TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:313781):
Monosomy 20p13
20p subtelomeric deletion syndrome
20p13 microdeletion syndrome
Del(20)(p13)

Associated phenotypes (HPO):
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0008589
hpo_term: Hypoplastic helices
chpo_term: 耳轮发育不全
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
Disease (ORPHA:141):
Spongy degeneration of the brain
Canavan disease
Aspartoacylase deficiency
ACY2 deficiency
Aminoacylase 2 deficiency

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0004372
hpo_term: Reduced consciousness/confusion
chpo_term: 意识减弱/意识错乱
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:33402):
Pediatric HCC
Childhood-onset hepatocellular carcinoma
Pediatric hepatocellular carcinoma
Childhood-onset HCC

Associated phenotypes (HPO):
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0006254
hpo_term: Elevated alpha-fetoprotein
chpo_term: α-甲胎蛋白升高
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002605
hpo_term: Hepatic necrosis
chpo_term: 肝坏死
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0030242
hpo_term: Portal vein thrombosis
chpo_term: 门静脉血栓形成
id: HP:0410019
hpo_term: Epigastric pain
chpo_term: 上腹部疼痛
Disease (ORPHA:140):
Campomelic dwarfism
Campomelic dysplasia

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000878
hpo_term: 11 pairs of ribs
chpo_term: 11对肋骨
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002779
hpo_term: Tracheomalacia
chpo_term: 气管软化
id: HP:0002786
hpo_term: Tracheobronchomalacia
chpo_term: 气管支气管软化
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0006584
hpo_term: Small abnormally formed scapulae
chpo_term: 小的异常形成的肩胛骨
id: HP:0008477
hpo_term: Poorly ossified cervical vertebrae
chpo_term: 颈椎骨化不良
id: HP:0008821
hpo_term: Hypoplastic inferior ilia
chpo_term: 髂骨发育不良
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0000037
hpo_term: Male pseudohermaphroditism
chpo_term: 男性假两性畸形
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0010781
hpo_term: Skin dimple
chpo_term: 皮肤酒窝征
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0004408
hpo_term: Abnormality of the sense of smell
chpo_term: 嗅觉异常
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0007036
hpo_term: Hypoplasia of olfactory tract
chpo_term: 嗅束发育不良
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:143):
Parathyroid carcinoma

Associated phenotypes (HPO):
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0006780
hpo_term: Parathyroid carcinoma
chpo_term: 甲状旁腺癌
id: HP:0008200
hpo_term: Primary hyperparathyroidism
chpo_term: 原发性甲状旁腺功能亢进症
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0003165
hpo_term: Elevated circulating parathyroid hormone level
chpo_term: 血甲状旁腺激素水平升高
id: HP:0011766
hpo_term: Abnormality of the parathyroid morphology
chpo_term: 甲状旁腺形态异常
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000131
hpo_term: Uterine leiomyoma
chpo_term: 子宫肌瘤
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0010614
hpo_term: Fibroma
chpo_term: 纤维瘤
id: HP:0012232
hpo_term: Shortened QT interval
chpo_term: QT间期缩短
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000934
hpo_term: Chondrocalcinosis
chpo_term: 软骨钙质沉着症
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0004398
hpo_term: Peptic ulcer
chpo_term: 消化性溃疡
id: HP:0008696
hpo_term: Renal hamartoma
chpo_term: 肾错构瘤
id: HP:0200025
hpo_term: Mandibular pain
chpo_term: 下颌疼痛
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
id: HP:0002890
hpo_term: Thyroid carcinoma
chpo_term: 甲状腺癌
id: HP:0006725
hpo_term: Pancreatic adenocarcinoma
chpo_term: 胰腺腺癌
id: HP:0010788
hpo_term: Testicular neoplasm
chpo_term: 睾丸肿瘤
id: HP:0012032
hpo_term: Lipoma
chpo_term: 脂肪瘤
Disease (ORPHA:142):
Anaplastic thyroid carcinoma

