TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:616287):
Lethal congenital contracture syndrome 8
LETHAL CONGENITAL CONTRACTURE SYNDROME 8

Associated phenotypes (HPO):
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0005684
hpo_term: Distal arthrogryposis
chpo_term: 远端关节挛缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0007182
hpo_term: Peripheral hypomyelination
chpo_term: 外周神经髓鞘发育障碍
id: HP:0034197
hpo_term: Third trimester onset
chpo_term: 孕晚期起病
id: HP:0200136
hpo_term: Oral-pharyngeal dysphagia
chpo_term: 口咽部吞咽困难
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001349
hpo_term: Facial diplegia
chpo_term: 双侧面瘫
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
Disease (OMIM:137760):
Glaucoma, primary open angle
GLAUCOMA, PRIMARY OPEN ANGLE

Associated phenotypes (HPO):
id: HP:0012108
hpo_term: Open angle glaucoma
chpo_term: 开角型青光眼
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (OMIM:237900):
HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL
Hyperbilirubinemia, familial transient neonatal

Associated phenotypes (HPO):
id: HP:0001343
hpo_term: Kernicterus
chpo_term: 核黄疸
id: HP:0008176
hpo_term: Neonatal unconjugated hyperbilirubinemia
chpo_term: 新生儿高非结合胆红素血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:600383):
Mesomelia-Synostoses syndrome
MESOMELIA-SYNOSTOSES SYNDROME

Associated phenotypes (HPO):
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0005694
hpo_term: Partial fusion of proximal row of carpal bones
chpo_term: 近排腕骨部分融合
id: HP:0005891
hpo_term: Progressive forearm bowing
chpo_term: 前臂渐进性弯曲
id: HP:0001196
hpo_term: Short umbilical cord
chpo_term: 脐带过短
id: HP:0001193
hpo_term: Ulnar deviation of the hand or of fingers of the hand
chpo_term: 手或手指尺侧偏斜
id: HP:0005096
hpo_term: Distal femoral bowing
chpo_term: 股骨远端弯曲
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0010292
hpo_term: Absent uvula
chpo_term: 悬雍垂缺失
id: HP:0100329
hpo_term: Tarsometatarsal synostosis
chpo_term: 跗跖关节骨性融合
id: HP:0009487
hpo_term: Ulnar deviation of the hand
chpo_term: 手向尺侧偏斜
id: HP:0100328
hpo_term: Carpometacarpal synostosis
chpo_term: 腕掌骨骨性融合
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001786
hpo_term: Narrow foot
chpo_term: 窄足
id: HP:0009701
hpo_term: Metacarpal synostosis
chpo_term: 掌骨骨性融合
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0008845
hpo_term: Mesomelic short stature
chpo_term: 肢中部的身材矮小
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
Disease (OMIM:608907):
ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO
Alzheimer disease 9, susceptibility to

Associated phenotypes (HPO):
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0002185
hpo_term: Neurofibrillary tangles
chpo_term: 神经原纤维缠结
id: HP:0000734
hpo_term: Disinhibition
chpo_term: 脱抑制
id: HP:0410170
hpo_term: Hippocampal atrophy
chpo_term: 海马萎缩
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0100256
hpo_term: Senile plaques
chpo_term: 老年斑
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002511
hpo_term: Alzheimer disease
chpo_term: 阿尔茨海默病
Disease (OMIM:617827):
IMMUNODEFICIENCY 55
Immunodeficiency 55

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0034197
hpo_term: Third trimester onset
chpo_term: 孕晚期起病
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0040219
hpo_term: Absent natural killer cells
chpo_term: 自然杀伤细胞缺如
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:164310):
Oculopharyngodistal myopathy 1
OCULOPHARYNGODISTAL MYOPATHY 1

Associated phenotypes (HPO):
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0032341
hpo_term: Reduced forced vital capacity
chpo_term: 用力肺活量降低
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0003805
hpo_term: Rimmed vacuoles
chpo_term: 镶边空泡
id: HP:0002835
hpo_term: Aspiration
chpo_term: 误吸
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0008756
hpo_term: Bowing of the vocal cords
chpo_term: 声带弯曲
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0004757
hpo_term: Paroxysmal atrial fibrillation
chpo_term: 阵发性房颤
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0100284
hpo_term: EMG: myotonic discharges
chpo_term: 肌电图:肌强直性放电
id: HP:0012416
hpo_term: Hypercapnia
chpo_term: 高碳酸血症
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0003736
hpo_term: Autophagic vacuoles
chpo_term: 自噬空泡
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
Disease (OMIM:208500):
Short-Rib thoracic dysplasia 1 with or without polydactyly
SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY

Associated phenotypes (HPO):
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0000123
hpo_term: Nephritis
chpo_term: 肾炎
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0010444
hpo_term: Pulmonary insufficiency
chpo_term: 肺动脉瓣关闭不全
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0001408
hpo_term: Bile duct proliferation
chpo_term: 胆管增生
id: HP:0001829
hpo_term: Foot polydactyly
chpo_term: 多趾
id: HP:0010230
hpo_term: Cone-shaped epiphyses of the phalanges of the hand
chpo_term: 指骨锥形骨骺
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0008797
hpo_term: Early ossification of capital femoral epiphyses
chpo_term: 早发性股骨头骨骺骨化
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0000895
hpo_term: Lateral clavicle hook
chpo_term: 锁骨外侧钩
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0006557
hpo_term: Polycystic liver disease
chpo_term: 多囊性肝病
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0008839
hpo_term: Hypoplastic pelvis
chpo_term: 骨盆发育不良
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0001161
hpo_term: Hand polydactyly
chpo_term: 多指
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0100732
hpo_term: Pancreatic fibrosis
chpo_term: 胰腺纤维化
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
id: HP:0010582
hpo_term: Irregular epiphyses
chpo_term: 不规则骨骺
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000888
hpo_term: Horizontal ribs
chpo_term: 横位肋骨
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0001737
hpo_term: Pancreatic cysts
chpo_term: 胰腺囊肿
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002866
hpo_term: Hypoplastic iliac wing
chpo_term: 髂翼发育不全
id: HP:0006644
hpo_term: Thoracic dysplasia
chpo_term: 胸廓发育不良
Disease (OMIM:618282):
HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
Hyper-IgE recurrent infection syndrome 3, autosomal recessive

