TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:620402):
Neuronopathy, distal hereditary motor, autosomal recessive 9
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0008959
hpo_term: Distal upper limb muscle weakness
chpo_term: 上肢远端肌无力
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:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0031993
hpo_term: Hoffmann sign
chpo_term: Hoffmann征
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0010524
hpo_term: Agnosia
chpo_term: 失认
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0007210
hpo_term: Lower limb amyotrophy
chpo_term: 下肢肌萎缩
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:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:618189):
CARDIOMYOPATHY, DILATED, 2C
Cardiomyopathy, dilated, 2C

Associated phenotypes (HPO):
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
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:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:620416):
Spastic paraplegia 90A, autosomal dominant
SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
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:0002144
hpo_term: Tethered cord
chpo_term: 脊髓栓系
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001052
hpo_term: Nevus flammeus
chpo_term: 鲜红斑痣
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0034353
hpo_term: Appendicular spasticity
chpo_term: 四肢痉挛
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
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
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:300243):
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE
Mental retardation, x-linked syndromic, Christianson type

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
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:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
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:0040082
hpo_term: Happy demeanor
chpo_term: 快乐举止
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011182
hpo_term: Interictal epileptiform activity
chpo_term: 发作间期癫痫样放电
id: HP:0006794
hpo_term: Loss of ability to walk in first decade
chpo_term: 10岁内行走能力丧失
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0007207
hpo_term: Photosensitive tonic-clonic seizure
chpo_term: 光敏性强直阵挛发作
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
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:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0012736
hpo_term: Profound global developmental delay
chpo_term: 严重的全脑发育迟缓
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0002529
hpo_term: Neuronal loss in central nervous system
chpo_term: 中枢神经系统神经元损失
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0006887
hpo_term: Intellectual disability, progressive
chpo_term: 进行性智力障碍
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0001238
hpo_term: Slender finger
chpo_term: 手指细长
Disease (OMIM:250460):
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
Metaphyseal dysplasia without hypotrichosis

Associated phenotypes (HPO):
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0031367
hpo_term: Metaphyseal striations
chpo_term: 干骺端条纹
id: HP:0100255
hpo_term: Metaphyseal dysplasia
chpo_term: 干骺端发育不良
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0010230
hpo_term: Cone-shaped epiphyses of the phalanges of the hand
chpo_term: 指骨锥形骨骺
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006028
hpo_term: Metaphyseal cupping of metacarpals
chpo_term: 掌骨杯状干骺端
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常
Disease (OMIM:314550):
VESICOURETERAL REFLUX, X-LINKED
Vesicoureteral reflux, X-linked

Associated phenotypes (HPO):
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
Disease (OMIM:620370):
RECON progeroid syndrome
RECON PROGEROID SYNDROME

Associated phenotypes (HPO):
id: HP:0008407
hpo_term: Hyperconvex thumb nails
chpo_term: 拇指甲面异常凸起
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0033505
hpo_term: Livedo reticularis
chpo_term: 网状青斑
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0000418
hpo_term: Narrow nasal ridge
chpo_term: 鼻脊狭窄
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0025337
hpo_term: Red eye
chpo_term: 红眼
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000696
hpo_term: Delayed eruption of permanent teeth
chpo_term: 恒牙萌出延迟
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0005328
hpo_term: Progeroid facial appearance
chpo_term: 早衰面容
id: HP:0007646
hpo_term: Absent lower eyelashes
chpo_term: 下睫毛缺失
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0010759
hpo_term: Prominence of the premaxilla
chpo_term: 前颌骨突出
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0009907
hpo_term: Attached earlobe
chpo_term: 附耳垂
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0032524
hpo_term: Long thumb
chpo_term: 长拇指
id: HP:0032152
hpo_term: Keratosis pilaris
chpo_term: 毛囊角化症
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
Disease (OMIM:126200):
MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO
Multiple sclerosis, susceptibility to

Associated phenotypes (HPO):
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000019
hpo_term: Urinary hesitancy
chpo_term: 排尿踌躇
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0007305
hpo_term: CNS demyelination
chpo_term: 中枢神经系统脱髓鞘
Disease (OMIM:620358):
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A

