TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:3463):
DIDMOAD syndrome
Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome
Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome
Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome
Wolfram syndrome
Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000873
hpo_term: Diabetes insipidus
chpo_term: 尿崩症
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
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:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0100016
hpo_term: Abnormality of mesentery morphology
chpo_term: 肠系膜形态异常
id: HP:0100518
hpo_term: Dysuria
chpo_term: 排尿困难
id: HP:0000026
hpo_term: Male hypogonadism
chpo_term: 男性性腺功能减退症
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
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:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002592
hpo_term: Gastric ulcer
chpo_term: 胃溃疡
id: HP:0002871
hpo_term: Central apnea
chpo_term: 中枢性呼吸暂停
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
Disease (ORPHA:3464):
Woodhouse-Sakati syndrome
Diabetes-hypogonadism-hearing loss-intellectual disability syndrome
Diabetes-hypogonadism-deafness-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
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:0000831
hpo_term: Insulin-resistant diabetes mellitus
chpo_term: 胰岛素抵抗性糖尿病
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0005135
hpo_term: Abnormal T-wave
chpo_term: T波异常
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:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0008669
hpo_term: Abnormal spermatogenesis
chpo_term: 生精异常
id: HP:0008697
hpo_term: Hypoplasia of the fallopian tube
chpo_term: 输卵管发育不良
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0010464
hpo_term: Streak ovary
chpo_term: 条索状卵巢
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000674
hpo_term: Anodontia
chpo_term: 无牙畸形
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
Disease (ORPHA:3465):
Congenital suprabulbar paresis
Worster-Drought syndrome

Associated phenotypes (HPO):
id: HP:0001291
hpo_term: Abnormal cranial nerve morphology
chpo_term: 颅神经形态异常
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0000183
hpo_term: Difficulty in tongue movements
chpo_term: 舌活动困难
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
id: HP:0033683
hpo_term: Jaw hyperreflexia
chpo_term: 下颌反射亢进
id: HP:0040262
hpo_term: Glue ear
chpo_term: 胶耳
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
Disease (ORPHA:3467):
Hereditary xanthinuria
Xanthic urolithiasis
Xanthine stone disease
Classic xanthinuria

Associated phenotypes (HPO):
id: HP:0003537
hpo_term: Hypouricemia
chpo_term: 低尿酸血症
id: HP:0011935
hpo_term: Decreased urinary urate
chpo_term: 尿液中尿酸盐减少
id: HP:0000791
hpo_term: Uric acid nephrolithiasis
chpo_term: 肾尿酸结石
id: HP:0000804
hpo_term: Xanthine nephrolithiasis
chpo_term: 肾黄嘌呤结石
id: HP:0002932
hpo_term: Aldehyde oxidase deficiency
chpo_term: 醛氧化酶缺乏症
id: HP:0003534
hpo_term: Reduced xanthine dehydrogenase level
chpo_term: 黄嘌呤脱氢酶活性降低
id: HP:0003643
hpo_term: Sulfite oxidase deficiency
chpo_term: 亚硫酸氧化酶缺乏症
id: HP:0010933
hpo_term: Hyperxanthinemia
chpo_term: 黄嘌呤代谢异常
id: HP:0010934
hpo_term: Xanthinuria
chpo_term: 黄嘌呤尿症
id: HP:0011814
hpo_term: Increased urinary hypoxanthine
chpo_term: 尿次黄嘌呤增高
id: HP:0020074
hpo_term: Crystalluria
chpo_term: 结晶尿
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001370
hpo_term: Rheumatoid arthritis
chpo_term: 类风湿关节炎
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0003040
hpo_term: Arthropathy
chpo_term: 关节病
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0012432
hpo_term: Chronic fatigue
chpo_term: 慢性疲劳
id: HP:0030157
hpo_term: Flank pain
chpo_term: 侧腹疼痛
id: HP:0001997
hpo_term: Gout
chpo_term: 痛风
Disease (ORPHA:2139):
Intellectual disability-epilepsy-bulbous nose syndrome
Hernández-Aguirre Negrete syndrome

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
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:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
Disease (ORPHA:3469):
Garcia-Lurie syndrome
XK syndrome
XK aprosencephaly syndrome
XK-aprosencephaly

