TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:100081):
Neuroendocrine tumor of the rectum
NET of the rectum
Rectal neuroendocrine tumor
Rectal NET

Associated phenotypes (HPO):
id: HP:0100570
hpo_term: Carcinoid tumor
chpo_term: 类癌
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0012702
hpo_term: Tenesmus
chpo_term: 里急后重
id: HP:0025085
hpo_term: Bloody diarrhea
chpo_term: 便血
id: HP:0030144
hpo_term: Hypoactive bowel sounds
chpo_term: 肠鸣音减弱
id: HP:0030446
hpo_term: Atypical pulmonary carcinoid tumor
chpo_term: 非典型肺类癌
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002249
hpo_term: Melena
chpo_term: 黑便
id: HP:0002730
hpo_term: Chronic noninfectious lymphadenopathy
chpo_term: 慢性非感染性淋巴结肿大
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0001708
hpo_term: Right ventricular failure
chpo_term: 右心衰竭
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0003144
hpo_term: Increased serum serotonin
chpo_term: 血清5-羟色胺（血清素）水平升高
id: HP:0004385
hpo_term: Protracted diarrhea
chpo_term: 迁延性腹泻
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0007380
hpo_term: Facial telangiectasia
chpo_term: 面部毛细血管扩张
id: HP:0012701
hpo_term: Bowel urgency
chpo_term: 排便紧迫感
id: HP:4000007
hpo_term: Bronchoconstriction
chpo_term: 支气管收缩
id: HP:0030145
hpo_term: Lack of bowel sounds
chpo_term: 肠鸣音消失
id: HP:0031566
hpo_term: Abnormal pulmonary valve cusp morphology
chpo_term: 肺动脉瓣尖瓣形态异常
Disease (ORPHA:100079):
Appendiceal neuroendocrine neoplasm
Appendiceal NEN
NEN of appendix
Neuroendocrine neoplasm of appendix

Associated phenotypes (HPO):
id: HP:0006723
hpo_term: Intestinal carcinoid
chpo_term: 肠道类癌
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0005249
hpo_term: Functional intestinal obstruction
chpo_term: 功能性肠梗阻
id: HP:0010676
hpo_term: Mechanical ileus
chpo_term: 机械性肠梗阻
id: HP:0011848
hpo_term: Abdominal colic
chpo_term: 腹部绞痛
id: HP:0012701
hpo_term: Bowel urgency
chpo_term: 排便紧迫感
id: HP:0030142
hpo_term: Abnormal bowel sounds
chpo_term: 肠鸣音异常
id: HP:0030144
hpo_term: Hypoactive bowel sounds
chpo_term: 肠鸣音减弱
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002730
hpo_term: Chronic noninfectious lymphadenopathy
chpo_term: 慢性非感染性淋巴结肿大
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003148
hpo_term: Elevated serum acid phosphatase
chpo_term: 血清酸性磷酸酶升高
id: HP:0004385
hpo_term: Protracted diarrhea
chpo_term: 迁延性腹泻
id: HP:0030412
hpo_term: Ileal adenocarcinoma
chpo_term: 回肠腺癌
id: HP:0040276
hpo_term: Adenocarcinoma of the colon
chpo_term: 结肠腺癌
id: HP:0001579
hpo_term: Primary hypercortisolism
chpo_term: 原发性皮质醇增多症
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0003144
hpo_term: Increased serum serotonin
chpo_term: 血清5-羟色胺（血清素）水平升高
id: HP:0005211
hpo_term: Midgut malrotation
chpo_term: 中肠旋转不良
id: HP:0010446
hpo_term: Tricuspid stenosis
chpo_term: 三尖瓣狭窄
id: HP:0011749
hpo_term: Adrenocorticotropic hormone excess
chpo_term: 促肾上腺皮质激素过多
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0031499
hpo_term: Appendiceal mucinous neoplasm
chpo_term: 阑尾的粘液性肿瘤
id: HP:0100615
hpo_term: Ovarian neoplasm
chpo_term: 卵巢肿瘤
Disease (ORPHA:100075):
Gastric NET
GNET
Gastric neuroendocrine tumor
Neuroendocrine tumor of stomach
NET of stomach

