TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:133700):
Exostoses, multiple, type I
EXOSTOSES, MULTIPLE, TYPE I

Associated phenotypes (HPO):
id: HP:0002762
hpo_term: Multiple exostoses
chpo_term: 多发性外生骨疣
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003068
hpo_term: Madelung-like forearm deformities
chpo_term: 马德隆样前臂畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003276
hpo_term: Pelvic bone exostoses
chpo_term: 骨盆外生骨疣
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0000918
hpo_term: Scapular exostoses
chpo_term: 肩胛外生骨疣
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0003406
hpo_term: Peripheral nerve compression
chpo_term: 周围神经受压
id: HP:0002318
hpo_term: Cervical myelopathy
chpo_term: 脊髓型颈椎病
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0006765
hpo_term: Chondrosarcoma
chpo_term: 软骨肉瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003105
hpo_term: Protuberances at ends of long bones
chpo_term: 长骨末端突起
id: HP:0000896
hpo_term: Rib exostoses
chpo_term: 肋骨外生骨疣
Disease (OMIM:612581):
Mental retardation, autosomal dominant 4
MENTAL RETARDATION, AUTOSOMAL DOMINANT 4

Associated phenotypes (HPO):
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
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
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (OMIM:300400):
Severe combined immunodeficiency, X-linked
SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED

Associated phenotypes (HPO):
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0005479
hpo_term: Decreased circulating IgE
chpo_term: 循环IgE水平降低
id: HP:0004432
hpo_term: Agammaglobulinemia
chpo_term: 无丙种球蛋白血症
id: HP:0004430
hpo_term: Severe combined immunodeficiency
chpo_term: 重症联合免疫缺陷
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:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0012177
hpo_term: Abnormal natural killer cell physiology
chpo_term: 自然杀伤细胞生理功能异常
id: HP:0009098
hpo_term: Chronic oral candidiasis
chpo_term: 慢性口腔念珠菌病
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0007274
hpo_term: Recurrent bacterial meningitis
chpo_term: 复发性细菌性脑膜炎
id: HP:0000778
hpo_term: Hypoplasia of the thymus
chpo_term: 胸腺发育不全
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0002841
hpo_term: Recurrent fungal infections
chpo_term: 反复真菌感染
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0003347
hpo_term: Impaired lymphocyte transformation with phytohemagglutinin
chpo_term: 植物血凝素淋巴细胞转化受损
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
Disease (OMIM:618912):
SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY
Sorbitol dehydrogenase deficiency with peripheral neuropathy

Associated phenotypes (HPO):
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0008959
hpo_term: Distal upper limb muscle weakness
chpo_term: 上肢远端肌无力
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0007078
hpo_term: Decreased amplitude of sensory action potentials
chpo_term: 感觉动作电位波幅降低
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0033124
hpo_term: Increased serum sorbitol concentration
chpo_term: 血清山梨醇浓度升高
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
Disease (OMIM:607832):
Focal segmental glomerulosclerosis 3, susceptibility to
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000097
hpo_term: Focal segmental glomerulosclerosis
chpo_term: 局灶节段性肾小球硬化
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
Disease (OMIM:137200):
NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE
Neuromyotonia and axonal neuropathy, autosomal recessive

Associated phenotypes (HPO):
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0002411
hpo_term: Myokymia
chpo_term: 肌纤维颤搐
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0034351
hpo_term: Neuromyotonia
chpo_term: 神经性肌强直
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:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
Disease (OMIM:204100):
Leber congenital amaurosis, type II
LEBER CONGENITAL AMAUROSIS 2

Associated phenotypes (HPO):
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0001099
hpo_term: Fundus atrophy
chpo_term: 眼底萎缩
id: HP:0000563
hpo_term: Keratoconus
chpo_term: 圆锥角膜
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0001483
hpo_term: Eye poking
chpo_term: 戳眼
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0030825
hpo_term: Absent foveal reflex
chpo_term: 黄斑中心凹反射缺失
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:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0007688
hpo_term: Undetectable light- and dark-adapted electroretinogram
chpo_term: 无法检测的明暗适应视网膜电图
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:620241):
HYDROCEPHALUS, CONGENITAL, 5, SUSCEPTIBILITY TO
Hydrocephalus, congenital, 5, susceptibility to

Associated phenotypes (HPO):
id: HP:0002410
hpo_term: Aqueductal stenosis
chpo_term: 中脑导水管狭窄
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
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:0010953
hpo_term: Noncommunicating hydrocephalus
chpo_term: 非交通性脑积水
Disease (OMIM:610382):
Prosopagnosia, hereditary
PROSOPAGNOSIA, HEREDITARY

Associated phenotypes (HPO):
id: HP:0010528
hpo_term: Prosopagnosia
chpo_term: 面孔失认症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618906):
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES
Intellectual developmental disorder with autistic features and language delay, with or without seizures

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002497
hpo_term: Spastic ataxia
chpo_term: 痉挛性共济失调
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
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:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
Disease (OMIM:200400):
ACHALASIA, FAMILIAL ESOPHAGEAL
Achalasia, familial esophageal

Associated phenotypes (HPO):
id: HP:0002571
hpo_term: Achalasia
chpo_term: 贲门失弛缓症
id: HP:0001370
hpo_term: Rheumatoid arthritis
chpo_term: 类风湿关节炎
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:616095):
Monocarboxylate transporter 1 deficiency
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001993
hpo_term: Ketoacidosis
chpo_term: 酮症酸中毒
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
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:0012734
hpo_term: Ketotic hypoglycemia
chpo_term: 酮症性低血糖症
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:614872):
PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)
Peroxisome biogenesis disorder 7A (zellweger)

