TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:66627):
Diffuse-type giant cell tumor
Tenosynovial giant cell tumor
TSGCT
Pigmented villonodular synovitis
Diffuse-type GCT
TGCT

Associated phenotypes (HPO):
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0002815
hpo_term: Abnormality of the knee
chpo_term: 膝关节异常
id: HP:0005261
hpo_term: Joint hemorrhage
chpo_term: 关节出血
id: HP:0000372
hpo_term: Abnormality of the auditory canal
chpo_term: 耳道异常
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0001003
hpo_term: Multiple lentigines
chpo_term: 多发性雀斑样痣
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001384
hpo_term: Abnormal hip joint morphology
chpo_term: 髋关节形态异常
id: HP:0003019
hpo_term: Abnormality of the wrist
chpo_term: 手腕异常
id: HP:0003028
hpo_term: Abnormality of the ankles
chpo_term: 脚踝异常
id: HP:0003043
hpo_term: Abnormal shoulder morphology
chpo_term: 肩部形态异常
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
id: HP:0009911
hpo_term: Abnormal temporal bone morphology
chpo_term: 颞骨形态异常
id: HP:0031520
hpo_term: Groin pain
chpo_term: 腹股沟痛
id: HP:0040090
hpo_term: Abnormality of the tympanic membrane
chpo_term: 鼓膜异常
id: HP:0000934
hpo_term: Chondrocalcinosis
chpo_term: 软骨钙质沉着症
id: HP:0005186
hpo_term: Synovial hypertrophy
chpo_term: 滑膜肥厚
id: HP:0005195
hpo_term: Polyarticular arthropathy
chpo_term: 多关节病
id: HP:0040161
hpo_term: Localized osteoporosis
chpo_term: 局部骨质疏松
Disease (ORPHA:1915):
FAS
Alcohol-related neurodevelopmental disorder
Alcohol-related birth defects
ARBD
Fetal alcohol syndrome
FASD
Fetal alcohol spectrum disorders
ARND

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
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:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004422
hpo_term: Biparietal narrowing
chpo_term: 双侧顶骨部收窄
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0010978
hpo_term: Abnormality of immune system physiology
chpo_term: 免疫系统功能异常
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100761
hpo_term: Visceral angiomatosis
chpo_term: 内脏血管瘤病
Disease (ORPHA:659):
Palmoplantar and periorificial keratoderma
Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Olmsted syndrome

Associated phenotypes (HPO):
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0002861
hpo_term: Melanoma
chpo_term: 黑色素瘤
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0011830
hpo_term: Abnormal oral mucosa morphology
chpo_term: 口腔黏膜形态异常
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
id: HP:0000970
hpo_term: Anhidrosis
chpo_term: 无汗症
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0007410
hpo_term: Palmoplantar hyperhidrosis
chpo_term: 掌跖多汗症
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0031013
hpo_term: Ankylosis
chpo_term: 关节僵硬
id: HP:0031057
hpo_term: Skin fissure
chpo_term: 皮肤裂痕
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0000157
hpo_term: Abnormality of the tongue
chpo_term: 舌异常
id: HP:0000168
hpo_term: Abnormality of the gingiva
chpo_term: 牙龈异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
Disease (ORPHA:206448):
Adult Krabbe disease

Associated phenotypes (HPO):
id: HP:0002493
hpo_term: Upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍/功能异常
id: HP:0034322
hpo_term: Reduced galactocerebrosidase activity
chpo_term: 半乳糖脑苷酯酶活性降低
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0002418
hpo_term: Abnormal midbrain morphology
chpo_term: 中脑形态异常
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0006801
hpo_term: Hyperactive deep tendon reflexes
chpo_term: 腱反射亢进
id: HP:0007199
hpo_term: Progressive spastic paraparesis
chpo_term: 进行性痉挛性轻瘫
id: HP:0007305
hpo_term: CNS demyelination
chpo_term: 中枢神经系统脱髓鞘
id: HP:0007361
hpo_term: Abnormal pons morphology
chpo_term: 桥脑形态异常
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0031993
hpo_term: Hoffmann sign
chpo_term: Hoffmann征
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002062
hpo_term: Morphological abnormality of the pyramidal tract
chpo_term: 锥体束的形态异常
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0004466
hpo_term: Prolonged brainstem auditory evoked potentials
chpo_term: 脑干听觉诱发电位延长
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010830
hpo_term: Impaired tactile sensation
chpo_term: 触觉障碍
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0011441
hpo_term: Abnormal medulla oblongata morphology
chpo_term: 延髓形态异常
id: HP:0031006
hpo_term: Acroparesthesia
chpo_term: 肢端感觉障碍
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
id: HP:0002371
hpo_term: Loss of speech
chpo_term: 言语不能
id: HP:0002492
hpo_term: Morphological abnormality of the corticospinal tract
chpo_term: 皮质脊髓束形态异常
id: HP:0100639
hpo_term: Erectile dysfunction
chpo_term: 勃起功能障碍
Disease (ORPHA:1914):
Vitamin K antagonist embryofetopathy
Vitamin K antagonist embryopathy
Warfarin embryopathy
Warfarin embryofetopathy
di Sala syndrome

Associated phenotypes (HPO):
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008420
hpo_term: Punctate vertebral calcifications
chpo_term: 椎体点状钙化
id: HP:0010655
hpo_term: Epiphyseal stippling
chpo_term: 骨骺点状钙化
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
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:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0008056
hpo_term: Aplasia/Hypoplasia affecting the eye
chpo_term: 眼睛发育缺陷/不全
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:66629):
Goldberg-Shprintzen megacolon syndrome
Megacolon-microcephaly syndrome
GOSHS

