TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:2349):
Kocher-Debré-Semelaigne syndrome
Hoffmann syndrome
Muscular pseudohypertrophy-hypothyroidism syndrome

Associated phenotypes (HPO):
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
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:443167):
NUT midline carcinoma
NMC

Associated phenotypes (HPO):
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0001909
hpo_term: Leukemia
chpo_term: 白血病
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0003006
hpo_term: Neuroblastoma
chpo_term: 神经母细胞瘤
id: HP:0012182
hpo_term: Oropharyngeal squamous cell carcinoma
chpo_term: 口咽部鳞状细胞癌
id: HP:0012254
hpo_term: Ewing sarcoma
chpo_term: 尤文肉瘤
id: HP:0045026
hpo_term: Abnormality of the mediastinum
chpo_term: 纵膈异常
id: HP:0100757
hpo_term: Pancreatoblastoma
chpo_term: 胰母细胞瘤
id: HP:0012142
hpo_term: Pancreatic squamous cell carcinoma
chpo_term: 胰腺鳞状细胞癌
Disease (ORPHA:1018):
X-linked Alport syndrome-diffuse leiomyomatosis
Xq22.3 microdeletion syndrome

Associated phenotypes (HPO):
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002031
hpo_term: Abnormal esophagus morphology
chpo_term: 食管形态结构异常
id: HP:0012718
hpo_term: Morphological abnormality of the gastrointestinal tract
chpo_term: 胃肠道形态异常
id: HP:0100751
hpo_term: Esophageal neoplasm
chpo_term: 食管肿瘤
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002571
hpo_term: Achalasia
chpo_term: 贲门失弛缓症
id: HP:0003262
hpo_term: Smooth muscle antibody positivity
chpo_term: 平滑肌抗体阳性
id: HP:0006756
hpo_term: Diffuse leiomyomatosis
chpo_term: 弥漫性平滑肌瘤病
id: HP:0010460
hpo_term: Abnormality of the female genitalia
chpo_term: 女性生殖器官异常
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0100771
hpo_term: Hypoperistalsis
chpo_term: 蠕动迟缓
id: HP:0410281
hpo_term: Dyspepsia
chpo_term: 消化不良
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0006524
hpo_term: Tracheobronchial leiomyomatosis
chpo_term: 气管，支气管平滑肌瘤病
id: HP:0010450
hpo_term: Esophageal stenosis
chpo_term: 食管狭窄
id: HP:0010614
hpo_term: Fibroma
chpo_term: 纤维瘤
id: HP:0010784
hpo_term: Uterine neoplasm
chpo_term: 子宫肿瘤
id: HP:0011501
hpo_term: Anterior lenticonus
chpo_term: 前圆锥形晶状体
id: HP:0011951
hpo_term: Aspiration pneumonia
chpo_term: 吸入性肺炎
id: HP:0012252
hpo_term: Abnormal respiratory system morphology
chpo_term: 呼吸系统形态学异常
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0030416
hpo_term: Vulvar neoplasm
chpo_term: 外阴肿瘤
id: HP:0032141
hpo_term: Precordial pain
chpo_term: 心前区疼痛
id: HP:0040288
hpo_term: Nasogastric tube feeding
chpo_term: 鼻胃管灌食
id: HP:0100650
hpo_term: Vaginal neoplasm
chpo_term: 阴道肿瘤
Disease (ORPHA:98974):
Late hereditary endothelial dystrophy
Endoepithelial corneal dystrophy
FECD
Fuchs endothelial corneal dystrophy

Associated phenotypes (HPO):
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0011488
hpo_term: Abnormal corneal endothelium morphology
chpo_term: 角膜内皮形态异常
id: HP:0011490
hpo_term: Abnormal Descemet membrane morphology
chpo_term: 角膜后弹力层形态异常
id: HP:0011491
hpo_term: Reduced number of corneal endothelial cells
chpo_term: 角膜内皮细胞的数目减少
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0030857
hpo_term: Eye movement-induced pain
chpo_term: 眼动诱发疼痛
Disease (ORPHA:2348):
FPLD2
Familial partial lipodystrophy type 2
Dunnigan syndrome
Familial partial lipodystrophy, Dunnigan type

