TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:524):
Li-Fraumeni syndrome

Associated phenotypes (HPO):
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0001909
hpo_term: Leukemia
chpo_term: 白血病
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0002669
hpo_term: Osteosarcoma
chpo_term: 骨肉瘤
id: HP:0002859
hpo_term: Rhabdomyosarcoma
chpo_term: 横纹肌肉瘤
id: HP:0002888
hpo_term: Ependymoma
chpo_term: 室管膜瘤
id: HP:0006744
hpo_term: Adrenocortical carcinoma
chpo_term: 肾上腺皮质癌
id: HP:0007378
hpo_term: Neoplasm of the gastrointestinal tract
chpo_term: 胃肠道新生物
id: HP:0009592
hpo_term: Astrocytoma
chpo_term: 星形细胞瘤
id: HP:0012126
hpo_term: Stomach cancer
chpo_term: 胃癌
id: HP:0012174
hpo_term: Glioblastoma multiforme
chpo_term: 多形性胶质母细胞瘤
id: HP:0030070
hpo_term: Central primitive neuroectodermal tumor
chpo_term: 中枢性原始神经外胚层肿瘤
id: HP:0030392
hpo_term: Choroid plexus carcinoma
chpo_term: 脉络丛癌
id: HP:0100006
hpo_term: Neoplasm of the central nervous system
chpo_term: 中枢神经系统的肿瘤
id: HP:0200063
hpo_term: Colorectal polyposis
chpo_term: 结直肠息肉病
id: HP:0002861
hpo_term: Melanoma
chpo_term: 黑色素瘤
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0002885
hpo_term: Medulloblastoma
chpo_term: 髓母细胞瘤
id: HP:0002890
hpo_term: Thyroid carcinoma
chpo_term: 甲状腺癌
id: HP:0002894
hpo_term: Neoplasm of the pancreas
chpo_term: 胰腺肿瘤
id: HP:0003003
hpo_term: Colon cancer
chpo_term: 结肠癌
id: HP:0004808
hpo_term: Acute myeloid leukemia
chpo_term: 急性髓性白血病
id: HP:0006721
hpo_term: Acute lymphoblastic leukemia
chpo_term: 急性淋巴细胞白血病
id: HP:0009726
hpo_term: Renal neoplasm
chpo_term: 肾肿瘤
id: HP:0010788
hpo_term: Testicular neoplasm
chpo_term: 睾丸肿瘤
id: HP:0012125
hpo_term: Prostate cancer
chpo_term: 前列腺癌
id: HP:0012189
hpo_term: Hodgkin lymphoma
chpo_term: 霍奇金淋巴瘤
id: HP:0012288
hpo_term: Neoplasm of head and neck
chpo_term: 头颈部肿瘤
id: HP:0012539
hpo_term: Non-Hodgkin lymphoma
chpo_term: 非霍奇金淋巴瘤
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
id: HP:0100605
hpo_term: Neoplasm of the larynx
chpo_term: 喉部肿瘤
id: HP:0100615
hpo_term: Ovarian neoplasm
chpo_term: 卵巢肿瘤
id: HP:0100743
hpo_term: Neoplasm of the rectum
chpo_term: 直肠肿瘤
id: HP:0100768
hpo_term: Choriocarcinoma
chpo_term: 绒癌
Disease (ORPHA:31205):
Rat-bite fever

Associated phenotypes (HPO):
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0012282
hpo_term: Morbilliform rash
chpo_term: 麻疹样皮疹
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002374
hpo_term: Diminished movement
chpo_term: 运动减少
id: HP:0002840
hpo_term: Lymphadenitis
chpo_term: 淋巴结炎
id: HP:0003095
hpo_term: Septic arthritis
chpo_term: 化脓性关节炎
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
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:0025145
hpo_term: Rigors
chpo_term: 僵硬
id: HP:0025439
hpo_term: Pharyngitis
chpo_term: 咽炎
id: HP:0040186
hpo_term: Maculopapular exanthema
chpo_term: 斑丘疹样皮疹
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0040313
hpo_term: Oligoarthritis
chpo_term: 寡关节炎
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0011850
hpo_term: Parotitis
chpo_term: 腮腺炎
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
id: HP:0025181
hpo_term: Abdominal aseptic abscess
chpo_term: 腹腔无菌性脓肿
id: HP:0025230
hpo_term: Tendonitis
chpo_term: 肌腱炎
id: HP:0100584
hpo_term: Endocarditis
chpo_term: 心内膜炎
Disease (ORPHA:8):
47,XYY syndrome
Double Y syndrome
Jacobs syndrome
XYY syndrome
Y disomy

