TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:616239):
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
Combined oxidative phosphorylation deficiency 24

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:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002180
hpo_term: Neurodegeneration
chpo_term: 神经变性
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0000097
hpo_term: Focal segmental glomerulosclerosis
chpo_term: 局灶节段性肾小球硬化
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0011923
hpo_term: Decreased activity of mitochondrial complex I
chpo_term: 线粒体复合物I活性降低
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0200114
hpo_term: Metabolic alkalosis
chpo_term: 代谢性碱中毒
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002529
hpo_term: Neuronal loss in central nervous system
chpo_term: 中枢神经系统神经元损失
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
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:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:162091):
Schwannomatosis
SCHWANNOMATOSIS 1

Associated phenotypes (HPO):
id: HP:0009593
hpo_term: Peripheral Schwannoma
chpo_term: 周围神经鞘瘤
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0010302
hpo_term: Spinal cord tumor
chpo_term: 脊髓肿瘤
id: HP:0002858
hpo_term: Meningioma
chpo_term: 脑膜瘤
id: HP:0009588
hpo_term: Vestibular schwannoma
chpo_term: 前庭神经鞘瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613341):
Leber congenital amaurosis 14
LEBER CONGENITAL AMAUROSIS 14

Associated phenotypes (HPO):
id: HP:0000550
hpo_term: Undetectable electroretinogram
chpo_term: 视网膜电流图熄灭型
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
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:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007875
hpo_term: Congenital blindness
chpo_term: 先天性失明
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0000654
hpo_term: Decreased light- and dark-adapted electroretinogram amplitude
chpo_term: 光和暗适应视网膜电图振幅降低
Disease (OMIM:237000):
HYDROXYPROLINEMIA

Associated phenotypes (HPO):
id: HP:0002907
hpo_term: Microscopic hematuria
chpo_term: 镜下血尿症
id: HP:0003260
hpo_term: Hydroxyprolinemia
chpo_term: 羟脯氨酸血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:209850):
AUTISM
Autism susceptibility 1

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003144
hpo_term: Increased serum serotonin
chpo_term: 血清5-羟色胺（血清素）水平升高
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000728
hpo_term: Impaired ability to form peer relationships
chpo_term: 同伴关系建立能力障碍
id: HP:0000723
hpo_term: Restrictive behavior
chpo_term: 限制性行为
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0000758
hpo_term: Abnormal nonverbal communicative behavior
chpo_term: 非言语交际行为异常
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000721
hpo_term: Lack of spontaneous play
chpo_term: 自发性游戏缺乏
id: HP:0000732
hpo_term: Inflexible adherence to routines or rituals
chpo_term: 恪守程序或习惯
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:165098):
Ophthalmoplegia, familial total, with iris transillumination
OPHTHALMOPLEGIA, FAMILIAL TOTAL, WITH IRIS TRANSILLUMINATION

Associated phenotypes (HPO):
id: HP:0007824
hpo_term: Total ophthalmoplegia
chpo_term: 全眼肌麻痹
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0007942
hpo_term: Internal ophthalmoplegia
chpo_term: 眼内肌麻痹
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
Disease (OMIM:300860):
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
Mental retardation, X-linked, syndromic, Nascimento type

Associated phenotypes (HPO):
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0004324
hpo_term: Increased body weight
chpo_term: 体重增加
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0000283
hpo_term: Broad face
chpo_term: 宽脸
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0005590
hpo_term: Spotty hypopigmentation
chpo_term: 点滴状色素减退
id: HP:0010721
hpo_term: Abnormal hair whorl
chpo_term: 毛发异常旋涡式生长
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0007103
hpo_term: Hypointensity of cerebral white matter on MRI
chpo_term: MRI脑白质低信号
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000475
hpo_term: Broad neck
chpo_term: 宽颈
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
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:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0007874
hpo_term: Almond-shaped palpebral fissure
chpo_term: 杏仁状睑裂
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
Disease (OMIM:617899):
Leukodystrophy, hypomyelinating, 14
LEUKODYSTROPHY, HYPOMYELINATING, 14

