TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:300884):
Epileptic encephalopathy, early infantile, 36
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
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: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:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
id: HP:0003642
hpo_term: Type I transferrin isoform profile
chpo_term: I型转铁蛋白异构体谱
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残
Disease (OMIM:619688):
LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY
Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy

Associated phenotypes (HPO):
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
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:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:605289):
Split-Hand/foot malformation 4
SPLIT-HAND/FOOT MALFORMATION 4

Associated phenotypes (HPO):
id: HP:0010173
hpo_term: Aplasia/Hypoplasia of the phalanges of the toes
chpo_term: 趾骨发育不良或发育不全
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0100257
hpo_term: Ectrodactyly
chpo_term: 缺趾/指畸形
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0005914
hpo_term: Aplasia/Hypoplasia involving the metacarpal bones
chpo_term: 掌骨发育不全或发育低下
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0009767
hpo_term: Aplasia/Hypoplasia of the phalanges of the hand
chpo_term: 指骨发育不良/发育不全
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001964
hpo_term: Aplasia/Hypoplasia of metatarsal bones
chpo_term: 跖骨发育不良/发育不全
Disease (OMIM:620021):
Intellectual developmental disorder with autism and dysmorphic facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0100023
hpo_term: Recurrent hand flapping
chpo_term: 反复用手拍打
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:619878):
Spermatogenic failure 73
SPERMATOGENIC FAILURE 73

Associated phenotypes (HPO):
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0031038
hpo_term: Spermatogenesis maturation arrest
chpo_term: 生精成熟阻滞
id: HP:0011961
hpo_term: Non-obstructive azoospermia
chpo_term: 非梗阻性无精症
Disease (OMIM:100800):
ACHONDROPLASIA
Achondroplasia

Associated phenotypes (HPO):
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0005733
hpo_term: Spinal stenosis with reduced interpedicular distance
chpo_term: 椎管狭窄伴椎弓根间距缩短
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0001355
hpo_term: Megalencephaly
chpo_term: 巨脑
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:0002761
hpo_term: Generalized joint laxity
chpo_term: 周身关节松弛
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0003375
hpo_term: Narrow greater sciatic notch
chpo_term: 坐骨大切迹变窄
id: HP:0002781
hpo_term: Upper airway obstruction
chpo_term: 上气道阻塞
id: HP:0003097
hpo_term: Short femur
chpo_term: 短股骨
id: HP:0003031
hpo_term: Ulnar bowing
chpo_term: 尺骨弯曲
id: HP:0003093
hpo_term: Limited hip extension
chpo_term: 髋关节伸展受限
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0004060
hpo_term: Trident hand
chpo_term: 三叉手
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
id: HP:0008450
hpo_term: Narrow vertebral interpedicular distance
chpo_term: 椎弓根间隙变窄
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0008414
hpo_term: Lumbar kyphosis in infancy
chpo_term: 婴儿期腰椎后凸
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:0001788
hpo_term: Premature rupture of membranes
chpo_term: 胎膜早破
id: HP:0002512
hpo_term: Brain stem compression
chpo_term: 脑干受压
id: HP:0002677
hpo_term: Small foramen magnum
chpo_term: 枕大孔狭窄
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000452
hpo_term: Choanal stenosis
chpo_term: 鼻后孔狭窄
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:6000920
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:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
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:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620747):
Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities
NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES

Associated phenotypes (HPO):
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0031825
hpo_term: Freezing of gait
chpo_term: 冻结步态
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002362
hpo_term: Shuffling gait
chpo_term: 曳行步态
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0100786
hpo_term: Hypersomnia
chpo_term: 过度睡眠
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0032121
hpo_term: Froment sign
chpo_term: Froment征
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0000711
hpo_term: Restlessness
chpo_term: 坐立不安
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
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:0003763
hpo_term: Bruxism
chpo_term: 磨牙症
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:5200321
id: HP:0002396
hpo_term: Cogwheel rigidity
chpo_term: 齿轮样强直
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:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
Disease (OMIM:615924):
Encephalopathy, progressive, with or without lipodystrophy
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
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:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002371
hpo_term: Loss of speech
chpo_term: 言语不能
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
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:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:613399):
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
Familial breast-ovarian cancer-1

