TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:251274):
Familial hyperaldosteronism type III
FH-III
Familial hyperaldosteronism type 3
FH3

Associated phenotypes (HPO):
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0040084
hpo_term: Abnormal circulating renin
chpo_term: 循环肾素水平异常
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0008221
hpo_term: Adrenal hyperplasia
chpo_term: 肾上腺增生
id: HP:0011740
hpo_term: Glucocortocoid-insensitive primary hyperaldosteronism
chpo_term: 糖皮质激素不敏感的原发性醛固酮增多症
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001657
hpo_term: Prolonged QT interval
chpo_term: QT间期延长
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0200114
hpo_term: Metabolic alkalosis
chpo_term: 代谢性碱中毒
id: HP:0011739
hpo_term: Dexamethasone-suppressible primary hyperaldosteronism
chpo_term: 地塞米松可抑制的原发性醛固酮增多症
Disease (ORPHA:217390):
DOCK8 immunodeficiency syndrome
Combined immunodeficiency due to DOCK8 deficiency
Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
CID due to DOCK8 deficiency

Associated phenotypes (HPO):
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0005401
hpo_term: Recurrent candida infections
chpo_term: 反复念珠菌感染
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0005406
hpo_term: Recurrent bacterial skin infections
chpo_term: 复发性细菌性皮肤感染
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0012203
hpo_term: Onychomycosis
chpo_term: 甲癣
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0200043
hpo_term: Verrucae
chpo_term: 疣
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0006763
hpo_term: Anal canal squamous carcinoma
chpo_term: 肛管鳞状细胞癌
id: HP:0030417
hpo_term: Squamous cell carcinoma of the vulva
chpo_term: 外阴鳞状细胞癌
Disease (ORPHA:49042):
Non-syndromic dentinogenesis imperfecta
Dentinogenesis imperfecta without osteogenesis imperfecta
DGI
DI
DGI without OI
Dentinogenesis imperfecta
Non-syndromic DGI
Opalescent teeth without OI
Opalescent teeth without osteogenesis imperfecta

Associated phenotypes (HPO):
id: HP:0006350
hpo_term: Pulp obliteration
chpo_term: 牙髓腔闭塞
id: HP:0006486
hpo_term: Abnormal dental root morphology
chpo_term: 牙根形态异常
id: HP:0000683
hpo_term: Grayish enamel
chpo_term: 灰色牙釉质
id: HP:0000694
hpo_term: Odontodysplasia
chpo_term: 空壳牙
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0006282
hpo_term: Generalized hypoplasia of dental enamel
chpo_term: 广泛性牙釉质发育不全
id: HP:0006286
hpo_term: Yellow-brown discoloration of the teeth
chpo_term: 棕黄色牙
id: HP:0006479
hpo_term: Abnormal dental pulp morphology
chpo_term: 牙髓形态异常
id: HP:0010299
hpo_term: Abnormal dentin morphology
chpo_term: 牙本质形态异常
id: HP:0011084
hpo_term: Hypocalcification of dental enamel
chpo_term: 牙釉质钙化不全
id: HP:0025124
hpo_term: Fragile teeth
chpo_term: 牙齿发脆
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001592
hpo_term: Selective tooth agenesis
chpo_term: 选择性牙齿发育不全
id: HP:0006094
hpo_term: Finger joint hypermobility
chpo_term: 指关节活动过度
id: HP:0006335
hpo_term: Persistence of primary teeth
chpo_term: 乳牙存留
id: HP:0006336
hpo_term: Short dental root
chpo_term: 短牙根
id: HP:0010485
hpo_term: Hyperextensibility at elbow
chpo_term: 肘关节过伸
id: HP:0045086
hpo_term: Knee joint hypermobility
chpo_term: 膝关节过度伸展
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0003010
hpo_term: Prolonged bleeding time
chpo_term: 出血时间延长
Disease (ORPHA:49041):
IgG4-related retroperitoneal fibrosis
Idiopathic retroperitoneal fibrosis
Ormond disease

