TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:3379):
Distal trisomy 17q
Telomeric duplication 17q
Distal duplication 17q syndrome
Trisomy 17qter

Associated phenotypes (HPO):
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0001161
hpo_term: Hand polydactyly
chpo_term: 多指
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0002000
hpo_term: Short columella
chpo_term: 鼻小柱短小
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0009911
hpo_term: Abnormal temporal bone morphology
chpo_term: 颞骨形态异常
id: HP:0000075
hpo_term: Renal duplication
chpo_term: 肾重复
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001747
hpo_term: Accessory spleen
chpo_term: 副脾
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0006897
hpo_term: Abducens palsy
chpo_term: 外展神经麻痹
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
Disease (ORPHA:294023):
Neonatal inflammatory skin and bowel disease

Associated phenotypes (HPO):
id: HP:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0001805
hpo_term: Onychogryposis
chpo_term: 厚甲
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0005406
hpo_term: Recurrent bacterial skin infections
chpo_term: 复发性细菌性皮肤感染
id: HP:0008396
hpo_term: Chronic monilial nail infection
chpo_term: 慢性念珠菌性甲感染
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011131
hpo_term: Perianal dermatitis
chpo_term: 肛周皮炎
id: HP:0011228
hpo_term: Horizontal eyebrow
chpo_term: 横眉
id: HP:0011354
hpo_term: Generalized abnormality of skin
chpo_term: 泛发性皮肤异常
id: HP:0012390
hpo_term: Anal fissure
chpo_term: 肛裂
id: HP:0025085
hpo_term: Bloody diarrhea
chpo_term: 便血
id: HP:0031123
hpo_term: Recurrent gastroenteritis
chpo_term: 复发性肠胃炎
id: HP:0040181
hpo_term: Chapped lip
chpo_term: 嘴唇皲裂
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0100038
hpo_term: Slow-growing scalp hair
chpo_term: 头发生长缓慢
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0410017
hpo_term: Otitis externa
chpo_term: 外耳炎
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
Disease (ORPHA:99921):
Chronic graft versus host disease

Associated phenotypes (HPO):
id: HP:0001058
hpo_term: Poor wound healing
chpo_term: 伤口愈合不良
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0007432
hpo_term: Intermittent generalized erythematous papular rash
chpo_term: 间歇性弥漫性红色斑丘疹
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000495
hpo_term: Recurrent corneal erosions
chpo_term: 复发性角膜糜烂
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001806
hpo_term: Onycholysis
chpo_term: 甲分离
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012537
hpo_term: Food intolerance
chpo_term: 食物不耐受
id: HP:0000142
hpo_term: Abnormal vagina morphology
chpo_term: 阴道形态异常
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001741
hpo_term: Phimosis
chpo_term: 包茎
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002031
hpo_term: Abnormal esophagus morphology
chpo_term: 食管形态结构异常
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002043
hpo_term: Esophageal stricture
chpo_term: 食管狭窄
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0004791
hpo_term: Esophageal ulceration
chpo_term: 食管溃疡
id: HP:0006536
hpo_term: Airway obstruction
chpo_term: 气道阻塞
id: HP:0011946
hpo_term: Bronchiolitis obliterans
chpo_term: 闭塞性细支气管炎
id: HP:0012181
hpo_term: Entrapment neuropathy
chpo_term: 压迫性神经病
id: HP:0012344
hpo_term: Morphea
chpo_term: 局限性硬皮病
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0025270
hpo_term: Abnormal esophagus physiology
chpo_term: 食管生理异常
id: HP:0030828
hpo_term: Wheezing
chpo_term: 哮鸣音
id: HP:0100537
hpo_term: Fasciitis
chpo_term: 筋膜炎
id: HP:0100577
hpo_term: Urinary bladder inflammation
chpo_term: 膀胱炎
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:48372):
Nodular regenerative hyperplasia of the liver
Non-cirrhotic nodulation

Associated phenotypes (HPO):
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0006707
hpo_term: Abnormality of the hepatic vasculature
chpo_term: 肝脏血管异常
Disease (ORPHA:3361):
Trichodysplasia-xeroderma syndrome

Associated phenotypes (HPO):
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0002552
hpo_term: Trichodysplasia
chpo_term: 毛发发育异常
id: HP:0003777
hpo_term: Pili torti
chpo_term: 卷发
id: HP:0009886
hpo_term: Trichorrhexis nodosa
chpo_term: 结节性脆发症
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
Disease (ORPHA:2031):
Thompson-Baraitser syndrome
Hepatic fibrosis-renal cysts-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0000364
hpo_term: Hearing abnormality
chpo_term: 听力异常
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
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:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
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:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002435
hpo_term: Meningocele
chpo_term: 脑脊膜膨出
id: HP:0002612
hpo_term: Congenital hepatic fibrosis
chpo_term: 先天性肝纤维化
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004422
hpo_term: Biparietal narrowing
chpo_term: 双侧顶骨部收窄
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:47045):
Familial cold urticaria
Familial cold autoinflammatory syndrome
FCU
FCAS

