TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:607225):
SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING
Spastic paralysis, infantile-onset ascending

Associated phenotypes (HPO):
id: HP:0002366
hpo_term: Abnormal lower motor neuron morphology
chpo_term: 下运动神经元形态异常
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0005216
hpo_term: Impaired mastication
chpo_term: 咀嚼功能受损
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
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:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
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:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
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:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002492
hpo_term: Morphological abnormality of the corticospinal tract
chpo_term: 皮质脊髓束形态异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002425
hpo_term: Anarthria
chpo_term: 构音障碍
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
Disease (OMIM:609220):
BRUCK SYNDROME 2
Bruck syndrome 2

Associated phenotypes (HPO):
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:6001098
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0003080
hpo_term: Hydroxyprolinuria
chpo_term: 羟脯氨酸尿症
id: HP:6000807
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0001059
hpo_term: Pterygium
chpo_term: 翼状胬肉
Disease (OMIM:616300):
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
Short-Rib thoracic dysplasia 13 with or without polydactyly

Associated phenotypes (HPO):
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0001591
hpo_term: Bell-shaped thorax
chpo_term: 钟形胸
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0003177
hpo_term: Squared iliac bones
chpo_term: 方形髂骨
id: HP:0003375
hpo_term: Narrow greater sciatic notch
chpo_term: 坐骨大切迹变窄
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000180
hpo_term: Lobulated tongue
chpo_term: 分叶舌
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0011315
hpo_term: Unicoronal synostosis
chpo_term: 单侧冠状缝闭合
id: HP:0010297
hpo_term: Bifid tongue
chpo_term: 舌裂
id: HP:0011340
hpo_term: Incomplete cleft of the upper lip
chpo_term: 上唇不完全唇裂
id: HP:0003826
hpo_term: Stillbirth
chpo_term: 死胎
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
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:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0008839
hpo_term: Hypoplastic pelvis
chpo_term: 骨盆发育不良
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002692
hpo_term: Hypoplastic facial bones
chpo_term: 面部骨骼发育不全
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0011802
hpo_term: Hamartoma of tongue
chpo_term: 舌错构瘤
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
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:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000888
hpo_term: Horizontal ribs
chpo_term: 横位肋骨
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:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0005736
hpo_term: Short tibia
chpo_term: 短胫骨
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:619033):
VISSERS-BODMER SYNDROME
Vissers-Bodmer syndrome

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
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:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
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: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:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0040195
hpo_term: Decreased head circumference
chpo_term: 头围减小
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
Disease (OMIM:610017):
MULTIPLE SYNOSTOSES SYNDROME 2
Multiple synostoses syndrome 2

Associated phenotypes (HPO):
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002948
hpo_term: Vertebral fusion
chpo_term: 椎体融合
id: HP:0003041
hpo_term: Humeroradial synostosis
chpo_term: 肱桡骨性融合
id: HP:0009700
hpo_term: Finger symphalangism
chpo_term: 指骨骨性融合
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0009702
hpo_term: Carpal synostosis
chpo_term: 腕骨骨性融合
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0100264
hpo_term: Proximal symphalangism
chpo_term: 近端指关节融合
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
Disease (OMIM:600204):
EPIPHYSEAL DYSPLASIA, MULTIPLE, 2
Epiphyseal dysplasia, multiple, 2

Associated phenotypes (HPO):
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0005086
hpo_term: Knee osteoarthritis
chpo_term: 膝关节骨性关节炎
id: HP:0030839
hpo_term: Knee pain
chpo_term: 膝痛
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0003071
hpo_term: Flattened epiphysis
chpo_term: 扁平骨骺
id: HP:0010585
hpo_term: Small epiphyses
chpo_term: 小骨骺
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0010886
hpo_term: Osteochondritis dissecans
chpo_term: 剥脱性骨软骨炎
id: HP:0100694
hpo_term: Tibial torsion
chpo_term: 胫骨扭转
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0010582
hpo_term: Irregular epiphyses
chpo_term: 不规则骨骺
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0025238
hpo_term: Foot pain
chpo_term: 足痛
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0005715
hpo_term: Flattened knee epiphyses
chpo_term: 扁平膝骨骺
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003502
hpo_term: Mild short stature
chpo_term: 轻度身材矮小
Disease (OMIM:619755):
HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA
Hypogonadotropic hypogonadism 27 without anosmia

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0030344
hpo_term: Decreased circulating luteinizing hormone level
chpo_term: 循环黄体生成素水平降低
id: HP:0008197
hpo_term: Absence of pubertal development
chpo_term: 青春期发育缺失
id: HP:0030341
hpo_term: Decreased circulating follicle stimulating hormone concentration
chpo_term: 循环卵泡刺激素浓度降低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
id: HP:0020159
hpo_term: Reduced response to gonadotropin-releasing hormone stimulation test
chpo_term: 促性腺激素释放激素刺激应答减弱
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (OMIM:207950):
Chiari malformation type II
CHIARI MALFORMATION TYPE II

