TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:607676):
Immunodeficiency 67
IMMUNODEFICIENCY 67

Associated phenotypes (HPO):
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0410255
hpo_term: Transient neutropenia
chpo_term: 一过性中性粒细胞减少
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0410300
hpo_term: Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine
chpo_term: 对肺炎球菌疫苗完全或几乎全无特异性抗体应答
id: HP:0020096
hpo_term: Recurrent streptococcal infections
chpo_term: 复发性链球菌感染
id: HP:0011839
hpo_term: Abnormal T cell count
chpo_term: T细胞数量异常
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003095
hpo_term: Septic arthritis
chpo_term: 化脓性关节炎
id: HP:0010975
hpo_term: Abnormal B cell count
chpo_term: B细胞数量异常
id: HP:0100523
hpo_term: Liver abscess
chpo_term: 肝脓肿
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0040089
hpo_term: Abnormal natural killer cell count
chpo_term: 自然杀伤细胞数量异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007499
hpo_term: Recurrent staphylococcal infections
chpo_term: 反复葡萄球菌感染
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (OMIM:608545):
Larsen-Like syndrome
LARSEN-LIKE SYNDROME

Associated phenotypes (HPO):
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
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:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0005285
hpo_term: Absent nasal bridge
chpo_term: 无鼻梁
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0009279
hpo_term: Radial deviation of the 4th finger
chpo_term: 第四指桡向偏斜
id: HP:0008127
hpo_term: Bipartite calcaneus
chpo_term: 二分跟骨
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:613603):
Chromosome 4q32.1-q32.2 triplication syndrome
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001355
hpo_term: Megalencephaly
chpo_term: 巨脑
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002000
hpo_term: Short columella
chpo_term: 鼻小柱短小
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0010669
hpo_term: Hypoplasia of the zygomatic bone
chpo_term: 颧骨发育不良
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
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:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0030746
hpo_term: Intraventricular hemorrhage
chpo_term: 脑室内出血
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
Disease (OMIM:615272):
Fanconi anemia, complementation group Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002032
hpo_term: Esophageal atresia
chpo_term: 食管闭锁
id: HP:0010445
hpo_term: Primum atrial septal defect
chpo_term: 原发孔型房间隔缺损
id: HP:0040012
hpo_term: Chromosome breakage
chpo_term: 染色体断裂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009777
hpo_term: Absent thumb
chpo_term: 拇指缺如
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0005912
hpo_term: Biliary atresia
chpo_term: 胆道闭锁
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
Disease (OMIM:221320):
DEAFNESS, CONDUCTIVE, WITH PTOSIS AND SKELETAL ANOMALIES
Deafness, conductive, with ptosis and skeletal anomalies

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000968
hpo_term: Ectodermal dysplasia
chpo_term: 外胚层发育不良
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:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
Disease (OMIM:602068):
LEISHMANIASIS, TEGUMENTARY, SUSCEPTIBILITY TO
Leishmaniasis, tegumentary

Associated phenotypes (HPO):
id: HP:0007408
hpo_term: Tegumentary leishmaniasis susceptibility
chpo_term: 皮肤利什曼病易感
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003831
hpo_term: Typified by age-related penetrance
chpo_term: 具有年龄相关的外显率特征
Disease (OMIM:277600):
WEILL-MARCHESANI SYNDROME 1
Weill-Marchesani syndrome 1

Associated phenotypes (HPO):
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002682
hpo_term: Broad skull
chpo_term: 颅骨增宽
id: HP:0001230
hpo_term: Broad metacarpals
chpo_term: 掌骨变宽
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0009768
hpo_term: Broad phalanges of the hand
chpo_term: 指骨变宽
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001169
hpo_term: Broad palm
chpo_term: 宽掌
id: HP:0002753
hpo_term: Thin bony cortex
chpo_term: 骨皮质薄
id: HP:0000594
hpo_term: Shallow anterior chamber
chpo_term: 浅前房
id: HP:0000692
hpo_term: Tooth malposition
chpo_term: 牙列不齐
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0030961
hpo_term: Microspherophakia
chpo_term: 小球形晶状体
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001783
hpo_term: Broad metatarsal
chpo_term: 跖骨变宽
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003416
hpo_term: Spinal canal stenosis
chpo_term: 椎管狭窄
id: HP:0000586
hpo_term: Shallow orbits
chpo_term: 浅眼眶
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000885
hpo_term: Broad ribs
chpo_term: 宽肋骨
Disease (OMIM:109400):
BASAL CELL NEVUS SYNDROME
Basal cell nevus syndrome

