TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:363558):
NORSE
New-onset refractory status epilepticus

Associated phenotypes (HPO):
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0025373
hpo_term: Interictal EEG abnormality
chpo_term: 发作间期脑电图异常
id: HP:0032867
hpo_term: Refractory status epilepticus
chpo_term: 难治性癫痫持续状态
id: HP:0032894
hpo_term: Seizure precipitated by febrile infection
chpo_term: 发热感染诱发的痫性发作
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002457
hpo_term: Abnormal head movements
chpo_term: 头部运动异常
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0007183
hpo_term: Focal T2 hyperintense basal ganglia lesion
chpo_term: 基底节局灶性T2高信号病变
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0010845
hpo_term: EEG with generalized slow activity
chpo_term: 脑电图，广泛性慢活动
id: HP:0011154
hpo_term: Focal autonomic seizure
chpo_term: 局灶性自主神经癫痫发作
id: HP:0011468
hpo_term: Facial tics
chpo_term: 面部抽动
id: HP:0012229
hpo_term: CSF pleocytosis
chpo_term: 脑脊液细胞增多
id: HP:0020217
hpo_term: Focal aware motor seizure
chpo_term: 清醒状态局灶性运动癫痫发作
id: HP:0011117
hpo_term: Abnormality of interleukin secretion
chpo_term: 白介素分泌异常
id: HP:0033716
hpo_term: EEG with frontal epileptiform discharges
chpo_term: 额叶癫痫样放电的脑电图
id: HP:0033717
hpo_term: EEG with temporal epileptiform discharges
chpo_term: 颞叶癫痫样放电的脑电图
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0010841
hpo_term: Multifocal epileptiform discharges
chpo_term: 多灶性痫样放电
id: HP:0010850
hpo_term: EEG with spike-wave complexes
chpo_term: 脑电图，棘慢复合波
id: HP:0011198
hpo_term: EEG with generalized epileptiform discharges
chpo_term: 脑电图，伴广泛性癫痫样放电
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012696
hpo_term: Abnormal thalamic MRI signal intensity
chpo_term: 丘脑核磁共振信号强度异常
id: HP:0030915
hpo_term: Cerebellar edema
chpo_term: 小脑水肿
id: HP:0031358
hpo_term: Vegetative state
chpo_term: 植物状态
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0012751
hpo_term: Abnormal basal ganglia MRI signal intensity
chpo_term: 核磁共振基底节异常信
id: HP:0031475
hpo_term: Status epilepticus without prominent motor symptoms
chpo_term: 非惊厥性癫痫持续状态
Disease (ORPHA:529970):
Acephalic spermatozoa syndrome
Male infertility due to acephalic spermatozoa

Associated phenotypes (HPO):
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0012869
hpo_term: Acephalic spermatozoa
chpo_term: 无头精子
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
id: HP:0012207
hpo_term: Reduced sperm motility
chpo_term: 精子活力降低
id: HP:0012867
hpo_term: Abnormal sperm mid-piece morphology
chpo_term: 精子中段形态异常
id: HP:0002916
hpo_term: Abnormality of chromosome segregation
chpo_term: 染色体分离异常
id: HP:0008226
hpo_term: Androgen insufficiency
chpo_term: 雄激素不足
Disease (ORPHA:1104):
Microphthalmia with facial clefting
Fryns microphthalmia syndrome
Anophthalmia plus syndrome

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
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:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000625
hpo_term: Eyelid coloboma
chpo_term: 眼睑缺损
id: HP:0002006
hpo_term: Facial cleft
chpo_term: 面裂
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0100337
hpo_term: Bilateral cleft palate
chpo_term: 双侧腭裂
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0004097
hpo_term: Deviation of finger
chpo_term: 手指偏离
id: HP:0005105
hpo_term: Abnormal nasal morphology
chpo_term: 鼻形态异常
id: HP:0009906
hpo_term: Aplasia/Hypoplasia of the earlobes
chpo_term: 耳垂发育缺陷/不全
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
Disease (ORPHA:2435):
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
Westerhof-Beemer-Cormane syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
Disease (ORPHA:2432):
Macrosomia-microphthalmia-cleft palate syndrome
Teebi-Al Saleh-Hassoon syndrome

Associated phenotypes (HPO):
id: HP:0000235
hpo_term: Abnormality of the fontanelles or cranial sutures
chpo_term: 囟门或颅缝异常
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002683
hpo_term: Abnormal calvaria morphology
chpo_term: 颅骨形态异常
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0009099
hpo_term: Median cleft palate
chpo_term: 正中腭裂
Disease (ORPHA:1101):
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
Cassia Stocco dos Santos syndrome

