TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:363654):
X-linked parkinsonism-spasticity syndrome
XPDS

Associated phenotypes (HPO):
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0002396
hpo_term: Cogwheel rigidity
chpo_term: 齿轮样强直
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0006801
hpo_term: Hyperactive deep tendon reflexes
chpo_term: 腱反射亢进
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0002506
hpo_term: Diffuse cerebral atrophy
chpo_term: 弥漫性脑萎缩
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0007082
hpo_term: Dilated third ventricle
chpo_term: 第三脑室扩张
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0012407
hpo_term: Scissor gait
chpo_term: 剪刀步态
Disease (ORPHA:3426):
Double outlet right ventricle
DORV

Associated phenotypes (HPO):
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:3000022
hpo_term: Abnormality of cartilage of external ear
chpo_term: 外耳软骨异常
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001660
hpo_term: Truncus arteriosus
chpo_term: 动脉干
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:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0004935
hpo_term: Pulmonary artery atresia
chpo_term: 肺动脉闭锁
id: HP:0010515
hpo_term: Aplasia/Hypoplasia of the thymus
chpo_term: 胸腺未发育/发育不全
id: HP:0030853
hpo_term: Heterotaxy
chpo_term: 内脏异位
Disease (ORPHA:3427):
Double outlet left ventricle
DOLV

Associated phenotypes (HPO):
id: HP:0011581
hpo_term: Double outlet left ventricle
chpo_term: 左室双出口
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0033118
hpo_term: Abnormal right ventricular function
chpo_term: 右心室功能异常
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0011662
hpo_term: Tricuspid atresia
chpo_term: 三尖瓣闭锁
id: HP:0011686
hpo_term: Abnormal coronary artery course
chpo_term: 冠状动脉走行异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0031664
hpo_term: Systolic heart murmur
chpo_term: 心脏收缩期杂音
id: HP:0004415
hpo_term: Pulmonary artery stenosis
chpo_term: 肺动脉狭窄
id: HP:0005182
hpo_term: Bicuspid pulmonary valve
chpo_term: 二叶肺动脉瓣
id: HP:0010882
hpo_term: Pulmonary valve atresia
chpo_term: 肺动脉瓣闭锁
Disease (ORPHA:3429):
Cleft lip-limb and heart malformations syndrome
Verloove Vanhorick-Brubakk syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0000828
hpo_term: Abnormality of the parathyroid gland
chpo_term: 甲状旁腺异常
id: HP:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常
id: HP:0002823
hpo_term: Abnormality of femur morphology
chpo_term: 股骨形态异常
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0006703
hpo_term: Aplasia/Hypoplasia of the lungs
chpo_term: 肺发育缺陷/不全
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0100542
hpo_term: Abnormal localization of kidney
chpo_term: 肾脏位置异常
Disease (ORPHA:221054):
Elejalde acrocephalopolydactyly
Acrocephalopolydactyly
Acrocephalopolydactylous dysplasia

Associated phenotypes (HPO):
id: HP:0000153
hpo_term: Abnormality of the mouth
chpo_term: 嘴部异常
id: HP:0000234
hpo_term: Abnormality of the head
chpo_term: 头部异常
id: HP:0000263
hpo_term: Oxycephaly
chpo_term: 锥形头
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:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000476
hpo_term: Cystic hygroma
chpo_term: 囊状水瘤
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001538
hpo_term: Protuberant abdomen
chpo_term: 腹部隆凸
id: HP:0002816
hpo_term: Genu recurvatum
chpo_term: 膝反屈
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0005458
hpo_term: Premature closure of fontanelles
chpo_term: 囟门过早闭合
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0012210
hpo_term: Abnormal renal morphology
chpo_term: 肾形态异常
Disease (ORPHA:79140):
MCC
Merkel cell carcinoma
Cutaneous neuroendocrine carcinoma