Associated phenotypes (HPO):
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000805
hpo_term: Enuresis
chpo_term: 遗尿症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007642
hpo_term: Congenital stationary night blindness
chpo_term: 先天性静止性夜盲症
id: HP:0040019
hpo_term: Finger clinodactyly
chpo_term: 指弯曲
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
id: HP:0000837
hpo_term: Increased circulating gonadotropin level
chpo_term: 促性腺激素水平升高
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001572
hpo_term: Macrodontia
chpo_term: 巨牙
id: HP:0002195
hpo_term: Dysgenesis of the cerebellar vermis
chpo_term: 小脑蚓部发育不全
id: HP:0002363
hpo_term: Abnormal brainstem morphology
chpo_term: 脑干形态异常
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0007033
hpo_term: Cerebellar dysplasia
chpo_term: 小脑发育不良
id: HP:0010865
hpo_term: Oppositional defiant disorder
chpo_term: 对立违抗性障碍
id: HP:0012871
hpo_term: Varicocele
chpo_term: 精索静脉曲张
id: HP:0030088
hpo_term: Increased serum testosterone level
chpo_term: 血清睾酮水平增高
id: HP:0040183
hpo_term: Encopresis
chpo_term: 大便失禁
id: HP:0100033
hpo_term: Tics
chpo_term: 抽动症
id: HP:0100851
hpo_term: Abnormal emotion/affect behavior
chpo_term: 异常情绪/情感行为
id: HP:0008770
hpo_term: Obsessive-compulsive trait
chpo_term: 强迫特质
Disease (ORPHA:521):
Chronic myelogenous leukemia
CML
Chronic granulocytic leukemia
Chronic myeloid leukemia

Associated phenotypes (HPO):
id: HP:0005547
hpo_term: Myeloproliferative disorder
chpo_term: 骨髓增生性疾病
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
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:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0001911
hpo_term: Abnormal granulocyte morphology
chpo_term: 粒细胞形态异常
id: HP:0001912
hpo_term: Abnormal basophil morphology
chpo_term: 嗜碱性粒细胞形态异常
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:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
Disease (ORPHA:5):
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
LCHADD
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
LCHAD deficiency

Associated phenotypes (HPO):
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001985
hpo_term: Hypoketotic hypoglycemia
chpo_term: 低酮性低血糖
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
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:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000532
hpo_term: Abnormal chorioretinal morphology
chpo_term: 脉络膜视网膜形态异常
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002611
hpo_term: Cholestatic liver disease
chpo_term: 胆汁淤积性肝病
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0030856
hpo_term: Posterior staphyloma
chpo_term: 后巩膜葡萄肿
Disease (ORPHA:6):
MCC deficiency
MCCD
3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonylglycinuria

Associated phenotypes (HPO):
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:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0001992
hpo_term: Organic aciduria
chpo_term: 有机酸尿症
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0004357
hpo_term: Abnormal circulating leucine concentration
chpo_term: 亮氨酸代谢异常
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0100659
hpo_term: Abnormal cerebral vascular morphology
chpo_term: 脑血管形态异常
Disease (ORPHA:520):
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
Acute myeloblastic leukemia 3
APML
Acute promyelocytic leukemia
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
AML M3