Associated phenotypes (HPO):
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:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000485
hpo_term: Megalocornea
chpo_term: 巨角膜
id: HP:0000526
hpo_term: Aniridia
chpo_term: 无虹膜
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000587
hpo_term: Abnormality of the optic nerve
chpo_term: 视神经异常
id: HP:0000598
hpo_term: Abnormality of the ear
chpo_term: 耳部异常
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001704
hpo_term: Tricuspid valve prolapse
chpo_term: 三尖瓣脱垂
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0004327
hpo_term: Abnormal vitreous humor morphology
chpo_term: 玻璃体异常
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0009004
hpo_term: Hypoplasia of the musculature
chpo_term: 肌肉组织发育不全
id: HP:0009465
hpo_term: Ulnar deviation of finger
chpo_term: 手指尺侧偏斜
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0200007
hpo_term: Abnormal size of the palpebral fissures
chpo_term: 睑裂大小异常
Disease (ORPHA:2430):
Congenital macroglossia

Associated phenotypes (HPO):
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001067
hpo_term: Neurofibromas
chpo_term: 神经纤维瘤
id: HP:0500030
hpo_term: Abnormal hepatic glycogen storage
chpo_term: 异常肝糖原储积
Disease (ORPHA:411602):
Autosomal dominant late-onset Parkinson disease
LOPD
Hereditary late-onset Parkinson disease

Associated phenotypes (HPO):
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002304
hpo_term: Akinesia
chpo_term: 运动不能
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002548
hpo_term: Parkinsonism with favorable response to dopaminergic medication
chpo_term: 对多巴胺能药物反应良好的帕金森
id: HP:0004409
hpo_term: Hyposmia
chpo_term: 嗅觉减退
id: HP:0005340
hpo_term: Spastic/hyperactive bladder
chpo_term: 膀胱痉挛/过度活跃
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0000744
hpo_term: Low frustration tolerance
chpo_term: 低挫折承受力
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002362
hpo_term: Shuffling gait
chpo_term: 曳行步态
id: HP:0002367
hpo_term: Visual hallucinations
chpo_term: 幻视
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0004926
hpo_term: Orthostatic hypotension due to autonomic dysfunction
chpo_term: 自主神经功能障碍性体位性低血压
id: HP:0031435
hpo_term: Monotonic speech
chpo_term: 单音调言语
id: HP:0100315
hpo_term: Lewy bodies
chpo_term: 路易体
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
Disease (ORPHA:528647):
HAE with normal C1Inh
Hereditary angioneurotic edema with normal C1Inh
Hereditary angioedema with normal C1 inhibitor
HAE with normal C1 inhibitor
Hereditary angioneurotic edema with normal C1 inhibitor
Hereditary angioedema with normal C1Inh

Associated phenotypes (HPO):
id: HP:0100665
hpo_term: Angioedema
chpo_term: 血管性水肿
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0005225
hpo_term: Intestinal edema
chpo_term: 肠道水肿
id: HP:0010742
hpo_term: Edema of the upper limbs
chpo_term: 上肢水肿
id: HP:0012027
hpo_term: Laryngeal edema
chpo_term: 喉头水肿
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0031188
hpo_term: Genital edema
chpo_term: 生殖器水肿
id: HP:0040315
hpo_term: Tongue edema
chpo_term: 舌头水肿
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0045042
hpo_term: Decreased serum complement C4
chpo_term: 血清补体C4减少
Disease (ORPHA:420556):
Visual snow syndrome

Associated phenotypes (HPO):
id: HP:0100832
hpo_term: Vitreous floaters
chpo_term: 玻璃体漂浮物
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0007302
hpo_term: Bipolar affective disorder
chpo_term: 双相情感障碍
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0030786
hpo_term: Photopsia
chpo_term: 闪光感
id: HP:0030833
hpo_term: Neck pain
chpo_term: 颈痛
id: HP:0031987
hpo_term: Diminished ability to concentrate
chpo_term: 注意力下降
id: HP:5200217
id: HP:5200218
id: HP:6001103
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0012173
hpo_term: Orthostatic tachycardia
chpo_term: 体位性心动过速
id: HP:0033630
hpo_term: Brain fog
chpo_term: 脑雾
id: HP:0002077
hpo_term: Migraine with aura
chpo_term: 有先兆偏头痛
Disease (ORPHA:2439):
Patterson-Stevenson-Fontaine syndrome
Patterson-Stevenson syndrome
Split foot deformity-mandibulofacial dysostosis syndrome

