TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:458798):
SCA41
Spinocerebellar ataxia type 41

Associated phenotypes (HPO):
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
Disease (ORPHA:85323):
X-linked intellectual disability, Seemanova type

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0002191
hpo_term: Progressive spasticity
chpo_term: 进行性痉挛
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0009004
hpo_term: Hypoplasia of the musculature
chpo_term: 肌肉组织发育不全
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
Disease (ORPHA:85324):
MRXS9
X-linked intellectual disability, Shrimpton type

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
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:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (ORPHA:3338):
Toriello-Carey syndrome
Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome

Associated phenotypes (HPO):
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
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:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000391
hpo_term: Thickened helices
chpo_term: 耳轮增厚
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001338
hpo_term: Partial agenesis of the corpus callosum
chpo_term: 局部胼胝体发育不全
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001600
hpo_term: Abnormality of the larynx
chpo_term: 喉部异常
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
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:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0009892
hpo_term: Anotia
chpo_term: 无耳畸形
Disease (ORPHA:3339):
Oculoectodermal syndrome
Aplasia cutis congenita-epibulbar dermoids syndrome

Associated phenotypes (HPO):
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000625
hpo_term: Eyelid coloboma
chpo_term: 眼睑缺损
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000502
hpo_term: Abnormal conjunctiva morphology
chpo_term: 结膜形态异常
id: HP:0001140
hpo_term: Limbal dermoid
chpo_term: 角膜缘皮样囊肿
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001331
hpo_term: Absent septum pellucidum
chpo_term: 透明隔缺如
id: HP:0007440
hpo_term: Generalized hyperpigmentation
chpo_term: 泛发性色素沉着
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0012639
hpo_term: Abnormal nervous system morphology
chpo_term: 神经系统形态异常
id: HP:0000069
hpo_term: Abnormality of the ureter
chpo_term: 输尿管异常
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000598
hpo_term: Abnormality of the ear
chpo_term: 耳部异常
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0008749
hpo_term: Laryngeal hypoplasia
chpo_term: 喉发育不全
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000014
hpo_term: Abnormality of the bladder
chpo_term: 膀胱异常
id: HP:0000036
hpo_term: Abnormal penis morphology
chpo_term: 阴茎形态异常
id: HP:0000039
hpo_term: Epispadias
chpo_term: 尿道上裂
Disease (ORPHA:2004):
LTEC
Laryngo-tracheo-esophageal cleft
Laryngo-tracheo-esophageal diastema
LC
Laryngotracheoesophageal cleft

Associated phenotypes (HPO):
id: HP:0008751
hpo_term: Laryngeal cleft
chpo_term: 喉裂
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0001615
hpo_term: Hoarse cry
chpo_term: 声音嘶哑的哭声
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002835
hpo_term: Aspiration
chpo_term: 误吸
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0030842
hpo_term: Choking episodes
chpo_term: 窒息发作
id: HP:0031162
hpo_term: Impaired oropharyngeal swallow response
chpo_term: 吞咽反应障碍
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
Disease (ORPHA:2003):
Cleft lip/palate-hearing loss-sacral lipoma syndrome
Lowry-Yong syndrome
Cleft lip/palate-deafness-sacral lipoma syndrome

Associated phenotypes (HPO):
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002435
hpo_term: Meningocele
chpo_term: 脑脊膜膨出
id: HP:0100337
hpo_term: Bilateral cleft palate
chpo_term: 双侧腭裂
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0005273
hpo_term: Absent nasal septal cartilage
chpo_term: 鼻中隔软骨缺如
id: HP:0008625
hpo_term: Severe sensorineural hearing impairment
chpo_term: 重度感音神经性耳聋
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0012033
hpo_term: Sacral lipoma
chpo_term: 骶脂肪瘤
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
Disease (ORPHA:2001):
Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
McPherson-Clemens syndrome

Associated phenotypes (HPO):
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0100337
hpo_term: Bilateral cleft palate
chpo_term: 双侧腭裂
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001679
hpo_term: Abnormal aortic morphology
chpo_term: 主动脉形态异常
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0010297
hpo_term: Bifid tongue
chpo_term: 舌裂
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
Disease (ORPHA:99966):
Atypical teratoid rhabdoid tumor
ATRT

