TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:79395):
Keratoderma hereditarium mutilans with ichthyosis
Loricrin keratoderma
Vohwinkel syndrome with ichthyosis
Camisa disease
Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome

Associated phenotypes (HPO):
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0007503
hpo_term: Generalized ichthyosis
chpo_term: 泛发性鱼鳞病
id: HP:0010491
hpo_term: Digital constriction ring
chpo_term: 指趾缩窄环
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0007465
hpo_term: Honeycomb palmoplantar hyperkeratosis
chpo_term: 蜂窝状掌跖角化
id: HP:0007479
hpo_term: Congenital nonbullous ichthyosiform erythroderma
chpo_term: 鱼鳞病样红皮病(大疱型)、大疱性鱼鳞病样角化过度症、显性遗传性先天性鱼鳞病、表皮松解性角化过度鱼鳞病
id: HP:0025114
hpo_term: Hypergranulosis
chpo_term: 颗粒层增厚
id: HP:0025525
hpo_term: Scaling skin on fingertip
chpo_term: 指尖鱼鳞样皮损
id: HP:0032541
hpo_term: Knuckle pad
chpo_term: 手指关节垫
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001805
hpo_term: Onychogryposis
chpo_term: 厚甲
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0040162
hpo_term: Orthokeratosis
chpo_term: 正角化
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
Disease (ORPHA:79396):
Epidermolysis bullosa simplex, Dowling-Meara type
Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Autosomal dominant generalized EBS, severe form
Epidermolysis bullosa simplex herpetiformis

Associated phenotypes (HPO):
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011354
hpo_term: Generalized abnormality of skin
chpo_term: 泛发性皮肤异常
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0001057
hpo_term: Aplasia cutis congenita
chpo_term: 先天性表皮发育不全
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0007589
hpo_term: Aplasia cutis congenita on trunk or limbs
chpo_term: 先天性躯干或四肢表皮发育不全
id: HP:0007599
hpo_term: Generalized reticulate brown pigmentation
chpo_term: 泛发性网状棕色色素沉着
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
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:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001600
hpo_term: Abnormality of the larynx
chpo_term: 喉部异常
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0001805
hpo_term: Onychogryposis
chpo_term: 厚甲
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002780
hpo_term: Bronchomalacia
chpo_term: 支气管软化
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:0005483
hpo_term: Abnormal epiglottis morphology
chpo_term: 会厌形态异常
id: HP:0006934
hpo_term: Congenital nystagmus
chpo_term: 先天性眼球震颤
id: HP:0007483
hpo_term: Depigmentation/hyperpigmentation of skin
chpo_term: 皮肤色素脱失/色素沉着
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0010298
hpo_term: Smooth tongue
chpo_term: 光舌
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0006739
hpo_term: Squamous cell carcinoma of the skin
chpo_term: 皮肤鳞状上皮细胞癌
Disease (ORPHA:79397):
EBS with mottled pigmentation
EBS-MP
Epidermolysis bullosa simplex with mottled pigmentation

Associated phenotypes (HPO):
id: HP:0001070
hpo_term: Mottled pigmentation
chpo_term: 斑驳病
id: HP:0003341
hpo_term: Lamina lucida cleavage
chpo_term: 透明层裂隙
id: HP:0007427
hpo_term: Reticulated skin pigmentation
chpo_term: 网状色素沉着
id: HP:0007585
hpo_term: Skin fragility with non-scarring blistering
chpo_term: 非疤痕发疱性脆性皮肤
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0009123
hpo_term: Mixed hypo- and hyperpigmentation of the skin
chpo_term: 皮肤色素减退和色素沉着共存
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0005590
hpo_term: Spotty hypopigmentation
chpo_term: 点滴状色素减退
id: HP:0007556
hpo_term: Plantar hyperkeratosis
chpo_term: 跖部角化过度
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0009719
hpo_term: Hypomelanotic macule
chpo_term: 色素脱失斑
id: HP:0010765
hpo_term: Palmar hyperkeratosis
chpo_term: 掌部角化过度
id: HP:0045059
hpo_term: Hyperkeratotic papule
chpo_term: 角化过度性丘疹
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
Disease (ORPHA:1416):
Hereditary articular chondrocalcinosis
Hereditary CC
Familial calcium pyrophosphate deposition
Familial articular chondrocalcinosis
Familial CC
Hereditary calcium pyrophosphate deposition
Calcium pyrophosphate dihydrate crystal deposition disease
Familial CPPD

