TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:256800):
INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
Insensitivity to pain, congenital, with anhidrosis

Associated phenotypes (HPO):
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0001058
hpo_term: Poor wound healing
chpo_term: 伤口愈合不良
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0012804
hpo_term: Corneal ulceration
chpo_term: 角膜溃疡
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0100725
hpo_term: Lichenification
chpo_term: 苔藓样变
id: HP:0007460
hpo_term: Autoamputation of digits
chpo_term: 手指（足趾）自发性离断
id: HP:0007021
hpo_term: Pain insensitivity
chpo_term: 疼痛不敏感
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0002715
hpo_term: Abnormality of the immune system
chpo_term: 免疫系统异常
id: HP:0000559
hpo_term: Corneal scarring
chpo_term: 角膜瘢痕
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0005307
hpo_term: Postural hypotension with compensatory tachycardia
chpo_term: 体位性低血压伴代偿性心动过速
id: HP:0007249
hpo_term: Decreased number of small peripheral myelinated nerve fibers
chpo_term: 小的周围有髓鞘神经纤维数量减少
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0000495
hpo_term: Recurrent corneal erosions
chpo_term: 复发性角膜糜烂
id: HP:0000970
hpo_term: Anhidrosis
chpo_term: 无汗症
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0006121
hpo_term: Acral ulceration
chpo_term: 肢端溃疡
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002821
hpo_term: Neuropathic arthropathy
chpo_term: 神经性关节病
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残
Disease (OMIM:605711):
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
Multiple mitochondrial dysfunctions syndrome 1

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012402
hpo_term: Increased urine alpha-ketoglutarate concentration
chpo_term: 尿α-酮戊二酸浓度增高
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:0008972
hpo_term: Decreased activity of mitochondrial respiratory chain
chpo_term: 线粒体呼吸链活性降低
id: HP:0410309
hpo_term: Alpha-aminoadipic aciduria
chpo_term: α-氨基己二酸尿症
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0003648
hpo_term: Lacticaciduria
chpo_term: 乳酸血症
id: HP:0008314
hpo_term: Decreased activity of mitochondrial complex II
chpo_term: 线粒体复合物II活性降低
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0003108
hpo_term: Hyperglycinuria
chpo_term: 高甘氨酸尿症
id: HP:0004911
hpo_term: Episodic metabolic acidosis
chpo_term: 阵发性代谢性酸中毒
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:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0033418
hpo_term: Elevated circulating 2-hydroxybutyric acid concentration
chpo_term: 循环2-羟基丁酸浓度升高
id: HP:0007209
hpo_term: Facial paralysis
chpo_term: 面瘫
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
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:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
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:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0500230
hpo_term: Increased CSF glycine concentration
chpo_term: 脑脊液甘氨酸浓度升高
id: HP:0033044
hpo_term: Motor regression
chpo_term: 运动倒退
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:619338):
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY
Cataracts, spastic paraparesis, and speech delay

Associated phenotypes (HPO):
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0033051
hpo_term: Impaired executive functioning
chpo_term: 执行功能受损
id: HP:0011172
hpo_term: Complex febrile seizure
chpo_term: 复杂性高热惊厥
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0011153
hpo_term: Focal motor seizure
chpo_term: 局灶性运动性癫痫发作
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
Disease (OMIM:617315):
ANTERIOR SEGMENT DYSGENESIS 6
Anterior segment dysgenesis 6, multiple subtypes

Associated phenotypes (HPO):
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0011490
hpo_term: Abnormal Descemet membrane morphology
chpo_term: 角膜后弹力层形态异常
id: HP:0011496
hpo_term: Corneal neovascularization
chpo_term: 角膜新生血管
id: HP:0001087
hpo_term: Developmental glaucoma
chpo_term: 发育性青光眼
id: HP:0011484
hpo_term: Posterior synechiae of the anterior chamber
chpo_term: 虹膜后粘连
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:600669):
EPILEPSY, IDIOPATHIC GENERALIZED
Epilepsy, idiopathic generalized

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0010849
hpo_term: EEG with spike-wave complexes (>3.5 Hz)
chpo_term: 大于3.5赫兹棘慢复合波脑电图
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:269400):
ANTERIOR SEGMENT DYSGENESIS 7
Corneal opacification with other ocular anomalies

Associated phenotypes (HPO):
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0011483
hpo_term: Anterior synechiae of the anterior chamber
chpo_term: 前房前粘连
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000557
hpo_term: Buphthalmos
chpo_term: 爆裂眼
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000647
hpo_term: Sclerocornea
chpo_term: 角膜巩膜化
id: HP:0007700
hpo_term: Ocular anterior segment dysgenesis
chpo_term: 眼球前段发育不全
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:619310):
Leukodystrophy, hypomyelinating, 21
LEUKODYSTROPHY, HYPOMYELINATING, 21

Associated phenotypes (HPO):
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0001946
hpo_term: Ketosis
chpo_term: 酮症
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
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:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0007371
hpo_term: Corpus callosum atrophy
chpo_term: 胼胝体萎缩
id: HP:0033044
hpo_term: Motor regression
chpo_term: 运动倒退
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:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
Disease (OMIM:308940):
Leiomyomatosis, diffuse, with alport syndrome
LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0030034
hpo_term: Glomerular basement membrane lamellation
chpo_term: 薄肾小球基底膜病
id: HP:0012211
hpo_term: Abnormal renal physiology
chpo_term: 肾脏生理异常
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0025710
hpo_term: Late young adult onset
chpo_term: 青年成人晚期起病
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0006756
hpo_term: Diffuse leiomyomatosis
chpo_term: 弥漫性平滑肌瘤病
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001142
hpo_term: Lenticonus
chpo_term: 圆锥形晶状体
id: HP:0011501
hpo_term: Anterior lenticonus
chpo_term: 前圆锥形晶状体
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0002907
hpo_term: Microscopic hematuria
chpo_term: 镜下血尿症
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001757
hpo_term: High-frequency sensorineural hearing impairment
chpo_term: 高频感音神经性听力障碍
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0006524
hpo_term: Tracheobronchial leiomyomatosis
chpo_term: 气管，支气管平滑肌瘤病
id: HP:0004722
hpo_term: Thickened glomerular basement membrane
chpo_term: 肾小球基底膜增厚
Disease (OMIM:224500):
Dystonia 2, torsion, autosomal recessive
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001304
hpo_term: Torsion dystonia
chpo_term: 扭转性肌张力障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
Disease (OMIM:618768):
SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE
Spastic paraplegia 81, autosomal recessive

