TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:858):
Toxoplasma embryopathy
Toxoplasma embryofetopathy
Congenital toxoplasmosis
Mother-to-child transmission of toxoplasmosis

Associated phenotypes (HPO):
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: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:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
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:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
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:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:853):
Fetal and neonatal alloimmune thrombocytopenia
FNAIT
NAIT

Associated phenotypes (HPO):
id: HP:0004809
hpo_term: Neonatal alloimmune thrombocytopenia
chpo_term: 新生儿同种免疫性血小板减少症
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0007420
hpo_term: Spontaneous hematomas
chpo_term: 自发性血肿
id: HP:0012541
hpo_term: Cephalohematoma
chpo_term: 胎头血肿
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002249
hpo_term: Melena
chpo_term: 黑便
id: HP:0031364
hpo_term: Ecchymosis
chpo_term: 瘀斑
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002138
hpo_term: Subarachnoid hemorrhage
chpo_term: 蛛网膜下腔出血
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
Disease (ORPHA:75377):
CACD
Areolar atrophy of the macula
Central areolar choroidal sclerosis
Central areolar choroidal dystrophy

Associated phenotypes (HPO):
id: HP:0030631
hpo_term: Hyperautofluorescent macular lesion
chpo_term: 强自发荧光型黄斑病变
id: HP:0031152
hpo_term: Full-thickness macular hole
chpo_term: 黄斑全层裂孔
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007894
hpo_term: Hypopigmentation of the fundus
chpo_term: 眼底的色素沉着不足
id: HP:0007924
hpo_term: Slow decrease in visual acuity
chpo_term: 视力缓慢下降
id: HP:0030615
hpo_term: Foveal photoreceptor outer segment loss on macular OCT
chpo_term: OCT 测量法黄斑区中心凹光感受器外段损失
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
id: HP:0007814
hpo_term: Retinal pigment epithelial mottling
chpo_term: 视网膜色素上皮斑驳
id: HP:0007980
hpo_term: Absent retinal pigment epithelium
chpo_term: 视网膜色素上皮缺如
id: HP:0011510
hpo_term: Drusen
chpo_term: 玻璃膜疣
id: HP:0030491
hpo_term: Choriocapillaris atrophy
chpo_term: 脉络膜毛细血管层萎缩
id: HP:0030629
hpo_term: Perifoveal ring of hyperautofluorescence
chpo_term: 中央凹周边强自动荧光环
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0007641
hpo_term: Dyschromatopsia
chpo_term: 色觉障碍
Disease (ORPHA:75378):
Oligocone syndrome
Oligocone trichromacy

Associated phenotypes (HPO):
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
Disease (ORPHA:893):
Del(11)(p13)
Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
WAGR syndrome
Monosomy 11p13
Deletion 11p13

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000364
hpo_term: Hearing abnormality
chpo_term: 听力异常
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
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:0007299
hpo_term: Dysfunction of lateral corticospinal tracts
chpo_term: 皮质脊髓侧束功能障碍
id: HP:0008053
hpo_term: Aplasia/Hypoplasia of the iris
chpo_term: 虹膜发育缺陷/不全
id: HP:0100627
hpo_term: Displacement of the urethral meatus
chpo_term: 尿道外口异位
Disease (ORPHA:892):
VHL
Von Hippel-Lindau syndrome
Von Hippel-Lindau disease
Lindau disease
Familial cerebelloretinal angiomatosis