Associated phenotypes (HPO):
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
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:0005108
hpo_term: Abnormal intervertebral disk morphology
chpo_term: 椎间盘形态异常
id: HP:0100593
hpo_term: Calcification of cartilage
chpo_term: 软骨钙化
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0000934
hpo_term: Chondrocalcinosis
chpo_term: 软骨钙质沉着症
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0012649
hpo_term: Increased inflammatory response
chpo_term: 炎症反应增强
id: HP:0031013
hpo_term: Ankylosis
chpo_term: 关节僵硬
id: HP:0045082
hpo_term: Decreased body mass index
chpo_term: 体重指数下降
id: HP:0100769
hpo_term: Synovitis
chpo_term: 滑膜炎
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
Disease (ORPHA:324290):
PRDM8-related progressive myoclonus epilepsy
Early-onset Lafora body disease

Associated phenotypes (HPO):
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0100318
hpo_term: Lafora bodies
chpo_term: 小体
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
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:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0011999
hpo_term: Paranoia
chpo_term: 偏执狂
Disease (ORPHA:79399):
Epidermolysis bullosa simplex, Köbner type
Autosomal dominant generalized EBS, intermediate form
Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
Epidermolysis bullosa simplex, Koebner type

Associated phenotypes (HPO):
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0003341
hpo_term: Lamina lucida cleavage
chpo_term: 透明层裂隙
id: HP:0007585
hpo_term: Skin fragility with non-scarring blistering
chpo_term: 非疤痕发疱性脆性皮肤
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0005585
hpo_term: Spotty hyperpigmentation
chpo_term: 点滴状色素沉着
id: HP:0005590
hpo_term: Spotty hypopigmentation
chpo_term: 点滴状色素减退
id: HP:0007556
hpo_term: Plantar hyperkeratosis
chpo_term: 跖部角化过度
id: HP:0010765
hpo_term: Palmar hyperkeratosis
chpo_term: 掌部角化过度
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0009123
hpo_term: Mixed hypo- and hyperpigmentation of the skin
chpo_term: 皮肤色素减退和色素沉着共存
id: HP:0009719
hpo_term: Hypomelanotic macule
chpo_term: 色素脱失斑
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
Disease (ORPHA:2741):
Pillay syndrome
Ophthalmomandibulomelic dysplasia
OMM syndrome

Associated phenotypes (HPO):
id: HP:0000485
hpo_term: Megalocornea
chpo_term: 巨角膜
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0004348
hpo_term: Abnormality of bone mineral density
chpo_term: 骨密度异常
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0005446
hpo_term: Obtuse angle of mandible
chpo_term: 下颌钝角
id: HP:0006055
hpo_term: Ulnar deviated club hands
chpo_term: 向尺骨偏离的曲棍球棒样手
id: HP:0006439
hpo_term: Radioulnar dislocation
chpo_term: 尺桡关节脱位
id: HP:0006441
hpo_term: Lateral humeral condyle aplasia
chpo_term: 肱骨外侧髁发育不全
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0009773
hpo_term: Symphalangism affecting the phalanges of the hand
chpo_term: 指关节融合
id: HP:0012478
hpo_term: Temporomandibular joint ankylosis
chpo_term: 颞下颌关节强直
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:1415):
MED12-related Hardikar syndrome
HDKR
Cholestasis-pigmentary retinopathy-cleft palate syndrome
Hardikar syndrome

Associated phenotypes (HPO):
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0004297
hpo_term: Abnormality of the biliary system
chpo_term: 胆道系统异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0012437
hpo_term: Abnormal gallbladder morphology
chpo_term: 胆囊形态异常
id: HP:0100890
hpo_term: Cyst of the ductus choledochus
chpo_term: 胆总管囊肿
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000148
hpo_term: Vaginal atresia
chpo_term: 阴道闭锁
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
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:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002245
hpo_term: Meckel diverticulum
chpo_term: Meckel憩室
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
id: HP:6000413
Disease (ORPHA:1414):
Cholestasis-lymphedema syndrome
Aagenaes syndrome

Associated phenotypes (HPO):
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001012
hpo_term: Multiple lipomas
chpo_term: 多发性脂肪瘤
id: HP:0001080
hpo_term: Biliary tract abnormality
chpo_term: 胆道异常
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
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:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0003110
hpo_term: Abnormality of urine homeostasis
chpo_term: 尿稳态平衡异常
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0006566
hpo_term: Neonatal cholestatic liver disease
chpo_term: 新生儿胆汁淤积性肝病
id: HP:0011985
hpo_term: Acholic stools
chpo_term: 无胆色大便
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100763
hpo_term: Abnormality of the lymphatic system
chpo_term: 淋巴系统异常
Disease (ORPHA:276152):
MEN4
Multiple endocrine neoplasia type 4