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0005321
hpo_term: Mandibulofacial dysostosis
chpo_term: 下颌面骨发育不全
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
Disease (ORPHA:2438):
HFGS
Hand-foot-genital syndrome
Hand-foot-uterus syndrome

Associated phenotypes (HPO):
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000074
hpo_term: Ureteropelvic junction obstruction
chpo_term: 肾盂输尿管连接部梗阻
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000130
hpo_term: Abnormality of the uterus
chpo_term: 子宫异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000795
hpo_term: Abnormality of the urethra
chpo_term: 尿道异常
id: HP:0000813
hpo_term: Bicornuate uterus
chpo_term: 双角子宫
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0006110
hpo_term: Shortening of all middle phalanges of the fingers
chpo_term: 所有中节指骨缩短
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0008080
hpo_term: Hallux varus
chpo_term: 拇趾内翻
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0010034
hpo_term: Short 1st metacarpal
chpo_term: 第一掌骨短
id: HP:0010105
hpo_term: Short first metatarsal
chpo_term: 第一跖骨短
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0011937
hpo_term: Hypoplastic fifth toenail
chpo_term: 第5趾甲发育不良
Disease (ORPHA:2437):
Czeizel-Losonci syndrome
Split hand with obstructive uropathy, spina bifida and diaphragmatic defects
Split hand-urinary anomalies-spina bifida syndrome

Associated phenotypes (HPO):
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0012300
hpo_term: Ureteral agenesis
chpo_term: 输尿管未发育
id: HP:0025193
hpo_term: Posterolateral diaphragmatic hernia
chpo_term: 后外侧膈疝
id: HP:0100257
hpo_term: Ectrodactyly
chpo_term: 缺趾/指畸形
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001233
hpo_term: 2-3 finger syndactyly
chpo_term: 第二-三指并指
id: HP:0001234
hpo_term: Hitchhiker thumb
chpo_term: “打车手势”拇指
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0002557
hpo_term: Hypoplastic nipples
chpo_term: 乳头发育不良
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0002944
hpo_term: Thoracolumbar scoliosis
chpo_term: 胸腰脊柱侧弯
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0006097
hpo_term: 3-4 finger syndactyly
chpo_term: 第三-四指并指
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0008589
hpo_term: Hypoplastic helices
chpo_term: 耳轮发育不全
id: HP:0008593
hpo_term: Prominent antitragus
chpo_term: 对耳屏突出
id: HP:0008676
hpo_term: Congenital megaureter
chpo_term: 先天性巨输尿管症
id: HP:0009112
hpo_term: Aplasia of the left hemidiaphragm
chpo_term: 左侧膈肌发育不良
id: HP:0010539
hpo_term: Thin calvarium
chpo_term: 颅骨薄
id: HP:0010704
hpo_term: 1-2 finger syndactyly
chpo_term: 第一-二指并指
id: HP:0045026
hpo_term: Abnormality of the mediastinum
chpo_term: 纵膈异常
id: HP:0100760
hpo_term: Clubbing of toes
chpo_term: 杵状趾
Disease (ORPHA:314588):
Distal tetrasomy 15q
Tetrasomy 15q26
Triplication 15q26
Distal triplication 15q syndrome
Tetrasomy 15(q25-qter)
Triplication 15q25-qter

Associated phenotypes (HPO):
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001507
hpo_term: Growth abnormality
chpo_term: 生长异常
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0003517
hpo_term: Birth length greater than 97th percentile
chpo_term: 出生身长大于97百分位数
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
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:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000766
hpo_term: Abnormal sternum morphology
chpo_term: 胸骨形态异常
id: HP:0000811
hpo_term: Abnormal external genitalia
chpo_term: 外生殖器异常
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0010946
hpo_term: Dilatation of the renal pelvis
chpo_term: 肾盂扩张
id: HP:0011039
hpo_term: Abnormal helix morphology
chpo_term: 耳轮形态异常
id: HP:0012304
hpo_term: Hypoplastic aortic arch
chpo_term: 主动脉弓发育不全
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
Disease (ORPHA:529965):
Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
Pilarowski-Bjornsson syndrome

Associated phenotypes (HPO):
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0007874
hpo_term: Almond-shaped palpebral fissure
chpo_term: 杏仁状睑裂
id: HP:0010648
hpo_term: Dermal translucency
chpo_term: 半透明状皮肤
id: HP:0011098
hpo_term: Speech apraxia
chpo_term: 失读症
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0012393
hpo_term: Allergy
chpo_term: 过敏
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0001211
hpo_term: Abnormal fingertip morphology
chpo_term: 指尖形态异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