Associated phenotypes (HPO):
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0005584
hpo_term: Renal cell carcinoma
chpo_term: 肾细胞癌
id: HP:0006748
hpo_term: Adrenal pheochromocytoma
chpo_term: 肾上腺嗜铬细胞瘤
id: HP:0006880
hpo_term: Cerebellar hemangioblastoma
chpo_term: 小脑血管母细胞瘤
id: HP:0009711
hpo_term: Retinal capillary hemangioma
chpo_term: 视网膜毛细血管瘤
id: HP:0011976
hpo_term: Elevated urinary catecholamines
chpo_term: 尿儿茶酚胺升高
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
id: HP:0001095
hpo_term: Hypertensive retinopathy
chpo_term: 高血压性视网膜病变
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001737
hpo_term: Pancreatic cysts
chpo_term: 胰腺囊肿
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0003334
hpo_term: Elevated circulating catecholamine level
chpo_term: 血儿茶酚胺水平升高
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0005162
hpo_term: Abnormal left ventricular function
chpo_term: 左心室功能异常
id: HP:0005562
hpo_term: Multiple renal cysts
chpo_term: 多发性肾囊肿
id: HP:0008261
hpo_term: Pancreatic islet cell adenoma
chpo_term: 胰岛细胞腺瘤
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0009715
hpo_term: Papillary cystadenoma of the epididymis
chpo_term: 附睾乳头状囊腺瘤
id: HP:0009763
hpo_term: Limb pain
chpo_term: 肢体疼痛
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0030393
hpo_term: Endolymphatic sac tumor
chpo_term: 内淋巴囊肿瘤
id: HP:0030405
hpo_term: Pancreatic endocrine tumor
chpo_term: 胰腺内分泌肿瘤
id: HP:0040049
hpo_term: Macular edema
chpo_term: 黄斑水肿
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001901
hpo_term: Polycythemia
chpo_term: 红细胞增多症
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0002668
hpo_term: Paraganglioma
chpo_term: 副神经节瘤
id: HP:0002894
hpo_term: Neoplasm of the pancreas
chpo_term: 胰腺肿瘤
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
id: HP:0030424
hpo_term: Epididymal cyst
chpo_term: 附睾囊肿
Disease (ORPHA:895):
Waardenburg syndrome type II
WS2
Waardenburg syndrome type 2

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001100
hpo_term: Heterochromia iridis
chpo_term: 虹膜异色
id: HP:0002211
hpo_term: White forelock
chpo_term: 额发变白
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
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:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0004414
hpo_term: Abnormality of the pulmonary artery
chpo_term: 肺动脉异常
Disease (ORPHA:894):
WS1
Waardenburg syndrome type 1
Waardenburg syndrome type I

Associated phenotypes (HPO):
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000632
hpo_term: Lacrimation abnormality
chpo_term: 泪液分泌异常
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001100
hpo_term: Heterochromia iridis
chpo_term: 虹膜异色
id: HP:0002211
hpo_term: White forelock
chpo_term: 额发变白
id: HP:0002226
hpo_term: White eyebrow
chpo_term: 白眉
id: HP:0002227
hpo_term: White eyelashes
chpo_term: 白睫
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0008527
hpo_term: Congenital sensorineural hearing impairment
chpo_term: 先天性感音神经性听力障碍
id: HP:0011364
hpo_term: White hair
chpo_term: 白发
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000912
hpo_term: Sprengel anomaly
chpo_term: 先天性肩胛骨向上移位（Sprengel畸形）
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0002435
hpo_term: Meningocele
chpo_term: 脑脊膜膨出
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:300536):
CDG syndrome type Ir
CDG-Ir
Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type Ir
CDG1R
Carbohydrate deficient glycoprotein syndrome type Ir
DDOST-CDG

Associated phenotypes (HPO):
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0003642
hpo_term: Type I transferrin isoform profile
chpo_term: I型转铁蛋白异构体谱
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0007301
hpo_term: Oromotor apraxia
chpo_term: 口部失用
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0410018
hpo_term: Recurrent ear infections
chpo_term: 反复耳部感染
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0000832
hpo_term: Primary hypothyroidism
chpo_term: 原发性甲状腺功能减退症
id: HP:0012593
hpo_term: Nephrotic range proteinuria
chpo_term: 肾性蛋白尿排泄增高
Disease (ORPHA:3042):
Primrose syndrome
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Associated phenotypes (HPO):
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
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:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002868
hpo_term: Narrow iliac wing
chpo_term: 髂骨翼狭窄
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0003301
hpo_term: Irregular vertebral endplates
chpo_term: 椎体终板不规则
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005103
hpo_term: Calcification of the auricular cartilage
chpo_term: 耳软骨钙化
id: HP:0005121
hpo_term: Posterior scalloping of vertebral bodies
chpo_term: 椎体后方扇形
id: HP:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0012062
hpo_term: Bone cyst
chpo_term: 骨囊肿
Disease (ORPHA:891):
Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR

Associated phenotypes (HPO):
id: HP:0007773
hpo_term: Vitreoretinopathy
chpo_term: 玻璃体视网膜病
id: HP:0007685
hpo_term: Peripheral retinal avascularization
chpo_term: 周边视网膜血管缺失
id: HP:0001493
hpo_term: Falciform retinal fold
chpo_term: 镰状视网膜皱襞
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007917
hpo_term: Tractional retinal detachment
chpo_term: 牵拉性视网膜脱离
id: HP:0012795
hpo_term: Abnormal optic disc morphology
chpo_term: 视盘形态异常
id: HP:0030666
hpo_term: Retinal neovascularization
chpo_term: 视网膜新生血管形成
id: HP:0031526
hpo_term: Subretinal fluid
chpo_term: 视网膜下积液
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001141
hpo_term: Severely reduced visual acuity
chpo_term: 视力严重下降
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0007902
hpo_term: Vitreous hemorrhage
chpo_term: 玻璃体出血
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0012230
hpo_term: Rhegmatogenous retinal detachment
chpo_term: 孔源性视网膜脱离
id: HP:0030496
hpo_term: Macular exudate
chpo_term: 黄斑渗出
id: HP:0030503
hpo_term: Macular telangiectasia
chpo_term: 黄斑毛细血管扩张
id: HP:0040049
hpo_term: Macular edema
chpo_term: 黄斑水肿
id: HP:0100014
hpo_term: Epiretinal membrane
chpo_term: 视网膜前膜
id: HP:0100832
hpo_term: Vitreous floaters
chpo_term: 玻璃体漂浮物
Disease (ORPHA:890):
Hepatic veno-occlusive disease
Sinusoidal obstruction syndrome

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
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:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003573
hpo_term: Increased total bilirubin
chpo_term: 总胆红素增加
id: HP:0004324
hpo_term: Increased body weight
chpo_term: 体重增加
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
id: HP:0002480
hpo_term: Hepatic encephalopathy
chpo_term: 肝性脑病
Disease (ORPHA:693661):
Activated PI3K-delta syndrome 1

Associated phenotypes (HPO):
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0011956
hpo_term: Intestinal lymphoid nodular hyperplasia
chpo_term: 肠淋巴样结节性增生
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000620
hpo_term: Dacryocystitis
chpo_term: 泪囊炎
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005401
hpo_term: Recurrent candida infections
chpo_term: 反复念珠菌感染
id: HP:0011110
hpo_term: Recurrent tonsillitis
chpo_term: 复发性扁桃体炎
id: HP:0020114
hpo_term: Persistent human papillomavirus infection
chpo_term: 持续性人乳头瘤病毒感染
id: HP:0032163
hpo_term: Molluscum contagiosum
chpo_term: 接触传染性软疣
id: HP:0032204
hpo_term: Chronic active Epstein-Barr virus infection
chpo_term: 慢性活动性EB病毒感染
id: HP:0032247
hpo_term: Persistent CMV viremia
chpo_term: 迁延性巨细胞病毒血症
id: HP:0200043
hpo_term: Verrucae
chpo_term: 疣
id: HP:0031699
hpo_term: Disseminated cryptosporidium infection
chpo_term: 播散性隐孢子虫感染
Disease (ORPHA:261483):
Dup(X)(q27.3q28)
Trisomy Xq27.3q28
Xq27.3q28 duplication syndrome
Trisomy Xq27.3-q28
Xq27.3-q28 microduplication syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
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:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
Disease (ORPHA:157215):
HHRH
Hereditary hypophosphatemic rickets with hypercalciuria

Associated phenotypes (HPO):
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:0003109
hpo_term: Hyperphosphaturia
chpo_term: 高磷酸盐尿症
id: HP:0004912
hpo_term: Hypophosphatemic rickets
chpo_term: 低磷性佝偻病
id: HP:0010639
hpo_term: Elevated alkaline phosphatase of bone origin
chpo_term: 骨源性碱性磷酸酶升高
id: HP:0031415
hpo_term: High serum calcitriol
chpo_term: 血清骨化三醇增高
id: HP:0031425
hpo_term: Increased circulating beta-C-terminal telopeptide level
chpo_term: β-C端肽水平增高
id: HP:0031428
hpo_term: Increased circulating osteocalcin level
chpo_term: 循环骨钙素水平升高
id: HP:0031817
hpo_term: Decreased circulating parathyroid hormone level
chpo_term: 甲状旁腺激素水平降低
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0012408
hpo_term: Medullary nephrocalcinosis
chpo_term: 肾髓质钙化症
id: HP:0000897
hpo_term: Rachitic rosary
chpo_term: 佝偻病念珠
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
Disease (ORPHA:168796):
Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome
Heart-hand syndrome, Slovenian type
Atriodigital dysplasia, Slovenian type

Associated phenotypes (HPO):
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0005115
hpo_term: Supraventricular arrhythmia
chpo_term: 室上性心律失常
id: HP:0005150
hpo_term: Abnormal atrioventricular conduction
chpo_term: 房室传导异常
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0011702
hpo_term: Abnormal electrophysiology of sinoatrial node origin
chpo_term: 窦房结源性电生理异常
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）