TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:1948):
Epilepsy-microcephaly-skeletal dysplasia syndrome
Battaglia-Neri syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
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:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
Disease (ORPHA:251046):
Del(6)(p22)
Monosomy 6p22
6p22 microdeletion syndrome

Associated phenotypes (HPO):
id: HP:0000078
hpo_term: Abnormality of the genital system
chpo_term: 生殖系统异常
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
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:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0012639
hpo_term: Abnormal nervous system morphology
chpo_term: 神经系统形态异常
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
Disease (ORPHA:100082):
Neuroendocrine tumor of anal canal
NET of anal canal

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:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
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: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:0001708
hpo_term: Right ventricular failure
chpo_term: 右心衰竭
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002249
hpo_term: Melena
chpo_term: 黑便
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:100083):
Laryngeal neuroendocrine tumor

Associated phenotypes (HPO):
id: HP:0100605
hpo_term: Neoplasm of the larynx
chpo_term: 喉部肿瘤
id: HP:0100634
hpo_term: Neuroendocrine neoplasm
chpo_term: 神经内分泌肿瘤
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002730
hpo_term: Chronic noninfectious lymphadenopathy
chpo_term: 慢性非感染性淋巴结肿大
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
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:0003528
hpo_term: Elevated calcitonin
chpo_term: 降钙素升高
id: HP:0012432
hpo_term: Chronic fatigue
chpo_term: 慢性疲劳
id: HP:0200136
hpo_term: Oral-pharyngeal dysphagia
chpo_term: 口咽部吞咽困难
id: HP:0011749
hpo_term: Adrenocorticotropic hormone excess
chpo_term: 促肾上腺皮质激素过多
id: HP:0031029
hpo_term: Elevated carcinoembryonic antigen level
chpo_term: 癌胚抗原水平增高
id: HP:0031218
hpo_term: Inappropriate antidiuretic hormone secretion
chpo_term: 抗利尿激素分泌失衡
Disease (ORPHA:1947):
NCL, Northern epilepsy variant
Neuronal ceroid lipofuscinosis, Northern epilepsy variant
CLN8 disease, Northern epilepsy variant
Progressive epilepsy-intellectual disability syndrome, Finnish type
Northern epilepsy

Associated phenotypes (HPO):
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0012690
hpo_term: T2 hypointense thalamus
chpo_term: 丘脑T2序列低信号
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
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:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0003204
hpo_term: Intracellular accumulation of autofluorescent lipopigment storage material
chpo_term: 自体荧光脂色素存储物质的胞内堆积
id: HP:0003657
hpo_term: Granular osmiophilic deposits (GROD) in cells
chpo_term: 胞内嗜锇颗粒沉积
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000550
hpo_term: Undetectable electroretinogram
chpo_term: 视网膜电流图熄灭型
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
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:0002333
hpo_term: Motor deterioration
chpo_term: 运动功能减退
id: HP:0002371
hpo_term: Loss of speech
chpo_term: 言语不能
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0003205
hpo_term: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
chpo_term: 自体荧光脂色素存储物质的胞内曲线堆积
id: HP:0003208
hpo_term: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
chpo_term: 自体荧光脂色素存储物质的细胞内堆积指纹谱
id: HP:0003698
hpo_term: Difficulty standing
chpo_term: 站立困难
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0011198
hpo_term: EEG with generalized epileptiform discharges
chpo_term: 脑电图，伴广泛性癫痫样放电
id: HP:0011203
hpo_term: EEG with abnormally slow frequencies
chpo_term: 伴异常缓慢频率的脑电图
id: HP:0030455
hpo_term: Abnormality of pattern visual evoked potentials
chpo_term: 图形视觉诱发电位异常
id: HP:0033044
hpo_term: Motor regression
chpo_term: 运动倒退
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
Disease (ORPHA:1946):
Kohlschütter-Tönz syndrome
Amelocerebrohypohidrotic syndrome
Epilepsy-dementia-amelogenesis imperfecta syndrome

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006286
hpo_term: Yellow-brown discoloration of the teeth
chpo_term: 棕黄色牙
id: HP:0011073
hpo_term: Abnormality of dental color
chpo_term: 牙齿颜色异常
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000705
hpo_term: Amelogenesis imperfecta
chpo_term: 牙釉质生长不全
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (ORPHA:100084):
Middle ear neuroendocrine tumor

