TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:614082):
Fanconi anemia, complementation group G
FANCONI ANEMIA, COMPLEMENTATION GROUP G

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001909
hpo_term: Leukemia
chpo_term: 白血病
id: HP:0003220
hpo_term: Abnormality of chromosome stability
chpo_term: 染色体稳定性异常
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001172
hpo_term: Abnormal thumb morphology
chpo_term: 拇指形态异常
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:620327):
Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES

Associated phenotypes (HPO):
id: HP:0002267
hpo_term: Exaggerated startle response
chpo_term: 过度惊跳反射
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:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0032398
hpo_term: Dysgyria
chpo_term: 脑回形态异常
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
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:0007068
hpo_term: Inferior cerebellar vermis hypoplasia
chpo_term: 下小脑蚓发育不全
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0003121
hpo_term: Limb joint contracture
chpo_term: 肢体关节挛缩
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
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:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:617560):
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0033747
hpo_term: Abnormal exteroceptive sensation
chpo_term: 感受外界刺激异常
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0007941
hpo_term: Limited extraocular movements
chpo_term: 眼球运动受限
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0002599
hpo_term: Head titubation
chpo_term: 点头
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0025331
hpo_term: Upgaze palsy
chpo_term: 向上凝视麻痹
id: HP:0000571
hpo_term: Hypometric saccades
chpo_term: 扫视不到位
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0034392
hpo_term: Joint contracture
chpo_term: 关节挛缩
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:618653):
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
Intellectual developmental disorder with impaired language and dysmorphic facies

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0100694
hpo_term: Tibial torsion
chpo_term: 胫骨扭转
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
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:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
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:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0004409
hpo_term: Hyposmia
chpo_term: 嗅觉减退
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0000125
hpo_term: Pelvic kidney
chpo_term: 盆腔肾
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:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0009916
hpo_term: Anisocoria
chpo_term: 瞳孔不等
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0031014
hpo_term: Arteria lusoria
chpo_term: 压迫性动脉
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (OMIM:615377):
ATRIAL FIBRILLATION, FAMILIAL, 13
Atrial fibrillation, familial, 13

Associated phenotypes (HPO):
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0031295
hpo_term: Left atrial enlargement
chpo_term: 左心房增大
id: HP:0004757
hpo_term: Paroxysmal atrial fibrillation
chpo_term: 阵发性房颤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613706):
NOONAN SYNDROME 7
Noonan syndrome 7

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001054
hpo_term: Numerous nevi
chpo_term: 多发性色素痣
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0030939
hpo_term: Palpebral thickening
chpo_term: 眼睑增厚
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0006191
hpo_term: Deep palmar crease
chpo_term: 掌褶纹深
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000914
hpo_term: Shield chest
chpo_term: 盾状胸
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
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:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0009748
hpo_term: Large earlobe
chpo_term: 大耳垂
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002212
hpo_term: Curly hair
chpo_term: 卷曲样发
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000391
hpo_term: Thickened helices
chpo_term: 耳轮增厚
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0002031
hpo_term: Abnormal esophagus morphology
chpo_term: 食管形态结构异常
id: HP:0012059
hpo_term: Lentigo maligna melanoma
chpo_term: 恶性雀斑样黑色素瘤
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0011470
hpo_term: Nasogastric tube feeding in infancy
chpo_term: 婴儿期鼻胃管饲
id: HP:0031162
hpo_term: Impaired oropharyngeal swallow response
chpo_term: 吞咽反应障碍
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0000306
hpo_term: Abnormality of the chin
chpo_term: 下巴异常
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
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
Disease (OMIM:614069):
Immunodeficiency-Centromeric instability-facial anomalies syndrome2
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2

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:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0020102
hpo_term: Pneumocystis jirovecii pneumonia
chpo_term: 肺孢子菌肺炎
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0005401
hpo_term: Recurrent candida infections
chpo_term: 反复念珠菌感染
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
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:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0004469
hpo_term: Chronic bronchitis
chpo_term: 慢性支气管炎
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (OMIM:613060):
Epilepsy, idiopathic generalized, 10
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
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: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:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:211480):
BUERGER DISEASE
Buerger disease

