TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:2143):
Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
DBS/FOAR syndrome
Holmes-Schepens syndrome
FOAR syndrome
Syndrome of ocular and facial anomalies, telecanthus and deafness
Syndrome of ocular and facial anomalies, telecanthus and hearing loss
Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome
Donnai-Barrow syndrome
Facio-oculo-acoustico-renal syndrome
Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Associated phenotypes (HPO):
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000130
hpo_term: Abnormality of the uterus
chpo_term: 子宫异常
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000349
hpo_term: Widow's peak
chpo_term: 美人尖
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000813
hpo_term: Bicornuate uterus
chpo_term: 双角子宫
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
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:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
Disease (ORPHA:3473):
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
Zimmermann-Laband syndrome

Associated phenotypes (HPO):
id: HP:0000169
hpo_term: Gingival fibromatosis
chpo_term: 牙龈纤维瘤病
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001804
hpo_term: Hypoplastic fingernail
chpo_term: 指甲发育不良
id: HP:0001817
hpo_term: Absent fingernail
chpo_term: 指甲缺损
id: HP:0002265
hpo_term: Large fleshy ears
chpo_term: 肥大耳
id: HP:0004554
hpo_term: Generalized hypertrichosis
chpo_term: 泛发性多毛症
id: HP:0009102
hpo_term: Anterior open-bite malocclusion
chpo_term: 前牙开咬错位咬合畸形
id: HP:0009894
hpo_term: Thickened ears
chpo_term: 肥厚耳
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
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: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:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000811
hpo_term: Abnormal external genitalia
chpo_term: 外生殖器异常
id: HP:0000977
hpo_term: Soft skin
chpo_term: 皮肤柔软
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
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:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0002219
hpo_term: Facial hypertrichosis
chpo_term: 面部多毛症（先天性）
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0011069
hpo_term: Supernumerary tooth
chpo_term: 多生牙
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001869
hpo_term: Deep plantar creases
chpo_term: 跖部深褶
id: HP:0006191
hpo_term: Deep palmar crease
chpo_term: 掌褶纹深
id: HP:0006391
hpo_term: Overtubulated long bones
chpo_term: 纤细长骨
id: HP:0007440
hpo_term: Generalized hyperpigmentation
chpo_term: 泛发性色素沉着
Disease (ORPHA:464288):
Short stature-brachydactyly-obesity-global developmental delay syndrome
SBIDDS

Associated phenotypes (HPO):
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0004689
hpo_term: Short fourth metatarsal
chpo_term: 第四跖骨短
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0012443
hpo_term: Abnormality of brain morphology
chpo_term: 脑形态学异常
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
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:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000620
hpo_term: Dacryocystitis
chpo_term: 泪囊炎
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0000852
hpo_term: Pseudohypoparathyroidism
chpo_term: 假性甲状旁腺功能减退症
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0003065
hpo_term: Patellar hypoplasia
chpo_term: 髌骨发育不全
id: HP:0007074
hpo_term: Thick corpus callosum
chpo_term: 胼胝体增厚
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0031938
hpo_term: Abnormal conus terminalis morphology
chpo_term: 圆锥体末端形态异常
Disease (ORPHA:238769):
1q44 microdeletion syndrome
Del(1)(q44)
Monosomy 1q44

Associated phenotypes (HPO):
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
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:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
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:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002263
hpo_term: Exaggerated cupid's bow
chpo_term: 夸张的丘比特唇弓
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
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:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0007766
hpo_term: Optic disc hypoplasia
chpo_term: 视盘发育不良
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (ORPHA:284388):
Reversible cerebral vasoconstriction syndrome
RCVS

Associated phenotypes (HPO):
id: HP:0025637
hpo_term: Vasospasm
chpo_term: 血管痉挛
id: HP:0030907
hpo_term: Thunderclap headache
chpo_term: 霹雳性头痛
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002331
hpo_term: Recurrent paroxysmal headache
chpo_term: 反复发作性头痛
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002138
hpo_term: Subarachnoid hemorrhage
chpo_term: 蛛网膜下腔出血
id: HP:0002140
hpo_term: Ischemic stroke
chpo_term: 缺血性脑卒中
id: HP:0002183
hpo_term: Phonophobia
chpo_term: 声音恐惧
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0004944
hpo_term: Dilatation of the cerebral artery
chpo_term: 脑动脉扩张
id: HP:0009145
hpo_term: Abnormal cerebral artery morphology
chpo_term: 脑动脉形态异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002181
hpo_term: Cerebral edema
chpo_term: 脑水肿
id: HP:0012158
hpo_term: Carotid artery dissection
chpo_term: 颈动脉夹层
id: HP:0030746
hpo_term: Intraventricular hemorrhage
chpo_term: 脑室内出血
id: HP:0100309
hpo_term: Subdural hemorrhage
chpo_term: 硬膜下出血
Disease (ORPHA:230800):
Toxin-mediated infective botulism
Toxin-mediated infectious botulism

