TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:99095):
Congenital Gerbode defect
Left ventricular-to-right atrial communication

Associated phenotypes (HPO):
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0012382
hpo_term: Left-to-right shunt
chpo_term: 左向右分流
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001667
hpo_term: Right ventricular hypertrophy
chpo_term: 右心室肥厚
id: HP:0001708
hpo_term: Right ventricular failure
chpo_term: 右心衰竭
id: HP:0001785
hpo_term: Ankle swelling
chpo_term: 踝关节肿胀
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0005168
hpo_term: Elevated right atrial pressure
chpo_term: 右心房压力升高
id: HP:0006689
hpo_term: Bacterial endocarditis
chpo_term: 细菌性心内膜炎
id: HP:0011682
hpo_term: Perimembranous ventricular septal defect
chpo_term: 膜周型室间隔缺损
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012398
hpo_term: Peripheral edema
chpo_term: 周围性水肿
id: HP:0030718
hpo_term: Right atrial enlargement
chpo_term: 右心房扩大
id: HP:0030830
hpo_term: Crackles
chpo_term: 肺啰音
id: HP:0031443
hpo_term: Abnormal tricuspid valve leaflet morphology
chpo_term: 三尖瓣小叶形态异常
id: HP:0031664
hpo_term: Systolic heart murmur
chpo_term: 心脏收缩期杂音
id: HP:0031667
hpo_term: Holosystolic murmur
chpo_term: 心脏收缩整期杂音
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002563
hpo_term: Constrictive pericarditis
chpo_term: 缩窄性心包炎
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0030848
hpo_term: Elevated jugular venous pressure
chpo_term: 颈静脉压升高
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
Disease (ORPHA:1598):
De Grouchy syndrome type 1
Monosomy 18p syndrome
18p- syndrome

Associated phenotypes (HPO):
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0009738
hpo_term: Abnormal antihelix morphology
chpo_term: 对耳轮形态异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000692
hpo_term: Tooth malposition
chpo_term: 牙列不齐
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0100625
hpo_term: Enlarged thorax
chpo_term: 胸廓扩张
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:1597):
Telomeric deletion 17q
Distal monosomy 17q
Distal deletion 17q syndrome
Monosomy 17qter

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000288
hpo_term: Abnormality of the philtrum
chpo_term: 人中异常
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:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001172
hpo_term: Abnormal thumb morphology
chpo_term: 拇指形态异常
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003272
hpo_term: Abnormal hip bone morphology
chpo_term: 髋骨形态异常
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004097
hpo_term: Deviation of finger
chpo_term: 手指偏离
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0009601
hpo_term: Aplasia/Hypoplasia of the thumb
chpo_term: 拇指发育不全或发育不良
id: HP:0010293
hpo_term: Aplasia/Hypoplasia of the uvula
chpo_term: 悬雍垂发育不全／未发育
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0100555
hpo_term: Asymmetric growth
chpo_term: 不对称生长
id: HP:0100560
hpo_term: Upper limb asymmetry
chpo_term: 上肢不对称
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
Disease (ORPHA:160148):
Inflammatory myoglandular polyps
Cap inflammatory polyposis
Polypoid prolapsing folds
Eroded polypoid hyperplasia
Cap polyposis

Associated phenotypes (HPO):
id: HP:0200063
hpo_term: Colorectal polyposis
chpo_term: 结直肠息肉病
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0002582
hpo_term: Atrophic gastritis
chpo_term: 萎缩性胃炎
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
Disease (ORPHA:79492):
Pili gemini
Pili multigemini

Associated phenotypes (HPO):
id: HP:0003329
hpo_term: Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
chpo_term: 毛干不规则扁平分布并绕发轴180度扭转
id: HP:0003328
hpo_term: Abnormal hairshaft morphology
chpo_term: 毛干形态异常
Disease (ORPHA:79493):
CYLD cutaneous syndrome
Brooke-Spiegler syndrome

Associated phenotypes (HPO):
id: HP:0031024
hpo_term: Cylindroma
chpo_term: 圆柱瘤
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000464
hpo_term: Abnormality of the neck
chpo_term: 颈部异常
id: HP:0001965
hpo_term: Abnormal scalp morphology
chpo_term: 头皮形态异常
id: HP:0012842
hpo_term: Skin appendage neoplasm
chpo_term: 皮肤附属器肿瘤
id: HP:0025367
hpo_term: Trichoepithelioma
chpo_term: 毛发上皮瘤
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0007606
hpo_term: Multiple cutaneous malignancies
chpo_term: 多发性皮肤恶性肿瘤
id: HP:0010732
hpo_term: Nodular changes affecting the eyelids
chpo_term: 眼睑的结节样改变
id: HP:0025512
hpo_term: Skin-colored papule
chpo_term: 肤色丘疹
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000372
hpo_term: Abnormality of the auditory canal
chpo_term: 耳道异常
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0010287
hpo_term: Abnormality of the submandibular glands
chpo_term: 颌下腺异常
id: HP:0010288
hpo_term: Abnormality of the sublingual glands
chpo_term: 舌下腺异常
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0100684
hpo_term: Salivary gland neoplasm
chpo_term: 唾液腺肿瘤
Disease (ORPHA:37612):
Episodic ataxia type 1
Episodic ataxia with myokymia