Associated phenotypes (HPO):
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:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0008935
hpo_term: Generalized neonatal hypotonia
chpo_term: 全身性新生儿肌张力低下
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0004491
hpo_term: Large posterior fontanelle
chpo_term: 大后囟
id: HP:0010655
hpo_term: Epiphyseal stippling
chpo_term: 骨骺点状钙化
id: HP:0034298
hpo_term: Elevated circulating hexacosanoic acid concentration
chpo_term: 循环二十六烷酸水平升高
id: HP:0034297
hpo_term: Elevated circulating tetracosanoic acid concentration
chpo_term: 循环二十四烷酸水平升高
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:248450):
Manitoba oculotrichoanal syndrome
MANITOBA OCULOTRICHOANAL SYNDROME

Associated phenotypes (HPO):
id: HP:0002025
hpo_term: Anal stenosis
chpo_term: 肛门狭窄
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:6000101
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0009553
hpo_term: Abnormality of the hairline
chpo_term: 发际线异常
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
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:0000579
hpo_term: Nasolacrimal duct obstruction
chpo_term: 鼻泪管阻塞
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0000625
hpo_term: Eyelid coloboma
chpo_term: 眼睑缺损
id: HP:0001126
hpo_term: Cryptophthalmos
chpo_term: 隐眼
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0000456
hpo_term: Bifid nasal tip
chpo_term: 鼻尖裂
id: HP:0000148
hpo_term: Vaginal atresia
chpo_term: 阴道闭锁
Disease (OMIM:600807):
Asthma, susceptibility to
ASTHMA, SUSCEPTIBILITY TO

Associated phenotypes (HPO):
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:4000007
hpo_term: Bronchoconstriction
chpo_term: 支气管收缩
id: HP:0032933
hpo_term: Airway hyperresponsiveness
chpo_term: 气道高反应性
Disease (OMIM:618090):
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0012434
hpo_term: Delayed social development
chpo_term: 社交发育迟缓
id: HP:0031358
hpo_term: Vegetative state
chpo_term: 植物状态
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:609823):
DEAFNESS, AUTOSOMAL RECESSIVE 28
Deafness, autosomal recessive 28

Associated phenotypes (HPO):
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:0008625
hpo_term: Severe sensorineural hearing impairment
chpo_term: 重度感音神经性耳聋
Disease (OMIM:620269):
Leukodystrophy, hypomyelinating, 26, with chondrodysplasia
LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA

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:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010585
hpo_term: Small epiphyses
chpo_term: 小骨骺
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0008434
hpo_term: Hypoplastic cervical vertebrae
chpo_term: 颈椎发育不良
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0004976
hpo_term: Knee dislocation
chpo_term: 膝关节脱位
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0004233
hpo_term: Advanced ossification of carpal bones
chpo_term: 腕骨骨化过早
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:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004626
hpo_term: Lumbar scoliosis
chpo_term: 腰椎侧凸
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
Disease (OMIM:305550):
Fingerprint body myopathy
FINGERPRINT BODY MYOPATHY

Associated phenotypes (HPO):
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
Disease (OMIM:300428):
MENTAL RETARDATION, X-LINKED 2
Mental retardation, X-linked 2

Associated phenotypes (HPO):
id: HP:0000321
hpo_term: Square face
chpo_term: 方脸
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:616917):
Mental retardation, autosomal recessive 53
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0011193
hpo_term: EEG with focal spikes
chpo_term: 脑电图，局灶性棘波
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
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:301050):
Alport syndrome, X-linked
ALPORT SYNDROME 1, X-LINKED

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:0000123
hpo_term: Nephritis
chpo_term: 肾炎
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:6001026
id: HP:0001142
hpo_term: Lenticonus
chpo_term: 圆锥形晶状体
id: HP:0030034
hpo_term: Glomerular basement membrane lamellation
chpo_term: 薄肾小球基底膜病
id: HP:0011501
hpo_term: Anterior lenticonus
chpo_term: 前圆锥形晶状体
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0002907
hpo_term: Microscopic hematuria
chpo_term: 镜下血尿症
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0200020
hpo_term: Corneal erosion
chpo_term: 角膜糜烂
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0006756
hpo_term: Diffuse leiomyomatosis
chpo_term: 弥漫性平滑肌瘤病
id: HP:0004722
hpo_term: Thickened glomerular basement membrane
chpo_term: 肾小球基底膜增厚
Disease (OMIM:618084):
PEELING SKIN SYNDROME 6
Peeling skin syndrome 6

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0040162
hpo_term: Orthokeratosis
chpo_term: 正角化
Disease (OMIM:208060):
ARTERIOSCLEROSIS, SEVERE JUVENILE
Arteriosclerosis, severe juvenile

Associated phenotypes (HPO):
id: HP:0004963
hpo_term: Calcification of the aorta
chpo_term: 主动脉钙化
id: HP:0004589
hpo_term: Dysplasia of second lumbar vertebra
chpo_term: 第二腰椎发育不良
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002592
hpo_term: Gastric ulcer
chpo_term: 胃溃疡
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0008014
hpo_term: Central fundal arteriolar microaneurysms
chpo_term: 眼底中央小动脉微血管瘤
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0030053
hpo_term: Stiff skin
chpo_term: 硬皮
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0002634
hpo_term: Arteriosclerosis
chpo_term: 动脉硬化
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0007768
hpo_term: Central retinal vessel vascular tortuosity
chpo_term: 视网膜中央血管迂曲
Disease (OMIM:188800):
Tibial torsion, bilateral medial
TIBIAL TORSION, BILATERAL MEDIAL

Associated phenotypes (HPO):
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0100694
hpo_term: Tibial torsion
chpo_term: 胫骨扭转