Associated phenotypes (HPO):
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:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
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:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:618572):
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002057
hpo_term: Prominent glabella
chpo_term: 眉间突出
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0032388
hpo_term: Periventricular nodular heterotopia
chpo_term: 脑室周围结节性异位症
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: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:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
Disease (OMIM:617641):
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0030037
hpo_term: Bifid ureter
chpo_term: 分叉型输尿管
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0040080
hpo_term: Anteverted ears
chpo_term: 前倾耳
id: HP:0004719
hpo_term: Hyperechogenic kidneys
chpo_term: 肾脏回声增强
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0005564
hpo_term: Absence of renal corticomedullary differentiation
chpo_term: 肾皮髓质分界消失
id: HP:0005563
hpo_term: Decreased numbers of nephrons
chpo_term: 肾单位数量减少
id: HP:0000391
hpo_term: Thickened helices
chpo_term: 耳轮增厚
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0008589
hpo_term: Hypoplastic helices
chpo_term: 耳轮发育不全
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
Disease (OMIM:157980):
MOMO SYNDROME
MOMO syndrome

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0001795
hpo_term: Hyperconvex nail
chpo_term: 甲异常凸起
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000480
hpo_term: Retinal coloboma
chpo_term: 视网膜缺损
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:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000679
hpo_term: Taurodontia
chpo_term: 牙髓腔增大
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000879
hpo_term: Short sternum
chpo_term: 短胸骨
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0008577
hpo_term: Underfolded helix
chpo_term: 耳轮卷曲减少
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000625
hpo_term: Eyelid coloboma
chpo_term: 眼睑缺损
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
Disease (OMIM:100600):
ACANTHOSIS NIGRICANS
Acanthosis nigricans

Associated phenotypes (HPO):
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:184500):
Steatocystoma multiplex
STEATOCYSTOMA MULTIPLEX

Associated phenotypes (HPO):
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0012035
hpo_term: Steatocystoma multiplex
chpo_term: 多发性皮脂腺囊瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615042):
Congenital disorder of glycosylation, type Iu
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
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:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0002476
hpo_term: Primitive reflex
chpo_term: 原始反射
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002375
hpo_term: Hypokinesia
chpo_term: 运动减少
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0410362
hpo_term: Decreased O-mannosyl glycans on alpha-dystroglycan
chpo_term: α-肌营养不良蛋白聚糖上O-甘露糖基聚糖减少
id: HP:0003160
hpo_term: Abnormal isoelectric focusing of serum transferrin
chpo_term: 血清转铁蛋白的等电位聚焦异常
id: HP:0012762
hpo_term: Cerebral white matter atrophy
chpo_term: 脑白质萎缩
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:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
Disease (OMIM:615724):
Premature ovarian failure 9
PREMATURE OVARIAN FAILURE 9

Associated phenotypes (HPO):
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0011969
hpo_term: Elevated circulating luteinizing hormone level
chpo_term: 血液黄体生成素水平升高
id: HP:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0008232
hpo_term: Elevated circulating follicle stimulating hormone level
chpo_term: 血液卵泡刺激素水平升高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008724
hpo_term: Hypoplasia of the ovary
chpo_term: 卵巢发育不良
Disease (OMIM:104300):
Alzheimer disease
ALZHEIMER DISEASE

Associated phenotypes (HPO):
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002185
hpo_term: Neurofibrillary tangles
chpo_term: 神经原纤维缠结
id: HP:0410054
hpo_term: Decreased circulating GABA concentration
chpo_term: 循环GABA水平降低
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002423
hpo_term: Long-tract signs
chpo_term: 长束征
id: HP:0002511
hpo_term: Alzheimer disease
chpo_term: 阿尔茨海默病
Disease (OMIM:302905):
ABRUZZO-ERICKSON SYNDROME
Charge-Like syndrome, X-linked

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
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:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
Disease (OMIM:613355):
CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME
Chromosome 17q23.1-q23.2 deletion syndrome

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0010605
hpo_term: Chalazion
chpo_term: 睑板腺囊肿
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0100694
hpo_term: Tibial torsion
chpo_term: 胫骨扭转
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0001466
hpo_term: Contiguous gene syndrome
chpo_term: 邻近基因综合征
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
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:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001684
hpo_term: Secundum atrial septal defect
chpo_term: 第二房间隔缺损
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0010511
hpo_term: Long toe
chpo_term: 长脚趾
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:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001238
hpo_term: Slender finger
chpo_term: 手指细长
Disease (OMIM:180000):
RETINAL ARTERIES, TORTUOSITY OF
Retinal arteries, tortuosity of

Associated phenotypes (HPO):
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000573
hpo_term: Retinal hemorrhage
chpo_term: 视网膜出血
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001136
hpo_term: Retinal arteriolar tortuosity
chpo_term: 视网膜小动脉迂曲
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617133):
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
Spinocerebellar ataxia, autosomal recessive 24

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震