Associated phenotypes (HPO):
id: HP:0100570
hpo_term: Carcinoid tumor
chpo_term: 类癌
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001891
hpo_term: Iron deficiency anemia
chpo_term: 缺铁性贫血
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:0002254
hpo_term: Intermittent diarrhea
chpo_term: 间歇性腹泻
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0001005
hpo_term: Dermatological manifestations of systemic disorders
chpo_term: 系统性疾病的皮肤表现
id: HP:0002044
hpo_term: Zollinger-Ellison syndrome
chpo_term: Zollinger-Ellison 综合征
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002248
hpo_term: Hematemesis
chpo_term: 呕血
id: HP:0002249
hpo_term: Melena
chpo_term: 黑便
id: HP:0002730
hpo_term: Chronic noninfectious lymphadenopathy
chpo_term: 慢性非感染性淋巴结肿大
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0025085
hpo_term: Bloody diarrhea
chpo_term: 便血
id: HP:0030145
hpo_term: Lack of bowel sounds
chpo_term: 肠鸣音消失
id: HP:0030446
hpo_term: Atypical pulmonary carcinoid tumor
chpo_term: 非典型肺类癌
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001708
hpo_term: Right ventricular failure
chpo_term: 右心衰竭
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002668
hpo_term: Paraganglioma
chpo_term: 副神经节瘤
id: HP:0003144
hpo_term: Increased serum serotonin
chpo_term: 血清5-羟色胺（血清素）水平升高
id: HP:0003154
hpo_term: Increased circulating ACTH level
chpo_term: 血促肾上腺皮质激素（ACTH）水平升高
id: HP:0004385
hpo_term: Protracted diarrhea
chpo_term: 迁延性腹泻
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0007380
hpo_term: Facial telangiectasia
chpo_term: 面部毛细血管扩张
id: HP:0012701
hpo_term: Bowel urgency
chpo_term: 排便紧迫感
id: HP:4000007
hpo_term: Bronchoconstriction
chpo_term: 支气管收缩
id: HP:0030149
hpo_term: Cardiogenic shock
chpo_term: 心源性休克
id: HP:0031566
hpo_term: Abnormal pulmonary valve cusp morphology
chpo_term: 肺动脉瓣尖瓣形态异常
Disease (ORPHA:1928):
Congenital lobar hyperinflation
Congenital lobar emphysema
Infantile lobar hyperinflation

Associated phenotypes (HPO):
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:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0010978
hpo_term: Abnormality of immune system physiology
chpo_term: 免疫系统功能异常
id: HP:0030828
hpo_term: Wheezing
chpo_term: 哮鸣音
id: HP:6000012
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001555
hpo_term: Asymmetry of the thorax
chpo_term: 胸廓不对称
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100750
hpo_term: Atelectasis
chpo_term: 肺不张
Disease (ORPHA:1927):
Emery-Nelson syndrome
Hand and foot deformity-flat facies syndrome

Associated phenotypes (HPO):
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001172
hpo_term: Abnormal thumb morphology
chpo_term: 拇指形态异常
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006070
hpo_term: Metacarpophalangeal joint contracture
chpo_term: 掌指关节挛缩
id: HP:0009626
hpo_term: Contractures of the interphalangeal joint of the thumb
chpo_term: 拇指指间关节挛缩
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:100078):
Ileal neuroendocrine neoplasm
Ileal neuroendocrine tumor

Associated phenotypes (HPO):
id: HP:0006722
hpo_term: Small intestine carcinoid
chpo_term: 小肠类癌
id: HP:0001005
hpo_term: Dermatological manifestations of systemic disorders
chpo_term: 系统性疾病的皮肤表现
id: HP:0002254
hpo_term: Intermittent diarrhea
chpo_term: 间歇性腹泻
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
id: HP:0003144
hpo_term: Increased serum serotonin
chpo_term: 血清5-羟色胺（血清素）水平升高
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001891
hpo_term: Iron deficiency anemia
chpo_term: 缺铁性贫血
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
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:0003148
hpo_term: Elevated serum acid phosphatase
chpo_term: 血清酸性磷酸酶升高
id: HP:0004796
hpo_term: Gastrointestinal obstruction
chpo_term: 胃肠道梗阻
id: HP:0005249
hpo_term: Functional intestinal obstruction
chpo_term: 功能性肠梗阻
id: HP:0012334
hpo_term: Extrahepatic cholestasis
chpo_term: 肝外胆汁淤积
id: HP:0012432
hpo_term: Chronic fatigue
chpo_term: 慢性疲劳
id: HP:0025324
hpo_term: Arterial occlusion
chpo_term: 动脉闭塞
id: HP:0030142
hpo_term: Abnormal bowel sounds
chpo_term: 肠鸣音异常
id: HP:0100819
hpo_term: Intestinal fistula
chpo_term: 肠瘘
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001708
hpo_term: Right ventricular failure
chpo_term: 右心衰竭
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002044
hpo_term: Zollinger-Ellison syndrome
chpo_term: Zollinger-Ellison 综合征
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0010446
hpo_term: Tricuspid stenosis
chpo_term: 三尖瓣狭窄
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0025426
hpo_term: Abnormal bronchus morphology
chpo_term: 支气管形态异常
id: HP:0030149
hpo_term: Cardiogenic shock
chpo_term: 心源性休克
Disease (ORPHA:157846):
Adult basal ganglia disease
Neuroferritinopathy
Ferritin-related neurodegeneration
Hereditary ferritinopathy

