TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:1974):
Autosomal recessive faciodigitogenital syndrome
Facio-digito-genital syndrome, Kuwait type
Aarskog-like syndrome
Teebi-Naguib-Alawadi syndrome

Associated phenotypes (HPO):
id: HP:0000049
hpo_term: Shawl scrotum
chpo_term: 披肩状阴囊
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
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:0000276
hpo_term: Long face
chpo_term: 长脸
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:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000349
hpo_term: Widow's peak
chpo_term: 美人尖
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000472
hpo_term: Long neck
chpo_term: 长颈
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
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:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0010807
hpo_term: Open bite
chpo_term: 开牙合
id: HP:0011359
hpo_term: Dry hair
chpo_term: 干性毛发
id: HP:0200021
hpo_term: Down-sloping shoulders
chpo_term: 肩下斜
Disease (ORPHA:52055):
Graham-Cox syndrome
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
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:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000588
hpo_term: Optic disc coloboma
chpo_term: 视盘缺损
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
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:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
Disease (ORPHA:157835):
Paroxysmal hemicrania

Associated phenotypes (HPO):
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002331
hpo_term: Recurrent paroxysmal headache
chpo_term: 反复发作性头痛
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0002183
hpo_term: Phonophobia
chpo_term: 声音恐惧
id: HP:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:0012384
hpo_term: Rhinitis
chpo_term: 鼻炎
id: HP:0030953
hpo_term: Conjunctival hyperemia
chpo_term: 结膜充血
id: HP:0031284
hpo_term: Flushing
chpo_term: 红晕
id: HP:0031417
hpo_term: Rhinorrhea
chpo_term: 鼻溢液
id: HP:0000616
hpo_term: Miosis
chpo_term: 瞳孔缩小
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0011161
hpo_term: Focal sensory seizure with olfactory features
chpo_term: 有嗅觉特征的局灶性感觉癫痫
id: HP:0012452
hpo_term: Restless legs
chpo_term: 不宁腿
id: HP:0025258
hpo_term: Stiff neck
chpo_term: 颈部僵硬
id: HP:0030833
hpo_term: Neck pain
chpo_term: 颈痛
id: HP:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿
id: HP:0012199
hpo_term: Cluster headache
chpo_term: 丛集性头痛
id: HP:0100661
hpo_term: Trigeminal neuralgia
chpo_term: 三叉神经痛
Disease (ORPHA:439232):
Apolipoprotein A-IV amyloidosis
AApoAIV amyloidosis

Associated phenotypes (HPO):
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0100957
hpo_term: Abnormal renal medulla morphology
chpo_term: 肾髓质形态异常
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001917
hpo_term: Renal amyloidosis
chpo_term: 肾淀粉样病变
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0030872
hpo_term: Abnormal cardiac ventricular function
chpo_term: 心室功能异常
id: HP:0032613
hpo_term: Renal interstitial amyloid deposits
chpo_term: 肾间质淀粉样蛋白沉积
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000096
hpo_term: Glomerular sclerosis
chpo_term: 肾小球硬化
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
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:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0006510
hpo_term: Chronic pulmonary obstruction
chpo_term: 慢性阻塞性肺疾病
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0011713
hpo_term: Left bundle branch block
chpo_term: 左束支传导阻滞
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0031047
hpo_term: Paraproteinemia
chpo_term: 副蛋白血症
id: HP:0031546
hpo_term: Cardiac conduction abnormality
chpo_term: 心脏传导异常
id: HP:0032092
hpo_term: Left ventricular outflow tract obstruction
chpo_term: 左心室流出道梗阻
id: HP:0034807
id: HP:0001688
hpo_term: Sinus bradycardia
chpo_term: 窦性心动过缓
id: HP:0002088
hpo_term: Abnormal lung morphology
chpo_term: 肺部形态异常
id: HP:0004381
hpo_term: Supravalvular aortic stenosis
chpo_term: 主动脉瓣上狭窄
id: HP:0004749
hpo_term: Atrial flutter
chpo_term: 心房扑动
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0012309
hpo_term: Cutaneous amyloidosis
chpo_term: 皮肤淀粉样变
id: HP:0030843
hpo_term: Cardiac amyloidosis
chpo_term: 心脏淀粉样变性
Disease (ORPHA:453533):
Polyendocrine-polyneuropathy syndrome

Associated phenotypes (HPO):
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001730
hpo_term: Progressive hearing impairment
chpo_term: 渐进性听力损失
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0007108
hpo_term: Demyelinating peripheral neuropathy
chpo_term: 脱髓鞘性周围神经病
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0030341
hpo_term: Decreased circulating follicle stimulating hormone concentration
chpo_term: 循环卵泡刺激素浓度降低
id: HP:0030344
hpo_term: Decreased circulating luteinizing hormone level
chpo_term: 循环黄体生成素水平降低
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0100287
hpo_term: EMG: slow motor conduction
chpo_term: 肌电图:运动传导慢
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0010627
hpo_term: Anterior pituitary hypoplasia
chpo_term: 垂体前叶发育不全
id: HP:0011787
hpo_term: Central hypothyroidism
chpo_term: 中枢性甲状腺功能减退症
id: HP:0040216
hpo_term: Hypoinsulinemia
chpo_term: 低胰岛素血症
Disease (ORPHA:1962):
Exostoses-anetodermia-brachydactyly type E syndrome

