TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:248340):
3MC SYNDROME 3
3MC syndrome 3

Associated phenotypes (HPO):
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0000537
hpo_term: Epicanthus inversus
chpo_term: 内眦赘皮倒转
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0001540
hpo_term: Diastasis recti
chpo_term: 腹直肌分离
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0030025
hpo_term: Auricular pit
chpo_term: 耳凹
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000808
hpo_term: Penoscrotal hypospadias
chpo_term: 阴茎阴囊型尿道下裂
id: HP:0100258
hpo_term: Preaxial polydactyly
chpo_term: 轴前多指（趾）
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0002006
hpo_term: Facial cleft
chpo_term: 面裂
Disease (OMIM:618958):
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47
Combined oxidative phosphorylation deficiency 47

Associated phenotypes (HPO):
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0010248
hpo_term: Cone-shaped epiphyses of the distal phalanges of the hand
chpo_term: 末节指骨的锥形骨骺
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:618780):
Congenital heart defects, multiple types, 7
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7

Associated phenotypes (HPO):
id: HP:0031834
hpo_term: Aortopulmonary collateral arteries
chpo_term: 主肺动脉的侧支动脉
id: HP:0011590
hpo_term: Double aortic arch
chpo_term: 双主动脉弓
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0005134
hpo_term: Absence of the pulmonary valve
chpo_term: 肺动脉瓣缺失
id: HP:0012020
hpo_term: Right aortic arch
chpo_term: 右位主动脉弓
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0004935
hpo_term: Pulmonary artery atresia
chpo_term: 肺动脉闭锁
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613819):
Short-Rib thoracic dysplasia 4 with or without polydactyly
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY

Associated phenotypes (HPO):
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
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
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001407
hpo_term: Hepatic cysts
chpo_term: 肝囊肿
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
Disease (OMIM:301026):
KEIPERT SYNDROME
Keipert syndrome

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002263
hpo_term: Exaggerated cupid's bow
chpo_term: 夸张的丘比特唇弓
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0001802
hpo_term: Absent toenail
chpo_term: 趾甲缺损
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0007687
hpo_term: Unilateral ptosis
chpo_term: 单侧上睑下垂
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0009836
hpo_term: Broad distal phalanx of finger
chpo_term: 末节指骨变宽
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000215
hpo_term: Thick upper lip vermilion
chpo_term: 厚上红唇
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
Disease (OMIM:602082):
Corneal dystrophy of bowman layer, type II
CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE

Associated phenotypes (HPO):
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000559
hpo_term: Corneal scarring
chpo_term: 角膜瘢痕
id: HP:0007755
hpo_term: Juvenile epithelial corneal dystrophy
chpo_term: 青少年型上皮性角膜营养不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:612291):
JOUBERT SYNDROME 8
Joubert syndrome 8

Associated phenotypes (HPO):
id: HP:0002883
hpo_term: Hyperventilation
chpo_term: 过度通气
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0002085
hpo_term: Occipital encephalocele
chpo_term: 枕部脑膨出
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:614838):
HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA
Hypogonadotropic hypogonadism 9 with or without anosmia

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:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0011803
hpo_term: Bifid nose
chpo_term: 鼻裂
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
id: HP:0004409
hpo_term: Hyposmia
chpo_term: 嗅觉减退
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0009921
hpo_term: Duane anomaly
chpo_term: Duane 异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620545):
ARTHROGRYPOSIS, DISTAL, TYPE 12
Arthrogryposis, distal, type 12

Associated phenotypes (HPO):
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0033748
hpo_term: Hypoesthesia
chpo_term: 感觉迟钝
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001032
hpo_term: Absent distal interphalangeal creases
chpo_term: 远端指间关节皮肤皱褶缺如
id: HP:0031006
hpo_term: Acroparesthesia
chpo_term: 肢端感觉障碍
id: HP:0200160
hpo_term: Agenesis of maxillary incisor
chpo_term: 上颌切牙发育不全
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0009884
hpo_term: Tapered distal phalanges of finger
chpo_term: 锥形末节指骨
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0009130
hpo_term: Hand muscle atrophy
chpo_term: 手部肌肉萎缩
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0006089
hpo_term: Palmar hyperhidrosis
chpo_term: 出汗不良性湿疹
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0002942
hpo_term: Thoracic kyphosis
chpo_term: 胸椎后凸
id: HP:0005879
hpo_term: Congenital finger flexion contractures
chpo_term: 先天性手指屈曲挛缩
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:300310):
Immunodeficiency 61
IMMUNODEFICIENCY 61

