TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:90363):
Secondary intestinal lymphangiectasia

Associated phenotypes (HPO):
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0031686
hpo_term: Increased stool alpha1-antitrypsin concentration
chpo_term: 大便α1抗胰蛋白酶浓度升高
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0003146
hpo_term: Hypocholesterolemia
chpo_term: 低胆固醇血症
id: HP:0004788
hpo_term: Intestinal lymphedema
chpo_term: 肠淋巴水肿
id: HP:0011741
hpo_term: Secondary hyperaldosteronism
chpo_term: 继发性醛固酮增多症
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002563
hpo_term: Constrictive pericarditis
chpo_term: 缩窄性心包炎
id: HP:0002608
hpo_term: Celiac disease
chpo_term: 乳糜泻
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0011848
hpo_term: Abdominal colic
chpo_term: 腹部绞痛
id: HP:0011900
hpo_term: Hypofibrinogenemia
chpo_term: 低纤维蛋白原血症
id: HP:0012050
hpo_term: Anasarca
chpo_term: 全身水肿
id: HP:0012281
hpo_term: Chylous ascites
chpo_term: 乳糜腹水
id: HP:0012537
hpo_term: Food intolerance
chpo_term: 食物不耐受
id: HP:0031085
hpo_term: Decreased prealbumin level
chpo_term: 前白蛋白水平降低
id: HP:0032064
hpo_term: Gastrointestinal eosinophilia
chpo_term: 胃肠道嗜酸性粒细胞增多症
id: HP:0032136
hpo_term: Decreased circulating IgG1 level
chpo_term: 血液IgG1水平降低
id: HP:0032387
hpo_term: Reduced circulating transferrin concentration
chpo_term: 转铁蛋白水平降低
id: HP:0100324
hpo_term: Scleroderma
chpo_term: 硬皮病
id: HP:0001708
hpo_term: Right ventricular failure
chpo_term: 右心衰竭
id: HP:0001907
hpo_term: Thromboembolism
chpo_term: 血栓栓塞症
id: HP:0002576
hpo_term: Intussusception
chpo_term: 肠套叠
id: HP:0002580
hpo_term: Volvulus
chpo_term: 肠扭转
id: HP:0002584
hpo_term: Intestinal bleeding
chpo_term: 肠道出血
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0005214
hpo_term: Intestinal obstruction
chpo_term: 肠梗阻
id: HP:0012191
hpo_term: B-cell lymphoma
chpo_term: B细胞淋巴瘤
Disease (ORPHA:1964):
Char-Douglas-Dungan syndrome
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006682
hpo_term: Premature ventricular contraction
chpo_term: 室性期前收缩
id: HP:0006689
hpo_term: Bacterial endocarditis
chpo_term: 细菌性心内膜炎
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0012722
hpo_term: Heart block
chpo_term: 心脏传导阻滞
Disease (ORPHA:206484):
Gonadoblastoma

Associated phenotypes (HPO):
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000137
hpo_term: Abnormality of the ovary
chpo_term: 卵巢异常
id: HP:0000149
hpo_term: Ovarian gonadoblastoma
chpo_term: 卵巢性腺母细胞瘤
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0008730
hpo_term: Female external genitalia in individual with 46,XY karyotype
chpo_term: 染色体核型为46,XY的个体具有女性外生殖器
id: HP:0008723
hpo_term: Gonadal dysgenesis with female appearance, male
chpo_term: 男性性腺发育不全，女性外表
id: HP:0008703
hpo_term: Gonadal calcification
chpo_term: 性腺钙化
id: HP:0030088
hpo_term: Increased serum testosterone level
chpo_term: 血清睾酮水平增高
id: HP:0100621
hpo_term: Dysgerminoma
chpo_term: 无性细胞瘤
Disease (ORPHA:1949):
Self-limited neonatal epilepsy
Benign familial neonatal epilepsy
BFNS
Benign familial neonatal convulsions
Benign familial neonatal seizures
SeLNE