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
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:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
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:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
Disease (ORPHA:100050):
Hereditary angioedema type 1
Hereditary angioneurotic edema type 1
HAE 1
HAE-I

Associated phenotypes (HPO):
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0005225
hpo_term: Intestinal edema
chpo_term: 肠道水肿
id: HP:0007514
hpo_term: Edema of the dorsum of hands
chpo_term: 手背水肿
id: HP:0011971
hpo_term: Dermatographic urticaria
chpo_term: 皮肤划痕症
id: HP:0012027
hpo_term: Laryngeal edema
chpo_term: 喉头水肿
id: HP:0012252
hpo_term: Abnormal respiratory system morphology
chpo_term: 呼吸系统形态学异常
id: HP:0025349
hpo_term: Limbal edema
chpo_term: 角膜缘水肿
id: HP:0040315
hpo_term: Tongue edema
chpo_term: 舌头水肿
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0100755
hpo_term: Abnormality of salivation
chpo_term: 流涎异常
id: HP:0000172
hpo_term: Abnormal uvula morphology
chpo_term: 悬雍垂形态异常
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0005348
hpo_term: Inspiratory stridor
chpo_term: 吸气性喘鸣
id: HP:0005483
hpo_term: Abnormal epiglottis morphology
chpo_term: 会厌形态异常
id: HP:0011855
hpo_term: Pharyngeal edema
chpo_term: 咽部水肿
id: HP:0100736
hpo_term: Abnormal soft palate morphology
chpo_term: 软腭形态异常
Disease (ORPHA:1913):
Fetal trimethadione syndrome

Associated phenotypes (HPO):
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
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:0001669
hpo_term: Transposition of the great arteries
chpo_term: 大动脉转位
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0011039
hpo_term: Abnormal helix morphology
chpo_term: 耳轮形态异常
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
Disease (ORPHA:1912):
Phenytoin embryofetopathy
Fetal hydantoin syndrome
Fetal dihydantoin syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000235
hpo_term: Abnormality of the fontanelles or cranial sutures
chpo_term: 囟门或颅缝异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0000364
hpo_term: Hearing abnormality
chpo_term: 听力异常
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0001804
hpo_term: Hypoplastic fingernail
chpo_term: 指甲发育不良
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
Disease (ORPHA:1911):
Cocaine embryofetopathy
Fetal cocaine syndrome

Associated phenotypes (HPO):
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0011100
hpo_term: Intestinal atresia
chpo_term: 肠闭锁
id: HP:0100657
hpo_term: Thoracoabdominal eventration
chpo_term: 胸腹脏器膨出
Disease (ORPHA:655):
Nephronophthisis

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
Disease (ORPHA:654):
Nephroblastoma
Wilms tumor
Renal embryonic tumor

Associated phenotypes (HPO):
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
id: HP:0031500
hpo_term: Abdominal mass
chpo_term: 腹部肿块
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0005580
hpo_term: Duplication of renal pelvis
chpo_term: 双肾盂
id: HP:0012587
hpo_term: Macroscopic hematuria
chpo_term: 肉眼血尿
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0000526
hpo_term: Aniridia
chpo_term: 无虹膜
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001528
hpo_term: Hemihypertrophy
chpo_term: 偏身肥大
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001901
hpo_term: Polycythemia
chpo_term: 红细胞增多症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002896
hpo_term: Neoplasm of the liver
chpo_term: 肝脏肿瘤
id: HP:0002907
hpo_term: Microscopic hematuria
chpo_term: 镜下血尿症
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0008330
hpo_term: Reduced von Willebrand factor activity
chpo_term: 血管性血友病因子活性减低
id: HP:0012871
hpo_term: Varicocele
chpo_term: 精索静脉曲张
id: HP:0031105
hpo_term: Abnormal uterus morphology
chpo_term: 子宫形态异常
id: HP:0033834
hpo_term: Malaise
chpo_term: 全身乏力不适
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
Disease (ORPHA:1910):
Fetal iodine syndrome

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
Disease (ORPHA:656):
Familial idiopathic steroid-resistant nephrotic syndrome
Hereditary SRNS
Monogenic SRNS
Genetic SRNS
Isolated SRNS
Hereditary steroid-resistant nephrotic syndrome
Genetic FSGS

Associated phenotypes (HPO):
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000097
hpo_term: Focal segmental glomerulosclerosis
chpo_term: 局灶节段性肾小球硬化
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0100539
hpo_term: Periorbital edema
chpo_term: 眶周水肿
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001967
hpo_term: Diffuse mesangial sclerosis
chpo_term: 弥漫性肾小球系膜硬化
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0011947
hpo_term: Respiratory tract infection
chpo_term: 呼吸道感染
id: HP:0012579
hpo_term: Minimal change glomerulonephritis
chpo_term: 微小病变性肾小球肾炎
id: HP:0031504
hpo_term: Foamy urine
chpo_term: 泡沫尿
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
Disease (ORPHA:324703):
HCHWA, Piedmont type
ABetaL34V amyloidosis
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
ABetaL34V-related amyloidosis
ABeta amyloidosis, Piedmont type

Associated phenotypes (HPO):
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0100659
hpo_term: Abnormal cerebral vascular morphology
chpo_term: 脑血管形态异常
Disease (ORPHA:324708):
HCHWA, Iowa type
ABetaD23N amyloidosis
ABeta amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type

Associated phenotypes (HPO):
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0100659
hpo_term: Abnormal cerebral vascular morphology
chpo_term: 脑血管形态异常