Associated phenotypes (HPO):
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:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0004372
hpo_term: Reduced consciousness/confusion
chpo_term: 意识减弱/意识错乱
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0100836
hpo_term: Malignant neoplasm of the central nervous system
chpo_term: 中枢神经系统恶性肿瘤
Disease (ORPHA:99967):
Myxoid/round cell liposarcoma
MRCLS

Associated phenotypes (HPO):
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002579
hpo_term: Gastrointestinal dysmotility
chpo_term: 胃肠动力障碍
Disease (ORPHA:99969):
Pleomorphic liposarcoma
PLS

Associated phenotypes (HPO):
id: HP:0012034
hpo_term: Liposarcoma
chpo_term: 脂肪肉瘤
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
Disease (ORPHA:35078):
T-B+ severe combined immunodeficiency due to JAK3 deficiency
T-B+ SCID due to JAK3 deficiency

Associated phenotypes (HPO):
id: HP:0003347
hpo_term: Impaired lymphocyte transformation with phytohemagglutinin
chpo_term: 植物血凝素淋巴细胞转化受损
id: HP:0005354
hpo_term: Lack of T cell function
chpo_term: T细胞功能缺陷
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0031381
hpo_term: Decreased lymphocyte proliferation in response to mitogen
chpo_term: 淋巴细胞有丝分裂原应答性增殖减弱
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0005390
hpo_term: Recurrent opportunistic infections
chpo_term: 反复机会性感染
id: HP:0009098
hpo_term: Chronic oral candidiasis
chpo_term: 慢性口腔念珠菌病
id: HP:0040219
hpo_term: Absent natural killer cells
chpo_term: 自然杀伤细胞缺如
id: HP:0000371
hpo_term: Acute otitis media
chpo_term: 急性中耳炎
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0004798
hpo_term: Recurrent infection of the gastrointestinal tract
chpo_term: 胃肠道复发性感染
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0011837
hpo_term: Partial IgA deficiency
chpo_term: 部分IgA缺乏
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0000143
hpo_term: Rectovaginal fistula
chpo_term: 直肠阴道瘘
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
Disease (ORPHA:572333):
BPES plus
Blepharophimosis-ptosis-epicanthus inversus syndrome plus
3q23 microdeletion syndrome

Associated phenotypes (HPO):
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000537
hpo_term: Epicanthus inversus
chpo_term: 内眦赘皮倒转
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000539
hpo_term: Abnormality of refraction
chpo_term: 屈光异常
id: HP:0000633
hpo_term: Decreased lacrimation
chpo_term: 泪液分泌减少
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0007656
hpo_term: Lacrimal gland aplasia
chpo_term: 泪腺发育缺陷
id: HP:0011481
hpo_term: Abnormal lacrimal duct morphology
chpo_term: 泪道形态异常
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0000144
hpo_term: Decreased fertility
chpo_term: 生育能力下降
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0000815
hpo_term: Hypergonadotropic hypogonadism
chpo_term: 高促性腺激素性性腺功能减退症
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0007732
hpo_term: Lacrimal gland hypoplasia
chpo_term: 泪腺发育不全
id: HP:0007835
hpo_term: S-shaped palpebral fissures
chpo_term: S形睑裂
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0008214
hpo_term: Decreased serum estradiol
chpo_term: 血清雌二醇水平降低
id: HP:0008222
hpo_term: Female infertility
chpo_term: 女性不孕症
id: HP:0008232
hpo_term: Elevated circulating follicle stimulating hormone level
chpo_term: 血液卵泡刺激素水平升高
id: HP:0008233
hpo_term: Decreased circulating progesterone
chpo_term: 血液孕酮水平降低
id: HP:0010464
hpo_term: Streak ovary
chpo_term: 条索状卵巢
id: HP:0010748
hpo_term: Ectopic lacrimal punctum
chpo_term: 泪点异位
id: HP:0011969
hpo_term: Elevated circulating luteinizing hormone level
chpo_term: 血液黄体生成素水平升高
id: HP:0025572
hpo_term: Punctal stenosis
chpo_term: 泪小点膜性闭塞
id: HP:0032514
hpo_term: Duplicated lacrimal punctum
chpo_term: 泪点重复
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
Disease (ORPHA:2008):
Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome
ACFS
CCGE syndrome
Acrocardiofacial syndrome