Associated phenotypes (HPO):
id: HP:0100570
hpo_term: Carcinoid tumor
chpo_term: 类癌
id: HP:0100634
hpo_term: Neuroendocrine neoplasm
chpo_term: 神经内分泌肿瘤
id: HP:0040119
hpo_term: Unilateral conductive hearing impairment
chpo_term: 单侧传导性听力障碍
id: HP:0040090
hpo_term: Abnormality of the tympanic membrane
chpo_term: 鼓膜异常
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000372
hpo_term: Abnormality of the auditory canal
chpo_term: 耳道异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0002730
hpo_term: Chronic noninfectious lymphadenopathy
chpo_term: 慢性非感染性淋巴结肿大
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
Disease (ORPHA:90340):
Blau syndrome

Associated phenotypes (HPO):
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001094
hpo_term: Iridocyclitis
chpo_term: 虹膜睫状体炎
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0005764
hpo_term: Polyarticular arthritis
chpo_term: 多发性关节炎
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012123
hpo_term: Posterior uveitis
chpo_term: 后葡萄膜炎
id: HP:0012647
hpo_term: Abnormal inflammatory response
chpo_term: 异常炎性反应
id: HP:0100769
hpo_term: Synovitis
chpo_term: 滑膜炎
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0012219
hpo_term: Erythema nodosum
chpo_term: 结节性红斑
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000587
hpo_term: Abnormality of the optic nerve
chpo_term: 视神经异常
id: HP:0000610
hpo_term: Abnormal choroid morphology
chpo_term: 脉络膜形态异常
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001291
hpo_term: Abnormal cranial nerve morphology
chpo_term: 颅神经形态异常
id: HP:0001392
hpo_term: Abnormality of the liver
chpo_term: 肝脏异常
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
id: HP:0005310
hpo_term: Large vessel vasculitis
chpo_term: 大血管炎
id: HP:0006770
hpo_term: Clear cell renal cell carcinoma
chpo_term: 肾透明细胞癌
id: HP:0008046
hpo_term: Abnormal retinal vascular morphology
chpo_term: 视网膜脉管形态异常
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0010286
hpo_term: Abnormal salivary gland morphology
chpo_term: 唾液腺形态异常
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0100654
hpo_term: Retrobulbar optic neuritis
chpo_term: 球后视神经炎
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:100085):
Primary hepatic neuroendocrine carcinoma

Associated phenotypes (HPO):
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001046
hpo_term: Intermittent jaundice
chpo_term: 间歇性黄疸
id: HP:0004375
hpo_term: Neoplasm of the nervous system
chpo_term: 神经系统的肿瘤
id: HP:0005230
hpo_term: Biliary tract obstruction
chpo_term: 胆道梗阻
id: HP:0002896
hpo_term: Neoplasm of the liver
chpo_term: 肝脏肿瘤
id: HP:0100634
hpo_term: Neuroendocrine neoplasm
chpo_term: 神经内分泌肿瘤
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
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:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
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:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0012432
hpo_term: Chronic fatigue
chpo_term: 慢性疲劳
id: HP:0001407
hpo_term: Hepatic cysts
chpo_term: 肝囊肿
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:0002480
hpo_term: Hepatic encephalopathy
chpo_term: 肝性脑病
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:0007380
hpo_term: Facial telangiectasia
chpo_term: 面部毛细血管扩张
id: HP:4000007
hpo_term: Bronchoconstriction
chpo_term: 支气管收缩
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0030166
hpo_term: Night sweats
chpo_term: 盗汗
id: HP:0100570
hpo_term: Carcinoid tumor
chpo_term: 类癌
id: HP:0006575
hpo_term: Intrahepatic cholestasis with episodic jaundice
chpo_term: 肝内胆汁淤积伴发作性黄疸
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0010638
hpo_term: Elevated alkaline phosphatase of hepatic origin
chpo_term: 肝源性碱性磷酸酶升高
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:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0100012
hpo_term: Neoplasm of the eye
chpo_term: 眼肿瘤
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
id: HP:0006254
hpo_term: Elevated alpha-fetoprotein
chpo_term: α-甲胎蛋白升高
id: HP:0031029
hpo_term: Elevated carcinoembryonic antigen level
chpo_term: 癌胚抗原水平增高
Disease (ORPHA:1945):
BECTS
Rolandic epilepsy
Self-limited epilepsy with centrotemporal spikes
SeLECTS
Benign rolandic epilepsy
BECRS
Benign epilepsy of childhood with centrotemporal spikes
Centrotemporal epilepsy
Benign familial epilepsy of childhood with rolandic spikes
BRE