Associated phenotypes (HPO):
id: HP:0030447
hpo_term: Merkel cell skin cancer
chpo_term: 默克尔细胞皮肤癌
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0002730
hpo_term: Chronic noninfectious lymphadenopathy
chpo_term: 慢性非感染性淋巴结肿大
id: HP:0005374
hpo_term: Cellular immunodeficiency
chpo_term: 细胞免疫缺陷
id: HP:0011356
hpo_term: Regional abnormality of skin
chpo_term: 皮肤局部异常
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0025475
hpo_term: Erythematous macule
chpo_term: 红斑病
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0005526
hpo_term: Lymphoid leukemia
chpo_term: 淋巴细胞白血病
id: HP:0006739
hpo_term: Squamous cell carcinoma of the skin
chpo_term: 皮肤鳞状上皮细胞癌
id: HP:0006775
hpo_term: Multiple myeloma
chpo_term: 多发性骨髓瘤
id: HP:0100570
hpo_term: Carcinoid tumor
chpo_term: 类癌
id: HP:0012658
hpo_term: Abnormal brain FDG positron emission tomography
chpo_term: 脑FDG正电子发射断层扫描异常
id: HP:0030692
hpo_term: Brain neoplasm
chpo_term: 脑肿瘤
id: HP:0040095
hpo_term: Neoplasm of the outer ear
chpo_term: 外耳肿瘤
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
Disease (ORPHA:79141):
PPK nummularis
Keratosis palmoplantaris nummularis
Plamoplantar hyperkeratosis nummularis
Hereditary painful callosities
Plamoplantar keratoderma nummularis

Associated phenotypes (HPO):
id: HP:0005588
hpo_term: Patchy palmoplantar hyperkeratosis
chpo_term: 斑片状掌跖角化病
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
Disease (ORPHA:163525):
Subacute cutaneous lupus erythematosus

Associated phenotypes (HPO):
id: HP:0033555
hpo_term: Anti-Ro/SS-A antibody positivity
chpo_term: 抗 Ro/SS-A 抗体阳性
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0002923
hpo_term: Rheumatoid factor positive
chpo_term: 类风湿因子阳性
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0025526
hpo_term: Psoriasiform lesion
chpo_term: 银屑病样皮损
id: HP:0025528
hpo_term: Annular cutaneous lesion
chpo_term: 环状皮肤病变
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0003613
hpo_term: Antiphospholipid antibody positivity
chpo_term: 抗磷脂抗体阳性
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0007417
hpo_term: Discoid lupus rash
chpo_term: 盘状红斑狼疮
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0020151
hpo_term: Anti-dsDNA antibody positivity
chpo_term: 抗双链DNA 抗体阳性
id: HP:0031540
hpo_term: Linear IgG deposits along the epidermal basement membrane zone
chpo_term: 表皮基底膜带的线性lgG沉积
id: HP:0031541
hpo_term: Linear C3 deposits along the epidermal basement membrane zone
chpo_term: 表皮基底膜带的线性C3沉积
id: HP:0032235
hpo_term: Anti-La/SS-B antibody positivity
chpo_term: 抗 La/SS-B 抗体阳性
id: HP:0033558
hpo_term: Anti-histone antibody positivity
chpo_term: 抗组蛋白抗体阳性
id: HP:0025300
hpo_term: Malar rash
chpo_term: 颧部皮疹
id: HP:0100825
hpo_term: Cheilitis
chpo_term: 唇炎
id: HP:0200029
hpo_term: Vasculitis in the skin
chpo_term: 皮肤血管炎
Disease (ORPHA:411703):
Pulmonary non-tuberculous mycobacterial infection
Non-tuberculous mycobacterial lung disease

Associated phenotypes (HPO):
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0025406
hpo_term: Asthenia
chpo_term: 虚弱
id: HP:0031457
hpo_term: Pulmonary opacity
chpo_term: 肺部模糊影
id: HP:0032016
hpo_term: Abnormal sputum
chpo_term: 痰液异常
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0006510
hpo_term: Chronic pulmonary obstruction
chpo_term: 慢性阻塞性肺疾病
id: HP:0030830
hpo_term: Crackles
chpo_term: 肺啰音
id: HP:0032130
hpo_term: Mycobacterium abscessus abscessus infection
chpo_term: 脓肿分枝杆菌感染
id: HP:0032283
hpo_term: Disseminated nontuberculous mycobacterial infection
chpo_term: 播散性非结核分枝杆菌感染
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
Disease (ORPHA:79144):
COIF syndrome
COIF
Congenital onychodysplasia of the index fingers
Iso-Kikuchi syndrome
Isolated congenital onychodysplasia