Associated phenotypes (HPO):
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0005521
hpo_term: Disseminated intravascular coagulation
chpo_term: 弥漫性血管内凝血
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0031020
hpo_term: Bone marrow hypercellularity
chpo_term: 骨髓细胞过多
id: HP:0031035
hpo_term: Chronic infection
chpo_term: 慢性感染
id: HP:0031364
hpo_term: Ecchymosis
chpo_term: 瘀斑
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0010280
hpo_term: Stomatitis
chpo_term: 口腔炎
id: HP:0011900
hpo_term: Hypofibrinogenemia
chpo_term: 低纤维蛋白原血症
id: HP:0025420
hpo_term: Diffuse alveolar hemorrhage
chpo_term: 弥漫性肺泡出血
id: HP:0030140
hpo_term: Oral cavity bleeding
chpo_term: 口腔出血
id: HP:0030955
hpo_term: Alcoholism
chpo_term: 酗酒
id: HP:0031245
hpo_term: Productive cough
chpo_term: 痰咳
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0100608
hpo_term: Metrorrhagia
chpo_term: 子宫出血
id: HP:0100758
hpo_term: Gangrene
chpo_term: 坏疽
Disease (ORPHA:3392):
Tularemia

Associated phenotypes (HPO):
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
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:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
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:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0025143
hpo_term: Chills
chpo_term: 寒栗
id: HP:0025406
hpo_term: Asthenia
chpo_term: 虚弱
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
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:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
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:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0011355
hpo_term: Localized skin lesion
chpo_term: 局限性皮损
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0025289
hpo_term: Cervical lymphadenopathy
chpo_term: 颈部淋巴结病变
id: HP:0025439
hpo_term: Pharyngitis
chpo_term: 咽炎
id: HP:0030833
hpo_term: Neck pain
chpo_term: 颈痛
id: HP:0031983
hpo_term: Abnormal pulmonary thoracic imaging finding
chpo_term: 肺胸部影像学异常
id: HP:0000388
hpo_term: Otitis media
chpo_term: 中耳炎
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0012219
hpo_term: Erythema nodosum
chpo_term: 结节性红斑
id: HP:0030049
hpo_term: Brain abscess
chpo_term: 脑脓肿
id: HP:0030953
hpo_term: Conjunctival hyperemia
chpo_term: 结膜充血
id: HP:0031292
hpo_term: Cutaneous abscess
chpo_term: 皮肤脓肿
id: HP:0100533
hpo_term: Inflammatory abnormality of the eye
chpo_term: 眼睛的炎性异常
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
id: HP:3000033
hpo_term: Abnormal nasopharyngeal adenoid morphology
chpo_term: 鼻咽部腺样体形态异常
Disease (ORPHA:284339):
PCH7
Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome
Pontocerebellar hypoplasia type 7

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:0000215
hpo_term: Thick upper lip vermilion
chpo_term: 厚上红唇
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002060
hpo_term: Abnormal cerebral morphology
chpo_term: 大脑形态学异常
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0006955
hpo_term: Olivopontocerebellar hypoplasia
chpo_term: 橄榄桥脑小脑发育不全
id: HP:0030197
hpo_term: Fatigable weakness of skeletal muscles
chpo_term: 骨骼肌疲劳性无力
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000133
hpo_term: Gonadal dysgenesis
chpo_term: 性腺发育不全
id: HP:0000151
hpo_term: Aplasia of the uterus
chpo_term: 子宫发育不全
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
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:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0012856
hpo_term: Abnormal scrotal rugation
chpo_term: 阴囊褶皱异常
id: HP:0030260
hpo_term: Microphallus
chpo_term: 阴茎过小
id: HP:0030261
hpo_term: Absent penis
chpo_term: 阴茎缺如
Disease (ORPHA:31202):
Burkholderia pseudomallei infection
Melioidosis