Associated phenotypes (HPO):
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0032138
hpo_term: Decreased circulating IgG4 level
chpo_term: 血液IgG4水平降低
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0008348
hpo_term: Decreased circulating IgG2 level
chpo_term: 循环IgG2水平降低
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (OMIM:616949):
Spinocerebellar ataxia, autosomal recessive 23
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
id: HP:0100786
hpo_term: Hypersomnia
chpo_term: 过度睡眠
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:300476):
CONE-ROD DYSTROPHY, X-LINKED, 3
Cone-Rod dystrophy, X-linked, 3

Associated phenotypes (HPO):
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0030825
hpo_term: Absent foveal reflex
chpo_term: 黄斑中心凹反射缺失
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0008002
hpo_term: Abnormality of macular pigmentation
chpo_term: 黄斑色素沉着异常
id: HP:0008323
hpo_term: Abnormal light- and dark-adapted electroretinogram
chpo_term: 异常的明暗适应视网膜电流图
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0000548
hpo_term: Cone/cone-rod dystrophy
chpo_term: 锥杆细胞营养不良
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (OMIM:147791):
JACOBSEN SYNDROME
Jacobsen syndrome

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0010806
hpo_term: U-Shaped upper lip vermilion
chpo_term: U型上红唇
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000921
hpo_term: Missing ribs
chpo_term: 肋骨缺失
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001734
hpo_term: Annular pancreas
chpo_term: 环状胰
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0000066
hpo_term: Labial hypoplasia
chpo_term: 阴唇发育不良
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000060
hpo_term: Clitoral hypoplasia
chpo_term: 阴蒂发育不良
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:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000579
hpo_term: Nasolacrimal duct obstruction
chpo_term: 鼻泪管阻塞
id: HP:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
id: HP:0001104
hpo_term: Macular hypoplasia
chpo_term: 黄斑发育不良
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
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:0000625
hpo_term: Eyelid coloboma
chpo_term: 眼睑缺损
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:614186):
LEBER CONGENITAL AMAUROSIS 16
Leber congenital amaurosis 16

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
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:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:615298):
Symphalangism, proximal, 1B
SYMPHALANGISM, PROXIMAL, 1B

Associated phenotypes (HPO):
id: HP:0009177
hpo_term: Proximal/middle symphalangism of 5th finger
chpo_term: 第五指近节/中节关节融合
id: HP:0006143
hpo_term: Abnormal finger flexion creases
chpo_term: 手指屈曲褶痕异常
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0009536
hpo_term: Short 2nd finger
chpo_term: 第二指短
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:173420):
Platelet disorder, undefined
PLATELET DISORDER, UNDEFINED

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0004377
hpo_term: Hematological neoplasm
chpo_term: 血液肿瘤
id: HP:0003540
hpo_term: Impaired platelet aggregation
chpo_term: 血小板聚集障碍
id: HP:0003010
hpo_term: Prolonged bleeding time
chpo_term: 出血时间延长
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003006
hpo_term: Neuroblastoma
chpo_term: 神经母细胞瘤
Disease (OMIM:604381):
Patent ductus arteriosus and bicuspid aortic valve with hand anomalies
PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES

Associated phenotypes (HPO):
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0005295
hpo_term: Pseudocoarctation of the aorta
chpo_term: 主动脉假性缩窄
id: HP:0010047
hpo_term: Short 5th metacarpal
chpo_term: 第五掌骨短小
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
Disease (OMIM:613825):
COMPLEMENT COMPONENT 9 DEFICIENCY
Complement component 9 deficiency

Associated phenotypes (HPO):
id: HP:0012308
hpo_term: Decreased serum complement C9
chpo_term: 血清补体C9降低
Disease (OMIM:607850):
OSTEOARTHRITIS SUSCEPTIBILITY 3
Hand osteoarthritis

Associated phenotypes (HPO):
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0006233
hpo_term: Osteoarthritis of the distal interphalangeal joint
chpo_term: 远端指（趾）间关节骨性关节炎
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0006226
hpo_term: Osteoarthritis of the first carpometacarpal joint
chpo_term: 第一腕掌关节骨性关节炎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618970):
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE
Cone-rod synaptic disorder syndrome, congenital nonprogressive

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0030329
hpo_term: Retinal thinning
chpo_term: 视网膜变薄
Disease (OMIM:607688):
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
Parkinson disease 11

Associated phenotypes (HPO):
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
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:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620237):
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78
Intellectual developmental disorder, autosomal recessive 78

Associated phenotypes (HPO):
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001138
hpo_term: Optic neuropathy
chpo_term: 视神经病变
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
Disease (OMIM:121400):
CORNEA PLANA 1, AUTOSOMAL DOMINANT
Cornea plana 1

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007720
hpo_term: Flat cornea
chpo_term: 扁平角膜
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:156850):
MICROPHTHALMIA, ISOLATED, WITH CATARACT 1
Microphthalmia, isolated, with cataract 1

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000616
hpo_term: Miosis
chpo_term: 瞳孔缩小
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传