Associated phenotypes (HPO):
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000836
hpo_term: Hyperthyroidism
chpo_term: 甲状腺功能亢进症
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:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001660
hpo_term: Truncus arteriosus
chpo_term: 动脉干
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001718
hpo_term: Mitral stenosis
chpo_term: 二尖瓣狭窄
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0001829
hpo_term: Foot polydactyly
chpo_term: 多趾
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100589
hpo_term: Urogenital fistula
chpo_term: 泌尿生殖道瘘
Disease (ORPHA:2007):
Alar cartilages hypoplasia-coloboma-telecanthus syndrome

Associated phenotypes (HPO):
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0003191
hpo_term: Cleft ala nasi
chpo_term: 鼻翼裂
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
Disease (ORPHA:99965):
O'Sullivan-McLeod syndrome

Associated phenotypes (HPO):
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0008954
hpo_term: Intrinsic hand muscle atrophy
chpo_term: 手部内在肌萎缩
id: HP:0030237
hpo_term: Hand muscle weakness
chpo_term: 手肌无力
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0003444
hpo_term: EMG: chronic denervation signs
chpo_term: 肌电图:慢性失神经支配的征象
id: HP:0006827
hpo_term: Atrophy of the spinal cord
chpo_term: 脊髓萎缩
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0031372
hpo_term: Cold paresis
chpo_term: 冷性轻瘫
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0040272
hpo_term: Hyperintensity of MRI T2 signal of the spinal cord
chpo_term: 脊髓MRI T2呈高信号
Disease (ORPHA:3337):
Primary Fanconi renal syndrome
Primary Fanconi renotubular syndrome
DeToni-Debré-Fanconi syndrome

Associated phenotypes (HPO):
id: HP:0000117
hpo_term: Renal phosphate wasting
chpo_term: 肾源性磷酸盐流失
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002049
hpo_term: Proximal renal tubular acidosis
chpo_term: 近端肾小管酸中毒
id: HP:0002909
hpo_term: Generalized aminoaciduria
chpo_term: 全谱氨基酸尿
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0003126
hpo_term: Low-molecular-weight proteinuria
chpo_term: 低分子量蛋白尿
id: HP:0003149
hpo_term: Hyperuricosuria
chpo_term: 高尿酸尿症
id: HP:0003646
hpo_term: Bicarbonaturia
chpo_term: 尿重碳酸氢盐增多
id: HP:0004910
hpo_term: Bicarbonate-wasting renal tubular acidosis
chpo_term: 碳酸氢盐流失性肾小管酸中毒
id: HP:0004918
hpo_term: Hyperchloremic metabolic acidosis
chpo_term: 高氯性代谢性酸中毒
id: HP:0032943
hpo_term: Abnormal urine pH
chpo_term: 尿液pH异常
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0003081
hpo_term: Increased urinary potassium
chpo_term: 尿钾增加
id: HP:0003234
hpo_term: Decreased plasma carnitine
chpo_term: 血浆肉碱降低
id: HP:0003537
hpo_term: Hypouricemia
chpo_term: 低尿酸血症
id: HP:0004912
hpo_term: Hypophosphatemic rickets
chpo_term: 低磷性佝偻病
id: HP:0012606
hpo_term: Renal sodium wasting
chpo_term: 肾源性钠流失
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
Disease (ORPHA:171680):
Lissencephaly due to TUBA1A mutation

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002198
hpo_term: Dilated fourth ventricle
chpo_term: 第四脑室扩张
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0025101
hpo_term: Dysgenesis of the hippocampus
chpo_term: 海马回发育不全
id: HP:0034051
hpo_term: Hypoplastic anterior limbs of the internal capsule
chpo_term: 内囊前肢发育不全
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001338
hpo_term: Partial agenesis of the corpus callosum
chpo_term: 局部胼胝体发育不全
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0006989
hpo_term: Dysplastic corpus callosum
chpo_term: 胼胝体发育异常
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0012650
hpo_term: Perisylvian polymicrogyria
chpo_term: 外侧裂周区多小脑回
id: HP:0025517
hpo_term: Hypoplastic hippocampus
chpo_term: 海马回发育不良
id: HP:0031882
hpo_term: Agyria
chpo_term: 无脑回畸型
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0025102
hpo_term: Dysgenesis of the basal ganglia
chpo_term: 基底节发育不良