TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:615553):
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
Arthrogryposis, mental retardation, and seizures

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0008807
hpo_term: Acetabular dysplasia
chpo_term: 髋臼发育不良
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0011153
hpo_term: Focal motor seizure
chpo_term: 局灶性运动性癫痫发作
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0004976
hpo_term: Knee dislocation
chpo_term: 膝关节脱位
Disease (OMIM:614895):
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
Charcot-Marie-Tooth disease, demyelinating, type 4F

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:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0001604
hpo_term: Vocal cord paresis
chpo_term: 声带不全性麻痹
id: HP:0008954
hpo_term: Intrinsic hand muscle atrophy
chpo_term: 手部内在肌萎缩
id: HP:0003400
hpo_term: Basal lamina onion bulb formation
chpo_term: 基底层“洋葱头样”改变
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0003387
hpo_term: Decreased number of large peripheral myelinated nerve fibers
chpo_term: 大的周围有髓鞘神经纤维数量减少
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
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:0003383
hpo_term: Onion bulb formation
chpo_term: 洋葱球形成
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0003380
hpo_term: Decreased number of peripheral myelinated nerve fibers
chpo_term: 周围有髓神经纤维数量减少
id: HP:0010871
hpo_term: Sensory ataxia
chpo_term: 感觉性共济失调
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:613122):
CARDIOMYOPATHY, DILATED, 1CC
Cardiomyopathy, dilated, 1cc

Associated phenotypes (HPO):
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0033755
hpo_term: Increased left ventricular end-diastolic volume
chpo_term: 左心室舒张末期容量增大
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:600638):
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement

Associated phenotypes (HPO):
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0030303
hpo_term: Hypoplastic anterior commissure
chpo_term: 前连合发育不全
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0001491
hpo_term: Congenital fibrosis of extraocular muscles
chpo_term: 先天性眼外肌纤维化
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0025102
hpo_term: Dysgenesis of the basal ganglia
chpo_term: 基底节发育不良
id: HP:0012242
hpo_term: Superior rectus atrophy
chpo_term: 眼上直肌萎缩
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0012241
hpo_term: Levator palpebrae superioris atrophy
chpo_term: 上睑提肌萎缩
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001239
hpo_term: Wrist flexion contracture
chpo_term: 腕关节屈曲挛缩
id: HP:0007831
hpo_term: Nonprogressive restrictive external ophthalmoplegia
chpo_term: 非进行性限制性眼外肌麻痹
id: HP:0001477
hpo_term: Compensatory chin elevation
chpo_term: 代偿性下巴抬高
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
Disease (OMIM:618077):
Inflammatory bowel disease 29
INFLAMMATORY BOWEL DISEASE 29

Associated phenotypes (HPO):
id: HP:0100279
hpo_term: Ulcerative colitis
chpo_term: 溃疡性结肠炎
id: HP:0100280
hpo_term: Crohn's disease
chpo_term: 克罗恩氏病
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
Disease (OMIM:608264):
Deafness, congenital neurosensory, autosomal recessive 40
DEAFNESS, AUTOSOMAL RECESSIVE 40

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000399
hpo_term: Prelingual sensorineural hearing impairment
chpo_term: 学语前感音神经性听力损失
Disease (OMIM:619369):
Lymphatic malformation 10
LYMPHATIC MALFORMATION 10

Associated phenotypes (HPO):
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618063):
Ciliary dyskinesia, primary, 38
CILIARY DYSKINESIA, PRIMARY, 38

Associated phenotypes (HPO):
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0033036
hpo_term: Decreased nasal nitric oxide
chpo_term: 鼻腔一氧化氮减低
id: HP:0031245
hpo_term: Productive cough
chpo_term: 痰咳
id: HP:0011109
hpo_term: Chronic sinusitis
chpo_term: 慢性鼻窦炎
id: HP:0012259
hpo_term: Absent inner and outer dynein arms
chpo_term: 内、外动力蛋白臂缺如
id: HP:0012384
hpo_term: Rhinitis
chpo_term: 鼻炎
id: HP:0012263
hpo_term: Immotile cilia
chpo_term: 不动纤毛
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:306900):
HEMOPHILIA B
Hemophilia B