Associated phenotypes (HPO):
id: HP:0001816
hpo_term: Thin nail
chpo_term: 薄甲
id: HP:0010793
hpo_term: Bifid nail
chpo_term: 甲分离
id: HP:0030805
hpo_term: Absent lunula
chpo_term: 甲半月缺失
id: HP:0100797
hpo_term: Toenail dysplasia
chpo_term: 趾甲发育不良
id: HP:0100798
hpo_term: Fingernail dysplasia
chpo_term: 指甲发育不良
id: HP:0001598
hpo_term: Concave nail
chpo_term: 反甲
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0005918
hpo_term: Abnormal finger phalanx morphology
chpo_term: 指骨形态异常
id: HP:0008401
hpo_term: Onychogryposis of toenails
chpo_term: 趾甲弯曲
id: HP:0009951
hpo_term: Partial duplication of the distal phalanx of the 2nd finger
chpo_term: 第二指末节指骨部分重复
id: HP:0011313
hpo_term: Narrow nail
chpo_term: 窄甲
id: HP:0030803
hpo_term: Platonychia
chpo_term: 扁平甲
id: HP:0031282
hpo_term: Malalignment of the great toenail
chpo_term: 趾甲错位
id: HP:0040036
hpo_term: Onychogryposis of fingernail
chpo_term: 指甲弯曲
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
id: HP:0012203
hpo_term: Onychomycosis
chpo_term: 甲癣
id: HP:0012710
hpo_term: Ingrown nail
chpo_term: 嵌甲
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0012296
hpo_term: Slender distal phalanx of finger
chpo_term: 末节指骨细长
Disease (ORPHA:79145):
Dowling-Degos disease
Reticular pigment anomaly of flexures

Associated phenotypes (HPO):
id: HP:0007456
hpo_term: Progressive reticulate hyperpigmentation
chpo_term: 进行性网状色素沉着
id: HP:0000464
hpo_term: Abnormality of the neck
chpo_term: 颈部异常
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0030052
hpo_term: Inguinal freckling
chpo_term: 腹股沟雀斑
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0002046
hpo_term: Heat intolerance
chpo_term: 不耐热
id: HP:0012855
hpo_term: Scrotal hyperpigmentation
chpo_term: 阴囊色素沉着
id: HP:0025473
hpo_term: Hyperpigmented papule
chpo_term: 色素沉着性丘疹
id: HP:0030350
hpo_term: Erythematous papule
chpo_term: 红色丘疹
id: HP:0031293
hpo_term: Digital pitting scar
chpo_term: 手指凹陷性疤痕
id: HP:0031447
hpo_term: Penile freckling
chpo_term: 阴茎斑点
id: HP:0040154
hpo_term: Acne inversa
chpo_term: 化脓性汗腺炎
id: HP:0045059
hpo_term: Hyperkeratotic papule
chpo_term: 角化过度性丘疹
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
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:0010610
hpo_term: Palmar pits
chpo_term: 手掌点状隐窝
id: HP:0011354
hpo_term: Generalized abnormality of skin
chpo_term: 泛发性皮肤异常
id: HP:0020073
hpo_term: Hypopigmented macule
chpo_term: 低色素斑点
id: HP:0030442
hpo_term: Anal margin squamous cell carcinoma
chpo_term: 肛缘鳞状细胞癌
id: HP:0031525
hpo_term: Keratoacanthoma
chpo_term: 角化棘皮瘤
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
id: HP:0200040
hpo_term: Epidermoid cyst
chpo_term: 表皮样囊肿
Disease (ORPHA:79147):
Familial reactive perforating collagenosis

Associated phenotypes (HPO):
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0030350
hpo_term: Erythematous papule
chpo_term: 红色丘疹
id: HP:0040186
hpo_term: Maculopapular exanthema
chpo_term: 斑丘疹样皮疹
id: HP:0005585
hpo_term: Spotty hyperpigmentation
chpo_term: 点滴状色素沉着
id: HP:0011123
hpo_term: Inflammatory abnormality of the skin
chpo_term: 皮肤炎症反应
id: HP:0011124
hpo_term: Abnormal epidermal morphology
chpo_term: 表皮形态异常
id: HP:0025164
hpo_term: Increased number of elastic fibers in the dermis
chpo_term: 真皮弹性纤维增多
id: HP:0031512
hpo_term: Abnormal cutaneous collagen fibril morphology
chpo_term: 皮肤胶原纤维形态异常
id: HP:0045059
hpo_term: Hyperkeratotic papule
chpo_term: 角化过度性丘疹
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000606
hpo_term: Abnormality of the periorbital region
chpo_term: 眶周畸形
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001965
hpo_term: Abnormal scalp morphology
chpo_term: 头皮形态异常
id: HP:0007473
hpo_term: Crusting erythematous dermatitis
chpo_term: 结痂性红斑样皮炎
id: HP:0012322
hpo_term: Perifolliculitis
chpo_term: 毛囊周炎
id: HP:0011830
hpo_term: Abnormal oral mucosa morphology
chpo_term: 口腔黏膜形态异常
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001005
hpo_term: Dermatological manifestations of systemic disorders
chpo_term: 系统性疾病的皮肤表现
Disease (ORPHA:3424):
Velo-facial-skeletal syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
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:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0001172
hpo_term: Abnormal thumb morphology
chpo_term: 拇指形态异常
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0001212
hpo_term: Prominent fingertip pads
chpo_term: 指尖垫突出
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
Disease (ORPHA:411709):
Renal agenesis

