TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:614203):
Parkinson disease 17
PARKINSON DISEASE 17

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:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002304
hpo_term: Akinesia
chpo_term: 运动不能
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
Disease (OMIM:614565):
Night blindness, congenital stationary, type 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
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:0007642
hpo_term: Congenital stationary night blindness
chpo_term: 先天性静止性夜盲症
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
Disease (OMIM:270200):
SJOGREN-LARSSON SYNDROME
Sjogren-Larsson syndrome

Associated phenotypes (HPO):
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
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:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
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:0007722
hpo_term: Retinal pigment epithelial atrophy
chpo_term: 视网膜色素上皮萎缩
id: HP:0007305
hpo_term: CNS demyelination
chpo_term: 中枢神经系统脱髓鞘
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0030501
hpo_term: Macular crystals
chpo_term: 黄斑结晶
id: HP:0007727
hpo_term: Opacification of the corneal epithelium
chpo_term: 角膜上皮混浊
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0031717
hpo_term: Alternating exotropia
chpo_term: 交替性外斜视
id: HP:6000720
id: HP:0032028
hpo_term: Macular dots
chpo_term: 点状黄斑病变
id: HP:0030329
hpo_term: Retinal thinning
chpo_term: 视网膜变薄
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002942
hpo_term: Thoracic kyphosis
chpo_term: 胸椎后凸
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:619041):
MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2
Monosomy 7 myelodysplasia and leukemia syndrome 2

Associated phenotypes (HPO):
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0004808
hpo_term: Acute myeloid leukemia
chpo_term: 急性髓性白血病
id: HP:0005518
hpo_term: Increased mean corpuscular volume
chpo_term: 平均红细胞体积增加
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
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:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0031689
hpo_term: Megakaryocyte dysplasia
chpo_term: 巨核细胞发育不良
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:620818):
MHC class II deficiency 5
MHC CLASS II DEFICIENCY 5

Associated phenotypes (HPO):
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0031390
hpo_term: Reduced MHC II surface expression
chpo_term: 表面MHC-II表达降低
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: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:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
Disease (OMIM:182990):
Spinal intradural arachnoid cysts
SPINAL INTRADURAL ARACHNOID CYSTS

Associated phenotypes (HPO):
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0010550
hpo_term: Paraplegia
chpo_term: 截瘫
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:600510):
GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME
Glaucoma-Related pigment dispersion syndrome

Associated phenotypes (HPO):
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0012108
hpo_term: Open angle glaucoma
chpo_term: 开角型青光眼
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:601626):
Leukemia, acute myeloid
LEUKEMIA, ACUTE MYELOID

Associated phenotypes (HPO):
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0004808
hpo_term: Acute myeloid leukemia
chpo_term: 急性髓性白血病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620830):
Auroneurodental syndrome

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
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:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003327
hpo_term: Axial muscle weakness
chpo_term: 中轴肌无力
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000699
hpo_term: Diastema
chpo_term: 牙间隙
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0025372
hpo_term: Loud snoring
chpo_term: 鼾声大
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:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0034295
hpo_term: Reduced cerebral white matter volume
chpo_term: 脑白质容积减少
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:0006342
hpo_term: Peg-shaped maxillary lateral incisors
chpo_term: 钉形上颌侧切牙
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:617044):
Short stature, developmental delay, and congenital heart defects
SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
Disease (OMIM:275350):
Transcobalamin II deficiency
TRANSCOBALAMIN II DEFICIENCY

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
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:0002160
hpo_term: Hyperhomocystinemia
chpo_term: 高同型半胱氨酸血症
id: HP:0012133
hpo_term: Erythroid hypoplasia
chpo_term: 红系发育不良
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
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
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0001980
hpo_term: Megaloblastic bone marrow
chpo_term: 巨幼细胞性骨髓
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0040126
hpo_term: Abnormal vitamin B12 level
chpo_term: 血清钴胺素异常
id: HP:0040087
hpo_term: Abnormal blood folate concentration
chpo_term: 血液叶酸异常
id: HP:0012120
hpo_term: Methylmalonic aciduria
chpo_term: 甲基丙二酸尿症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001896
hpo_term: Reticulocytopenia
chpo_term: 网织细胞减少症
id: HP:0001972
hpo_term: Macrocytic anemia
chpo_term: 大细胞性贫血
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:119540):
CLEFT PALATE, ISOLATED
Cleft palate, isolated

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0011094
hpo_term: Increased overbite
chpo_term: 过咬合
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0009102
hpo_term: Anterior open-bite malocclusion
chpo_term: 前牙开咬错位咬合畸形
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
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
Disease (OMIM:615135):
Maple syrup urine disease, mild variant
MAPLE SYRUP URINE DISEASE, MILD VARIANT