Associated phenotypes (HPO):
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0011947
hpo_term: Respiratory tract infection
chpo_term: 呼吸道感染
id: HP:0011949
hpo_term: Acute infectious pneumonia
chpo_term: 急性感染性肺炎
id: HP:0025044
hpo_term: Lung abscess
chpo_term: 肺脓肿
id: HP:0031273
hpo_term: Shock
chpo_term: 休克
id: HP:0031864
hpo_term: Bacteremia
chpo_term: 菌血症
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0001743
hpo_term: Abnormality of the spleen
chpo_term: 脾脏异常
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0003095
hpo_term: Septic arthritis
chpo_term: 化脓性关节炎
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0025059
hpo_term: Splenic abscess
chpo_term: 脾脏脓肿
id: HP:0030049
hpo_term: Brain abscess
chpo_term: 脑脓肿
id: HP:0031292
hpo_term: Cutaneous abscess
chpo_term: 皮肤脓肿
id: HP:0032162
hpo_term: Unusual skin infection
chpo_term: 非寻常皮肤感染
id: HP:0100523
hpo_term: Liver abscess
chpo_term: 肝脓肿
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0000024
hpo_term: Prostatitis
chpo_term: 前列腺炎
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0000197
hpo_term: Abnormal parotid gland morphology
chpo_term: 腮腺形态异常
id: HP:0001886
hpo_term: Foot osteomyelitis
chpo_term: 足骨骨髓炎
id: HP:0011850
hpo_term: Parotitis
chpo_term: 腮腺炎
Disease (ORPHA:9):
Quadruple X
Tetrasomy X syndrome
Tetra X
48,XXXX syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
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:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
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:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0010978
hpo_term: Abnormality of immune system physiology
chpo_term: 免疫系统功能异常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
Disease (ORPHA:31204):
Nocardiosis

Associated phenotypes (HPO):
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0031245
hpo_term: Productive cough
chpo_term: 痰咳
id: HP:0031864
hpo_term: Bacteremia
chpo_term: 菌血症
id: HP:0032016
hpo_term: Abnormal sputum
chpo_term: 痰液异常
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000620
hpo_term: Dacryocystitis
chpo_term: 泪囊炎
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:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002097
hpo_term: Emphysema
chpo_term: 气肿
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002102
hpo_term: Pleuritis
chpo_term: 胸膜炎
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0002840
hpo_term: Lymphadenitis
chpo_term: 淋巴结炎
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0004372
hpo_term: Reduced consciousness/confusion
chpo_term: 意识减弱/意识错乱
id: HP:0011450
hpo_term: Unusual CNS infection
chpo_term: 不寻常的中枢神经系统感染
id: HP:0025143
hpo_term: Chills
chpo_term: 寒栗
id: HP:0030049
hpo_term: Brain abscess
chpo_term: 脑脓肿
id: HP:0030166
hpo_term: Night sweats
chpo_term: 盗汗
id: HP:0031246
hpo_term: Nonproductive cough
chpo_term: 干咳
id: HP:0031292
hpo_term: Cutaneous abscess
chpo_term: 皮肤脓肿
id: HP:0032169
hpo_term: Severe infection
chpo_term: 重度感染
id: HP:0100523
hpo_term: Liver abscess
chpo_term: 肝脓肿
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000575
hpo_term: Scotoma
chpo_term: 盲点
id: HP:0000834
hpo_term: Abnormality of the adrenal glands
chpo_term: 肾上腺异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001654
hpo_term: Abnormal heart valve morphology
chpo_term: 心脏瓣膜形态异常
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0012424
hpo_term: Chorioretinitis
chpo_term: 脉络膜视网膜炎
id: HP:0045026
hpo_term: Abnormality of the mediastinum
chpo_term: 纵膈异常
id: HP:0100532
hpo_term: Scleritis
chpo_term: 巩膜炎
id: HP:0100584
hpo_term: Endocarditis
chpo_term: 心内膜炎
id: HP:0100646
hpo_term: Thyroiditis
chpo_term: 甲状腺炎
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
Disease (ORPHA:2064):
Faulk-Epstein-Jones syndrome
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

Associated phenotypes (HPO):
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0005626
hpo_term: Posterior fusion of lumbosacral vertebrae
chpo_term: 腰骶椎后部融合
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合