Associated phenotypes (HPO):
id: HP:0005542
hpo_term: Prolonged whole-blood clotting time
chpo_term: 全血凝血时间延长
id: HP:0011858
hpo_term: Reduced factor IX activity
chpo_term: 凝血因子IX活性减低
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0005261
hpo_term: Joint hemorrhage
chpo_term: 关节出血
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0001934
hpo_term: Persistent bleeding after trauma
chpo_term: 创伤后持续性出血
id: HP:0002249
hpo_term: Melena
chpo_term: 黑便
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
id: HP:0002248
hpo_term: Hematemesis
chpo_term: 呕血
Disease (OMIM:617350):
Epileptic encephalopathy, early infantile, 52
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0006813
hpo_term: Focal hemiclonic seizure
chpo_term: 局灶性偏侧阵挛发作
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0007270
hpo_term: Atypical absence seizure
chpo_term: 非典型失神发作
id: HP:0007281
hpo_term: Developmental stagnation
chpo_term: 发育停滞
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:611721):
Combined saposin deficiency
COMBINED SAPOSIN DEFICIENCY

Associated phenotypes (HPO):
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0004343
hpo_term: Abnormal glycosphingolipid metabolism
chpo_term: 鞘糖脂代谢异常
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0011169
hpo_term: Generalized clonic seizure
chpo_term: 全面性阵挛性发作
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
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:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0007305
hpo_term: CNS demyelination
chpo_term: 中枢神经系统脱髓鞘
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:146350):
Hypophosphatemic bone disease
HYPOPHOSPHATEMIC BONE DISEASE

Associated phenotypes (HPO):
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
Disease (OMIM:614881):
Spinal muscular atrophy, distal, autosomal recessive, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5

Associated phenotypes (HPO):
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:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
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:0007269
hpo_term: Spinal muscular atrophy
chpo_term: 脊肌萎缩
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
Disease (OMIM:616728):
CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES
Cleft palate, psychomotor retardation, and distinctive facial features

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:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002144
hpo_term: Tethered cord
chpo_term: 脊髓栓系
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0000041
hpo_term: Chordee
chpo_term: 阴茎下曲
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:0012430
hpo_term: Cerebral white matter hypoplasia
chpo_term: 脑白质发育不良
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0006895
hpo_term: Lower limb hypertonia
chpo_term: 下肢肌张力增高
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
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:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
Disease (OMIM:610359):
RETINITIS PIGMENTOSA 33
Retinitis pigmentosa 33

Associated phenotypes (HPO):
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0007722
hpo_term: Retinal pigment epithelial atrophy
chpo_term: 视网膜色素上皮萎缩
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:608516):
Major depressive disorder
MAJOR DEPRESSIVE DISORDER

Associated phenotypes (HPO):
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0010982
hpo_term: Polygenic inheritance
chpo_term: 多基因遗传
Disease (OMIM:607625):
Niemann-pick disease, type C2
NIEMANN-PICK DISEASE, TYPE C2

Associated phenotypes (HPO):
id: HP:0003651
hpo_term: Foam cells
chpo_term: 泡沫细胞
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001791
hpo_term: Fetal ascites
chpo_term: 胎儿腹水
id: HP:0001791
hpo_term: Fetal ascites
chpo_term: 胎儿腹水
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002185
hpo_term: Neurofibrillary tangles
chpo_term: 神经原纤维缠结
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0003349
hpo_term: Low cholesterol esterification rate
chpo_term: 低胆固醇酯化率
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000511
hpo_term: Vertical supranuclear gaze palsy
chpo_term: 垂直性核上性凝视麻痹
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0003640
hpo_term: CNS foam cells
chpo_term: 中枢神经系统泡沫细胞
id: HP:0001982
hpo_term: Sea-blue histiocytosis
chpo_term: 海蓝色组织细胞增多症
id: HP:0004333
hpo_term: Bone-marrow foam cells
chpo_term: 骨髓泡沫细胞
id: HP:0030223
hpo_term: Perseveration
chpo_term: 持续症现象
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:0002371
hpo_term: Loss of speech
chpo_term: 言语不能
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002524
hpo_term: Cataplexy
chpo_term: 猝倒症
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
Disease (OMIM:613678):
Brachyolmia type 2
BRACHYOLMIA TYPE 2