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012534
hpo_term: Dysesthesia
chpo_term: 感觉障碍
Disease (ORPHA:48377):
Sneddon-Wilkinson disease
Pustulosis subcornealis
Subcorneal pustular dermatosis
Subcorneal pustular dermatitis

Associated phenotypes (HPO):
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000836
hpo_term: Hyperthyroidism
chpo_term: 甲状腺功能亢进症
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001370
hpo_term: Rheumatoid arthritis
chpo_term: 类风湿关节炎
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0006775
hpo_term: Multiple myeloma
chpo_term: 多发性骨髓瘤
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
Disease (ORPHA:2038):
Pulmonary arteriovenous malformation
PAVM

Associated phenotypes (HPO):
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0004952
hpo_term: Pulmonary arteriovenous fistulas
chpo_term: 肺动静脉瘘
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002140
hpo_term: Ischemic stroke
chpo_term: 缺血性脑卒中
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0012151
hpo_term: Hemothorax
chpo_term: 血胸
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001891
hpo_term: Iron deficiency anemia
chpo_term: 缺铁性贫血
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0001977
hpo_term: Abnormal thrombosis
chpo_term: 异常血栓形成
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0006689
hpo_term: Bacterial endocarditis
chpo_term: 细菌性心内膜炎
id: HP:0011919
hpo_term: Pleural empyema
chpo_term: 脓胸
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0030049
hpo_term: Brain abscess
chpo_term: 脑脓肿
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0040223
hpo_term: Pulmonary hemorrhage
chpo_term: 肺出血
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002722
hpo_term: Recurrent abscess formation
chpo_term: 反复脓肿形成
id: HP:0005244
hpo_term: Gastrointestinal infarctions
chpo_term: 胃肠道梗塞
id: HP:0100523
hpo_term: Liver abscess
chpo_term: 肝脓肿
Disease (ORPHA:2036):
Finlay-Marks syndrome
Scalp-ear-nipple syndrome

Associated phenotypes (HPO):
id: HP:0000385
hpo_term: Small earlobe
chpo_term: 小耳垂
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0001965
hpo_term: Abnormal scalp morphology
chpo_term: 头皮形态异常
id: HP:0006709
hpo_term: Aplasia/Hypoplasia of the nipples
chpo_term: 乳头发育不全/不良
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0009738
hpo_term: Abnormal antihelix morphology
chpo_term: 对耳轮形态异常
id: HP:0011251
hpo_term: Underdeveloped antitragus
chpo_term: 对耳屏发育不良
id: HP:0011272
hpo_term: Underdeveloped tragus
chpo_term: 耳屏发育不良
id: HP:0100783
hpo_term: Breast aplasia
chpo_term: 乳房发育不全
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
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:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0000073
hpo_term: Ureteral duplication
chpo_term: 输尿管重复
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000625
hpo_term: Eyelid coloboma
chpo_term: 眼睑缺损
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0005580
hpo_term: Duplication of renal pelvis
chpo_term: 双肾盂
id: HP:0012330
hpo_term: Pyelonephritis
chpo_term: 肾盂肾炎
Disease (ORPHA:35062):
Severe disseminated CMV infection in immunocompetent patients
Severe disseminated cytomegalovirus infection in immunocompetent patients

Associated phenotypes (HPO):
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
id: HP:0033431
hpo_term: Cytomegalovirus colitis
chpo_term: 巨细胞病毒性结肠炎
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0006515
hpo_term: Interstitial pneumonitis
chpo_term: 间质性肺炎
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0012486
hpo_term: Myelitis
chpo_term: 脊髓炎
id: HP:0032118
hpo_term: Retinitis
chpo_term: 视网膜炎
id: HP:0033993
hpo_term: Viral encephalitis
chpo_term: 病毒性脑炎
id: HP:0430087
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0012223
hpo_term: Splenic rupture
chpo_term: 脾破裂
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0025143
hpo_term: Chills
chpo_term: 寒栗
id: HP:0033117
hpo_term: Duodenitis
chpo_term: 十二指肠炎
Disease (ORPHA:209908):
Isolated developmental verbal dyspraxia
Isolated CAS
Isolated childhood apraxia of speech
Speech and language disorder with orofacial dyspraxia
Pure CAS
Pure childhood apraxia of speech
Speech-language disorder type 1