Associated phenotypes (HPO):
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0000843
hpo_term: Hyperparathyroidism
chpo_term: 甲状旁腺功能亢进症
id: HP:0002897
hpo_term: Parathyroid adenoma
chpo_term: 甲状旁腺腺瘤
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0003165
hpo_term: Elevated circulating parathyroid hormone level
chpo_term: 血甲状旁腺激素水平升高
id: HP:0008208
hpo_term: Parathyroid hyperplasia
chpo_term: 甲状旁腺增生
id: HP:0000825
hpo_term: Hyperinsulinemic hypoglycemia
chpo_term: 高胰岛素性低血糖
id: HP:0000845
hpo_term: Elevated circulating growth hormone concentration
chpo_term: 生长激素水平升高
id: HP:0000854
hpo_term: Thyroid adenoma
chpo_term: 甲状腺腺瘤
id: HP:0001031
hpo_term: Subcutaneous lipoma
chpo_term: 皮下脂肪瘤
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002044
hpo_term: Zollinger-Ellison syndrome
chpo_term: Zollinger-Ellison 综合征
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
id: HP:0002893
hpo_term: Pituitary adenoma
chpo_term: 垂体腺瘤
id: HP:0004398
hpo_term: Peptic ulcer
chpo_term: 消化性溃疡
id: HP:0006767
hpo_term: Pituitary prolactin cell adenoma
chpo_term: 垂体泌乳素腺瘤
id: HP:0006772
hpo_term: Renal angiomyolipoma
chpo_term: 肾血管平滑肌脂肪瘤
id: HP:0008256
hpo_term: Adrenocortical adenoma
chpo_term: 肾上腺皮质腺瘤
id: HP:0008283
hpo_term: Fasting hyperinsulinemia
chpo_term: 空腹高胰岛素血症
id: HP:0010615
hpo_term: Angiofibromas
chpo_term: 血管纤维瘤
id: HP:0011760
hpo_term: Pituitary growth hormone cell adenoma
chpo_term: 垂体生长激素腺瘤
id: HP:0011761
hpo_term: Pituitary null cell adenoma
chpo_term: 垂体裸细胞腺瘤
id: HP:0012091
hpo_term: Abnormality of pancreas physiology
chpo_term: 胰腺生理功能异常
id: HP:0012197
hpo_term: Insulinoma
chpo_term: 胰岛素瘤
id: HP:0030445
hpo_term: Pulmonary carcinoid tumor
chpo_term: 肺类癌
id: HP:0100633
hpo_term: Esophagitis
chpo_term: 食管炎
id: HP:0100634
hpo_term: Neuroendocrine neoplasm
chpo_term: 神经内分泌肿瘤
id: HP:0003118
hpo_term: Increased circulating cortisol level
chpo_term: 血皮质醇水平增加
id: HP:0006780
hpo_term: Parathyroid carcinoma
chpo_term: 甲状旁腺癌
id: HP:0007449
hpo_term: Confetti-like hypopigmented macules
chpo_term: 斑驳样色素减退斑
id: HP:0008291
hpo_term: Pituitary corticotropic cell adenoma
chpo_term: 垂体促肾上腺皮质激素腺瘤
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0010788
hpo_term: Testicular neoplasm
chpo_term: 睾丸肿瘤
id: HP:0012030
hpo_term: Increased urinary cortisol level
chpo_term: 尿皮质醇水平增高
id: HP:0012334
hpo_term: Extrahepatic cholestasis
chpo_term: 肝外胆汁淤积
id: HP:0030079
hpo_term: Cervix cancer
chpo_term: 宫颈癌
id: HP:0030688
hpo_term: Increased glucagon level
chpo_term: 胰高血糖素水平增加
id: HP:0100570
hpo_term: Carcinoid tumor
chpo_term: 类癌
id: HP:0100522
hpo_term: Thymoma
chpo_term: 胸腺瘤
Disease (ORPHA:2743):
Levic-Stefanovic-Nikolic syndrome
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome

Associated phenotypes (HPO):
id: HP:0000221
hpo_term: Furrowed tongue
chpo_term: 沟裂舌
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0012246
hpo_term: Oculomotor nerve palsy
chpo_term: 动眼神经麻痹
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
Disease (ORPHA:277):
Severe combined immunodeficiency due to adenosine deaminase deficiency
ADA deficiency
SCID due to adenosine deaminase deficiency