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000600
hpo_term: Abnormality of the pharynx
chpo_term: 咽部异常
id: HP:0000811
hpo_term: Abnormal external genitalia
chpo_term: 外生殖器异常
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002818
hpo_term: Abnormal morphology of the radius
chpo_term: 桡骨形态异常
id: HP:0005288
hpo_term: Abnormality of the nares
chpo_term: 鼻孔异常
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
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
Disease (ORPHA:295044):
Macrodactyly of hand
Macrodactyly of fingers

Associated phenotypes (HPO):
id: HP:0100746
hpo_term: Macrodactyly of finger
chpo_term: 手指巨指畸形
id: HP:0004276
hpo_term: Exostoses of hand bones
chpo_term: 手骨外生骨疣
id: HP:0005922
hpo_term: Abnormal hand morphology
chpo_term: 手形态异常
id: HP:0100774
hpo_term: Hyperostosis
chpo_term: 骨质增生
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0010493
hpo_term: Long metacarpals
chpo_term: 长掌骨
id: HP:0012185
hpo_term: Constrictive median neuropathy
chpo_term: 压迫性正中神经病变
id: HP:0012186
hpo_term: Entrapment neuropathy of the ulnar nerve at elbow
chpo_term: 肘部尺神经压迫性神经病变
Disease (ORPHA:363686):
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000273
hpo_term: Facial grimacing
chpo_term: 面部表情痛苦
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000484
hpo_term: Hyperopic astigmatism
chpo_term: 远视散光
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000629
hpo_term: Periorbital fullness
chpo_term: 眶周丰满
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残
id: HP:0000744
hpo_term: Low frustration tolerance
chpo_term: 低挫折承受力
id: HP:0000748
hpo_term: Inappropriate laughter
chpo_term: 不适宜的发笑
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001566
hpo_term: Widely-spaced maxillary central incisors
chpo_term: 上颌中切牙牙间隙增宽
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002546
hpo_term: Incomprehensible speech
chpo_term: 难以理解的言语
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008770
hpo_term: Obsessive-compulsive trait
chpo_term: 强迫特质
id: HP:0009836
hpo_term: Broad distal phalanx of finger
chpo_term: 末节指骨变宽
id: HP:0010511
hpo_term: Long toe
chpo_term: 长脚趾
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0100033
hpo_term: Tics
chpo_term: 抽动症
Disease (ORPHA:478029):
COXPD29
Combined oxidative phosphorylation defect type 29

Associated phenotypes (HPO):
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0001138
hpo_term: Optic neuropathy
chpo_term: 视神经病变
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002180
hpo_term: Neurodegeneration
chpo_term: 神经变性
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0002370
hpo_term: Poor coordination
chpo_term: 协调能力下降
id: HP:0002416
hpo_term: Subependymal cysts
chpo_term: 室管膜下囊肿
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0002579
hpo_term: Gastrointestinal dysmotility
chpo_term: 胃肠动力障碍
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0003739
hpo_term: Myoclonic spasms
chpo_term: 肌阵挛性抽搐
id: HP:0003808
hpo_term: Abnormal muscle tone
chpo_term: 肌张力异常
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0011923
hpo_term: Decreased activity of mitochondrial complex I
chpo_term: 线粒体复合物I活性降低
id: HP:0011924
hpo_term: Decreased activity of mitochondrial complex III
chpo_term: 线粒体复合物III活性降低
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:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0030884
hpo_term: Gastrojejunal tube feeding in infancy
chpo_term: 婴儿胃空肠管饲
id: HP:0040078
hpo_term: Axonal degeneration
chpo_term: 轴索变性
id: HP:0100275
hpo_term: Diffuse cerebellar atrophy
chpo_term: 弥漫性小脑萎缩
Disease (ORPHA:3459):
X-linked intellectual disability-gynecomastia-obesity syndrome
Wilson-Turner syndrome
WTS

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
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:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0010620
hpo_term: Malar prominence
chpo_term: 颧骨突出
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
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:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0009909
hpo_term: Uplifted earlobe
chpo_term: 耳垂方向异常
Disease (ORPHA:2126):
SFT
Solitary fibrous tumor