Associated phenotypes (HPO):
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0000242
hpo_term: Parietal bossing
chpo_term: 顶骨隆起
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0010609
hpo_term: Skin tags
chpo_term: 皮赘
id: HP:0000283
hpo_term: Broad face
chpo_term: 宽脸
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0010603
hpo_term: Odontogenic keratocysts of the jaw
chpo_term: 颌骨牙源性角化囊肿
id: HP:0004280
hpo_term: Irregular ossification of hand bones
chpo_term: 手骨不规则骨化
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
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:0000912
hpo_term: Sprengel anomaly
chpo_term: 先天性肩胛骨向上移位（Sprengel畸形）
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0200021
hpo_term: Down-sloping shoulders
chpo_term: 肩下斜
id: HP:0005449
hpo_term: Bridged sella turcica
chpo_term: 桥形蝶鞍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001144
hpo_term: Orbital cyst
chpo_term: 眼眶囊肿
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000892
hpo_term: Bifid ribs
chpo_term: 肋骨端分叉
id: HP:0009729
hpo_term: Cardiac rhabdomyoma
chpo_term: 心脏横纹肌瘤
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0005462
hpo_term: Calcification of falx cerebri
chpo_term: 大脑镰钙化
id: HP:0009650
hpo_term: Short distal phalanx of the thumb
chpo_term: 拇指远节指骨缩短
id: HP:0010044
hpo_term: Short 4th metacarpal
chpo_term: 第四掌骨短
id: HP:0002948
hpo_term: Vertebral fusion
chpo_term: 椎体融合
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0009730
hpo_term: Rhabdomyoma
chpo_term: 横纹肌瘤
id: HP:0000766
hpo_term: Abnormal sternum morphology
chpo_term: 胸骨形态异常
id: HP:0005815
hpo_term: Supernumerary ribs
chpo_term: 多余肋
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0025318
hpo_term: Ovarian carcinoma
chpo_term: 卵巢癌
id: HP:0010618
hpo_term: Ovarian fibroma
chpo_term: 卵巢纤维瘤
id: HP:0010617
hpo_term: Cardiac fibroma
chpo_term: 心脏纤维瘤
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0004795
hpo_term: Hamartomatous stomach polyps
chpo_term: 错构瘤性胃息肉
id: HP:0010610
hpo_term: Palmar pits
chpo_term: 手掌点状隐窝
id: HP:0010612
hpo_term: Plantar pits
chpo_term: 跖部隐窝
id: HP:0008422
hpo_term: Vertebral wedging
chpo_term: 椎体楔形变
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002885
hpo_term: Medulloblastoma
chpo_term: 髓母细胞瘤
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
Disease (OMIM:610478):
RETINAL CONE DYSTROPHY 4
Retinal cone dystrophy 4

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0007814
hpo_term: Retinal pigment epithelial mottling
chpo_term: 视网膜色素上皮斑驳
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:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0007984
hpo_term: Electronegative electroretinogram
chpo_term: 视网膜电流图负波形
id: HP:0000548
hpo_term: Cone/cone-rod dystrophy
chpo_term: 锥杆细胞营养不良
Disease (OMIM:609129):
Auditory neuropathy, autosomal dominant, 1
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1

Associated phenotypes (HPO):
id: HP:0008529
hpo_term: Absence of acoustic reflex
chpo_term: 声反射缺失
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0006958
hpo_term: Abnormal auditory evoked potentials
chpo_term: 听觉诱发电位异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001963
hpo_term: Abnormal speech discrimination
chpo_term: 言语辨别异常
Disease (OMIM:615500):
Ciliary dyskinesia, primary, 26
CILIARY DYSKINESIA, PRIMARY, 26

Associated phenotypes (HPO):
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0033036
hpo_term: Decreased nasal nitric oxide
chpo_term: 鼻腔一氧化氮减低
id: HP:0012207
hpo_term: Reduced sperm motility
chpo_term: 精子活力降低
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0200073
hpo_term: Respiratory insufficiency due to defective ciliary clearance
chpo_term: 纤毛清除缺陷所致呼吸功能不全
id: HP:0012265
hpo_term: Ciliary dyskinesia
chpo_term: 纤毛运动异常
id: HP:0012256
hpo_term: Absent outer dynein arms
chpo_term: 外动力蛋白臂缺失
id: HP:0012384
hpo_term: Rhinitis
chpo_term: 鼻炎
id: HP:0012263
hpo_term: Immotile cilia
chpo_term: 不动纤毛
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0004469
hpo_term: Chronic bronchitis
chpo_term: 慢性支气管炎
Disease (OMIM:613617):
RETINITIS PIGMENTOSA 58
Retinitis pigmentosa 58

Associated phenotypes (HPO):
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0001141
hpo_term: Severely reduced visual acuity
chpo_term: 视力严重下降
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007994
hpo_term: Peripheral visual field loss
chpo_term: 周边视野缺失
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
Disease (OMIM:189200):
Toes, relative length of first and second
TOES, RELATIVE LENGTH OF FIRST AND SECOND

Associated phenotypes (HPO):
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615266):
Hypogonadotropic hypogonadism 17 with or without anosmia
HYPOGONADOTROPIC HYPOGONADISM 17 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:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0004409
hpo_term: Hyposmia
chpo_term: 嗅觉减退
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:140000):
HAND-FOOT-GENITAL SYNDROME
Hand-foot-uterus syndrome