Associated phenotypes (HPO):
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0005348
hpo_term: Inspiratory stridor
chpo_term: 吸气性喘鸣
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0002483
hpo_term: Bulbar signs
chpo_term: 球部体征
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
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:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0012318
hpo_term: Occipital neuralgia
chpo_term: 枕神经痛
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0002318
hpo_term: Cervical myelopathy
chpo_term: 脊髓型颈椎病
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
Disease (OMIM:614265):
COMBINED MALONIC AND METHYLMALONIC ACIDURIA
Combined malonic and methylmalonic aciduria

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0001993
hpo_term: Ketoacidosis
chpo_term: 酮症酸中毒
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012120
hpo_term: Methylmalonic aciduria
chpo_term: 甲基丙二酸尿症
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0011169
hpo_term: Generalized clonic seizure
chpo_term: 全面性阵挛性发作
Disease (OMIM:610003):
CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002074
hpo_term: Increased neuronal autofluorescent lipopigment
chpo_term: 神经元自体荧光脂褐素增加
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000711
hpo_term: Restlessness
chpo_term: 坐立不安
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0003205
hpo_term: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
chpo_term: 自体荧光脂色素存储物质的胞内曲线堆积
Disease (OMIM:151210):
PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE
Platyspondylic lethal skeletal dysplasia, Torrance type

Associated phenotypes (HPO):
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0004565
hpo_term: Severe platyspondyly
chpo_term: 重度扁平椎
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0005451
hpo_term: Decreased cranial base ossification
chpo_term: 颅底骨化减少
id: HP:0003175
hpo_term: Hypoplastic ischia
chpo_term: 坐骨发育不全
id: HP:0003173
hpo_term: Hypoplastic pubic bone
chpo_term: 耻骨发育不全
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0200083
hpo_term: Severe limb shortening
chpo_term: 重度肢体短缩
id: HP:0008452
hpo_term: Wafer-thin platyspondyly
chpo_term: 极薄的扁平椎体
id: HP:0003826
hpo_term: Stillbirth
chpo_term: 死胎
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0003300
hpo_term: Ovoid vertebral bodies
chpo_term: 卵形椎体
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0003021
hpo_term: Metaphyseal cupping
chpo_term: 干骺端内陷
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0004591
hpo_term: Disc-like vertebral bodies
chpo_term: 盘碟状椎体
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
id: HP:0000947
hpo_term: Dumbbell-shaped long bone
chpo_term: 哑铃状长骨
id: HP:0000946
hpo_term: Hypoplastic ilia
chpo_term: 髂骨发育不全
id: HP:0005619
hpo_term: Thoracolumbar kyphosis
chpo_term: 胸腰部脊柱后凸
id: HP:0005716
hpo_term: Lethal skeletal dysplasia
chpo_term: 致死性骨骼发育不良
id: HP:0001538
hpo_term: Protuberant abdomen
chpo_term: 腹部隆凸
id: HP:0008921
hpo_term: Neonatal short-limb short stature
chpo_term: 新生儿短肢型矮小
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
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:606661):
MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2
Melanoma, uveal, susceptibility to, 2

Associated phenotypes (HPO):
id: HP:0007716
hpo_term: Uveal melanoma
chpo_term: 葡萄膜黑色素瘤
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616314):
Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency
MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0030208
hpo_term: Anti-acetylcholine receptor antibody positivity
chpo_term: 抗乙酰胆碱受体抗体阳性
id: HP:0003403
hpo_term: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
chpo_term: EMG：复合肌肉动作电位对重复神经刺激的反应递减
Disease (OMIM:619027):
SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE
Spastic paraplegia 83, autosomal recessive

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0000012
hpo_term: Urinary urgency
chpo_term: 尿急
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
Disease (OMIM:618339):
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT

Associated phenotypes (HPO):
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
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:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
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:602361):
GRACILE BONE DYSPLASIA
Gracile bone dysplasia

Associated phenotypes (HPO):
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
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:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0004331
hpo_term: Decreased skull ossification
chpo_term: 颅骨骨化减少
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0006270
hpo_term: Hypoplastic spleen
chpo_term: 脾脏发育不全
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0010296
hpo_term: Ankyloglossia
chpo_term: 舌系带短缩
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0001746
hpo_term: Asplenia
chpo_term: 无脾
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000526
hpo_term: Aniridia
chpo_term: 无虹膜
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:239100):
VAN BUCHEM DISEASE
van Buchem disease

Associated phenotypes (HPO):
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0007958
hpo_term: Optic atrophy from cranial nerve compression
chpo_term: 脑神经受压性视神经萎缩
id: HP:0000935
hpo_term: Thickened cortex of long bones
chpo_term: 长骨骨皮质增厚
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:6000749
id: HP:0004437
hpo_term: Cranial hyperostosis
chpo_term: 颅骨骨质增生
Disease (OMIM:258501):
3-METHYLGLUTACONIC ACIDURIA, TYPE III
3-methylglutaconic aciduria, type III

Associated phenotypes (HPO):
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0003344
hpo_term: 3-Methylglutaric aciduria
chpo_term: 3-甲基戊二酸尿症
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
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:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症