TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:368):
Glycogen storage disease type 5
GSD type V
Glycogenosis type V
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
McArdle disease
Glycogenosis due to muscle glycogen phosphorylase deficiency
GSD due to muscle glycogen phosphorylase deficiency
Glycogen storage disease type V
GSD type 5
Myophosphorylase deficiency
Glycogenosis type 5

Associated phenotypes (HPO):
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0009051
hpo_term: Increased muscle glycogen content
chpo_term: 肌糖原含量增加
id: HP:0030231
hpo_term: Glycogen accumulation in muscle fiber lysosomes
chpo_term: 肌肉纤维溶酶体糖原蓄积
id: HP:0030234
hpo_term: Highly elevated creatine kinase
chpo_term: 肌酸磷酸激酶明显上升
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:0003652
hpo_term: Recurrent myoglobinuria
chpo_term: 复发性肌红蛋白尿
id: HP:0003710
hpo_term: Exercise-induced muscle cramps
chpo_term: 运动引起的肌肉痉挛
id: HP:0008305
hpo_term: Exercise-induced myoglobinuria
chpo_term: 运动后肌红蛋白尿
id: HP:0040319
hpo_term: Dark urine
chpo_term: 深色尿液
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003738
hpo_term: Exercise-induced myalgia
chpo_term: 运动诱发的肌肉痛
id: HP:0008967
hpo_term: Exercise-induced muscle stiffness
chpo_term: 运动诱发的肌肉僵硬
id: HP:0009073
hpo_term: Progressive proximal muscle weakness
chpo_term: 进行性近端肌无力
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0030973
hpo_term: Postexertional symptom exacerbation
chpo_term: 活动后症状加重
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0005216
hpo_term: Impaired mastication
chpo_term: 咀嚼功能受损
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
Disease (ORPHA:79445):
AHO-PPHP syndrome
Pseudopseudohypoparathyroidism
Albright hereditary osteodystrophy-PPHP syndrome

Associated phenotypes (HPO):
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
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
id: HP:0010044
hpo_term: Short 4th metacarpal
chpo_term: 第四掌骨短
id: HP:0010047
hpo_term: Short 5th metacarpal
chpo_term: 第五掌骨短小
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0011986
hpo_term: Ectopic ossification
chpo_term: 异位性骨化
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0004180
hpo_term: Short distal phalanx of the 3rd finger
chpo_term: 第三指末节指骨过短
id: HP:0009650
hpo_term: Short distal phalanx of the thumb
chpo_term: 拇指远节指骨缩短
id: HP:0025027
hpo_term: Osteoma cutis
chpo_term: 皮肤骨瘤
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002905
hpo_term: Hyperphosphatemia
chpo_term: 高磷血症
id: HP:0003165
hpo_term: Elevated circulating parathyroid hormone level
chpo_term: 血甲状旁腺激素水平升高
Disease (ORPHA:141152):
Isolated congenital hypoglossia/aglossia

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0011470
hpo_term: Nasogastric tube feeding in infancy
chpo_term: 婴儿期鼻胃管饲
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000171
hpo_term: Microglossia
chpo_term: 小舌畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002781
hpo_term: Upper airway obstruction
chpo_term: 上气道阻塞
id: HP:0006265
hpo_term: Aplasia/Hypoplasia of fingers
chpo_term: 手指发育不良/发育不全
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0005483
hpo_term: Abnormal epiglottis morphology
chpo_term: 会厌形态异常
id: HP:0010566
hpo_term: Hamartoma
chpo_term: 错构瘤
id: HP:0011951
hpo_term: Aspiration pneumonia
chpo_term: 吸入性肺炎
id: HP:0012478
hpo_term: Temporomandibular joint ankylosis
chpo_term: 颞下颌关节强直
Disease (ORPHA:364):
Glycogen storage disease due to glucose-6-phosphatase deficiency
Hepatorenal glycogenosis
G6P deficiency
Glycogen storage disease type 1
GSD due to G6P deficiency
Glycogen storage disease due to G6P deficiency
GSD type 1
Glycogenosis type I
Glycogen storage disease type I
Glycogenosis type 1
GSD type I
Von Gierke disease

Associated phenotypes (HPO):
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000991
hpo_term: Xanthomatosis
chpo_term: 黄瘤病
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:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:367):
Glycogen storage disease type 4
Glycogenosis type IV
Glycogen storage disease type IV
Glycogenosis due to glycogen branching enzyme deficiency
GSD due to glycogen branching enzyme deficiency
Andersen disease
GSD type 4
Glycogen storage disease due to glycogen branching enzyme deficiency
Amylopectinosis
Glycogenosis type 4
GSD type IV