Associated phenotypes (HPO):
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
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
Disease (OMIM:191420):
ULNA METAPHYSEAL DYSPLASIA SYNDROME
Ulna metaphyseal dysplasia syndrome

Associated phenotypes (HPO):
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0030836
hpo_term: Wrist pain
chpo_term: 手腕关节痛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619433):
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6
Cardiomyopathy, familial restrictive, 6

Associated phenotypes (HPO):
id: HP:4000148
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001723
hpo_term: Restrictive cardiomyopathy
chpo_term: 限制型心肌病
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0010444
hpo_term: Pulmonary insufficiency
chpo_term: 肺动脉瓣关闭不全
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0034548
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
Disease (OMIM:609620):
Short QT syndrome 1
SHORT QT SYNDROME 1

Associated phenotypes (HPO):
id: HP:0012232
hpo_term: Shortened QT interval
chpo_term: QT间期缩短
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0004757
hpo_term: Paroxysmal atrial fibrillation
chpo_term: 阵发性房颤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
Disease (OMIM:234030):
Hair defect with photosensitivity and mental retardation
HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION

Associated phenotypes (HPO):
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
Disease (OMIM:308905):
Leber optic atrophy, susceptibility to
LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF

Associated phenotypes (HPO):
id: HP:0001112
hpo_term: Leber optic atrophy
chpo_term: Leber视神经萎缩
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
Disease (OMIM:619355):
Mitochondrial complex IV deficiency, nuclear type 22
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
id: HP:0012707
hpo_term: Elevated brain lactate level by MRS
chpo_term: MRS发现乳酸水平升高
id: HP:0033444
hpo_term: Elevated circulating dodecanoylcarnitine concentration
chpo_term: 循环十二碳酰肉碱浓度升高
id: HP:0033465
hpo_term: Elevated circulating tetradecanoylcarnitine concentration
chpo_term: 循环肉豆蔻酰肉碱水平身高
id: HP:0002181
hpo_term: Cerebral edema
chpo_term: 脑水肿
id: HP:0012704
hpo_term: Widened subarachnoid space
chpo_term: 蛛网膜下腔增宽
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0012402
hpo_term: Increased urine alpha-ketoglutarate concentration
chpo_term: 尿α-酮戊二酸浓度增高
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
id: HP:0012470
hpo_term: Setting-sun eye phenomenon
chpo_term: 落日眼现象
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0008358
hpo_term: Hyperprolinemia
chpo_term: 高脯氨酸血症
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003348
hpo_term: Hyperalaninemia
chpo_term: 高丙氨酸血症
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0003542
hpo_term: Increased serum pyruvate
chpo_term: 血清丙酮酸增高
id: HP:0008160
hpo_term: 3-hydroxydicarboxylic aciduria
chpo_term: 3羟基二羧酸尿症
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:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
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:0003219
hpo_term: Ethylmalonic aciduria
chpo_term: 乙基丙二酸尿症
id: HP:0003217
hpo_term: Hyperglutaminemia
chpo_term: 高谷氨酰胺血症
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0004900
hpo_term: Severe lactic acidosis
chpo_term: 重度乳酸酸中毒
id: HP:0008527
hpo_term: Congenital sensorineural hearing impairment
chpo_term: 先天性感音神经性听力障碍
id: HP:0003215
hpo_term: Dicarboxylic aciduria
chpo_term: 二羧酸尿症