Associated phenotypes (HPO):
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002134
hpo_term: Abnormal basal ganglia morphology
chpo_term: 基底节形态异常
id: HP:0012343
hpo_term: Decreased circulating ferritin concentration
chpo_term: 血清铁蛋白降低
id: HP:0012675
hpo_term: Iron accumulation in brain
chpo_term: 脑内铁累积
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002310
hpo_term: Orofacial dyskinesia
chpo_term: 口面运动障碍
id: HP:0002339
hpo_term: Abnormal caudate nucleus morphology
chpo_term: 尾状核形态异常
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002454
hpo_term: Eye of the tiger anomaly of globus pallidus
chpo_term: 苍白球虎眼征
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0004373
hpo_term: Focal dystonia
chpo_term: 局限性肌张力障碍
id: HP:0012678
hpo_term: Iron accumulation in substantia nigra
chpo_term: 黑质铁累积
id: HP:0012690
hpo_term: T2 hypointense thalamus
chpo_term: 丘脑T2序列低信号
id: HP:0012696
hpo_term: Abnormal thalamic MRI signal intensity
chpo_term: 丘脑核磁共振信号强度异常
id: HP:0031959
hpo_term: Leg dystonia
chpo_term: 腿肌张力障碍
id: HP:0031982
hpo_term: Abnormal putamen morphology
chpo_term: 壳核形态异常
id: HP:0100321
hpo_term: Abnormal dentate nucleus morphology
chpo_term: 齿状核形态异常
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001621
hpo_term: Weak voice
chpo_term: 嗓音微弱
id: HP:0001686
hpo_term: Loss of voice
chpo_term: 失声
id: HP:0002340
hpo_term: Caudate atrophy
chpo_term: 尾状核萎缩
id: HP:0002356
hpo_term: Writer's cramp
chpo_term: 书写痉挛
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0007350
hpo_term: Hyperreflexia in upper limbs
chpo_term: 上肢反射亢进
id: HP:0007772
hpo_term: Impaired smooth pursuit
chpo_term: 平滑追视障碍
id: HP:0010530
hpo_term: Palatal tremor
chpo_term: 腭肌阵挛
id: HP:0031960
hpo_term: Arm dystonia
chpo_term: 臂肌张力障碍
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000727
hpo_term: Frontal lobe dementia
chpo_term: 额叶痴呆
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007123
hpo_term: Subcortical dementia
chpo_term: 皮质下痴呆
id: HP:0025331
hpo_term: Upgaze palsy
chpo_term: 向上凝视麻痹
Disease (ORPHA:231445):
Paraparetic variant of GBS
Paraparetic variant of Guillain-Barré syndrome

Associated phenotypes (HPO):
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002385
hpo_term: Paraparesis
chpo_term: 下肢轻瘫
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0006858
hpo_term: Impaired distal proprioception
chpo_term: 远端本体感觉障碍
id: HP:0011868
hpo_term: Sciatica
chpo_term: 坐骨神经痛
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0025459
hpo_term: Increased CSF/serum albumin ratio
chpo_term: 脑脊液白蛋白与血清白蛋白的比值增加
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0011948
hpo_term: Recurrent acute respiratory tract infection
chpo_term: 复发性急性呼吸道感染
id: HP:0002839
hpo_term: Urinary bladder sphincter dysfunction
chpo_term: 膀胱括约肌功能障碍
Disease (ORPHA:439224):
ALECT2 amyloidosis
Leukocyte chemotactic factor-2 amyloidosis

Associated phenotypes (HPO):
id: HP:0001917
hpo_term: Renal amyloidosis
chpo_term: 肾淀粉样病变
id: HP:0012280
hpo_term: Hepatic amyloidosis
chpo_term: 肝淀粉样变性
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0033247
hpo_term: Pulmonary amyloidosis
chpo_term: 肺淀粉样变
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0012145
hpo_term: Abnormality of multiple cell lineages in the bone marrow
chpo_term: 骨髓中多系细胞异常
id: HP:0002907
hpo_term: Microscopic hematuria
chpo_term: 镜下血尿症
Disease (ORPHA:453521):
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
Spinocerebellar ataxia autosomal recessive type 17
SCAR17