Associated phenotypes (HPO):
id: HP:0011779
hpo_term: Anaplastic thyroid carcinoma
chpo_term: 甲状腺未分化癌
id: HP:0000475
hpo_term: Broad neck
chpo_term: 宽颈
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0005994
hpo_term: Nodular goiter
chpo_term: 结节性甲状腺肿
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002781
hpo_term: Upper airway obstruction
chpo_term: 上气道阻塞
id: HP:0004894
hpo_term: Laryngotracheal stenosis
chpo_term: 喉气管狭窄
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0010622
hpo_term: Neoplasm of the skeletal system
chpo_term: 骨骼系统肿瘤
id: HP:0011805
hpo_term: Abnormal skeletal muscle morphology
chpo_term: 骨骼肌形态异常
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
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:293603):
CHEDII
Congenital hereditary endothelial dystrophy type 2
Infantile hereditary endothelial dystrophy
CHED2
Congenital hereditary endothelial dystrophy type II
Autosomal recessive CHED
Maumenee corneal dystrophy
Autosomal recessive congenital hereditary endothelial dystrophy

Associated phenotypes (HPO):
id: HP:0031792
hpo_term: Irregular astigmatism
chpo_term: 不规则散光
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011487
hpo_term: Increased corneal thickness
chpo_term: 角膜厚度增加
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:0012040
hpo_term: Corneal stromal edema
chpo_term: 角膜基质水肿
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
Disease (ORPHA:139480):
Spastic paraplegia due to NTE mutation
SPG39
Autosomal recessive spastic paraplegia type 39
Spastic paraplegia due to neuropathy target esterase mutation

Associated phenotypes (HPO):
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0006827
hpo_term: Atrophy of the spinal cord
chpo_term: 脊髓萎缩
id: HP:0007002
hpo_term: Motor axonal neuropathy
chpo_term: 运动轴索性神经病
id: HP:0009055
hpo_term: Generalized limb muscle atrophy
chpo_term: 广泛性四肢肌肉萎缩
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
Disease (ORPHA:139485):
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive cerebellar ataxia type 2
SCAR9
Autosomal recessive spinocerebellar ataxia type 9
Autosomal recessive ataxia due to coenzyme Q10 deficiency
ARCA2

Associated phenotypes (HPO):
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0004696
hpo_term: Talipes cavus equinovarus
chpo_term: 马蹄内翻足高弓畸形
id: HP:0012752
hpo_term: Focal T2 hypointense basal ganglia lesion
chpo_term: 基底节局灶性T2低信号病变
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
Disease (ORPHA:93945):
X-linked intellectual disability, Porteous type

Associated phenotypes (HPO):
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002292
hpo_term: Frontal balding
chpo_term: 前额秃发
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
Disease (ORPHA:168829):
PPC
Serous surface papillary carcinoma
Primary peritoneal serous carcinoma
EOPPC
Extra-ovarian primary peritoneal carcinoma
Primary peritoneal carcinoma

Associated phenotypes (HPO):
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
Disease (ORPHA:93946):
Hamel cerebro-palato-cardiac syndrome

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
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:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
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:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
Disease (ORPHA:93947):
X-linked intellectual disability, Golabi-Ito-Hall type

Associated phenotypes (HPO):
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
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:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
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:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0011359
hpo_term: Dry hair
chpo_term: 干性毛发
Disease (ORPHA:54370):
Mesangiocapillary glomerulonephritis
Primary membranoproliferative glomerulonephritis
Primary MPGN

Associated phenotypes (HPO):
id: HP:0000793
hpo_term: Membranoproliferative glomerulonephritis
chpo_term: 膜增生性肾小球肾炎
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0002907
hpo_term: Microscopic hematuria
chpo_term: 镜下血尿症
id: HP:0004746
hpo_term: Glomerular subendothelial electron-dense deposits
chpo_term: 肾小球内皮下电子致密沉积物
id: HP:0005421
hpo_term: Decreased serum complement C3
chpo_term: 血清补体C3减少
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0030888
hpo_term: C3 nephritic factor positivity
chpo_term: C3肾炎因子阳性
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001977
hpo_term: Abnormal thrombosis
chpo_term: 异常血栓形成
id: HP:0011510
hpo_term: Drusen
chpo_term: 玻璃膜疣
Disease (ORPHA:93941):
LTEC4
Laryngo-tracheo-esophageal cleft type 4
LTEC IV
Laryngotracheoesophageal cleft type 4

