TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:733):
FAP
Colorectal adenomatous polyposis
Familial adenomatous polyposis
Familial polyposis coli

Associated phenotypes (HPO):
id: HP:0030434
hpo_term: Pilomatrixoma
chpo_term: 毛母质瘤
id: HP:0030692
hpo_term: Brain neoplasm
chpo_term: 脑肿瘤
id: HP:0031459
hpo_term: Soft tissue neoplasm
chpo_term: 软组织肿瘤
id: HP:0040274
hpo_term: Adenocarcinoma of the small intestine
chpo_term: 小肠腺癌
id: HP:0100575
hpo_term: Neoplasm of the gallbladder
chpo_term: 胆囊新生物
id: HP:0100646
hpo_term: Thyroiditis
chpo_term: 甲状腺炎
id: HP:0200040
hpo_term: Epidermoid cyst
chpo_term: 表皮样囊肿
id: HP:0003003
hpo_term: Colon cancer
chpo_term: 结肠癌
id: HP:0005227
hpo_term: Adenomatous colonic polyposis
chpo_term: 腺瘤性结肠息肉病
id: HP:0007378
hpo_term: Neoplasm of the gastrointestinal tract
chpo_term: 胃肠道新生物
id: HP:0007649
hpo_term: Congenital hypertrophy of retinal pigment epithelium
chpo_term: 先天性视网膜色素上皮肥大
id: HP:0100245
hpo_term: Desmoid tumors
chpo_term: 硬性纤维瘤
id: HP:0200063
hpo_term: Colorectal polyposis
chpo_term: 结直肠息肉病
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0004394
hpo_term: Multiple gastric polyps
chpo_term: 多发性胃息肉
id: HP:0004783
hpo_term: Duodenal polyposis
chpo_term: 十二指肠息肉
id: HP:0025388
hpo_term: Thyroid nodule
chpo_term: 甲状腺结节
id: HP:0100246
hpo_term: Osteoma
chpo_term: 骨瘤
id: HP:0000706
hpo_term: Eruption failure
chpo_term: 牙萌出失败
id: HP:0000820
hpo_term: Abnormality of the thyroid gland
chpo_term: 甲状腺异常
id: HP:0002895
hpo_term: Papillary thyroid carcinoma
chpo_term: 甲状腺乳头状癌
id: HP:0006771
hpo_term: Duodenal adenocarcinoma
chpo_term: 十二指肠腺癌
id: HP:0008256
hpo_term: Adrenocortical adenoma
chpo_term: 肾上腺皮质腺瘤
id: HP:0010615
hpo_term: Angiofibromas
chpo_term: 血管纤维瘤
id: HP:0011068
hpo_term: Odontoma
chpo_term: 牙瘤
id: HP:0011069
hpo_term: Supernumerary tooth
chpo_term: 多生牙
id: HP:0100631
hpo_term: Neoplasm of the adrenal gland
chpo_term: 肾上腺肿瘤
id: HP:0100717
hpo_term: Abnormal cementum morphology
chpo_term: 牙骨质形态异常
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0002884
hpo_term: Hepatoblastoma
chpo_term: 肝母细胞瘤
id: HP:0002885
hpo_term: Medulloblastoma
chpo_term: 髓母细胞瘤
id: HP:0002888
hpo_term: Ependymoma
chpo_term: 室管膜瘤
id: HP:0002893
hpo_term: Pituitary adenoma
chpo_term: 垂体腺瘤
id: HP:0005230
hpo_term: Biliary tract obstruction
chpo_term: 胆道梗阻
id: HP:0006725
hpo_term: Pancreatic adenocarcinoma
chpo_term: 胰腺腺癌
id: HP:0009592
hpo_term: Astrocytoma
chpo_term: 星形细胞瘤
id: HP:0010614
hpo_term: Fibroma
chpo_term: 纤维瘤
id: HP:0011355
hpo_term: Localized skin lesion
chpo_term: 局限性皮损
id: HP:0012032
hpo_term: Lipoma
chpo_term: 脂肪瘤
id: HP:0012126
hpo_term: Stomach cancer
chpo_term: 胃癌
id: HP:0030153
hpo_term: Cholangiocarcinoma
chpo_term: 胆管癌
Disease (ORPHA:772):
Infantile Refsum disease
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
IRD
Mild PBD-ZSD

Associated phenotypes (HPO):
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
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:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003323
hpo_term: Progressive muscle weakness
chpo_term: 进行性肌无力
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008167
hpo_term: Very long chain fatty acid accumulation
chpo_term: 极长链脂肪酸堆积
id: HP:0010571
hpo_term: Elevated levels of phytanic acid
chpo_term: 植烷酸水平升高
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
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:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
Disease (ORPHA:774):
Rendu-Osler disease
Rendu-Osler-Weber disease
HHT
Hereditary hemorrhagic telangiectasia