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002474
hpo_term: Expressive language delay
chpo_term: 语言表达延迟
id: HP:0002546
hpo_term: Incomprehensible speech
chpo_term: 难以理解的言语
id: HP:0006977
hpo_term: Grammar-specific speech disorder
chpo_term: 语法性语言障碍
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0010863
hpo_term: Receptive language delay
chpo_term: 接受性语言发育迟缓
id: HP:0011098
hpo_term: Speech apraxia
chpo_term: 失读症
id: HP:0031434
hpo_term: Abnormal speech prosody
chpo_term: 说话韵律异常
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002339
hpo_term: Abnormal caudate nucleus morphology
chpo_term: 尾状核形态异常
id: HP:0002340
hpo_term: Caudate atrophy
chpo_term: 尾状核萎缩
id: HP:0007015
hpo_term: Poor gross motor coordination
chpo_term: 粗大运动协调差
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012434
hpo_term: Delayed social development
chpo_term: 社交发育迟缓
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0011228
hpo_term: Horizontal eyebrow
chpo_term: 横眉
Disease (ORPHA:2035):
Lymphatic filariasis

Associated phenotypes (HPO):
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0003550
hpo_term: Predominantly lower limb lymphedema
chpo_term: 主要累及下肢的淋巴水肿
id: HP:0100763
hpo_term: Abnormality of the lymphatic system
chpo_term: 淋巴系统异常
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0002840
hpo_term: Lymphadenitis
chpo_term: 淋巴结炎
id: HP:0012224
hpo_term: Circulating immune complexes
chpo_term: 循环免疫复合物
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0032061
hpo_term: Hypereosinophilia
chpo_term: 高嗜酸性粒细胞
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0000045
hpo_term: Abnormality of the scrotum
chpo_term: 阴囊异常
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002088
hpo_term: Abnormal lung morphology
chpo_term: 肺部形态异常
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0030828
hpo_term: Wheezing
chpo_term: 哮鸣音
id: HP:0031690
hpo_term: Opportunistic infection
chpo_term: 机会性感染
id: HP:0031842
hpo_term: Lymphangiectasis
chpo_term: 淋巴管扩张
id: HP:0032260
hpo_term: Opportunistic bacterial infection
chpo_term: 机会性细菌感染
id: HP:0100673
hpo_term: Vaginal hydrocele
chpo_term: 阴道积液
id: HP:0100796
hpo_term: Orchitis
chpo_term: 睾丸炎
id: HP:0000031
hpo_term: Epididymitis
chpo_term: 附睾炎
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000099
hpo_term: Glomerulonephritis
chpo_term: 肾小球肾炎
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000796
hpo_term: Urethral obstruction
chpo_term: 尿道梗阻
id: HP:0001785
hpo_term: Ankle swelling
chpo_term: 踝关节肿胀
id: HP:0005086
hpo_term: Knee osteoarthritis
chpo_term: 膝关节骨性关节炎
id: HP:0008763
hpo_term: No social interaction
chpo_term: 无社会交往
Disease (ORPHA:2032):
IPF
Idiopathic pulmonary fibrosis

Associated phenotypes (HPO):
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
id: HP:0001063
hpo_term: Acrocyanosis
chpo_term: 手足发绀
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0025175
hpo_term: Honeycomb lung
chpo_term: 蜂窝状肺
id: HP:0025179
hpo_term: Ground-glass opacification
chpo_term: 毛玻璃样结构
id: HP:0025390
hpo_term: Reticular pattern on pulmonary HRCT
chpo_term: 肺部HRCT可见网状结构
id: HP:0030830
hpo_term: Crackles
chpo_term: 肺啰音
id: HP:0031631
hpo_term: Subpleural honeycombing
chpo_term: 胸膜下蜂窝状结构
id: HP:0031950
hpo_term: Usual interstitial pneumonia
chpo_term: 寻常性间质性肺炎
id: HP:0032341
hpo_term: Reduced forced vital capacity
chpo_term: 用力肺活量降低
id: HP:0045051
hpo_term: Decreased DLCO
chpo_term: 一氧化碳弥散量减少
id: HP:0100759
hpo_term: Clubbing of fingers
chpo_term: 杵状指
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0010444
hpo_term: Pulmonary insufficiency
chpo_term: 肺动脉瓣关闭不全
id: HP:0033367
hpo_term: Orthodeoxia
chpo_term: 直立低氧血症
Disease (ORPHA:3363):
Oliver-McFarlane syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Long eyelashes-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
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:0003265
hpo_term: Neonatal hyperbilirubinemia
chpo_term: 新生儿高胆红素血症
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
Disease (ORPHA:3366):
Isolated metopic craniosynostosis
Non-syndromic metopic craniosynostosis
Isolated trigonocephaly
Non-syndromic metopic suture synostosis

Associated phenotypes (HPO):
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
id: HP:0011330
hpo_term: Metopic synostosis
chpo_term: 额缝早闭
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高