Associated phenotypes (HPO):
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0001743
hpo_term: Abnormality of the spleen
chpo_term: 脾脏异常
id: HP:0002366
hpo_term: Abnormal lower motor neuron morphology
chpo_term: 下运动神经元形态异常
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0002777
hpo_term: Tracheal stenosis
chpo_term: 气管狭窄
id: HP:0011100
hpo_term: Intestinal atresia
chpo_term: 肠闭锁
id: HP:0100016
hpo_term: Abnormality of mesentery morphology
chpo_term: 肠系膜形态异常
Disease (ORPHA:139):
CHILD syndrome
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
CHILD nevus

Associated phenotypes (HPO):
id: HP:0012165
hpo_term: Oligodactyly
chpo_term: 少指（趾）畸形
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0010655
hpo_term: Epiphyseal stippling
chpo_term: 骨骺点状钙化
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0007431
hpo_term: Congenital ichthyosiform erythroderma
chpo_term: 先天性鱼鳞病样红皮病
id: HP:0008394
hpo_term: Congenital onychodystrophy
chpo_term: 先天性甲营养不良
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0031517
hpo_term: Verruciform xanthoma
chpo_term: 疣状黄瘤
id: HP:0045060
hpo_term: Aplasia/hypoplasia involving bones of the extremities
chpo_term: 四肢骨发育不良/发育不全
id: HP:0100803
hpo_term: Abnormality of the periungual region
chpo_term: 甲周异常
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002011
hpo_term: Morphological central nervous system abnormality
chpo_term: 中枢神经系统的形态异常
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0003651
hpo_term: Foam cells
chpo_term: 泡沫细胞
id: HP:0004552
hpo_term: Scarring alopecia of scalp
chpo_term: 头皮瘢痕性脱发
id: HP:0009827
hpo_term: Amelia
chpo_term: 缺肢
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
Disease (ORPHA:177):
RCDP
Rhizomelic chondrodysplasia punctata

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
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:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
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:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0010655
hpo_term: Epiphyseal stippling
chpo_term: 骨骺点状钙化
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
Disease (ORPHA:179):
Vitiliginous choroiditis
Birdshot retinochoroiditis
Birdshot chorioretinopathy
Birdshot retinochoroidopathy
Birdshot chorioretinitis

Associated phenotypes (HPO):
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0011508
hpo_term: Macular hole
chpo_term: 黄斑裂孔
id: HP:0030329
hpo_term: Retinal thinning
chpo_term: 视网膜变薄
id: HP:0030644
hpo_term: Blind-spot enlargment
chpo_term: 盲点扩大
id: HP:0100014
hpo_term: Epiretinal membrane
chpo_term: 视网膜前膜
id: HP:0100533
hpo_term: Inflammatory abnormality of the eye
chpo_term: 眼睛的炎性异常
id: HP:0100832
hpo_term: Vitreous floaters
chpo_term: 玻璃体漂浮物
id: HP:0200056
hpo_term: Macular scar
chpo_term: 黄斑瘢痕
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0011506
hpo_term: Choroidal neovascularization
chpo_term: 脉络膜新生血管
id: HP:0030530
hpo_term: Arcuate scotoma
chpo_term: 弧形暗点
id: HP:0000532
hpo_term: Abnormal chorioretinal morphology
chpo_term: 脉络膜视网膜形态异常
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000610
hpo_term: Abnormal choroid morphology
chpo_term: 脉络膜形态异常
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0008046
hpo_term: Abnormal retinal vascular morphology
chpo_term: 视网膜脉管形态异常
id: HP:0011505
hpo_term: Cystoid macular edema
chpo_term: 囊样黄斑水肿
id: HP:0011531
hpo_term: Vitritis
chpo_term: 玻璃体炎
id: HP:0030609
hpo_term: Photoreceptor layer loss on macular OCT
chpo_term: OCT 测量法黄斑区光感受器细胞层损失
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