TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:618618):
SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE
Spondyloepiphyseal dysplasia, Nishimura type

Associated phenotypes (HPO):
id: HP:0002663
hpo_term: Delayed epiphyseal ossification
chpo_term: 骨骺骨化延迟
id: HP:0005348
hpo_term: Inspiratory stridor
chpo_term: 吸气性喘鸣
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0003165
hpo_term: Elevated circulating parathyroid hormone level
chpo_term: 血甲状旁腺激素水平升高
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0010230
hpo_term: Cone-shaped epiphyses of the phalanges of the hand
chpo_term: 指骨锥形骨骺
id: HP:0002905
hpo_term: Hyperphosphatemia
chpo_term: 高磷血症
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:272150):
Sugarman brachydactyly
SUGARMAN BRACHYDACTYLY

Associated phenotypes (HPO):
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0005894
hpo_term: Double first metacarpals
chpo_term: 第一掌骨重复
id: HP:0010241
hpo_term: Short proximal phalanx of finger
chpo_term: 近节指骨短小
id: HP:0011926
hpo_term: Proximal placement of hallux
chpo_term: 大拇趾近端异位
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009857
hpo_term: Symphalangism affecting the proximal phalanges of the hand
chpo_term: 近节指关节融合
Disease (OMIM:610244):
SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT
Spastic paraplegia 33, autosomal dominant

Associated phenotypes (HPO):
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:601349):
Microphthalmia, syndromic 8
MICROPHTHALMIA, SYNDROMIC 8

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0100678
hpo_term: Premature skin wrinkling
chpo_term: 皮肤过早起皱
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0001566
hpo_term: Widely-spaced maxillary central incisors
chpo_term: 上颌中切牙牙间隙增宽
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:308830):
Keratosis follicularis, dwarfism, and cerebral atrophy
KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0007439
hpo_term: Generalized keratosis follicularis
chpo_term: 泛发性毛囊角化症
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002298
hpo_term: Absent hair
chpo_term: 毛发缺失
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
Disease (OMIM:619260):
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS

Associated phenotypes (HPO):
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0004586
hpo_term: Biconcave vertebral bodies
chpo_term: 双凹椎体
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0031609
hpo_term: Geographic atrophy
chpo_term: 地图样萎缩
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:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0012765
hpo_term: Widened cerebellar subarachnoid space
chpo_term: 增宽的小脑蛛网膜下腔
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:0040079
hpo_term: Irregular dentition
chpo_term: 牙列不规则
id: HP:0008499
hpo_term: High hypermetropia
chpo_term: 高度远视
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0002318
hpo_term: Cervical myelopathy
chpo_term: 脊髓型颈椎病
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0002655
hpo_term: Spondyloepiphyseal dysplasia
chpo_term: 脊椎骨骺发育不良
id: HP:0000550
hpo_term: Undetectable electroretinogram
chpo_term: 视网膜电流图熄灭型
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0005667
hpo_term: Os odontoideum
chpo_term: 游离齿状突(齿状突小骨)
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0006958
hpo_term: Abnormal auditory evoked potentials
chpo_term: 听觉诱发电位异常
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
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:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0010582
hpo_term: Irregular epiphyses
chpo_term: 不规则骨骺
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: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:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001116
hpo_term: Macular coloboma
chpo_term: 黄斑缺损
Disease (OMIM:614744):
Facial paresis, hereditary congenital, 3
FACIAL PARESIS, HEREDITARY CONGENITAL, 3

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0005216
hpo_term: Impaired mastication
chpo_term: 咀嚼功能受损
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
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:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0007687
hpo_term: Unilateral ptosis
chpo_term: 单侧上睑下垂
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0025312
hpo_term: Esophoria
chpo_term: 内隐斜
id: HP:0030001
hpo_term: Lagopthalmos
chpo_term: 睑裂闭合不全
id: HP:0003680
hpo_term: Nonprogressive
chpo_term: 非进行性
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
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:612335):
Spastic paraplegia 38, autosomal dominant
SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0003392
hpo_term: First dorsal interossei muscle weakness
chpo_term: 第一背侧骨间肌无力
id: HP:0003393
hpo_term: Thenar muscle atrophy
chpo_term: 鱼际肌萎缩
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0003426
hpo_term: First dorsal interossei muscle atrophy
chpo_term: 第一背侧骨间肌萎缩
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0003427
hpo_term: Thenar muscle weakness
chpo_term: 鱼际肌无力
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:619937):
Spermatogenic failure 74
SPERMATOGENIC FAILURE 74

Associated phenotypes (HPO):
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0031038
hpo_term: Spermatogenesis maturation arrest
chpo_term: 生精成熟阻滞
id: HP:0011961
hpo_term: Non-obstructive azoospermia
chpo_term: 非梗阻性无精症
Disease (OMIM:610913):
Surfactant metabolism dysfunction, pulmonary, 2
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2