Associated phenotypes (HPO):
id: HP:0010913
hpo_term: Hyperisoleucinemia
chpo_term: 高异亮氨酸血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0010911
hpo_term: Hyperleucinemia
chpo_term: 高亮氨酸血症
Disease (OMIM:613544):
Chromosome 6q11-q14 deletion syndrome
CHROMOSOME 6q11-q14 DELETION SYNDROME

Associated phenotypes (HPO):
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:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
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:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
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:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
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:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:271650):
Spondyloepimetaphyseal dysplasia, Irapa type
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE

Associated phenotypes (HPO):
id: HP:0003521
hpo_term: Disproportionate short-trunk short stature
chpo_term: 不成比例的短躯干性矮小
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0002651
hpo_term: Spondyloepimetaphyseal dysplasia
chpo_term: 脊椎干骺端发育不良
id: HP:0001241
hpo_term: Capitate-hamate fusion
chpo_term: 头状骨-钩骨融合
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0004590
hpo_term: Hypoplastic sacrum
chpo_term: 骶骨发育不全
id: HP:0100255
hpo_term: Metaphyseal dysplasia
chpo_term: 干骺端发育不良
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000920
hpo_term: Enlargement of the costochondral junction
chpo_term: 肋软骨交界处膨大
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0001769
hpo_term: Broad foot
chpo_term: 宽足
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0001169
hpo_term: Broad palm
chpo_term: 宽掌
id: HP:0009824
hpo_term: Upper limb undergrowth
chpo_term: 上肢发育不良
Disease (OMIM:268315):
ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
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:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0007994
hpo_term: Peripheral visual field loss
chpo_term: 周边视野缺失
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
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:0001994
hpo_term: Renal Fanconi syndrome
chpo_term: 肾范可尼综合征
Disease (OMIM:613550):
Nephronophthisis 11
NEPHRONOPHTHISIS 11

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0009916
hpo_term: Anisocoria
chpo_term: 瞳孔不等
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005583
hpo_term: Tubular basement membrane disintegration
chpo_term: 肾小管基底膜解体
id: HP:0000090
hpo_term: Nephronophthisis
chpo_term: 肾结核
id: HP:0000092
hpo_term: Renal tubular atrophy
chpo_term: 肾小管萎缩
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
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:0000108
hpo_term: Renal corticomedullary cysts
chpo_term: 肾皮髓质交界处囊肿
id: HP:0000103
hpo_term: Polyuria
chpo_term: 多尿
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
Disease (OMIM:609508):
Stickler sydrome, type I, nonsyndromic ocular
STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0030663
hpo_term: Optically empty vitreous
chpo_term: 光空型玻璃体
id: HP:0012230
hpo_term: Rhegmatogenous retinal detachment
chpo_term: 孔源性视网膜脱离
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
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:616428):
Microphthalmia, isolated, with coloboma 10
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10

Associated phenotypes (HPO):
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0034567
id: HP:0025492
hpo_term: Microcoria
chpo_term: 小瞳孔
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
Disease (OMIM:601154):
Cardiomyopathy, dilated, 1E
CARDIOMYOPATHY, DILATED, 1E

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0025478
hpo_term: Atrial standstill
chpo_term: 心房静止
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0011712
hpo_term: Right bundle branch block
chpo_term: 右束支传导阻滞
id: HP:0011713
hpo_term: Left bundle branch block
chpo_term: 左束支传导阻滞
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0006682
hpo_term: Premature ventricular contraction
chpo_term: 室性期前收缩
id: HP:0006673
hpo_term: Reduced systolic function
chpo_term: 心收缩功能降低
id: HP:0004749
hpo_term: Atrial flutter
chpo_term: 心房扑动
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0006699
hpo_term: Premature atrial contractions
chpo_term: 房性早搏
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0004755
hpo_term: Supraventricular tachycardia
chpo_term: 室上性心动过速
Disease (OMIM:235760):
Hirschsprung disease with hypoplastic nails and dysmorphic facialfeatures
HIRSCHSPRUNG DISEASE WITH HYPOPLASTIC NAILS AND DYSMORPHIC FACIAL FEATURES

Associated phenotypes (HPO):
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
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:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:617050):
HERMANSKY-PUDLAK SYNDROME 10
Hermansky-Pudlak syndrome 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:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
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: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:0011166
hpo_term: Focal myoclonic seizure
chpo_term: 局灶性肌阵挛发作
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
id: HP:0001107
hpo_term: Ocular albinism
chpo_term: 眼白化病
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0001022
hpo_term: Albinism
chpo_term: 白化病
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症