Associated phenotypes (HPO):
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002370
hpo_term: Poor coordination
chpo_term: 协调能力下降
id: HP:0002411
hpo_term: Myokymia
chpo_term: 肌纤维颤搐
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
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:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001188
hpo_term: Hand clenching
chpo_term: 攥拳手
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002486
hpo_term: Myotonia
chpo_term: 肌强直
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0005461
hpo_term: Craniofacial disproportion
chpo_term: 颅面比例失调
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
Disease (ORPHA:34587):
Glycogen storage disease, type IIb
GSD, type 2B
Danon disease
GSD due to LAMP-2 deficiency
Lysosomal glycogen storage disease with normal acid maltase activity
Glycogenosis due to LAMP-2 deficiency
Glycogen storage disease due to LAMP-2 deficiency
Glycogen storage disease, type 2B
GSD, type IIb

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0006543
hpo_term: Cardiorespiratory arrest
chpo_term: 心跳呼吸骤停
id: HP:0010547
hpo_term: Muscle flaccidity
chpo_term: 肌无力
Disease (ORPHA:79499):
Autosomal dominant hearing loss-onychodystrophy syndrome
DDOD syndrome
Autosomal dominant deafness-onychodystrophy syndrome

Associated phenotypes (HPO):
id: HP:0001817
hpo_term: Absent fingernail
chpo_term: 指甲缺损
id: HP:0008625
hpo_term: Severe sensorineural hearing impairment
chpo_term: 重度感音神经性耳聋
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0001802
hpo_term: Absent toenail
chpo_term: 趾甲缺损
id: HP:0008386
hpo_term: Aplasia/Hypoplasia of the nails
chpo_term: 甲发育缺陷/不全
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
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:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0012554
hpo_term: Absent thumbnail
chpo_term: 拇指甲缺失
id: HP:0200104
hpo_term: Absent fifth fingernail
chpo_term: 第5指甲缺损
id: HP:0200141
hpo_term: Small, conical teeth
chpo_term: 锥形小齿
Disease (ORPHA:1580):
Distal monosomy 10p
Telomeric deletion 10p
Monosomy 10pter
Distal deletion 10p syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000364
hpo_term: Hearing abnormality
chpo_term: 听力异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
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: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:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
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:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0004397
hpo_term: Ectopic anus
chpo_term: 肛门异位
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
Disease (ORPHA:544254):
SYNGAP1-related DEE
SYNGAP1-related developmental and epileptic encephalopathy

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0010832
hpo_term: Abnormality of pain sensation
chpo_term: 痛觉异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
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:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002370
hpo_term: Poor coordination
chpo_term: 协调能力下降
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0020208
hpo_term: Eating-induced seizure
chpo_term: 进食诱发性癫痫发作
id: HP:0100738
hpo_term: Abnormal eating behavior
chpo_term: 进食行为异常
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0008770
hpo_term: Obsessive-compulsive trait
chpo_term: 强迫特质
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0011150
hpo_term: Myoclonic absence seizure
chpo_term: 肌阵挛失神发作
id: HP:0012703
hpo_term: Abnormal subarachnoid space morphology
chpo_term: 蛛网膜下腔形态异常
id: HP:0030810
hpo_term: Abnormal tongue physiology
chpo_term: 舌头生理异常
id: HP:0040080
hpo_term: Anteverted ears
chpo_term: 前倾耳
id: HP:0100023
hpo_term: Recurrent hand flapping
chpo_term: 反复用手拍打
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
Disease (ORPHA:1587):
Deletion 13q14
Monosomy 13q14 syndrome
Del(13)(q14)

Associated phenotypes (HPO):
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:0000391
hpo_term: Thickened helices
chpo_term: 耳轮增厚
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
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:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0009919
hpo_term: Retinoblastoma
chpo_term: 视网膜母细胞瘤
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0009601
hpo_term: Aplasia/Hypoplasia of the thumb
chpo_term: 拇指发育不全或发育不良
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
Disease (ORPHA:79480):
Senear-Usher syndrome
Pemphigus erythematosus
Seborrheic pemphigus

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0011355
hpo_term: Localized skin lesion
chpo_term: 局限性皮损
id: HP:0025300
hpo_term: Malar rash
chpo_term: 颧部皮疹
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0100792
hpo_term: Acantholysis
chpo_term: 皮肤棘层松解
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
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:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0007510
hpo_term: Focal dermal aplasia/hypoplasia
chpo_term: 真皮局灶性发育缺陷/发育不全
id: HP:0030208
hpo_term: Anti-acetylcholine receptor antibody positivity
chpo_term: 抗乙酰胆碱受体抗体阳性
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
Disease (ORPHA:79481):
Pemphigus foliaceus

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0100792
hpo_term: Acantholysis
chpo_term: 皮肤棘层松解
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:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0011830
hpo_term: Abnormal oral mucosa morphology
chpo_term: 口腔黏膜形态异常
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0004377
hpo_term: Hematological neoplasm
chpo_term: 血液肿瘤
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
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:0200039
hpo_term: Pustule
chpo_term: 脓疱
Disease (ORPHA:1581):
Non-telomeric monosomy 10q
Non-distal monosomy 10q
Non-distal deletion 10q syndrome

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
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:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0010557
hpo_term: Overlapping fingers
chpo_term: 指交叠
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害