Associated phenotypes (HPO):
id: HP:0002266
hpo_term: Focal clonic seizure
chpo_term: 局灶性阵挛性发作
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0011167
hpo_term: Focal tonic seizure
chpo_term: 局灶性强直发作
id: HP:0011188
hpo_term: Focal EEG discharges with secondary generalization
chpo_term: 局灶性脑放电继发泛化
id: HP:0032807
hpo_term: Neonatal seizure
chpo_term: 新生儿癫痫发作
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0010818
hpo_term: Generalized tonic seizure
chpo_term: 全面性强直发作
id: HP:0011154
hpo_term: Focal autonomic seizure
chpo_term: 局灶性自主神经癫痫发作
id: HP:0032556
hpo_term: Circumoral cyanosis
chpo_term: 唇周青紫
id: HP:0045084
hpo_term: Limb myoclonus
chpo_term: 肢体肌阵挛
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0011171
hpo_term: Simple febrile seizure
chpo_term: 单纯型热性惊厥
id: HP:0011468
hpo_term: Facial tics
chpo_term: 面部抽动
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0031535
hpo_term: Increased theta frequency activity in EEG
chpo_term: 脑电图θ节律增多
Disease (ORPHA:1951):
Epilepsy-telangiectasia syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000524
hpo_term: Conjunctival telangiectasia
chpo_term: 结膜毛细血管扩张
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:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0009237
hpo_term: Short 5th finger
chpo_term: 第五指发育不全或不发育
Disease (ORPHA:189427):
Cushing syndrome due to BMAD
CS due to BMACD
Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
Cushing syndrome due to macronodular adrenal hyperplasia
Cushing syndrome due to bilateral macronodular adrenocortical disease
CS due to BMAD
Cushing syndrome due to BMACD

Associated phenotypes (HPO):
id: HP:0008231
hpo_term: Macronodular adrenal hyperplasia
chpo_term: 大结节性肾上腺皮质增生症
id: HP:0002920
hpo_term: Decreased circulating ACTH level
chpo_term: 血促肾上腺皮质激素水平降低
id: HP:0500011
hpo_term: Moon facies
chpo_term: 满月脸
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:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000858
hpo_term: Irregular menstruation
chpo_term: 月经不调
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001050
hpo_term: Plethora
chpo_term: 多血症（红细胞增多症）
id: HP:0001065
hpo_term: Striae distensae
chpo_term: 萎缩纹
id: HP:0001952
hpo_term: Glucose intolerance
chpo_term: 糖耐量异常
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0003118
hpo_term: Increased circulating cortisol level
chpo_term: 血皮质醇水平增加
id: HP:0003466
hpo_term: Paradoxical increased cortisol secretion on dexamethasone suppression test
chpo_term: 地塞米松抑制试验皮质醇分泌反常增加
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0007126
hpo_term: Proximal amyotrophy
chpo_term: 近端肌萎缩
id: HP:0012030
hpo_term: Increased urinary cortisol level
chpo_term: 尿皮质醇水平增高
id: HP:0012743
hpo_term: Abdominal obesity
chpo_term: 腹型肥胖
id: HP:0025383
hpo_term: Dorsocervical fat pad
chpo_term: 颈背部脂肪垫
id: HP:0031077
hpo_term: Abnormal response to corticotropin releasing hormone stimulation test
chpo_term: 促肾上腺皮质激素释放激素刺激试验反应异常
id: HP:0031845
hpo_term: Abnormal libido
chpo_term: 性欲异常
id: HP:0000725
hpo_term: Psychotic episodes
chpo_term: 精神病发作
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0004324
hpo_term: Increased body weight
chpo_term: 体重增加
id: HP:0100754
hpo_term: Mania
chpo_term: 躁狂
id: HP:0000859
hpo_term: Hyperaldosteronism
chpo_term: 醛固酮增多症
id: HP:0002858
hpo_term: Meningioma
chpo_term: 脑膜瘤
id: HP:0002893
hpo_term: Pituitary adenoma
chpo_term: 垂体腺瘤
id: HP:0005584
hpo_term: Renal cell carcinoma
chpo_term: 肾细胞癌
id: HP:0008200
hpo_term: Primary hyperparathyroidism
chpo_term: 原发性甲状旁腺功能亢进症
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100634
hpo_term: Neuroendocrine neoplasm
chpo_term: 神经内分泌肿瘤
Disease (ORPHA:48818):
Aceruloplasminemia
Hereditary ceruloplasmin deficiency