Associated phenotypes (HPO):
id: HP:0012557
hpo_term: EEG with centrotemporal focal spike waves
chpo_term: 脑电图伴中央颞区棘波
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0007332
hpo_term: Focal hemifacial clonic seizure
chpo_term: 局灶性单侧面部阵挛发作
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0009088
hpo_term: Speech articulation difficulties
chpo_term: 言语表达困难
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0025425
hpo_term: Laryngospasm
chpo_term: 喉痉挛
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0006889
hpo_term: Intellectual disability, borderline
chpo_term: 边缘状态智力障碍
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0012534
hpo_term: Dysesthesia
chpo_term: 感觉障碍
id: HP:0001326
hpo_term: EEG with irregular generalized spike and wave complexes
chpo_term: 脑电图，不规则的全面性棘慢复合波
id: HP:0007270
hpo_term: Atypical absence seizure
chpo_term: 非典型失神发作
Disease (ORPHA:90342):
Xeroderma pigmentosum variant
XPV

Associated phenotypes (HPO):
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001029
hpo_term: Poikiloderma
chpo_term: 皮肤异色症
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0002861
hpo_term: Melanoma
chpo_term: 黑色素瘤
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0007603
hpo_term: Freckles in sun-exposed areas
chpo_term: 曝光部位雀斑
Disease (ORPHA:100080):
Colonic NET
Neuroendocrine tumor of the colon
NET of the colon
Neuroendocrine neoplasm of the colon

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:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
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: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:0001708
hpo_term: Right ventricular failure
chpo_term: 右心衰竭
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002249
hpo_term: Melena
chpo_term: 黑便
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
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:1942):
EMAS
Doose syndrome
Epilepsy with myoclonic-atonic seizures
Myoclonic-astatic epilepsy in early childhood
Epilepsy with myoclonic-astatic seizures
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy
MAE

Associated phenotypes (HPO):
id: HP:0011170
hpo_term: Generalized myoclonic-atonic seizure
chpo_term: 全面性肌阵挛-失张力发作
id: HP:0011197
hpo_term: EEG with focal spike waves
chpo_term: 脑电图，局灶性棘慢波
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002332
hpo_term: Lack of peer relationships
chpo_term: 同伴关系缺乏
id: HP:0002392
hpo_term: EEG with polyspike wave complexes
chpo_term: 脑电图，伴多棘慢复合波
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0025190
hpo_term: Bilateral tonic-clonic seizure with generalized onset
chpo_term: 双侧强直- 阵挛发作
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001326
hpo_term: EEG with irregular generalized spike and wave complexes
chpo_term: 脑电图，不规则的全面性棘慢复合波
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0010845
hpo_term: EEG with generalized slow activity
chpo_term: 脑电图，广泛性慢活动
id: HP:0011171
hpo_term: Simple febrile seizure
chpo_term: 单纯型热性惊厥
id: HP:0011182
hpo_term: Interictal epileptiform activity
chpo_term: 发作间期癫痫样放电
id: HP:0100851
hpo_term: Abnormal emotion/affect behavior
chpo_term: 异常情绪/情感行为
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
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:0000289
hpo_term: Broad philtrum
chpo_term: 宽人中
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:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
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:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002292
hpo_term: Frontal balding
chpo_term: 前额秃发
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0009928
hpo_term: Thick nasal alae
chpo_term: 鼻翼增厚
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0100678
hpo_term: Premature skin wrinkling
chpo_term: 皮肤过早起皱
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
Disease (ORPHA:1941):
JAE
Juvenile absence epilepsy

Associated phenotypes (HPO):
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0100851
hpo_term: Abnormal emotion/affect behavior
chpo_term: 异常情绪/情感行为
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0002392
hpo_term: EEG with polyspike wave complexes
chpo_term: 脑电图，伴多棘慢复合波
id: HP:0000153
hpo_term: Abnormality of the mouth
chpo_term: 嘴部异常
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