Associated phenotypes (HPO):
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001897
hpo_term: Normocytic anemia
chpo_term: 正细胞性贫血
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0003138
hpo_term: Increased blood urea nitrogen
chpo_term: 血液尿素氮升高
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0003419
hpo_term: Low back pain
chpo_term: 下背部疼痛
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0005310
hpo_term: Large vessel vasculitis
chpo_term: 大血管炎
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012583
hpo_term: Unilateral renal hypoplasia
chpo_term: 单侧肾发育不良
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:0030157
hpo_term: Flank pain
chpo_term: 侧腹疼痛
id: HP:0031191
hpo_term: Deep dermal perivascular inflammatory infiltrate
chpo_term: 真皮深层血管周围炎性浸润
id: HP:0000074
hpo_term: Ureteropelvic junction obstruction
chpo_term: 肾盂输尿管连接部梗阻
id: HP:0000872
hpo_term: Hashimoto thyroiditis
chpo_term: 桥本甲状腺炎
id: HP:0001370
hpo_term: Rheumatoid arthritis
chpo_term: 类风湿关节炎
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0002923
hpo_term: Rheumatoid factor positive
chpo_term: 类风湿因子阳性
id: HP:0003262
hpo_term: Smooth muscle antibody positivity
chpo_term: 平滑肌抗体阳性
id: HP:0003453
hpo_term: Antineutrophil antibody positivity
chpo_term: 抗中性粒细胞抗体阳性
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0012578
hpo_term: Membranous nephropathy
chpo_term: 膜性肾病
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0002639
hpo_term: Budd-Chiari syndrome
chpo_term: Budd-Chiari综合征
id: HP:0008682
hpo_term: Renal tubular epithelial necrosis
chpo_term: 肾小管上皮细胞坏死
id: HP:0012871
hpo_term: Varicocele
chpo_term: 精索静脉曲张
id: HP:0012877
hpo_term: Retrograde ejaculation
chpo_term: 逆行射精
id: HP:0100518
hpo_term: Dysuria
chpo_term: 排尿困难
id: HP:0100817
hpo_term: Renovascular hypertension
chpo_term: 肾血管性高血压
Disease (ORPHA:217346):
Del(19)(q13.11)
Monosomy 19q13.11
19q13.11 microdeletion syndrome

Associated phenotypes (HPO):
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001057
hpo_term: Aplasia cutis congenita
chpo_term: 先天性表皮发育不全
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001863
hpo_term: Toe clinodactyly
chpo_term: 脚趾屈趾畸形
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0010761
hpo_term: Broad columella
chpo_term: 宽鼻小柱
id: HP:0200102
hpo_term: Sparse or absent eyelashes
chpo_term: 睫毛稀疏/无睫毛
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0006315
hpo_term: Solitary median maxillary central incisor
chpo_term: 单个上门齿
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:88643):
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome

Associated phenotypes (HPO):
id: HP:0000851
hpo_term: Congenital hypothyroidism
chpo_term: 先天性甲状腺功能减退症
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
Disease (ORPHA:88644):
ARCA1
Autosomal recessive ataxia, Beauce type
SCAR8
Autosomal recessive cerebellar ataxia type 1

Associated phenotypes (HPO):
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002493
hpo_term: Upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍/功能异常
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000570
hpo_term: Abnormal saccadic eye movements
chpo_term: 眼球扫视运动异常
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003445
hpo_term: EMG: neuropathic changes
chpo_term: 肌电图：神经源性变化
id: HP:0007267
hpo_term: Chronic axonal neuropathy
chpo_term: 慢性轴索神经病
id: HP:0007772
hpo_term: Impaired smooth pursuit
chpo_term: 平滑追视障碍
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0025402
hpo_term: Square-wave jerks
chpo_term: 方波急跳
id: HP:0031960
hpo_term: Arm dystonia
chpo_term: 臂肌张力障碍
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0007178
hpo_term: Motor polyneuropathy
chpo_term: 多发性运动神经病
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
Disease (ORPHA:217340):
Dup(17)(q21.31)
17q21.31 microduplication syndrome
Trisomy 17q21.31

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000356
hpo_term: Abnormality of the outer ear
chpo_term: 外耳异常
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
Disease (ORPHA:166119):
Isolated osteopoikilosis