Associated phenotypes (HPO):
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002470
hpo_term: Nonprogressive cerebellar ataxia
chpo_term: 非进行性小脑性共济失调
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0009617
hpo_term: Abnormality of the distal phalanx of the thumb
chpo_term: 拇指末节指骨异常
id: HP:0031435
hpo_term: Monotonic speech
chpo_term: 单音调言语
id: HP:0040196
hpo_term: Mild microcephaly
chpo_term: 轻度小头畸形
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
Disease (ORPHA:251038):
Trisomy 3q29
3q29 microduplication syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000526
hpo_term: Aniridia
chpo_term: 无虹膜
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000647
hpo_term: Sclerocornea
chpo_term: 角膜巩膜化
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: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:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001836
hpo_term: Camptodactyly of toe
chpo_term: 脚趾屈曲畸形
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0004397
hpo_term: Ectopic anus
chpo_term: 肛门异位
id: HP:0004422
hpo_term: Biparietal narrowing
chpo_term: 双侧顶骨部收窄
Disease (ORPHA:1937):
Short stature-locking fingers syndrome
Eng-Strom syndrome

Associated phenotypes (HPO):
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
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:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:57782):
Mazabraud syndrome
Myxoma with fibrous dysplasia

Associated phenotypes (HPO):
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0010734
hpo_term: Fibrous dysplasia of the bones
chpo_term: 骨纤维发育不良
Disease (ORPHA:100073):
Neurogenic costoclavicular syndrome
Neurogenic thoracic outlet syndrome
Neurogenic cervical rib syndrome
NTOS
Neurogenic thoracic outlet compression syndrome
Neurogenic TOS

Associated phenotypes (HPO):
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0012534
hpo_term: Dysesthesia
chpo_term: 感觉障碍
Disease (ORPHA:1933):
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Booth-Haworth-Dilling syndrome
Mitochondrial encephalomyopathy-aminoacidopathy syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
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:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0006887
hpo_term: Intellectual disability, progressive
chpo_term: 进行性智力障碍
id: HP:0012120
hpo_term: Methylmalonic aciduria
chpo_term: 甲基丙二酸尿症
Disease (ORPHA:1931):
Anterior encephalocele
Frontal encephalocele

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001362
hpo_term: Calvarial skull defect
chpo_term: 颅骨缺损
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
Disease (ORPHA:100070):
Progressive non-fluent aphasia
Non-fluent variant PPA
Agramatic variant of primary progressive aphasia
Agramatic variant of PPA

Associated phenotypes (HPO):
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0002145
hpo_term: Frontotemporal dementia
chpo_term: 额颞叶痴呆
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0006892
hpo_term: Frontotemporal cerebral atrophy
chpo_term: 额颞叶萎缩
id: HP:0006977
hpo_term: Grammar-specific speech disorder
chpo_term: 语法性语言障碍
id: HP:0007112
hpo_term: Temporal cortical atrophy
chpo_term: 颞叶皮质萎缩
id: HP:0030391
hpo_term: Spoken word recognition deficit
chpo_term: 口语词汇识别能力降低
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0010523
hpo_term: Alexia
chpo_term: 失读症
id: HP:0011204
hpo_term: EEG with continuous slow activity
chpo_term: 脑电图持续慢活动
id: HP:0012658
hpo_term: Abnormal brain FDG positron emission tomography
chpo_term: 脑FDG正电子发射断层扫描异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000711
hpo_term: Restlessness
chpo_term: 坐立不安
id: HP:0000751
hpo_term: Personality changes
chpo_term: 性格改变
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002366
hpo_term: Abnormal lower motor neuron morphology
chpo_term: 下运动神经元形态异常
id: HP:0002427
hpo_term: Expressive aphasia
chpo_term: 运动性失语
id: HP:0002446
hpo_term: Astrocytosis
chpo_term: 星形胶质细胞增殖
id: HP:0010526
hpo_term: Dysgraphia
chpo_term: 书写困难
id: HP:0030223
hpo_term: Perseveration
chpo_term: 持续症现象
id: HP:0100256
hpo_term: Senile plaques
chpo_term: 老年斑
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0002185
hpo_term: Neurofibrillary tangles
chpo_term: 神经原纤维缠结
id: HP:0030692
hpo_term: Brain neoplasm
chpo_term: 脑肿瘤
id: HP:0100315
hpo_term: Lewy bodies
chpo_term: 路易体