Associated phenotypes (HPO):
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0004840
hpo_term: Hypochromic microcytic anemia
chpo_term: 低色素性小红细胞性贫血
id: HP:0005505
hpo_term: Refractory anemia
chpo_term: 难治性贫血
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0025498
hpo_term: Aceruloplasminemia
chpo_term: 铜蓝蛋白缺乏症
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0010837
hpo_term: Decreased circulating ceruloplasmin concentration
chpo_term: 血清铜蓝蛋白降低
id: HP:0011967
hpo_term: Decreased circulating copper concentration
chpo_term: 低铜血症
id: HP:0012465
hpo_term: Elevated hepatic iron concentration
chpo_term: 肝内铁浓度升高
id: HP:0040303
hpo_term: Decreased serum iron
chpo_term: 血清铁下降
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000273
hpo_term: Facial grimacing
chpo_term: 面部表情痛苦
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002304
hpo_term: Akinesia
chpo_term: 运动不能
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0010994
hpo_term: Abnormal corpus striatum morphology
chpo_term: 纹状体形态异常
id: HP:0012090
hpo_term: Abnormal pancreas morphology
chpo_term: 胰腺形态异常
id: HP:0012179
hpo_term: Craniofacial dystonia
chpo_term: 头面部肌张力障碍
id: HP:0012675
hpo_term: Iron accumulation in brain
chpo_term: 脑内铁累积
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:0100321
hpo_term: Abnormal dentate nucleus morphology
chpo_term: 齿状核形态异常
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
Disease (ORPHA:436182):
Microcephalic primordial dwarfism-insulin resistance syndrome

Associated phenotypes (HPO):
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000831
hpo_term: Insulin-resistant diabetes mellitus
chpo_term: 胰岛素抵抗性糖尿病
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0008193
hpo_term: Primary gonadal insufficiency
chpo_term: 原发性性腺功能不全
id: HP:0008890
hpo_term: Severe short-limb dwarfism
chpo_term: 严重的短肢侏儒症
id: HP:0010620
hpo_term: Malar prominence
chpo_term: 颧骨突出
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0007875
hpo_term: Congenital blindness
chpo_term: 先天性失明
Disease (ORPHA:1959):
Evans syndrome
Autoimmune hemolytic anemia and autoimmune thrombocytopenia
Immune pancytopenia

Associated phenotypes (HPO):
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0001904
hpo_term: Neutropenia in presence of anti-neutropil antibodies
chpo_term: 抗中性粒细胞抗体阳性的中性粒细胞减少症
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
Disease (ORPHA:100093):
Carcinoid syndrome
Malignant carcinoid syndrome