Associated phenotypes (HPO):
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0011354
hpo_term: Generalized abnormality of skin
chpo_term: 泛发性皮肤异常
id: HP:0012269
hpo_term: Abnormal muscle glycogen content
chpo_term: 肌糖原含量异常
id: HP:0031331
hpo_term: Abnormal cardiomyocyte morphology
chpo_term: 心肌细胞形态异常
id: HP:0500032
hpo_term: Abnormal neuron branching
chpo_term: 神经元分枝异常
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
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:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001790
hpo_term: Nonimmune hydrops fetalis
chpo_term: 非免疫性胎儿水肿
id: HP:0001989
hpo_term: Fetal akinesia sequence
chpo_term: 胎儿运动不能序列征
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
Disease (ORPHA:366):
GDE deficiency
Amylo-1,6-glucosidase deficiency
GSD type 3
Limit dextrinosis
Glycogenosis type III
Glycogen storage disease type III
Glycogen storage disease due to glycogen debranching enzyme deficiency
Cori disease
Cori-Forbes disease
GSDIII
Glycogen storage disease type 3
Forbes disease
GSD due to glycogen debranching enzyme deficiency
Glycogenosis type 3
Glycogenosis due to glycogen debranching enzyme deficiency

Associated phenotypes (HPO):
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
Disease (ORPHA:228396):
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome

Associated phenotypes (HPO):
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
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:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0001092
hpo_term: Absent lacrimal punctum
chpo_term: 泪小点缺失
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004422
hpo_term: Biparietal narrowing
chpo_term: 双侧顶骨部收窄
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
Disease (ORPHA:33226):
Waldenström macroglobulinemia

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000573
hpo_term: Retinal hemorrhage
chpo_term: 视网膜出血
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001874
hpo_term: Abnormality of neutrophils
chpo_term: 中性粒细胞异常
id: HP:0001897
hpo_term: Normocytic anemia
chpo_term: 正细胞性贫血
id: HP:0001909
hpo_term: Leukemia
chpo_term: 白血病
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
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:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0004372
hpo_term: Reduced consciousness/confusion
chpo_term: 意识减弱/意识错乱
id: HP:0005508
hpo_term: Monoclonal immunoglobulin M proteinemia
chpo_term: 单克隆IgM血症
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0008046
hpo_term: Abnormal retinal vascular morphology
chpo_term: 视网膜脉管形态异常
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0010841
hpo_term: Multifocal epileptiform discharges
chpo_term: 多灶性痫样放电
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100539
hpo_term: Periorbital edema
chpo_term: 眶周水肿
id: HP:0100724
hpo_term: Hypercoagulability
chpo_term: 高凝状态
id: HP:0100778
hpo_term: Cryoglobulinemia
chpo_term: 冷球蛋白血症
Disease (ORPHA:361):
Familial glucocorticoid deficiency

Associated phenotypes (HPO):
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0004319
hpo_term: Decreased circulating aldosterone level
chpo_term: 醛固酮减少症
id: HP:0025451
hpo_term: Testicular adrenal rest tumor
chpo_term: 睾丸肾上腺残余肿瘤
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
id: HP:0000851
hpo_term: Congenital hypothyroidism
chpo_term: 先天性甲状腺功能减退症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001325
hpo_term: Hypoglycemic coma
chpo_term: 低血糖昏迷
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
id: HP:0100618
hpo_term: Leydig cell neoplasia
chpo_term: 莱迪细胞瘤
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0000846
hpo_term: Adrenal insufficiency
chpo_term: 肾上腺功能不全
id: HP:0008163
hpo_term: Decreased circulating cortisol level
chpo_term: 血皮质醇水平降低
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0007440
hpo_term: Generalized hyperpigmentation
chpo_term: 泛发性色素沉着
id: HP:0011043
hpo_term: Abnormal circulating adrenocorticotropin concentration
chpo_term: 循环促肾上腺皮质激素水平异常
id: HP:0012734
hpo_term: Ketotic hypoglycemia
chpo_term: 酮症性低血糖症
id: HP:0031076
hpo_term: Impaired cortisol response to insulin stimulation test
chpo_term: 皮质醇对胰岛素刺激试验的反应受损
id: HP:0031214
hpo_term: Decreased circulating dehydroepiandrosterone concentration
chpo_term: 循环脱氢表雄酮浓度下降
id: HP:0000127
hpo_term: Renal salt wasting
chpo_term: 肾源性盐流失
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:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0002173
hpo_term: Hypoglycemic seizures
chpo_term: 低血糖发作
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0012432
hpo_term: Chronic fatigue
chpo_term: 慢性疲劳
id: HP:0012605
hpo_term: Hypernatriuria
chpo_term: 高钠尿症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
Disease (ORPHA:360):
Glioblastoma multiforme
GBM
Glioblastoma