Associated phenotypes (HPO):
id: HP:0033542
hpo_term: Bronchial wall thickening
chpo_term: 支气管壁增厚
id: HP:0045051
hpo_term: Decreased DLCO
chpo_term: 一氧化碳弥散量减少
id: HP:0033328
hpo_term: Type II pneumocyte hyperplasia
chpo_term: II型肺泡上皮细胞增生
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0032341
hpo_term: Reduced forced vital capacity
chpo_term: 用力肺活量降低
id: HP:0032980
hpo_term: Absent bronchoalveolar surfactant-protein C
chpo_term: 支气管肺泡表面活性剂蛋白C缺乏
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0005942
hpo_term: Desquamative interstitial pneumonitis
chpo_term: 脱屑间质性肺炎
id: HP:0006515
hpo_term: Interstitial pneumonitis
chpo_term: 间质性肺炎
id: HP:0033638
hpo_term: Intralobular septal thickening
chpo_term: 小叶内间隔增厚
id: HP:0006517
hpo_term: Intraalveolar phospholipid accumulation
chpo_term: 肺泡蛋白沉积症
id: HP:0025394
hpo_term: Cystic pattern on pulmonary HRCT
chpo_term: 肺部HRCT可见囊状结构
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0025179
hpo_term: Ground-glass opacification
chpo_term: 毛玻璃样结构
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0033584
hpo_term: Nonspecific interstitial pneumonia
chpo_term: 非特异性间质性肺炎
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0002108
hpo_term: Spontaneous pneumothorax
chpo_term: 自发性气胸
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618397):
Combined oxidative phosphorylation deficiency 39
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39

Associated phenotypes (HPO):
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0012707
hpo_term: Elevated brain lactate level by MRS
chpo_term: MRS发现乳酸水平升高
id: HP:0012708
hpo_term: Reduced brain N-acetyl aspartate level by MRS
chpo_term: 通过MRS发现N-乙酰天门冬氨酸水平降低
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001688
hpo_term: Sinus bradycardia
chpo_term: 窦性心动过缓
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0011924
hpo_term: Decreased activity of mitochondrial complex III
chpo_term: 线粒体复合物III活性降低
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0034392
hpo_term: Joint contracture
chpo_term: 关节挛缩
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0002803
hpo_term: Congenital contracture
chpo_term: 先天性挛缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0008347
hpo_term: Decreased activity of mitochondrial complex IV
chpo_term: 线粒体复合物IV活性降低
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
Disease (OMIM:608184):
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4
Immunodeficiency with hyper-IgM, type 4

Associated phenotypes (HPO):
id: HP:0004798
hpo_term: Recurrent infection of the gastrointestinal tract
chpo_term: 胃肠道复发性感染
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0002849
hpo_term: Absence of lymph node germinal center
chpo_term: 淋巴结生发中心缺失
id: HP:0002959
hpo_term: Impaired Ig class switch recombination
chpo_term: 免疫球蛋白类别转换重组障碍
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
Disease (OMIM:174770):
Actinic prurigo
ACTINIC PRURIGO

Associated phenotypes (HPO):
id: HP:0000099
hpo_term: Glomerulonephritis
chpo_term: 肾小球肾炎
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0100825
hpo_term: Cheilitis
chpo_term: 唇炎
id: HP:0000999
hpo_term: Pyoderma
chpo_term: 脓皮病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:215450):
CHOREA, BENIGN FAMILIAL
Chorea, benign familial

Associated phenotypes (HPO):
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:300049):
PERIVENTRICULAR NODULAR HETEROTOPIA 1
Heterotopia, periventricular, X-linked dominant

Associated phenotypes (HPO):
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0033606
hpo_term: Bone marrow maturation arrest
chpo_term: 骨髓成熟停滞
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
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:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
Disease (OMIM:618383):
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69
Intellectual developmental disorder, autosomal recessive 69

Associated phenotypes (HPO):
id: HP:0000297
hpo_term: Facial hypotonia
chpo_term: 面部肌张力低下
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0430028
hpo_term: Hyperplasia of the maxilla
chpo_term: 上颌骨增生
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:620152):
HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY
Hypomagnesemia 7, renal, with or without dilated cardiomyopathy

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001281
hpo_term: Tetany
chpo_term: 手足抽搐
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0034307
hpo_term: Elevated left ventricular end-diastolic diameter
chpo_term: 左心室舒张末期内径升高
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0002917
hpo_term: Hypomagnesemia
chpo_term: 低镁血症
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0000103
hpo_term: Polyuria
chpo_term: 多尿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:167730):
Nasopalpebral lipoma-coloboma syndrome
NASOPALPEBRAL LIPOMA-COLOBOMA SYNDROME

Associated phenotypes (HPO):
id: HP:0030953
hpo_term: Conjunctival hyperemia
chpo_term: 结膜充血
id: HP:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0010748
hpo_term: Ectopic lacrimal punctum
chpo_term: 泪点异位
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001092
hpo_term: Absent lacrimal punctum
chpo_term: 泪小点缺失
id: HP:0010566
hpo_term: Hamartoma
chpo_term: 错构瘤
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0040164
hpo_term: Lipomas of eyelids
chpo_term: 眼睑脂肪瘤
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000349
hpo_term: Widow's peak
chpo_term: 美人尖
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000636
hpo_term: Upper eyelid coloboma
chpo_term: 上眼睑缺损
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000652
hpo_term: Lower eyelid coloboma
chpo_term: 下眼睑缺损
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