Associated phenotypes (HPO):
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0009763
hpo_term: Limb pain
chpo_term: 肢体疼痛
Disease (OMIM:615411):
Cortical dysplasia, complex, with other brain malformations 3
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3

Associated phenotypes (HPO):
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0032409
hpo_term: Subcortical band heterotopia
chpo_term: 皮层下带异位症
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0031882
hpo_term: Agyria
chpo_term: 无脑回畸型
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0002539
hpo_term: Cortical dysplasia
chpo_term: 皮质发育不良
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616118):
MACULAR DEGENERATION, EARLY-ONSET
Macular degeneration, early-onset

Associated phenotypes (HPO):
id: HP:0011506
hpo_term: Choroidal neovascularization
chpo_term: 脉络膜新生血管
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0011842
hpo_term: Abnormal skeletal morphology
chpo_term: 骨骼形态异常
Disease (OMIM:607015):
HURLER-SCHEIE SYNDROME
Hurler-Scheie syndrome

Associated phenotypes (HPO):
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003393
hpo_term: Thenar muscle atrophy
chpo_term: 鱼际肌萎缩
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0002777
hpo_term: Tracheal stenosis
chpo_term: 气管狭窄
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0002159
hpo_term: Heparan sulfate excretion in urine
chpo_term: 尿中硫酸乙酰肝素排泄
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000943
hpo_term: Dysostosis multiplex
chpo_term: 多发性骨发育不全
id: HP:0008301
hpo_term: Dermatan sulfate excretion in urine
chpo_term: 尿液中硫酸皮肤素排泄
id: HP:0009697
hpo_term: Contracture of the distal interphalangeal joint of the fingers
chpo_term: 远端指关节挛缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0046505
hpo_term: Hand pain
chpo_term: 手部疼痛
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:618135):
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8

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:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:223340):
DK PHOCOMELIA SYNDROME
Dk phocomelia syndrome

Associated phenotypes (HPO):
id: HP:0009829
hpo_term: Phocomelia
chpo_term: 短肢畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
Disease (OMIM:175800):
Porokeratosis 1, multiple types
POROKERATOSIS 1, MULTIPLE TYPES

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0200044
hpo_term: Porokeratosis
chpo_term: 汗孔角化病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:122780):
Coxoauricular syndrome
COXOAURICULAR SYNDROME

Associated phenotypes (HPO):
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:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613074):
DEAFNESS, AUTOSOMAL DOMINANT 50
Deafness, autosomal dominant 50

Associated phenotypes (HPO):
id: HP:0000408
hpo_term: Progressive sensorineural hearing impairment
chpo_term: 渐进性感音神经性听力损失
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0001730
hpo_term: Progressive hearing impairment
chpo_term: 渐进性听力损失
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:186750):
Talonavicular coalition
TALONAVICULAR COALITION

Associated phenotypes (HPO):
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
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:0025238
hpo_term: Foot pain
chpo_term: 足痛
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0005802
hpo_term: Coalescence of tarsal bones
chpo_term: 跗骨融合
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003028
hpo_term: Abnormality of the ankles
chpo_term: 脚踝异常
Disease (OMIM:615363):
ESTROGEN RESISTANCE
Estrogen resistance

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0031428
hpo_term: Increased circulating osteocalcin level
chpo_term: 循环骨钙素水平升高
id: HP:0010639
hpo_term: Elevated alkaline phosphatase of bone origin
chpo_term: 骨源性碱性磷酸酶升高
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0025134
hpo_term: Increased serum estradiol
chpo_term: 血清雌二醇增多
id: HP:0040270
hpo_term: Impaired glucose tolerance
chpo_term: 葡萄糖耐量下降
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0100783
hpo_term: Breast aplasia
chpo_term: 乳房发育不全
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0001952
hpo_term: Glucose intolerance
chpo_term: 糖耐量异常
Disease (OMIM:613712):
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
Hirschsprung disease, susceptibility to, 4

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
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:617574):
Ichthyosis, congenital, autosomal recessive 13
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0025114
hpo_term: Hypergranulosis
chpo_term: 颗粒层增厚
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0012203
hpo_term: Onychomycosis
chpo_term: 甲癣
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度