorder with language delay and seizure
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES

Associated phenotypes (HPO):
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002444
hpo_term: Hypothalamic hamartoma
chpo_term: 下丘脑错构瘤
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0008770
hpo_term: Obsessive-compulsive trait
chpo_term: 强迫特质
id: HP:0002917
hpo_term: Hypomagnesemia
chpo_term: 低镁血症
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0002506
hpo_term: Diffuse cerebral atrophy
chpo_term: 弥漫性脑萎缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:610092):
Microphthalmia with coloboma 3
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3

Associated phenotypes (HPO):
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
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:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
Disease (OMIM:620151):
Wolman disease
WOLMAN DISEASE

Associated phenotypes (HPO):
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
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:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0006554
hpo_term: Acute hepatic failure
chpo_term: 急性肝功能衰竭
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0031205
hpo_term: Reduced lysosomal acid lipase activity
chpo_term: 溶酶体酸性脂肪酶活性降低
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0010512
hpo_term: Adrenal calcification
chpo_term: 肾上腺钙化
Disease (OMIM:168400):
Parastremmatic dwarfism
PARASTREMMATIC DWARFISM

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
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:608805):
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
Avascular necrosis of femoral head, primary, 1

Associated phenotypes (HPO):
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:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0040160
hpo_term: Generalized osteoporosis
chpo_term: 全身性骨质疏松症
id: HP:0031520
hpo_term: Groin pain
chpo_term: 腹股沟痛
id: HP:0030838
hpo_term: Hip pain
chpo_term: 髋痛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617925):
SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY
Short-Rib thoracic dysplasia 20 with polydactyly

Associated phenotypes (HPO):
id: HP:0008749
hpo_term: Laryngeal hypoplasia
chpo_term: 喉发育不全
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0001674
hpo_term: Complete atrioventricular canal defect
chpo_term: 完全性房室通道缺损
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0003375
hpo_term: Narrow greater sciatic notch
chpo_term: 坐骨大切迹变窄
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0001153
hpo_term: Septate vagina
chpo_term: 阴道纵膈
id: HP:0005474
hpo_term: Decreased calvarial ossification
chpo_term: 颅骨骨化减少
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0003173
hpo_term: Hypoplastic pubic bone
chpo_term: 耻骨发育不全
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0100628
hpo_term: Esophageal diverticulum
chpo_term: 食管憩室
id: HP:0000895
hpo_term: Lateral clavicle hook
chpo_term: 锁骨外侧钩
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0003762
hpo_term: Uterus didelphys
chpo_term: 双子宫
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0005285
hpo_term: Absent nasal bridge
chpo_term: 无鼻梁
id: HP:0011467
hpo_term: Absent gallbladder
chpo_term: 胆囊缺失
id: HP:0004491
hpo_term: Large posterior fontanelle
chpo_term: 大后囟
id: HP:0011802
hpo_term: Hamartoma of tongue
chpo_term: 舌错构瘤
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
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:0000888
hpo_term: Horizontal ribs
chpo_term: 横位肋骨
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
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:0100818
hpo_term: Long thorax
chpo_term: 长胸廓
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0005736
hpo_term: Short tibia
chpo_term: 短胫骨
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
Disease (OMIM:312300):
ANDROGEN INSENSITIVITY, PARTIAL
Reifenstein syndrome

Associated phenotypes (HPO):
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000051
hpo_term: Perineal hypospadias
chpo_term: 会阴型尿道下裂
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0001547
hpo_term: Abnormal rib cage morphology
chpo_term: 胸廓形态异常
id: HP:0000037
hpo_term: Male pseudohermaphroditism
chpo_term: 男性假两性畸形
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0012873
hpo_term: Absent vas deferens
chpo_term: 输精管缺如
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
Disease (OMIM:125500):
DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III
Dentinogenesis imperfecta, shields type III

Associated phenotypes (HPO):
id: HP:0000694
hpo_term: Odontodysplasia
chpo_term: 空壳牙
id: HP:0009102
hpo_term: Anterior open-bite malocclusion
chpo_term: 前牙开咬错位咬合畸形
id: HP:0000700
hpo_term: Periapical bone loss
chpo_term: 根尖周的骨质流失
id: HP:0000703
hpo_term: Dentinogenesis imperfecta
chpo_term: 牙本质发育不全
id: HP:0009722
hpo_term: Dental enamel pits
chpo_term: 牙釉质凹陷
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:249310):
Neuhauser syndrome
MEGALOCORNEA-MENTAL RETARDATION SYNDROME

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002265
hpo_term: Large fleshy ears
chpo_term: 肥大耳
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000485
hpo_term: Megalocornea
chpo_term: 巨角膜
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0012805
hpo_term: Iris transillumination defect
chpo_term: 虹膜透光缺陷
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0100693
hpo_term: Iridodonesis
chpo_term: 虹膜震颤
id: HP:0002816
hpo_term: Genu recurvatum
chpo_term: 膝反屈
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000832
hpo_term: Primary hypothyroidism
chpo_term: 原发性甲状腺功能减退症
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
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:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0001084
hpo_term: Corneal arcus
chpo_term: 角膜环
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0002370
hpo_term: Poor coordination
chpo_term: 协调能力下降
id: HP:0012632
hpo_term: Abnormal intraocular pressure
chpo_term: 眼内压异常
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007676
hpo_term: Hypoplasia of the iris
chpo_term: 虹膜发育不全
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (OMIM:152950):
MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0007858
hpo_term: Chorioretinal lacunae
chpo_term: 脉络膜视网膜漏洞
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0500041
hpo_term: Myopic astigmatism
chpo_term: 近视散光
id: HP:0008052
hpo_term: Retinal fold
chpo_term: 视网膜皱襞
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:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0007731
hpo_term: Chorioretinal dysplasia
chpo_term: 脉络膜视网膜发育不良
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
Disease (OMIM:609528):
CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
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:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0011951
hpo_term: Aspiration pneumonia
chpo_term: 吸入性肺炎
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0002539
hpo_term: Cortical dysplasia
chpo_term: 皮质发育不良
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0007766
hpo_term: Optic disc hypoplasia
chpo_term: 视盘发育不良
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
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:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0006887
hpo_term: Intellectual disability, progressive
chpo_term: 进行性智力障碍
Disease (OMIM:167900):
PAPILLOMATOSIS, CONFLUENT AND RETICULATED
Papillomatosis, familial cutaneous

Associated phenotypes (HPO):
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:608636):
Chromosome 15q11-q13 duplication syndrome
CHROMOSOME 15q11-q13 DUPLICATION SYNDROME

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
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:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0000758
hpo_term: Abnormal nonverbal communicative behavior
chpo_term: 非言语交际行为异常
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000732
hpo_term: Inflexible adherence to routines or rituals
chpo_term: 恪守程序或习惯
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0003144
hpo_term: Increased serum serotonin
chpo_term: 血清5-羟色胺（血清素）水平升高
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0000728
hpo_term: Impaired ability to form peer relationships
chpo_term: 同伴关系建立能力障碍
id: HP:0000723
hpo_term: Restrictive behavior
chpo_term: 限制性行为
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000721
hpo_term: Lack of spontaneous play
chpo_term: 自发性游戏缺乏
Disease (OMIM:618425):
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS
Neurodevelopmental disorder with impaired speech and hyperkinetic movements

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
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