Associated phenotypes (HPO):
id: HP:0002762
hpo_term: Multiple exostoses
chpo_term: 多发性外生骨疣
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0005863
hpo_term: Type E brachydactyly
chpo_term: E型短指（趾）
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
Disease (ORPHA:90368):
Hypotrichosis simplex of the scalp
Hereditary hypotrichosis simplex of the scalp

Associated phenotypes (HPO):
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0100038
hpo_term: Slow-growing scalp hair
chpo_term: 头发生长缓慢
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0003193
hpo_term: Allergic rhinitis
chpo_term: 过敏性鼻炎
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
id: HP:0000534
hpo_term: Abnormal eyebrow morphology
chpo_term: 眉毛形态异常
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0002550
hpo_term: Absent facial hair
chpo_term: 面部毛发稀疏
id: HP:0004528
hpo_term: Generalized hypotrichosis
chpo_term: 泛发性少毛症
id: HP:0007550
hpo_term: Hypohidrosis or hyperhidrosis
chpo_term: 少汗/多汗症
id: HP:0100133
hpo_term: Abnormality of the pubic hair
chpo_term: 阴毛异常
id: HP:0100134
hpo_term: Abnormality of the axillary hair
chpo_term: 腋毛异常
Disease (ORPHA:1969):
FACES syndrome
Friedman-Goodman syndrome
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Associated phenotypes (HPO):
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000820
hpo_term: Abnormality of the thyroid gland
chpo_term: 甲状腺异常
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001555
hpo_term: Asymmetry of the thorax
chpo_term: 胸廓不对称
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0001633
hpo_term: Abnormal mitral valve morphology
chpo_term: 二尖瓣形态异常
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
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:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0004122
hpo_term: Midline defect of the nose
chpo_term: 鼻中线缺陷
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0007513
hpo_term: Generalized hypopigmentation
chpo_term: 泛发性色素减退
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0010290
hpo_term: Short hard palate
chpo_term: 短硬腭
Disease (ORPHA:1968):
Simosa-Penchaszadeh-Bustos syndrome
Simosa craniofacial syndrome
Flat face-microstomia-ear anomaly syndrome
Blepharophimosis-telecanthus-microstomia syndrome

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
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:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0009738
hpo_term: Abnormal antihelix morphology
chpo_term: 对耳轮形态异常
id: HP:0009896
hpo_term: Abnormal antitragus morphology
chpo_term: 对耳屏形态异常
id: HP:0009906
hpo_term: Aplasia/Hypoplasia of the earlobes
chpo_term: 耳垂发育缺陷/不全
id: HP:0009912
hpo_term: Abnormal tragus morphology
chpo_term: 耳屏形态异常
id: HP:0010669
hpo_term: Hypoplasia of the zygomatic bone
chpo_term: 颧骨发育不良
id: HP:0010751
hpo_term: Dimple chin
chpo_term: 下巴浅凹
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0011830
hpo_term: Abnormal oral mucosa morphology
chpo_term: 口腔黏膜形态异常
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:251066):
8p11.2 deletion syndrome
Del(8)(p11.2)
Monosomy 8p11.2

Associated phenotypes (HPO):
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
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:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000864
hpo_term: Abnormality of the hypothalamus-pituitary axis
chpo_term: 下丘脑-垂体轴异常
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004444
hpo_term: Spherocytosis
chpo_term: 球形红细胞增多症
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005815
hpo_term: Supernumerary ribs
chpo_term: 多余肋
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
Disease (ORPHA:79100):
Folliculitis ulerythematosa reticulate
Atrophoderma vermiculata

Associated phenotypes (HPO):
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
id: HP:0004426
hpo_term: Abnormal cheek morphology
chpo_term: 面颊形态异常
id: HP:0007515
hpo_term: Hypoplastic pilosebaceous units
chpo_term: 毛囊皮脂腺发育不全
id: HP:0011124
hpo_term: Abnormal epidermal morphology
chpo_term: 表皮形态异常
id: HP:0100276
hpo_term: Skin pit
chpo_term: 皮肤凹点
id: HP:0000306
hpo_term: Abnormality of the chin
chpo_term: 下巴异常
id: HP:0007502
hpo_term: Follicular hyperkeratosis
chpo_term: 克尔里病，贯穿性角化过度病
id: HP:0045059
hpo_term: Hyperkeratotic papule
chpo_term: 角化过度性丘疹
id: HP:0100277
hpo_term: Periauricular skin pits
chpo_term: 耳周皮肤点凹
id: HP:0000290
hpo_term: Abnormality of the forehead
chpo_term: 前额异常
id: HP:0000464
hpo_term: Abnormality of the neck
chpo_term: 颈部异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001067
hpo_term: Neurofibromas
chpo_term: 神经纤维瘤
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0012722
hpo_term: Heart block
chpo_term: 心脏传导阻滞
Disease (ORPHA:90362):
Waldmann disease
Primary intestinal lymphangiectasia