Associated phenotypes (HPO):
id: HP:0100570
hpo_term: Carcinoid tumor
chpo_term: 类癌
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
id: HP:0004385
hpo_term: Protracted diarrhea
chpo_term: 迁延性腹泻
id: HP:0006722
hpo_term: Small intestine carcinoid
chpo_term: 小肠类癌
id: HP:0006723
hpo_term: Intestinal carcinoid
chpo_term: 肠道类癌
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0030166
hpo_term: Night sweats
chpo_term: 盗汗
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:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
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:0003144
hpo_term: Increased serum serotonin
chpo_term: 血清5-羟色胺（血清素）水平升高
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:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:4000007
hpo_term: Bronchoconstriction
chpo_term: 支气管收缩
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0030445
hpo_term: Pulmonary carcinoid tumor
chpo_term: 肺类癌
id: HP:0031138
hpo_term: Abnormal B-type natriuretic peptide level
chpo_term: B型钠尿肽水平异常
id: HP:0031417
hpo_term: Rhinorrhea
chpo_term: 鼻溢液
id: HP:0002605
hpo_term: Hepatic necrosis
chpo_term: 肝坏死
id: HP:0002668
hpo_term: Paraganglioma
chpo_term: 副神经节瘤
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
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
Disease (ORPHA:251056):
Del(6)(q25)
Monosomy 6q25
6q25.2q25.3 microdeletion 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:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
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:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0012639
hpo_term: Abnormal nervous system morphology
chpo_term: 神经系统形态异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
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:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0003241
hpo_term: External genital hypoplasia
chpo_term: 外生殖器发育不良
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:1955):
SCA34
Spinocerebellar ataxia type 34
Spinocerebellar ataxia and erythrokeratodermia
Erythrokeratodermia with ataxia

Associated phenotypes (HPO):
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0003011
hpo_term: Abnormality of the musculature
chpo_term: 肌肉组织异常
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
Disease (ORPHA:1954):
Congenital lethal erythroderma

Associated phenotypes (HPO):
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0007381
hpo_term: Congenital exfoliative erythroderma
chpo_term: 先天性剥脱性红皮病
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
Disease (ORPHA:31150):
Analphalipoproteinemia
Tangier disease
ATP-binding cassette transporter A1 deficiency

Associated phenotypes (HPO):
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0003146
hpo_term: Hypocholesterolemia
chpo_term: 低胆固醇血症
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002730
hpo_term: Chronic noninfectious lymphadenopathy
chpo_term: 慢性非感染性淋巴结肿大
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0004943
hpo_term: Accelerated atherosclerosis
chpo_term: 加速性动脉粥样硬化
id: HP:0005145
hpo_term: Coronary artery stenosis
chpo_term: 冠状动脉狭窄
id: HP:0007133
hpo_term: Progressive peripheral neuropathy
chpo_term: 进行性周围神经病
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0030814
hpo_term: Orange discolored tonsils
chpo_term: 扁桃体橘色变色
id: HP:0001349
hpo_term: Facial diplegia
chpo_term: 双侧面瘫
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
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:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0010829
hpo_term: Impaired temperature sensation
chpo_term: 温度觉障碍
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0100546
hpo_term: Carotid artery stenosis
chpo_term: 颈动脉狭窄
Disease (ORPHA:90354):
Ehlers-Danlos syndrome type 6B
Brittle cornea 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:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000559
hpo_term: Corneal scarring
chpo_term: 角膜瘢痕
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0000977
hpo_term: Soft skin
chpo_term: 皮肤柔软
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001119
hpo_term: Keratoglobus
chpo_term: 球形角膜
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0009887
hpo_term: Abnormality of hair pigmentation
chpo_term: 毛发着色异常
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0100689
hpo_term: Decreased corneal thickness
chpo_term: 角膜厚度降低
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
id: HP:0200020
hpo_term: Corneal erosion
chpo_term: 角膜糜烂
Disease (ORPHA:1952):
Pacman dysplasia
Epiphyseal stippling-osteoclastic hyperplasia syndrome

Associated phenotypes (HPO):
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002683
hpo_term: Abnormal calvaria morphology
chpo_term: 颅骨形态异常
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0003417
hpo_term: Coronal cleft vertebrae
chpo_term: 冠状位脊柱裂
id: HP:0005716
hpo_term: Lethal skeletal dysplasia
chpo_term: 致死性骨骼发育不良
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0010655
hpo_term: Epiphyseal stippling
chpo_term: 骨骺点状钙化
id: HP:0011849
hpo_term: Abnormal bone ossification
chpo_term: 骨化异常
id: HP:0100670
hpo_term: Coarse metaphyseal trabecularization
chpo_term: 干骺端小梁增粗