Associated phenotypes (HPO):
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0010787
hpo_term: Genital neoplasm
chpo_term: 生殖器肿瘤
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0031459
hpo_term: Soft tissue neoplasm
chpo_term: 软组织肿瘤
id: HP:0100527
hpo_term: Neoplasia of the pleura
chpo_term: 胸膜肿瘤
id: HP:0000016
hpo_term: Urinary retention
chpo_term: 尿潴留
id: HP:0000290
hpo_term: Abnormality of the forehead
chpo_term: 前额异常
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001988
hpo_term: Recurrent hypoglycemia
chpo_term: 反复发作性低血糖
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002585
hpo_term: Abnormality of the peritoneum
chpo_term: 腹膜异常
id: HP:0002896
hpo_term: Neoplasm of the liver
chpo_term: 肝脏肿瘤
id: HP:0003419
hpo_term: Low back pain
chpo_term: 下背部疼痛
id: HP:0004375
hpo_term: Neoplasm of the nervous system
chpo_term: 神经系统的肿瘤
id: HP:0004912
hpo_term: Hypophosphatemic rickets
chpo_term: 低磷性佝偻病
id: HP:0007185
hpo_term: Loss of consciousness
chpo_term: 意识丧失
id: HP:0008775
hpo_term: Abnormal prostate morphology
chpo_term: 前列腺形态异常
id: HP:0010784
hpo_term: Uterine neoplasm
chpo_term: 子宫肿瘤
id: HP:0012125
hpo_term: Prostate cancer
chpo_term: 前列腺癌
id: HP:0030166
hpo_term: Night sweats
chpo_term: 盗汗
id: HP:0030795
hpo_term: Reduced C-peptide level
chpo_term: C-肽水平降低
id: HP:0031501
hpo_term: Pelvic mass
chpo_term: 盆腔肿块
id: HP:0040216
hpo_term: Hypoinsulinemia
chpo_term: 低胰岛素血症
id: HP:0045026
hpo_term: Abnormality of the mediastinum
chpo_term: 纵膈异常
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
id: HP:0100650
hpo_term: Vaginal neoplasm
chpo_term: 阴道肿瘤
Disease (ORPHA:295036):
Congenital patella dislocation

Associated phenotypes (HPO):
id: HP:0002999
hpo_term: Patellar dislocation
chpo_term: 髌骨脱位
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0003066
hpo_term: Limited knee extension
chpo_term: 伸膝受限
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0009787
hpo_term: Aplasia/Hypoplasia of the quadriceps
chpo_term: 股四头肌发育不良/发育不全
Disease (ORPHA:2123):
Diffuse neonatal hemangiomatosis
Multifocal infantile hemangioma with extracutenous involvement

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000142
hpo_term: Abnormal vagina morphology
chpo_term: 阴道形态异常
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0007461
hpo_term: Hemangiomatosis
chpo_term: 多发性血管瘤
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100761
hpo_term: Visceral angiomatosis
chpo_term: 内脏血管瘤病
Disease (ORPHA:2122):
Kaposiform hemangioendothelioma

Associated phenotypes (HPO):
id: HP:0005520
hpo_term: Chronic disseminated intravascular coagulation
chpo_term: 慢性弥漫性血管内凝血
id: HP:0011900
hpo_term: Hypofibrinogenemia
chpo_term: 低纤维蛋白原血症
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0030350
hpo_term: Erythematous papule
chpo_term: 红色丘疹
id: HP:0033106
hpo_term: Elevated circulating D-dimer concentration
chpo_term: 循环 D-二聚体浓度增高
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001937
hpo_term: Microangiopathic hemolytic anemia
chpo_term: 微血管病性溶血性贫血
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
Disease (ORPHA:3452):
Whipple disease
Intestinal lipodystrophy

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
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:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002102
hpo_term: Pleuritis
chpo_term: 胸膜炎
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007440
hpo_term: Generalized hyperpigmentation
chpo_term: 泛发性色素沉着
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
id: HP:0100614
hpo_term: Myositis
chpo_term: 肌炎
id: HP:0100639
hpo_term: Erectile dysfunction
chpo_term: 勃起功能障碍
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0100829
hpo_term: Galactorrhea
chpo_term: 溢乳