Associated phenotypes (HPO):
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
id: HP:0006597
hpo_term: Diaphragmatic paralysis
chpo_term: 膈肌麻痹
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0011499
hpo_term: Mydriasis
chpo_term: 瞳孔散大
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
Disease (ORPHA:221091):
Trigeminal neuralgia

Associated phenotypes (HPO):
id: HP:0100661
hpo_term: Trigeminal neuralgia
chpo_term: 三叉神经痛
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0012199
hpo_term: Cluster headache
chpo_term: 丛集性头痛
id: HP:0012533
hpo_term: Allodynia
chpo_term: 痛觉过敏
id: HP:0000183
hpo_term: Difficulty in tongue movements
chpo_term: 舌活动困难
id: HP:0000740
hpo_term: Episodic paroxysmal anxiety
chpo_term: 情景性阵发性焦虑
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
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:0004948
hpo_term: Vascular tortuosity
chpo_term: 血管迂曲
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0200025
hpo_term: Mandibular pain
chpo_term: 下颌疼痛
id: HP:0001293
hpo_term: Cranial nerve compression
chpo_term: 颅神经受压
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0007305
hpo_term: CNS demyelination
chpo_term: 中枢神经系统脱髓鞘
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
Disease (ORPHA:2138):
46,XX ovotesticular disorder of sex development
46,XX ovotesticular difference of sex development
46,XX ovotesticular DSD

Associated phenotypes (HPO):
id: HP:0000008
hpo_term: Abnormal morphology of female internal genitalia
chpo_term: 女性内生殖器形态异常
id: HP:0000022
hpo_term: Abnormal male internal genitalia morphology
chpo_term: 男性内生殖器形态异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
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:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000130
hpo_term: Abnormality of the uterus
chpo_term: 子宫异常
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:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0010459
hpo_term: True hermaphroditism
chpo_term: 真两性畸形
id: HP:0012856
hpo_term: Abnormal scrotal rugation
chpo_term: 阴囊褶皱异常
id: HP:0100779
hpo_term: Urogenital sinus anomaly
chpo_term: 泌尿生殖窦异常
Disease (ORPHA:2137):
AIH
Autoimmune hepatitis

Associated phenotypes (HPO):
id: HP:0003237
hpo_term: Increased circulating IgG level
chpo_term: 循环IgG水平升高
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003262
hpo_term: Smooth muscle antibody positivity
chpo_term: 平滑肌抗体阳性
id: HP:0003453
hpo_term: Antineutrophil antibody positivity
chpo_term: 抗中性粒细胞抗体阳性
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0030908
hpo_term: Liver kidney microsome type 1 antibody positivity
chpo_term: 肝肾微粒体1型抗体阳性
id: HP:0030909
hpo_term: Anti-liver cytosolic antigen type 1 antibody positivity
chpo_term: 抗肝细胞胞浆抗原1型抗体阳性
id: HP:0031925
hpo_term: Rosette
chpo_term: Rosettes菊形团
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0012432
hpo_term: Chronic fatigue
chpo_term: 慢性疲劳
id: HP:0012522
hpo_term: Spider hemangioma
chpo_term: 蜘蛛痣
id: HP:0032469
hpo_term: Anti-asialoglycoprotein receptor antibody positivity
chpo_term: 抗脱唾液酸糖蛋白受体抗体阳性
id: HP:0000099
hpo_term: Glomerulonephritis
chpo_term: 肾小球肾炎
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0003573
hpo_term: Increased total bilirubin
chpo_term: 总胆红素增加
id: HP:0006555
hpo_term: Diffuse hepatic steatosis
chpo_term: 弥漫性肝脂肪变性
id: HP:0030991
hpo_term: Sclerosing cholangitis
chpo_term: 硬化性胆管炎
id: HP:0100279
hpo_term: Ulcerative colitis
chpo_term: 溃疡性结肠炎
id: HP:0100646
hpo_term: Thyroiditis
chpo_term: 甲状腺炎
id: HP:0200119
hpo_term: Acute hepatitis
chpo_term: 急性肝炎
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
id: HP:0004787
hpo_term: Fulminant hepatitis
chpo_term: 暴发性肝炎
id: HP:0006562
hpo_term: Viral hepatitis
chpo_term: 病毒性肝炎
Disease (ORPHA:295047):
Macrodactyly of foot
Macrodactyly of toes