Associated phenotypes (HPO):
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0025318
hpo_term: Ovarian carcinoma
chpo_term: 卵巢癌
Disease (OMIM:300106):
Spondyloepimetaphyseal dysplasia, X-linked
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED

Associated phenotypes (HPO):
id: HP:0006009
hpo_term: Broad phalanx
chpo_term: 指（趾）骨增宽
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0003311
hpo_term: Hypoplasia of the odontoid process
chpo_term: 齿状突发育不全
id: HP:0003275
hpo_term: Narrow pelvis bone
chpo_term: 骨盆狭窄
id: HP:0004981
hpo_term: Prominent styloid process of ulna
chpo_term: 尺骨茎突突出
id: HP:0001230
hpo_term: Broad metacarpals
chpo_term: 掌骨变宽
id: HP:0004000
hpo_term: Cone-shaped distal radial epiphysis
chpo_term: 桡骨远端锥形骨骺
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0006371
hpo_term: Broad long bone diaphyses
chpo_term: 长骨骨干变宽
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:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0009486
hpo_term: Radial deviation of the hand
chpo_term: 手桡侧偏斜
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0006059
hpo_term: Cone-shaped metacarpal epiphyses
chpo_term: 掌骨锥形骨骺
id: HP:0003988
hpo_term: Long ulna
chpo_term: 长尺骨
id: HP:0000894
hpo_term: Short clavicles
chpo_term: 短锁骨
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0003521
hpo_term: Disproportionate short-trunk short stature
chpo_term: 不成比例的短躯干性矮小
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0005622
hpo_term: Broad long bones
chpo_term: 长骨增宽
id: HP:0004379
hpo_term: Abnormality of alkaline phosphatase level
chpo_term: 碱性磷酸酶活性异常
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0002651
hpo_term: Spondyloepimetaphyseal dysplasia
chpo_term: 脊椎干骺端发育不良
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:0004573
hpo_term: Anterior wedging of T11
chpo_term: 胸11椎体前部楔形
id: HP:0005066
hpo_term: Cone-shaped epiphyses fused within their metaphyses
chpo_term: 干骺端融合的锥形骨骺
id: HP:0003085
hpo_term: Long fibula
chpo_term: 长腓骨
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
id: HP:0011940
hpo_term: Anterior wedging of T12
chpo_term: 第12胸椎体前侧楔形
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0002869
hpo_term: Flared iliac wing
chpo_term: 喇叭状髂骨翼
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000922
hpo_term: Posterior rib cupping
chpo_term: 杯状后肋
id: HP:0001216
hpo_term: Delayed ossification of carpal bones
chpo_term: 腕骨骨化延迟
Disease (OMIM:264480):
PSEUDOTRISOMY 13 SYNDROME
Pseudotrisomy 13 syndrome

Associated phenotypes (HPO):
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0009914
hpo_term: Cyclopia
chpo_term: 独眼
id: HP:0001674
hpo_term: Complete atrioventricular canal defect
chpo_term: 完全性房室通道缺损
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:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0000161
hpo_term: Median cleft lip
chpo_term: 正中唇裂
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:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0011662
hpo_term: Tricuspid atresia
chpo_term: 三尖瓣闭锁
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000813
hpo_term: Bicornuate uterus
chpo_term: 双角子宫
id: HP:0000835
hpo_term: Adrenal hypoplasia
chpo_term: 肾上腺发育不良
id: HP:0000878
hpo_term: 11 pairs of ribs
chpo_term: 11对肋骨
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
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:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0009099
hpo_term: Median cleft palate
chpo_term: 正中腭裂
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
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:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
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
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
Disease (OMIM:614390):
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2
Pregnancy loss, recurrent, susceptibility to, 2