Associated phenotypes (HPO):
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0012300
hpo_term: Ureteral agenesis
chpo_term: 输尿管未发育
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002009
hpo_term: Potter facies
chpo_term: 波特面容
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0008684
hpo_term: Aplasia/hypoplasia of the uterus
chpo_term: 子宫发育不全/发育不良
id: HP:0010476
hpo_term: Aplasia/Hypoplasia of the bladder
chpo_term: 膀胱发育不全/发育不良
id: HP:0010958
hpo_term: Bilateral renal agenesis
chpo_term: 双肾缺如
id: HP:0012873
hpo_term: Absent vas deferens
chpo_term: 输精管缺如
Disease (ORPHA:79148):
Elastosis perforans serpiginosa

Associated phenotypes (HPO):
id: HP:0000464
hpo_term: Abnormality of the neck
chpo_term: 颈部异常
id: HP:0045059
hpo_term: Hyperkeratotic papule
chpo_term: 角化过度性丘疹
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0025512
hpo_term: Skin-colored papule
chpo_term: 肤色丘疹
id: HP:0025527
hpo_term: Serpiginous cutaneous lesion
chpo_term: 匐行性皮肤病变
id: HP:0025528
hpo_term: Annular cutaneous lesion
chpo_term: 环状皮肤病变
id: HP:0030350
hpo_term: Erythematous papule
chpo_term: 红色丘疹
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0007473
hpo_term: Crusting erythematous dermatitis
chpo_term: 结痂性红斑样皮炎
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
Disease (ORPHA:79149):
François syndrome
Dermochondrocorneal dystrophy

Associated phenotypes (HPO):
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0000991
hpo_term: Xanthomatosis
chpo_term: 黄瘤病
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
Disease (ORPHA:79128):
Lymphocytic interstitial pneumonia
Lymphoid interstitial pneumonia

Associated phenotypes (HPO):
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0005948
hpo_term: Multiple pulmonary cysts
chpo_term: 多发肺囊肿
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0025179
hpo_term: Ground-glass opacification
chpo_term: 毛玻璃样结构
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0030828
hpo_term: Wheezing
chpo_term: 哮鸣音
id: HP:0030830
hpo_term: Crackles
chpo_term: 肺啰音
id: HP:0031691
hpo_term: Severe viral infection
chpo_term: 重症病毒感染
id: HP:0032177
hpo_term: Parenchymal consolidation
chpo_term: 肺实变
id: HP:0045051
hpo_term: Decreased DLCO
chpo_term: 一氧化碳弥散量减少
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0001370
hpo_term: Rheumatoid arthritis
chpo_term: 类风湿关节炎
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0003549
hpo_term: Abnormality of connective tissue
chpo_term: 结缔组织异常
id: HP:0011947
hpo_term: Respiratory tract infection
chpo_term: 呼吸道感染
id: HP:0025178
hpo_term: Subpleural interstitial thickening
chpo_term: 胸膜下间质增厚
id: HP:0025180
hpo_term: Centrilobular ground-glass opacification on pulmonary HRCT
chpo_term: 肺部HRCT可见小叶中心性毛玻璃样结构
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0030950
hpo_term: Pulmonary venous hypertension
chpo_term: 肺静脉高压
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
Disease (ORPHA:79129):
Trichodysplasia-amelogenesis imperfecta syndrome

Associated phenotypes (HPO):
id: HP:0000705
hpo_term: Amelogenesis imperfecta
chpo_term: 牙釉质生长不全
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0002552
hpo_term: Trichodysplasia
chpo_term: 毛发发育异常
Disease (ORPHA:34217):
Naxos syndrome
KWWH type I
Keratosis palmoplantaris with arrythmogenic cardiomyopathy
Palmoplantar keratoderma with arrythmogenic cardiomyopathy
Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy
Keratoderma with woolly hair type I
Naxos disease

Associated phenotypes (HPO):
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0002224
hpo_term: Woolly hair
chpo_term: 羊毛状发
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0004751
hpo_term: Paroxysmal ventricular tachycardia
chpo_term: 阵发性室性心动过速
id: HP:0010719
hpo_term: Abnormality of hair texture
chpo_term: 发质异常
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002212
hpo_term: Curly hair
chpo_term: 卷曲样发
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死