Associated phenotypes (HPO):
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012638
hpo_term: Abnormal nervous system physiology
chpo_term: 神经系统生理功能异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0012174
hpo_term: Glioblastoma multiforme
chpo_term: 多形性胶质母细胞瘤
id: HP:0025461
hpo_term: Abnormal cell morphology
chpo_term: 细胞形态异常
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002181
hpo_term: Cerebral edema
chpo_term: 脑水肿
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
Disease (ORPHA:228399):
Dup(8)(q12)
8q12 microduplication syndrome
Trisomy 8q12

Associated phenotypes (HPO):
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
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:0001291
hpo_term: Abnormal cranial nerve morphology
chpo_term: 颅神经形态异常
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0009921
hpo_term: Duane anomaly
chpo_term: Duane 异常
Disease (ORPHA:101046):
Autosomal dominant lateral temporal lobe epilepsy
ADLTE
Epilepsy with auditory features
ADEAF
Partial epilepsy with auditory features
Autosomal dominant epilepsy with auditory features
ADPEAF
Partial epilepsy with auditory aura

Associated phenotypes (HPO):
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0008765
hpo_term: Auditory hallucinations
chpo_term: 幻听
id: HP:0011185
hpo_term: EEG with focal epileptiform discharges
chpo_term: 脑电图局灶性癫痫样放电
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0011182
hpo_term: Interictal epileptiform activity
chpo_term: 发作间期癫痫样放电
id: HP:0002349
hpo_term: Focal aware seizure
chpo_term: 知觉保留的局灶性发作
id: HP:0002367
hpo_term: Visual hallucinations
chpo_term: 幻视
id: HP:0011154
hpo_term: Focal autonomic seizure
chpo_term: 局灶性自主神经癫痫发作
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0031951
hpo_term: Nocturnal seizures
chpo_term: 夜间癫痫发作
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
Disease (ORPHA:228390):
Frontonasal dysplasia with alopecia and genital abnomality
Frontonasal dysplasia type 2
Frontonasal dysplasia-alopecia-genital anomalies syndrome
ALX4-related FNDAG
Craniofrontonasal dysplasia with alopecia and hypogonadism

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000289
hpo_term: Broad philtrum
chpo_term: 宽人中
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
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:0000698
hpo_term: Conical tooth
chpo_term: 锥状齿
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001362
hpo_term: Calvarial skull defect
chpo_term: 颅骨缺损
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002335
hpo_term: Agenesis of cerebellar vermis
chpo_term: 小脑蚓部发育不全
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0004440
hpo_term: Coronal craniosynostosis
chpo_term: 冠状缝早闭
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0011803
hpo_term: Bifid nose
chpo_term: 鼻裂
Disease (ORPHA:178400):
Distal myopathy with anterior tibial onset
Distal anterior compartment myopathy

Associated phenotypes (HPO):
id: HP:0030114
hpo_term: Absent muscle fiber dysferlin
chpo_term: 肌肉纤维铁蛋白缺乏
id: HP:0040081
hpo_term: Abnormal circulating creatine kinase concentration
chpo_term: 血液肌酸激酶水平异常
id: HP:0003738
hpo_term: Exercise-induced myalgia
chpo_term: 运动诱发的肌肉痛
id: HP:0008963
hpo_term: Tibialis muscle weakness
chpo_term: 胫骨肌无力
id: HP:0009073
hpo_term: Progressive proximal muscle weakness
chpo_term: 进行性近端肌无力
id: HP:0003325
hpo_term: Limb-girdle muscle weakness
chpo_term: 肢带肌无力
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0008954
hpo_term: Intrinsic hand muscle atrophy
chpo_term: 手部内在肌萎缩
id: HP:0009005
hpo_term: Weakness of the intrinsic hand muscles
chpo_term: 手内在肌无力
id: HP:0031177
hpo_term: Finger flexor weakness
chpo_term: 指屈肌无力
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0003805
hpo_term: Rimmed vacuoles
chpo_term: 镶边空泡