Associated phenotypes (HPO):
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
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:0000041
hpo_term: Chordee
chpo_term: 阴茎下曲
id: HP:0010105
hpo_term: Short first metatarsal
chpo_term: 第一跖骨短
id: HP:0012330
hpo_term: Pyelonephritis
chpo_term: 肾盂肾炎
id: HP:0010034
hpo_term: Short 1st metacarpal
chpo_term: 第一掌骨短
id: HP:0009464
hpo_term: Ulnar deviation of the 2nd finger
chpo_term: 第二指向尺侧偏斜
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:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0001885
hpo_term: Short 2nd toe
chpo_term: 第二趾短小
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0001245
hpo_term: Small thenar eminence
chpo_term: 小鱼际小
id: HP:0003762
hpo_term: Uterus didelphys
chpo_term: 双子宫
id: HP:0000074
hpo_term: Ureteropelvic junction obstruction
chpo_term: 肾盂输尿管连接部梗阻
id: HP:0008080
hpo_term: Hallux varus
chpo_term: 拇趾内翻
id: HP:0010584
hpo_term: Pseudoepiphyses
chpo_term: 假骨骺
id: HP:0008103
hpo_term: Delayed tarsal ossification
chpo_term: 跗骨骨化延迟
id: HP:0008740
hpo_term: Longitudinal vaginal septum
chpo_term: 阴道纵膈
id: HP:0009237
hpo_term: Short 5th finger
chpo_term: 第五指发育不全或不发育
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0001216
hpo_term: Delayed ossification of carpal bones
chpo_term: 腕骨骨化延迟
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:187510):
Tetramelic monodactyly
TETRAMELIC MONODACTYLY

Associated phenotypes (HPO):
id: HP:0004058
hpo_term: Hand monodactyly
chpo_term: 独指手
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0200054
hpo_term: Foot monodactyly
chpo_term: 独趾畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619361):
Angioedema, hereditary, 5
ANGIOEDEMA, HEREDITARY, 5

Associated phenotypes (HPO):
id: HP:0100665
hpo_term: Angioedema
chpo_term: 血管性水肿
id: HP:0033250
hpo_term: Nailfold capillary tortuosity
chpo_term: 甲襞毛细血管曲折
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0030254
hpo_term: Nail bed hemorrhage
chpo_term: 甲床出血
id: HP:0031244
hpo_term: Swollen lip
chpo_term: 嘴唇肿大
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0007514
hpo_term: Edema of the dorsum of hands
chpo_term: 手背水肿
Disease (OMIM:151630):
Lip, median nodule of upper
LIP, MEDIAN NODULE OF UPPER

Associated phenotypes (HPO):
id: HP:0000153
hpo_term: Abnormality of the mouth
chpo_term: 嘴部异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616052):
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7

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:0030046
hpo_term: Hypoglycosylation of alpha-dystroglycan
chpo_term: α-抗肌萎缩蛋白聚糖糖基化不良
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0032341
hpo_term: Reduced forced vital capacity
chpo_term: 用力肺活量降低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006785
hpo_term: Limb-girdle muscular dystrophy
chpo_term: 肢带型肌营养不良症
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:222100):
TYPE 1 DIABETES MELLITUS
Diabetes mellitus, insulin-dependent-1

Associated phenotypes (HPO):
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0001993
hpo_term: Ketoacidosis
chpo_term: 酮症酸中毒
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0410050
hpo_term: Decreased level of 1,5 anhydroglucitol in serum
chpo_term: 血清1,5脱水葡萄糖醇水平降低
id: HP:0000103
hpo_term: Polyuria
chpo_term: 多尿
Disease (OMIM:600630):
UV-SENSITIVE SYNDROME 1
UV-sensitive syndrome 1

Associated phenotypes (HPO):
id: HP:0003224
hpo_term: Increased cellular sensitivity to UV light
chpo_term: 对紫外光的细胞敏感度增强
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001480
hpo_term: Freckling
chpo_term: 雀斑
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007623
hpo_term: Pigmentation anomalies of sun-exposed skin
chpo_term: 曝光部位色素异常
Disease (OMIM:600156):
Hirschsprung disease, susceptibility to, 5
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 5

Associated phenotypes (HPO):
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618719):
Megabladder, congenital
MEGABLADDER, CONGENITAL

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0100611
hpo_term: Multiple glomerular cysts
chpo_term: 多发性肾小球囊肿
id: HP:0010956
hpo_term: Fetal megacystis
chpo_term: 胎儿巨膀胱症
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0004719
hpo_term: Hyperechogenic kidneys
chpo_term: 肾脏回声增强
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0011664
hpo_term: Left ventricular noncompaction cardiomyopathy
chpo_term: 左室致密化不全心肌病
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传