Associated phenotypes (HPO):
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0011849
hpo_term: Abnormal bone ossification
chpo_term: 骨化异常
id: HP:0040068
hpo_term: Abnormality of limb bone
chpo_term: 四肢骨骼异常
id: HP:0004289
hpo_term: Sclerotic foci in hand bones
chpo_term: 手骨硬化灶
id: HP:0009106
hpo_term: Abnormal pelvis bone ossification
chpo_term: 骨盆骨骨化异常
id: HP:0011314
hpo_term: Abnormal long bone morphology
chpo_term: 长骨形态异常
id: HP:0040163
hpo_term: Abnormal pelvis bone morphology
chpo_term: 盆骨形态异常
id: HP:0100774
hpo_term: Hyperostosis
chpo_term: 骨质增生
id: HP:0100925
hpo_term: Sclerosis of foot bone
chpo_term: 足骨硬化
id: HP:0000620
hpo_term: Dacryocystitis
chpo_term: 泪囊炎
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:0001474
hpo_term: Sclerotic scapulae
chpo_term: 肩胛骨硬化
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002823
hpo_term: Abnormality of femur morphology
chpo_term: 股骨形态异常
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0004240
hpo_term: Sclerotic foci within carpal bones
chpo_term: 腕骨内硬化灶
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0030838
hpo_term: Hip pain
chpo_term: 髋痛
id: HP:0030840
hpo_term: Ankle pain
chpo_term: 脚踝痛
id: HP:0030955
hpo_term: Alcoholism
chpo_term: 酗酒
id: HP:0031051
hpo_term: Tarsal sclerosis
chpo_term: 跗骨硬化
id: HP:0032148
hpo_term: Episodic pain
chpo_term: 阵发性疼痛
id: HP:0100569
hpo_term: Abnormally ossified vertebrae
chpo_term: 椎骨异常骨化
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0007417
hpo_term: Discoid lupus rash
chpo_term: 盘状红斑狼疮
id: HP:0010562
hpo_term: Keloids
chpo_term: 瘢痕疙瘩
id: HP:0100324
hpo_term: Scleroderma
chpo_term: 硬皮病
Disease (ORPHA:75325):
Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome
Osteosclerosis-ichthyosis-premature ovarian failure syndrome

Associated phenotypes (HPO):
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
Disease (ORPHA:166113):
Acrokeratosis of Bazex
Bazex syndrome
Acrokeratosis paraneoplastica
Acrokeratosis paraneoplastica of Bazex

Associated phenotypes (HPO):
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:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0011367
hpo_term: Yellow nails
chpo_term: 黄指甲
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0012034
hpo_term: Liposarcoma
chpo_term: 脂肪肉瘤
id: HP:0100816
hpo_term: Lip hyperpigmentation
chpo_term: 唇部色素沉着
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0030078
hpo_term: Lung adenocarcinoma
chpo_term: 肺腺癌
Disease (ORPHA:531151):
9q21.13 microdeletion syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002579
hpo_term: Gastrointestinal dysmotility
chpo_term: 胃肠动力障碍
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0012811
hpo_term: Wide nasal ridge
chpo_term: 宽鼻嵴
id: HP:0030809
hpo_term: Abnormal tongue morphology
chpo_term: 舌头形态异常
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
Disease (ORPHA:3092):
Fixed subaortic stenosis

Associated phenotypes (HPO):
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0031664
hpo_term: Systolic heart murmur
chpo_term: 心脏收缩期杂音
id: HP:0031668
hpo_term: Diastolic heart murmur
chpo_term: 舒张性心杂音
id: HP:0032092
hpo_term: Left ventricular outflow tract obstruction
chpo_term: 左心室流出道梗阻
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0004757
hpo_term: Paroxysmal atrial fibrillation
chpo_term: 阵发性房颤
id: HP:0004970
hpo_term: Ascending tubular aorta aneurysm
chpo_term: 生主动脉动脉瘤
id: HP:0006689
hpo_term: Bacterial endocarditis
chpo_term: 细菌性心内膜炎
id: HP:0006695
hpo_term: Atrioventricular canal defect
chpo_term: 房室管缺损
id: HP:0012764
hpo_term: Orthopnea
chpo_term: 端坐式呼吸
id: HP:0030950
hpo_term: Pulmonary venous hypertension
chpo_term: 肺静脉高压
id: HP:0030973
hpo_term: Postexertional symptom exacerbation
chpo_term: 活动后症状加重
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
Disease (ORPHA:3093):
Congenital aortic valve stenosis

Associated phenotypes (HPO):
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0004380
hpo_term: Aortic valve calcification
chpo_term: 主动脉瓣钙化
id: HP:0005135
hpo_term: Abnormal T-wave
chpo_term: T波异常
id: HP:0005176
hpo_term: Dysplastic aortic valve
chpo_term: 主动脉瓣发育不良
id: HP:0010883
hpo_term: Aortic valve atresia
chpo_term: 主动脉瓣闭锁
id: HP:0025075
hpo_term: Increased QRS voltage
chpo_term: QRS高电压
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0001706
hpo_term: Endocardial fibroelastosis
chpo_term: 心内膜弹力纤维增生症
id: HP:0005162
hpo_term: Abnormal left ventricular function
chpo_term: 左心室功能异常
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0030850
hpo_term: Abnormal pulse pressure
chpo_term: 脉压异常
id: HP:0100584
hpo_term: Endocarditis
chpo_term: 心内膜炎
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0012727
hpo_term: Thoracic aortic aneurysm
chpo_term: 胸主动脉瘤