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0031292
hpo_term: Cutaneous abscess
chpo_term: 皮肤脓肿
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0025616
hpo_term: Sterile abscess
chpo_term: 无菌性脓肿
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0032326
hpo_term: Methicillin-resistant Staphylococcus aureus infection
chpo_term: 耐甲氧西林金黄色葡萄球菌感染
id: HP:0009098
hpo_term: Chronic oral candidiasis
chpo_term: 慢性口腔念珠菌病
id: HP:0002728
hpo_term: Chronic mucocutaneous candidiasis
chpo_term: 慢性皮肤粘膜念珠菌病
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0003416
hpo_term: Spinal canal stenosis
chpo_term: 椎管狭窄
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
Disease (OMIM:300148):
MEHMO SYNDROME
Mehmo syndrome

Associated phenotypes (HPO):
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000437
hpo_term: Depressed nasal tip
chpo_term: 鼻尖凹陷
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0003561
hpo_term: Birth length less than 3rd percentile
chpo_term: 出生身长小于第3百分位数
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0400000
hpo_term: Tall chin
chpo_term: 高下巴
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0000026
hpo_term: Male hypogonadism
chpo_term: 男性性腺功能减退症
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
Disease (OMIM:608091):
JOUBERT SYNDROME 2
Joubert syndrome 2

Associated phenotypes (HPO):
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0011933
hpo_term: Elongated superior cerebellar peduncle
chpo_term: 小脑上脚延长
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000617
hpo_term: Abnormality of ocular smooth pursuit
chpo_term: 眼部平稳跟踪异常
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0002876
hpo_term: Episodic tachypnea
chpo_term: 阵发性呼吸急促
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002335
hpo_term: Agenesis of cerebellar vermis
chpo_term: 小脑蚓部发育不全
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0001583
hpo_term: Rotary nystagmus
chpo_term: 旋转眼球震颤
id: HP:0002871
hpo_term: Central apnea
chpo_term: 中枢性呼吸暂停
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0000050
hpo_term: Hypoplastic male external genitalia
chpo_term: 男性外生殖器发育不良
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002195
hpo_term: Dysgenesis of the cerebellar vermis
chpo_term: 小脑蚓部发育不全
id: HP:0000570
hpo_term: Abnormal saccadic eye movements
chpo_term: 眼球扫视运动异常
id: HP:0002790
hpo_term: Neonatal breathing dysregulation
chpo_term: 新生儿呼吸调节异常
id: HP:0000090
hpo_term: Nephronophthisis
chpo_term: 肾结核
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0100951
hpo_term: Enlarged fossa interpeduncularis
chpo_term: 脚间窝扩大
id: HP:0011330
hpo_term: Metopic synostosis
chpo_term: 额缝早闭
id: HP:0002508
hpo_term: Brainstem dysplasia
chpo_term: 脑干发育不良
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0007772
hpo_term: Impaired smooth pursuit
chpo_term: 平滑追视障碍
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0002404
hpo_term: Thickened superior cerebellar peduncle
chpo_term: 小脑上脚增厚
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000588
hpo_term: Optic disc coloboma
chpo_term: 视盘缺损
Disease (OMIM:241100):
Hypogonadism, malehypogonadism and testicular atrophy, included
HYPOGONADISM, MALE

Associated phenotypes (HPO):
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000029
hpo_term: Testicular atrophy
chpo_term: 睾丸萎缩
id: HP:0000026
hpo_term: Male hypogonadism
chpo_term: 男性性腺功能减退症
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
Disease (OMIM:269840):
Immunodeficiency 48
IMMUNODEFICIENCY 48

Associated phenotypes (HPO):
id: HP:0005401
hpo_term: Recurrent candida infections
chpo_term: 反复念珠菌感染
id: HP:0005422
hpo_term: Absence of CD8-positive T cells
chpo_term: CD8 + T细胞缺乏
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0010975
hpo_term: Abnormal B cell count
chpo_term: B细胞数量异常
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0020102
hpo_term: Pneumocystis jirovecii pneumonia
chpo_term: 肺孢子菌肺炎
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0003347
hpo_term: Impaired lymphocyte transformation with phytohemagglutinin
chpo_term: 植物血凝素淋巴细胞转化受损
id: HP:0003139
hpo_term: Panhypogammaglobulinemia
chpo_term: 全丙种球蛋白减少血症
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
Disease (OMIM:619188):
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64
Intellectual developmental disorder, autosomal dominant 64

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001212
hpo_term: Prominent fingertip pads
chpo_term: 指尖垫突出
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
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:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0032388
hpo_term: Periventricular nodular heterotopia
chpo_term: 脑室周围结节性异位症
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:619836):
Hypoalphalipoproteinemia, primary, 2, intermediate
HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE

Associated phenotypes (HPO):
id: HP:0003233
hpo_term: Decreased HDL cholesterol concentration
chpo_term: 低α-脂蛋白血症
id: HP:0031799
hpo_term: Decreased circulating apolipoprotein AI concentration
chpo_term: 载脂蛋白AI水平降低
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传