Associated phenotypes (HPO):
id: HP:0000214
hpo_term: Lip telangiectasia
chpo_term: 唇部毛细血管扩张
id: HP:0000227
hpo_term: Tongue telangiectasia
chpo_term: 舌毛细血管扩张
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000434
hpo_term: Nasal mucosa telangiectasia
chpo_term: 鼻粘膜毛细血管扩张
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0004406
hpo_term: Spontaneous, recurrent epistaxis
chpo_term: 复发性自发鼻衄
id: HP:0100579
hpo_term: Mucosal telangiectasiae
chpo_term: 粘膜毛细血管扩张
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0006548
hpo_term: Pulmonary arteriovenous malformation
chpo_term: 肺动静脉畸形
id: HP:0006574
hpo_term: Hepatic arteriovenous malformation
chpo_term: 肝动静脉畸形
id: HP:0011025
hpo_term: Abnormal cardiovascular system physiology
chpo_term: 心血管系统生理异常
id: HP:0100026
hpo_term: Arteriovenous malformation
chpo_term: 动静脉畸形
id: HP:0100761
hpo_term: Visceral angiomatosis
chpo_term: 内脏血管瘤病
id: HP:0000524
hpo_term: Conjunctival telangiectasia
chpo_term: 结膜毛细血管扩张
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
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:0002138
hpo_term: Subarachnoid hemorrhage
chpo_term: 蛛网膜下腔出血
id: HP:0002204
hpo_term: Pulmonary embolism
chpo_term: 肺栓塞
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0002408
hpo_term: Cerebral arteriovenous malformation
chpo_term: 脑动静脉畸形
id: HP:0002629
hpo_term: Gastrointestinal arteriovenous malformation
chpo_term: 胃肠道动静脉畸形
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0007763
hpo_term: Retinal telangiectasia
chpo_term: 视网膜毛细血管扩张
id: HP:0100659
hpo_term: Abnormal cerebral vascular morphology
chpo_term: 脑血管形态异常
id: HP:0100784
hpo_term: Peripheral arteriovenous fistula
chpo_term: 外围动静脉瘘
id: HP:0200008
hpo_term: Intestinal polyposis
chpo_term: 肠息肉病
Disease (ORPHA:773):
HMSN 4
Heredopathia atactica polyneuritiformis
HMSN IV
Hereditary motor and sensory neuropathy type 4
Hereditary motor and sensory neuropathy type IV
Classic Refsum disease
Refsum disease
Phytanic-CoA hydroxylase deficiency
Adult Refsum disease

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
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:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
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:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000616
hpo_term: Miosis
chpo_term: 瞳孔缩小
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012722
hpo_term: Heart block
chpo_term: 心脏传导阻滞
Disease (ORPHA:770):
Rabies

Associated phenotypes (HPO):
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003781
hpo_term: Excessive salivation
chpo_term: 唾液分泌过多
id: HP:0004372
hpo_term: Reduced consciousness/confusion
chpo_term: 意识减弱/意识错乱
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0100776
hpo_term: Recurrent pharyngitis
chpo_term: 复发性咽炎
id: HP:0100785
hpo_term: Insomnia
chpo_term: 失眠
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001604
hpo_term: Vocal cord paresis
chpo_term: 声带不全性麻痹
Disease (ORPHA:324625):
Chikungunya

Associated phenotypes (HPO):
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000745
hpo_term: Diminished motivation
chpo_term: 动机减弱
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0005198
hpo_term: Stiff interphalangeal joints
chpo_term: 指关节僵硬
id: HP:0007483
hpo_term: Depigmentation/hyperpigmentation of skin
chpo_term: 皮肤色素脱失/色素沉着
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0030834
hpo_term: Shoulder pain
chpo_term: 肩痛
id: HP:0030839
hpo_term: Knee pain
chpo_term: 膝痛
id: HP:0040186
hpo_term: Maculopapular exanthema
chpo_term: 斑丘疹样皮疹
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
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:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0007473
hpo_term: Crusting erythematous dermatitis
chpo_term: 结痂性红斑样皮炎
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0012219
hpo_term: Erythema nodosum
chpo_term: 结节性红斑
id: HP:0025143
hpo_term: Chills
chpo_term: 寒栗
id: HP:0025232
hpo_term: Bursitis
chpo_term: 滑囊炎
id: HP:0025289
hpo_term: Cervical lymphadenopathy
chpo_term: 颈部淋巴结病变
id: HP:0025337
hpo_term: Red eye
chpo_term: 红眼
id: HP:0032063
hpo_term: Ankle joint effusion
chpo_term: 踝关节积液
id: HP:0040165
hpo_term: Periostitis
chpo_term: 骨膜炎
id: HP:0100686
hpo_term: Enthesitis
chpo_term: 附着点炎
id: HP:0100769
hpo_term: Synovitis
chpo_term: 滑膜炎
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003406
hpo_term: Peripheral nerve compression
chpo_term: 周围神经受压
id: HP:0012185
hpo_term: Constrictive median neuropathy
chpo_term: 压迫性正中神经病变
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0031002
hpo_term: Neuritis
chpo_term: 神经炎
Disease (ORPHA:66518):
Short fifth metacarpals-insulin resistance syndrome