Associated phenotypes (HPO):
id: HP:0006846
hpo_term: Acute encephalopathy
chpo_term: 急性脑病
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0003572
hpo_term: Low plasma citrulline
chpo_term: 低血浆瓜氨酸
id: HP:0002385
hpo_term: Paraparesis
chpo_term: 下肢轻瘫
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0008358
hpo_term: Hyperprolinemia
chpo_term: 高脯氨酸血症
id: HP:0500149
hpo_term: Hyperglutamatemia
chpo_term: 高谷氨酸血症
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003348
hpo_term: Hyperalaninemia
chpo_term: 高丙氨酸血症
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0005961
hpo_term: Hypoargininemia
chpo_term: 低精氨酸血症
id: HP:0002497
hpo_term: Spastic ataxia
chpo_term: 痉挛性共济失调
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002154
hpo_term: Hyperglycinemia
chpo_term: 高甘氨酸血症
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0003218
hpo_term: Oroticaciduria
chpo_term: 乳清酸尿症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
Disease (OMIM:311400):
Paine syndrome
PAINE SYNDROME

Associated phenotypes (HPO):
id: HP:0006955
hpo_term: Olivopontocerebellar hypoplasia
chpo_term: 橄榄桥脑小脑发育不全
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
Disease (OMIM:122700):
COUMARIN RESISTANCE
Coumarin resistance

Associated phenotypes (HPO):
id: HP:0001871
hpo_term: Abnormality of blood and blood-forming tissues
chpo_term: 血液和造血组织异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:211400):
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
Bronchiectasis with or without elevated sweat chloride 1

Associated phenotypes (HPO):
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0012092
hpo_term: Abnormality of exocrine pancreas physiology
chpo_term: 胰腺外分泌生理功能异常
id: HP:0012236
hpo_term: Elevated sweat chloride
chpo_term: 汗液氯化物浓度升高
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0004469
hpo_term: Chronic bronchitis
chpo_term: 慢性支气管炎
Disease (OMIM:615491):
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
Spastic paraplegia 79, autosomal recessive

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0002486
hpo_term: Myotonia
chpo_term: 肌强直
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002180
hpo_term: Neurodegeneration
chpo_term: 神经变性
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002599
hpo_term: Head titubation
chpo_term: 点头
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002411
hpo_term: Myokymia
chpo_term: 肌纤维颤搐
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0006938
hpo_term: Impaired vibration sensation at ankles
chpo_term: 脚踝振动觉障碍
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0031993
hpo_term: Hoffmann sign
chpo_term: Hoffmann征
id: HP:0034008
hpo_term: Opto-chiasmatic atrophy
chpo_term: 视交叉萎缩
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0010831
hpo_term: Impaired proprioception
chpo_term: 本体感觉障碍
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
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:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (OMIM:616198):
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
Combined oxidative phosphorylation deficiency 23

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0011923
hpo_term: Decreased activity of mitochondrial complex I
chpo_term: 线粒体复合物I活性降低
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0008347
hpo_term: Decreased activity of mitochondrial complex IV
chpo_term: 线粒体复合物IV活性降低
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0003688
hpo_term: Cytochrome C oxidase-negative muscle fibers
chpo_term: 细胞色素C氧化酶阴性肌肉纤维
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:607095):
Anauxetic dysplasia 1
ANAUXETIC DYSPLASIA 1

Associated phenotypes (HPO):
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001552
hpo_term: Barrel-shaped chest
chpo_term: 桶状胸
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002341
hpo_term: Cervical cord compression
chpo_term: 颈脊髓压迫症
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002680
hpo_term: J-shaped sella turcica
chpo_term: J形蝶鞍
id: HP:0010585
hpo_term: Small epiphyses
chpo_term: 小骨骺
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0003308
hpo_term: Cervical subluxation
chpo_term: 颈椎半脱位
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000946
hpo_term: Hypoplastic ilia
chpo_term: 髂骨发育不全
id: HP:0034198
hpo_term: Second trimester onset
chpo_term: 孕中期起病
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002942
hpo_term: Thoracic kyphosis
chpo_term: 胸椎后凸
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0001216
hpo_term: Delayed ossification of carpal bones
chpo_term: 腕骨骨化延迟
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0003414
hpo_term: Atlantoaxial dislocation
chpo_term: 寰枢椎脱位
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
Disease (OMIM:300519):
MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE
Mental retardation, X-linked, syndromic, Martin-Probst type

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000041
hpo_term: Chordee
chpo_term: 阴茎下曲
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0002557
hpo_term: Hypoplastic nipples
chpo_term: 乳头发育不良
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
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:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
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:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:601382):
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1
Charcot-Marie-Tooth disease, type 4B1

Associated phenotypes (HPO):
id: HP:0007208
hpo_term: Irregular myelin loops
chpo_term: 髓鞘不规则环
id: HP:0004336
hpo_term: Myelin outfoldings
chpo_term: 髓鞘外折
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0006958
hpo_term: Abnormal auditory evoked potentials
chpo_term: 听觉诱发电位异常
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
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:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力