Associated phenotypes (HPO):
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002593
hpo_term: Intestinal lymphangiectasia
chpo_term: 肠淋巴管扩张
id: HP:0005387
hpo_term: Combined immunodeficiency
chpo_term: 联合免疫缺陷
id: HP:0012719
hpo_term: Functional abnormality of the gastrointestinal tract
chpo_term: 胃肠道功能异常
id: HP:0100766
hpo_term: Abnormal lymphatic vessel morphology
chpo_term: 淋巴管形态异常
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0003075
hpo_term: Hypoproteinemia
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:0011472
hpo_term: Abnormality of small intestinal villus morphology
chpo_term: 小肠绒毛形态异常
id: HP:0100508
hpo_term: Abnormality of vitamin metabolism
chpo_term: 维生素代谢异常
id: HP:0001281
hpo_term: Tetany
chpo_term: 手足抽搐
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002917
hpo_term: Hypomagnesemia
chpo_term: 低镁血症
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0007430
hpo_term: Generalized edema
chpo_term: 广泛水肿
id: HP:0025624
hpo_term: Reduced proportion of CD4+ effector memory T cells
chpo_term: CD4+效应记忆T细胞比例降低
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0031686
hpo_term: Increased stool alpha1-antitrypsin concentration
chpo_term: 大便α1抗胰蛋白酶浓度升高
id: HP:0031690
hpo_term: Opportunistic infection
chpo_term: 机会性感染
id: HP:0045080
hpo_term: Decreased proportion of CD3-positive T cells
chpo_term: CD3+T细胞比例减低
id: HP:0100512
hpo_term: Low levels of vitamin D
chpo_term: 维生素D缺乏症
id: HP:0032160
hpo_term: Cryptococcal meningitis
chpo_term: 隐球菌性脑膜炎
id: HP:0032215
hpo_term: Disseminated cutaneous warts
chpo_term: 弥漫性皮肤疣
Disease (ORPHA:79102):
Thyrotoxic hypokalemic periodic paralysis
Thyrotoxic periodic paralysis

Associated phenotypes (HPO):
id: HP:0000836
hpo_term: Hyperthyroidism
chpo_term: 甲状腺功能亢进症
id: HP:0008153
hpo_term: Periodic hypokalemic paresis
chpo_term: 低钾性周期性麻痹
id: HP:0012726
hpo_term: Episodic hypokalemia
chpo_term: 阵发性低钾血症
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
id: HP:0002917
hpo_term: Hypomagnesemia
chpo_term: 低镁血症
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
id: HP:0003752
hpo_term: Episodic flaccid weakness
chpo_term: 发作性弛缓无力
id: HP:0004303
hpo_term: Abnormal muscle fiber morphology
chpo_term: 肌纤维形态异常
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0008285
hpo_term: Transient hypophosphatemia
chpo_term: 短暂性低磷血症
id: HP:0011784
hpo_term: Thyrotoxicosis with diffuse goiter
chpo_term: 甲状腺毒症伴弥漫性甲状腺肿
id: HP:0011785
hpo_term: Thyrotoxicosis with toxic multinodular goiter
chpo_term: 毒性多结节性甲状腺肿
id: HP:0011786
hpo_term: Thyrotoxicosis with toxic single thyroid nodule
chpo_term: 甲状腺毒症伴毒性单个甲状腺结节
id: HP:0012240
hpo_term: Increased intramyocellular lipid droplets
chpo_term: 肌细胞内脂滴增加
id: HP:0012364
hpo_term: Decreased urinary potassium
chpo_term: 尿钾降低
id: HP:0100647
hpo_term: Graves disease
chpo_term: Graves病
id: HP:0000016
hpo_term: Urinary retention
chpo_term: 尿潴留
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0009020
hpo_term: Exercise-induced muscle fatigue
chpo_term: 运动诱发的肌肉疲劳
id: HP:0011998
hpo_term: Postprandial hyperglycemia
chpo_term: 餐后高血糖
id: HP:0001657
hpo_term: Prolonged QT interval
chpo_term: QT间期延长
id: HP:0001663
hpo_term: Ventricular fibrillation
chpo_term: 心室纤颤
id: HP:0003694
hpo_term: Late-onset proximal muscle weakness
chpo_term: 晚发性近端肌无力
id: HP:0005165
hpo_term: Shortened PR interval
chpo_term: PR间期缩短
id: HP:0011706
hpo_term: Second degree atrioventricular block
chpo_term: 二度房室传导阻滞
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0002203
hpo_term: Respiratory paralysis
chpo_term: 呼吸肌麻痹
id: HP:0002486
hpo_term: Myotonia
chpo_term: 肌强直
id: HP:0003134
hpo_term: Abnormality of peripheral nerve conduction
chpo_term: 周围神经传导异常
id: HP:0006670
hpo_term: Impaired myocardial contractility
chpo_term: 心肌收缩力受损