Associated phenotypes (HPO):
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000991
hpo_term: Xanthomatosis
chpo_term: 黄瘤病
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001677
hpo_term: Coronary artery atherosclerosis
chpo_term: 冠状动脉粥样硬化
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002621
hpo_term: Atherosclerosis
chpo_term: 动脉粥样硬化
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003635
hpo_term: Loss of subcutaneous adipose tissue in limbs
chpo_term: 四肢皮下脂肪组织丢失
id: HP:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
id: HP:0005339
hpo_term: Abnormality of complement system
chpo_term: 补体系统异常
id: HP:0006288
hpo_term: Advanced eruption of teeth
chpo_term: 牙齿过早萌出
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0012084
hpo_term: Abnormality of skeletal muscle fiber size
chpo_term: 骨骼肌纤维的大小异常
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0100601
hpo_term: Eclampsia
chpo_term: 子痫
id: HP:0100607
hpo_term: Dysmenorrhea
chpo_term: 痛经
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0100820
hpo_term: Glomerulopathy
chpo_term: 肾小球病
Disease (ORPHA:86909):
Benign myoclonus epilepsy of infancy
Myoclonic epilepsy of infancy
Benign myoclonic epilepsy of infancy

Associated phenotypes (HPO):
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001326
hpo_term: EEG with irregular generalized spike and wave complexes
chpo_term: 脑电图，不规则的全面性棘慢复合波
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002275
hpo_term: Poor motor coordination
chpo_term: 运动不协调
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0007057
hpo_term: Poor hand-eye coordination
chpo_term: 手眼协调性差
id: HP:0001112
hpo_term: Leber optic atrophy
chpo_term: Leber视神经萎缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0007207
hpo_term: Photosensitive tonic-clonic seizure
chpo_term: 光敏性强直阵挛发作
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
Disease (ORPHA:251937):
Gangliocytoma

Associated phenotypes (HPO):
id: HP:0003005
hpo_term: Ganglioneuroma
chpo_term: 神经节瘤
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0010302
hpo_term: Spinal cord tumor
chpo_term: 脊髓肿瘤
id: HP:0012377
hpo_term: Hemianopia
chpo_term: 偏盲
id: HP:0100006
hpo_term: Neoplasm of the central nervous system
chpo_term: 中枢神经系统的肿瘤
id: HP:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0000845
hpo_term: Elevated circulating growth hormone concentration
chpo_term: 生长激素水平升高
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0002363
hpo_term: Abnormal brainstem morphology
chpo_term: 脑干形态异常
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0011749
hpo_term: Adrenocorticotropic hormone excess
chpo_term: 促肾上腺皮质激素过多
id: HP:0011761
hpo_term: Pituitary null cell adenoma
chpo_term: 垂体裸细胞腺瘤
id: HP:0012503
hpo_term: Abnormality of the pituitary gland
chpo_term: 垂体异常
id: HP:0030018
hpo_term: Decreased female libido
chpo_term: 女性性欲降低
id: HP:0040086
hpo_term: Abnormal prolactin level
chpo_term: 催乳素水平异常
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0006767
hpo_term: Pituitary prolactin cell adenoma
chpo_term: 垂体泌乳素腺瘤
Disease (ORPHA:1005):
Alopecia-contractures-dwarfism-intellectual disability syndrome
ACD-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
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:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
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:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
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:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006887
hpo_term: Intellectual disability, progressive
chpo_term: 进行性智力障碍
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008388
hpo_term: Abnormal toenail morphology
chpo_term: 趾甲形态异常
id: HP:0008855
hpo_term: Moderate postnatal growth retardation
chpo_term: 中度产后发育迟缓
id: HP:0009738
hpo_term: Abnormal antihelix morphology
chpo_term: 对耳轮形态异常
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
id: HP:0011039
hpo_term: Abnormal helix morphology
chpo_term: 耳轮形态异常
Disease (ORPHA:1003):
Scalp defects-postaxial polydactyly syndrome

Associated phenotypes (HPO):
id: HP:0001362
hpo_term: Calvarial skull defect
chpo_term: 颅骨缺损
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0005696
hpo_term: Postaxial polydactyly type A
chpo_term: 轴后多指趾畸形A型
Disease (ORPHA:2334):
Hereditary keratitis
Autosomal dominant keratitis