Associated phenotypes (HPO):
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0002849
hpo_term: Absence of lymph node germinal center
chpo_term: 淋巴结生发中心缺失
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0005354
hpo_term: Lack of T cell function
chpo_term: T细胞功能缺陷
id: HP:0005368
hpo_term: Abnormality of humoral immunity
chpo_term: 体液免疫异常
id: HP:0005390
hpo_term: Recurrent opportunistic infections
chpo_term: 反复机会性感染
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0010444
hpo_term: Pulmonary insufficiency
chpo_term: 肺动脉瓣关闭不全
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0011123
hpo_term: Inflammatory abnormality of the skin
chpo_term: 皮肤炎症反应
id: HP:0012393
hpo_term: Allergy
chpo_term: 过敏
id: HP:0025379
hpo_term: Anti-thyroid peroxidase antibody positivity
chpo_term: 抗甲状腺过氧化物酶抗体阳性
id: HP:0030813
hpo_term: Absent tonsils
chpo_term: 扁桃体缺如
Disease (ORPHA:276):
T-B+ severe combined immunodeficiency, X-linked
SCIDX1
T-B+ severe combined immunodeficiency due to gamma chain deficiency
T-B+ SCID due to gamma chain deficiency

Associated phenotypes (HPO):
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0032218
hpo_term: Decreased proportion of CD4-positive T cells
chpo_term: CD4+T细胞比例减低
id: HP:0010701
hpo_term: Abnormal immunoglobulin level
chpo_term: 免疫球蛋白水平异常
id: HP:0031381
hpo_term: Decreased lymphocyte proliferation in response to mitogen
chpo_term: 淋巴细胞有丝分裂原应答性增殖减弱
id: HP:0031397
hpo_term: Decreased proportion of naive T cells
chpo_term: 初始 T 细胞比例减低
id: HP:0040218
hpo_term: Reduced natural killer cell count
chpo_term: 自然杀伤细胞数量减少
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0005390
hpo_term: Recurrent opportunistic infections
chpo_term: 反复机会性感染
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0031545
hpo_term: Abnormally low T cell receptor excision circle level
chpo_term: T细胞受体重排删除环水平减低
id: HP:0045080
hpo_term: Decreased proportion of CD3-positive T cells
chpo_term: CD3+T细胞比例减低
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002728
hpo_term: Chronic mucocutaneous candidiasis
chpo_term: 慢性皮肤粘膜念珠菌病
id: HP:0002732
hpo_term: Lymph node hypoplasia
chpo_term: 淋巴结发育不全
id: HP:0005353
hpo_term: Recurrent herpes
chpo_term: 复发性疱疹
id: HP:0005376
hpo_term: Recurrent Haemophilus influenzae infections
chpo_term: 反复流感嗜血杆菌感染
id: HP:0005406
hpo_term: Recurrent bacterial skin infections
chpo_term: 复发性细菌性皮肤感染
id: HP:0005428
hpo_term: Severe recurrent varicella
chpo_term: 重症复发性水痘
id: HP:0009098
hpo_term: Chronic oral candidiasis
chpo_term: 慢性口腔念珠菌病
id: HP:0011370
hpo_term: Recurrent cutaneous fungal infections
chpo_term: 复发性皮肤真菌感染
id: HP:0030813
hpo_term: Absent tonsils
chpo_term: 扁桃体缺如
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0003237
hpo_term: Increased circulating IgG level
chpo_term: 循环IgG水平升高
id: HP:0005523
hpo_term: Lymphoproliferative disorder
chpo_term: 淋巴增生性疾病
Disease (ORPHA:99147):
Acquired von Willebrand syndrome
Acquired von Willebrand disease

Associated phenotypes (HPO):
id: HP:0003125
hpo_term: Reduced factor VIII activity
chpo_term: 凝血因子VIII活性减低
id: HP:0004377
hpo_term: Hematological neoplasm
chpo_term: 血液肿瘤
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0008330
hpo_term: Reduced von Willebrand factor activity
chpo_term: 血管性血友病因子活性减低
id: HP:0030129
hpo_term: Impaired ristocetin cofactor assay activity
chpo_term: 瑞斯托菌素辅因子测定活性减低
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000471
hpo_term: Gastrointestinal angiodysplasia
chpo_term: 胃肠道血管发育不良
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0001897
hpo_term: Normocytic anemia
chpo_term: 正细胞性贫血
id: HP:0001931
hpo_term: Hypochromic anemia
chpo_term: 低色素性贫血
id: HP:0001933
hpo_term: Subcutaneous hemorrhage
chpo_term: 皮下出血
id: HP:0001934
hpo_term: Persistent bleeding after trauma
chpo_term: 创伤后持续性出血
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002249
hpo_term: Melena
chpo_term: 黑便
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0005261
hpo_term: Joint hemorrhage
chpo_term: 关节出血
id: HP:0005505
hpo_term: Refractory anemia
chpo_term: 难治性贫血
id: HP:0025406
hpo_term: Asthenia
chpo_term: 虚弱
id: HP:0100608
hpo_term: Metrorrhagia
chpo_term: 子宫出血
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血