Associated phenotypes (HPO):
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0004444
hpo_term: Spherocytosis
chpo_term: 球形红细胞增多症
id: HP:0010047
hpo_term: Short 5th metacarpal
chpo_term: 第五掌骨短小
id: HP:0001742
hpo_term: Nasal congestion
chpo_term: 鼻塞
Disease (ORPHA:765):
Pyruvate dehydrogenase deficiency
Pyruvate dehydrogenase complex deficiency
PDHC
PDH

Associated phenotypes (HPO):
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
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:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001012
hpo_term: Multiple lipomas
chpo_term: 多发性脂肪瘤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0100453
hpo_term: Osteolytic defects of the middle phalanx of the 4th toe
chpo_term: 第四趾中节趾骨溶骨性缺陷
Disease (ORPHA:166016):
Multiple epiphyseal dysplasia with Robin phenotype
Multiple epiphyseal dysplasia, Lowry type

Associated phenotypes (HPO):
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:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000766
hpo_term: Abnormal sternum morphology
chpo_term: 胸骨形态异常
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0002663
hpo_term: Delayed epiphyseal ossification
chpo_term: 骨骺骨化延迟
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
id: HP:0003071
hpo_term: Flattened epiphysis
chpo_term: 扁平骨骺
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0010585
hpo_term: Small epiphyses
chpo_term: 小骨骺
id: HP:0100168
hpo_term: Fragmented epiphyses
chpo_term: 骨骺碎裂
id: HP:0410005
hpo_term: Cleft hard palate
chpo_term: 硬腭裂
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0006471
hpo_term: Fixed elbow flexion
chpo_term: 肘关节曲位固定
Disease (ORPHA:764):
Tropical pyomyositis
PM
Myositis tropicans
Myositis purulenta tropica
Pyomyositis
Suppurative myositis

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
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:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0100614
hpo_term: Myositis
chpo_term: 肌炎
id: HP:0100616
hpo_term: Testicular teratoma
chpo_term: 睾丸畸胎瘤
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0100838
hpo_term: Recurrent cutaneous abscess formation
chpo_term: 复发性皮肤脓肿
Disease (ORPHA:767):
Polyarteritis nodosa
Periarteritis nodosa
PAN
Küssmaul-Maier disease

Associated phenotypes (HPO):
id: HP:0011121
hpo_term: Abnormality of skin morphology
chpo_term: 皮肤形态异常
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
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:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0005764
hpo_term: Polyarticular arthritis
chpo_term: 多发性关节炎
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0031003
hpo_term: Polyneuritis
chpo_term: 多发性神经炎
id: HP:0033260
hpo_term: Livedo racemosa
chpo_term: 葡萄状青斑
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
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:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002088
hpo_term: Abnormal lung morphology
chpo_term: 肺部形态异常
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0002102
hpo_term: Pleuritis
chpo_term: 胸膜炎
Disease (ORPHA:766):
Hemolytic anemia due to red cell pyruvate kinase deficiency
Pyruvate kinase deficiency of erythrocytes

Associated phenotypes (HPO):
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0004870
hpo_term: Chronic hemolytic anemia
chpo_term: 慢性溶血性贫血
id: HP:0008282
hpo_term: Unconjugated hyperbilirubinemia
chpo_term: 高非结合胆红素血症
id: HP:0025109
hpo_term: Reduced red cell pyruvate kinase level
chpo_term: 红细胞丙酮酸激酶活性降低
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0003452
hpo_term: Increased serum iron
chpo_term: 血清铁离子增高
id: HP:0004804
hpo_term: Congenital hemolytic anemia
chpo_term: 先天性溶血性贫血
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0001877
hpo_term: Abnormal erythrocyte morphology
chpo_term: 红细胞形态异常
id: HP:0004447
hpo_term: Poikilocytosis
chpo_term: 异形性红细胞
id: HP:0011273
hpo_term: Anisocytosis
chpo_term: 红细胞大小不均
id: HP:0012463
hpo_term: Elevated transferrin saturation
chpo_term: 转铁蛋白饱和度升高
Disease (ORPHA:206559):
Limb-girdle muscular dystrophy type 2N
Autosomal recessive limb-girdle muscular dystrophy type 2N
POMT2-related LGMD R14
POMT2-related limb-girdle muscular dystrophy R14
LGMD type 2N
LGMD2N

Associated phenotypes (HPO):
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0006785
hpo_term: Limb-girdle muscular dystrophy
chpo_term: 肢带型肌营养不良症
id: HP:0030099
hpo_term: Reduced muscle fiber alpha dystroglycan
chpo_term: 肌纤维α-肌营养不良蛋白聚糖减少
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0007126
hpo_term: Proximal amyotrophy
chpo_term: 近端肌萎缩
id: HP:0030197
hpo_term: Fatigable weakness of skeletal muscles
chpo_term: 骨骼肌疲劳性无力
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0003697
hpo_term: Scapuloperoneal amyotrophy
chpo_term: 肩腓肌萎缩
id: HP:0006913
hpo_term: Frontal cortical atrophy
chpo_term: 额叶皮质萎缩
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0011712
hpo_term: Right bundle branch block
chpo_term: 右束支传导阻滞
id: HP:0025169
hpo_term: Left ventricular systolic dysfunction
chpo_term: 左心室收缩功能障碍