Associated phenotypes (HPO):
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000539
hpo_term: Abnormality of refraction
chpo_term: 屈光异常
id: HP:0001104
hpo_term: Macular hypoplasia
chpo_term: 黄斑发育不良
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0007990
hpo_term: Hypoplastic iris stroma
chpo_term: 虹膜基质发育不全
id: HP:0011496
hpo_term: Corneal neovascularization
chpo_term: 角膜新生血管
id: HP:0025348
hpo_term: Abnormal corneal limbus morphology
chpo_term: 角膜缘形态异常
id: HP:0032107
hpo_term: Limbal stem cell deficiency
chpo_term: 角膜缘干细胞缺乏症
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000526
hpo_term: Aniridia
chpo_term: 无虹膜
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0006934
hpo_term: Congenital nystagmus
chpo_term: 先天性眼球震颤
id: HP:0007633
hpo_term: Bilateral microphthalmos
chpo_term: 双侧小眼畸形
Disease (ORPHA:2332):
ANKRD11-related disorder
KBG syndrome
Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome

Associated phenotypes (HPO):
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
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:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
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:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0000891
hpo_term: Cervical ribs
chpo_term: 颈肋
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001566
hpo_term: Widely-spaced maxillary central incisors
chpo_term: 上颌中切牙牙间隙增宽
id: HP:0001572
hpo_term: Macrodontia
chpo_term: 巨牙
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002942
hpo_term: Thoracic kyphosis
chpo_term: 胸椎后凸
id: HP:0002948
hpo_term: Vertebral fusion
chpo_term: 椎体融合
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008513
hpo_term: Bilateral conductive hearing impairment
chpo_term: 双侧传导性听觉障碍
id: HP:0010720
hpo_term: Abnormal hair pattern
chpo_term: 毛发分布异常
id: HP:0011842
hpo_term: Abnormal skeletal morphology
chpo_term: 骨骼形态异常
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012725
hpo_term: Cutaneous syndactyly
chpo_term: 皮肤性并指畸形
id: HP:0040019
hpo_term: Finger clinodactyly
chpo_term: 指弯曲
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0004474
hpo_term: Persistent open anterior fontanelle
chpo_term: 前囟持续不闭合
id: HP:0045017
hpo_term: Congenital malformation of the left heart
chpo_term: 先天性左心畸形
Disease (ORPHA:1000):
Ocular albinism with late-onset sensorineural deafness
Ocular albinism with late-onset sensorineural hearing loss

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001107
hpo_term: Ocular albinism
chpo_term: 眼白化病
Disease (ORPHA:2331):
Kawasaki disease
Mucocutaneous lymph node syndrome

Associated phenotypes (HPO):
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001654
hpo_term: Abnormal heart valve morphology
chpo_term: 心脏瓣膜形态异常
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
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:0025525
hpo_term: Scaling skin on fingertip
chpo_term: 指尖鱼鳞样皮损
id: HP:0025537
hpo_term: Plantar edema
chpo_term: 足底水肿
id: HP:0025538
hpo_term: Palmar edema
chpo_term: 手掌水肿
id: HP:0030953
hpo_term: Conjunctival hyperemia
chpo_term: 结膜充血
id: HP:0031042
hpo_term: Strawberry tongue
chpo_term: 草莓舌
id: HP:0031250
hpo_term: Lip fissure
chpo_term: 口唇干裂
id: HP:0100643
hpo_term: Abnormality of nail color
chpo_term: 指（趾）甲颜色异常
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001082
hpo_term: Cholecystitis
chpo_term: 胆囊炎
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
id: HP:0025289
hpo_term: Cervical lymphadenopathy
chpo_term: 颈部淋巴结病变
id: HP:0025493
hpo_term: Palmoplantar erythema
chpo_term: 掌跖红斑
id: HP:0100776
hpo_term: Recurrent pharyngitis
chpo_term: 复发性咽炎
id: HP:0100825
hpo_term: Cheilitis
chpo_term: 唇炎
id: HP:0000206
hpo_term: Glossitis
chpo_term: 舌炎
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0004970
hpo_term: Ascending tubular aorta aneurysm
chpo_term: 生主动脉动脉瘤
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0011658
hpo_term: Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
chpo_term: 右室双出口伴肺动脉下室间隔缺损无肺动脉狭窄
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
id: HP:0100586
hpo_term: Sterile pyuria
chpo_term: 无菌性白细胞尿
Disease (ORPHA:284180):
Dup(X)(p22)
Xp22.13p22.2 duplication syndrome
Dup(X)(p22.13p22.2)
Duplication Xp22

Associated phenotypes (HPO):
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
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:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000454
hpo_term: Flared nostrils
chpo_term: 喇叭状鼻孔
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
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:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007164
hpo_term: Slowed slurred speech
chpo_term: 慢而含混不清的语言
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0011343
hpo_term: Moderate global developmental delay
chpo_term: 中度全面发育延迟
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手