Associated phenotypes (HPO):
id: HP:0100747
hpo_term: Macrodactyly of toe
chpo_term: 巨趾畸形
id: HP:0010165
hpo_term: Enlarged epiphyses of the toes
chpo_term: 趾骨骨骺膨大
id: HP:0001783
hpo_term: Broad metatarsal
chpo_term: 跖骨变宽
id: HP:0008082
hpo_term: Medial deviation of the foot
chpo_term: 脚内侧偏斜
id: HP:0008108
hpo_term: Advanced tarsal ossification
chpo_term: 跗骨骨化过早
id: HP:0008371
hpo_term: Abnormal metatarsal ossification
chpo_term: 跖骨骨化异常
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0005830
hpo_term: Flexion contracture of toe
chpo_term: 脚趾屈曲挛缩
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
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:0001829
hpo_term: Foot polydactyly
chpo_term: 多趾
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0012032
hpo_term: Lipoma
chpo_term: 脂肪瘤
Disease (ORPHA:2134):
Atypical hemolytic uremic syndrome
Atypical HUS
aHUS

Associated phenotypes (HPO):
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001871
hpo_term: Abnormality of blood and blood-forming tissues
chpo_term: 血液和造血组织异常
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0001937
hpo_term: Microangiopathic hemolytic anemia
chpo_term: 微血管病性溶血性贫血
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0045040
hpo_term: Abnormal lactate dehydrogenase level
chpo_term: 乳酸脱氢酶活性异常
id: HP:0004431
hpo_term: Complement deficiency
chpo_term: 补体缺陷
id: HP:0005339
hpo_term: Abnormality of complement system
chpo_term: 补体系统异常
id: HP:0005356
hpo_term: Decreased serum complement factor I
chpo_term: 血清补体因子I减少
id: HP:0005416
hpo_term: Decreased serum complement factor B
chpo_term: 血清补体因子B降低
id: HP:0040229
hpo_term: Decreased level of thrombomodulin
chpo_term: 血栓调节素水平减低
Disease (ORPHA:221098):
Glossopharyngeal neuralgia

Associated phenotypes (HPO):
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001293
hpo_term: Cranial nerve compression
chpo_term: 颅神经受压
id: HP:0030164
hpo_term: Jaw claudication
chpo_term: 颌跛行
id: HP:0030766
hpo_term: Ear pain
chpo_term: 耳痛
id: HP:0030811
hpo_term: Tongue pain
chpo_term: 舌痛
id: HP:0032148
hpo_term: Episodic pain
chpo_term: 阵发性疼痛
id: HP:0200025
hpo_term: Mandibular pain
chpo_term: 下颌疼痛
id: HP:3000047
hpo_term: Abnormal glossopharyngeal nerve morphology
chpo_term: 舌咽神经形态异常
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003319
hpo_term: Abnormality of the cervical spine
chpo_term: 颈椎异常
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0007099
hpo_term: Chiari type I malformation
chpo_term: 小脑扁桃体下疝畸形（Chiari I 型畸形）
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012534
hpo_term: Dysesthesia
chpo_term: 感觉障碍
id: HP:0032043
hpo_term: Odynophagia
chpo_term: 吞咽疼痛
id: HP:0100008
hpo_term: Schwannoma
chpo_term: 神经鞘瘤
id: HP:0200136
hpo_term: Oral-pharyngeal dysphagia
chpo_term: 口咽部吞咽困难
Disease (ORPHA:2133):
Hemoglobin E disease

Associated phenotypes (HPO):
id: HP:0004840
hpo_term: Hypochromic microcytic anemia
chpo_term: 低色素性小红细胞性贫血
id: HP:0010972
hpo_term: Anemia of inadequate production
chpo_term: 红细胞 生成不足性贫血
id: HP:0011902
hpo_term: Abnormal hemoglobin
chpo_term: 血红蛋白异常
id: HP:0020059
hpo_term: Increased red blood cell count
chpo_term: 红细胞计数增高
id: HP:0025066
hpo_term: Decreased mean corpuscular volume
chpo_term: 红细胞平均体积减低
id: HP:0032231
hpo_term: Hypochromia
chpo_term: 低色素（红细胞）
id: HP:0011905
hpo_term: Reduced hemoglobin A
chpo_term: 血红蛋白A减低
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0004817
hpo_term: Drug-sensitive hemolytic anemia
chpo_term: 药物敏感溶血性贫血
id: HP:0005546
hpo_term: Increased red cell osmotic resistance
chpo_term: 红细胞渗透阻力增加
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
Disease (ORPHA:71289):
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
ATRUS syndrome

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004859
hpo_term: Amegakaryocytic thrombocytopenia
chpo_term: 巨核细胞缺乏性血小板减少症
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指