Associated phenotypes (HPO):
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0200067
hpo_term: Recurrent spontaneous abortion
chpo_term: 复发性自然流产
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:211180):
Bowen-Conradi syndrome
BOWEN-CONRADI SYNDROME

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001367
hpo_term: Abnormal joint morphology
chpo_term: 关节形态异常
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:610069):
POLYPOSIS SYNDROME, HEREDITARY MIXED, 2
Polyposis syndrome, hereditary mixed, 2

Associated phenotypes (HPO):
id: HP:0005227
hpo_term: Adenomatous colonic polyposis
chpo_term: 腺瘤性结肠息肉病
id: HP:0012198
hpo_term: Juvenile colonic polyposis
chpo_term: 幼年性结肠息肉病
id: HP:0003003
hpo_term: Colon cancer
chpo_term: 结肠癌
id: HP:0012183
hpo_term: Hyperplastic colonic polyposis
chpo_term: 增生性结肠息肉病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617706):
SPERMATOGENIC FAILURE 22
Spermatogenic failure 22

Associated phenotypes (HPO):
id: HP:0030974
hpo_term: Cryptozoospermia
chpo_term: 隐匿精子症
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0011961
hpo_term: Non-obstructive azoospermia
chpo_term: 非梗阻性无精症
Disease (OMIM:618435):
ARTHROGRYPOSIS, DISTAL, TYPE 2B2
Arthrogryposis, distal, type 2B2

Associated phenotypes (HPO):
id: HP:0003049
hpo_term: Ulnar deviation of the wrist
chpo_term: 手腕向尺侧偏斜
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
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:0001772
hpo_term: Talipes equinovalgus
chpo_term: 马蹄外翻足
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0010557
hpo_term: Overlapping fingers
chpo_term: 指交叠
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
Disease (OMIM:616418):
Hypomagnesemia, seizures, and mental retardation
HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1

Associated phenotypes (HPO):
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: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:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0002917
hpo_term: Hypomagnesemia
chpo_term: 低镁血症
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0100954
hpo_term: Open operculum
chpo_term: 岛盖张开
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0025501
hpo_term: Class III obesity
chpo_term: 三级肥胖
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:611377):
BRACHYDACTYLY, TYPE B2
Brachydactyly, type B2

Associated phenotypes (HPO):
id: HP:0006109
hpo_term: Absent phalangeal crease
chpo_term: 指节间皮肤折痕缺如
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0010621
hpo_term: Cutaneous syndactyly of toes
chpo_term: 脚趾皮肤性并趾
id: HP:0010554
hpo_term: Cutaneous finger syndactyly
chpo_term: 手指皮肤性并指
id: HP:0010194
hpo_term: Aplasia/Hypoplasia of the middle phalanges of the toes
chpo_term: 中节趾骨发育不全或发育不良
id: HP:0010034
hpo_term: Short 1st metacarpal
chpo_term: 第一掌骨短
id: HP:0006152
hpo_term: Proximal symphalangism of hands
chpo_term: 近端指间关节融合
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0008386
hpo_term: Aplasia/Hypoplasia of the nails
chpo_term: 甲发育缺陷/不全
id: HP:0010185
hpo_term: Aplasia/Hypoplasia of the distal phalanges of the toes
chpo_term: 末节趾骨发育不良/发育不全
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0009843
hpo_term: Aplasia/Hypoplasia of the middle phalanges of the hand
chpo_term: 中节指骨发育不良/发育不全
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
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:0009835
hpo_term: Aplasia/Hypoplasia of the distal phalanges of the hand
chpo_term: 末节指骨发育不良/发育不全
id: HP:0001204
hpo_term: Distal symphalangism of hands
chpo_term: 远端指间关节融合