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0030891
hpo_term: Periventricular white matter hyperintensities
chpo_term: 脑室旁白质高信号
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012841
hpo_term: Retinal vascular tortuosity
chpo_term: 视网膜血管迂曲
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0033044
hpo_term: Motor regression
chpo_term: 运动倒退
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:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0006986
hpo_term: Upper limb spasticity
chpo_term: 上肢痉挛
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:619476):
Joubert syndrome 38
JOUBERT SYNDROME 38

Associated phenotypes (HPO):
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0030353
hpo_term: Decreased serum insulin-like growth factor 1
chpo_term: 血清胰岛素样生长因子-1（IGF1）水平降低
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:0011755
hpo_term: Ectopic posterior pituitary
chpo_term: 垂体后叶异位
id: HP:0012506
hpo_term: Small pituitary gland
chpo_term: 垂体缩小
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0007068
hpo_term: Inferior cerebellar vermis hypoplasia
chpo_term: 下小脑蚓发育不全
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:614152):
Deafness, autosomal dominant 64
DEAFNESS, AUTOSOMAL DOMINANT 64

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:113300):
Brachydactyly, type E
BRACHYDACTYLY, TYPE E1

Associated phenotypes (HPO):
id: HP:0008848
hpo_term: Moderately short stature
chpo_term: 中度身材矮小
id: HP:0005863
hpo_term: Type E brachydactyly
chpo_term: E型短指（趾）
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001571
hpo_term: Multiple impacted teeth
chpo_term: 多个阻生齿
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0006587
hpo_term: Straight clavicles
chpo_term: 锁骨平直
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000894
hpo_term: Short clavicles
chpo_term: 短锁骨
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
Disease (OMIM:619462):
HEMOLYTIC DISEASE OF FETUS AND NEWBORN, RH-INDUCED
Hemolytic disease of fetus and newborn, RH-induced

Associated phenotypes (HPO):
id: HP:0025671
hpo_term: Fetal pericardial effusion
chpo_term: 胎儿心包积液
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001343
hpo_term: Kernicterus
chpo_term: 核黄疸
id: HP:0025676
hpo_term: Fetal pleural effusion
chpo_term: 胎儿胸腔积液
id: HP:0001791
hpo_term: Fetal ascites
chpo_term: 胎儿腹水
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
Disease (OMIM:619304):
Pontocerebellar hypoplasia, type 1F
PONTOCEREBELLAR HYPOPLASIA, TYPE 1F

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
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:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
Disease (OMIM:616037):
CILIARY DYSKINESIA, PRIMARY, 30
Ciliary dyskinesia, primary, 30

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
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:0002099
hpo_term: Asthma
chpo_term: 哮喘
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:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0100582
hpo_term: Nasal polyposis
chpo_term: 鼻息肉
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0011109
hpo_term: Chronic sinusitis
chpo_term: 慢性鼻窦炎
id: HP:0200073
hpo_term: Respiratory insufficiency due to defective ciliary clearance
chpo_term: 纤毛清除缺陷所致呼吸功能不全
id: HP:0012265
hpo_term: Ciliary dyskinesia
chpo_term: 纤毛运动异常
id: HP:0012256
hpo_term: Absent outer dynein arms
chpo_term: 外动力蛋白臂缺失
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0001742
hpo_term: Nasal congestion
chpo_term: 鼻塞
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0004469
hpo_term: Chronic bronchitis
chpo_term: 慢性支气管炎
Disease (OMIM:193500):
WAARDENBURG SYNDROME, TYPE 1
Waardenburg syndrome, type 1

Associated phenotypes (HPO):
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0003250
hpo_term: Aplasia of the vagina
chpo_term: 阴道发育不全
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000635
hpo_term: Blue irides
chpo_term: 蓝色虹膜
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0007443
hpo_term: Partial albinism
chpo_term: 白点病；斑驳病；斑状白斑病；斑状白癜风；斑状白化病；
id: HP:0000912
hpo_term: Sprengel anomaly
chpo_term: 先天性肩胛骨向上移位（Sprengel畸形）
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0001100
hpo_term: Heterochromia iridis
chpo_term: 虹膜异色
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0002211
hpo_term: White forelock
chpo_term: 额发变白
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0007990
hpo_term: Hypoplastic iris stroma
chpo_term: 虹膜基质发育不全
id: HP:0002946
hpo_term: Supernumerary vertebrae
chpo_term: 额外椎骨
id: HP:0007894
hpo_term: Hypopigmentation of the fundus
chpo_term: 眼底的色素沉着不足
id: HP:0005815
hpo_term: Supernumerary ribs
chpo_term: 多余肋
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0002227
hpo_term: White eyelashes
chpo_term: 白睫
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
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:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0002226
hpo_term: White eyebrow
chpo_term: 白眉
Disease (OMIM:236110):
HOLZGREVE SYNDROME
Holzgreve syndrome

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0001161
hpo_term: Hand polydactyly
chpo_term: 多指
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
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