TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:617260):
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
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:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0030048
hpo_term: Colpocephaly
chpo_term: 枕角扩大畸形
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:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0001718
hpo_term: Mitral stenosis
chpo_term: 二尖瓣狭窄
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
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:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:608340):
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A
Charcot-Marie-Tooth disease, recessive intermediate A

Associated phenotypes (HPO):
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0001178
hpo_term: Ulnar claw
chpo_term: 尺侧爪形手
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0033685
hpo_term: Fiber type grouping
chpo_term: 纤维类型分组
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0034045
hpo_term: Angulated muscle fibers
chpo_term: 成角的肌纤维
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003445
hpo_term: EMG: neuropathic changes
chpo_term: 肌电图：神经源性变化
id: HP:0003387
hpo_term: Decreased number of large peripheral myelinated nerve fibers
chpo_term: 大的周围有髓鞘神经纤维数量减少
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
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:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0003383
hpo_term: Onion bulb formation
chpo_term: 洋葱球形成
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:605670):
Retinal degeneration, late-onset, autosomal dominant
LATE-ONSET RETINAL DEGENERATION

Associated phenotypes (HPO):
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0011506
hpo_term: Choroidal neovascularization
chpo_term: 脉络膜新生血管
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0031531
hpo_term: Sub-RPE deposits
chpo_term: 视网膜色素上皮下沉积物
id: HP:0007830
hpo_term: Adult-onset night blindness
chpo_term: 成人发病夜盲症
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000575
hpo_term: Scotoma
chpo_term: 盲点
id: HP:0200065
hpo_term: Chorioretinal degeneration
chpo_term: 脉络膜视网膜变性
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619259):
NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY
Neurodegeneration with ataxia and late-onset optic atrophy

Associated phenotypes (HPO):
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0001686
hpo_term: Loss of voice
chpo_term: 失声
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012534
hpo_term: Dysesthesia
chpo_term: 感觉障碍
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0007994
hpo_term: Peripheral visual field loss
chpo_term: 周边视野缺失
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0006568
hpo_term: Increased hepatic glycogen content
chpo_term: 肝糖原含量增高
id: HP:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症
Disease (OMIM:618147):
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
Intellectual developmental disorder with hypertelorism and distinctive facies

Associated phenotypes (HPO):
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0012801
hpo_term: Narrow jaw
chpo_term: 窄下颌
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0045074
hpo_term: Thin eyebrow
chpo_term: 细眉
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
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:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0009928
hpo_term: Thick nasal alae
chpo_term: 鼻翼增厚
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0012434
hpo_term: Delayed social development
chpo_term: 社交发育迟缓
id: HP:0100023
hpo_term: Recurrent hand flapping
chpo_term: 反复用手拍打
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:608354):
Capillary malformation-arteriovenous malformation 1
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1

Associated phenotypes (HPO):
id: HP:0100026
hpo_term: Arteriovenous malformation
chpo_term: 动静脉畸形
id: HP:0025104
hpo_term: Capillary malformation
chpo_term: 毛细血管畸形
id: HP:0004947
hpo_term: Arteriovenous fistula
chpo_term: 动静脉瘘
id: HP:0005306
hpo_term: Capillary hemangioma
chpo_term: 毛细血管瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:601370):
Holoprosencephaly, semilobar, with craniosynostosis
HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS

Associated phenotypes (HPO):
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0004443
hpo_term: Lambdoidal craniosynostosis
chpo_term: 人字缝早闭
id: HP:0004440
hpo_term: Coronal craniosynostosis
chpo_term: 冠状缝早闭
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0002507
hpo_term: Semilobar holoprosencephaly
chpo_term: 半脑叶前脑无裂畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008479
hpo_term: Hypoplastic vertebral bodies
chpo_term: 椎体发育不良
Disease (OMIM:102350):
ACROMIAL DIMPLES
Acromial dimples

Associated phenotypes (HPO):
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
Disease (OMIM:221900):
Persistent hyperplastic primary vitreous, autosomal recessive
PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0000594
hpo_term: Shallow anterior chamber
chpo_term: 浅前房
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0007968
hpo_term: Remnants of the hyaloid vascular system
chpo_term: 玻璃体血管系统残留
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0009917
hpo_term: Persistent pupillary membrane
chpo_term: 瞳孔膜存留
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0011886
hpo_term: Hyphema
chpo_term: 前房积血
id: HP:0008052
hpo_term: Retinal fold
chpo_term: 视网膜皱襞
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0011484
hpo_term: Posterior synechiae of the anterior chamber
chpo_term: 虹膜后粘连
id: HP:0012043
hpo_term: Pendular nystagmus
chpo_term: 钟摆样眼球震颤
id: HP:0032287
hpo_term: Ultra-low vision with no light perception
chpo_term: 无光感的极低视力
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000667
hpo_term: Phthisis bulbi
chpo_term: 眼萎缩
id: HP:0000557
hpo_term: Buphthalmos
chpo_term: 爆裂眼
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:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0007899
hpo_term: Retinal nonattachment
chpo_term: 视网膜无附着
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000555
hpo_term: Leukocoria
chpo_term: 白瞳症
Disease (OMIM:614594):
OLMSTED SYNDROME 1
Olmsted syndrome 1

Associated phenotypes (HPO):
id: HP:0002289
hpo_term: Alopecia universalis
chpo_term: 全身毛发脱失
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0034521
id: HP:0040162
hpo_term: Orthokeratosis
chpo_term: 正角化
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008392
hpo_term: Subungual hyperkeratosis
chpo_term: 甲下角化过度
id: HP:0007460
hpo_term: Autoamputation of digits
chpo_term: 手指（足趾）自发性离断
id: HP:0009775
hpo_term: Amniotic constriction ring
chpo_term: 羊膜带狭窄环
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0040009
hpo_term: Hyperparakeratosis
chpo_term: 过度角化不全
Disease (OMIM:256550):
NEURAMINIDASE DEFICIENCY
Neuraminidase deficiency

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
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:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0010729
hpo_term: Cherry red spot of the macula
chpo_term: 黄斑樱桃红斑
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:6000911
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:0001922
hpo_term: Vacuolated lymphocytes
chpo_term: 空泡淋巴细胞
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
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:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0004333
hpo_term: Bone-marrow foam cells
chpo_term: 骨髓泡沫细胞
id: HP:0003461
hpo_term: Increased urinary O-linked sialopeptides
chpo_term: 尿液唾液酸肽增加
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0010655
hpo_term: Epiphyseal stippling
chpo_term: 骨骺点状钙化
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000943
hpo_term: Dysostosis multiplex
chpo_term: 多发性骨发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0012061
hpo_term: Urinary excretion of sialylated oligosaccharides
chpo_term: 唾液酸化寡聚糖的尿排泄
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:620157):
Intellectual developmental disorder, autosomal dominant 70
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70

Associated phenotypes (HPO):
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0005490
hpo_term: Postnatal macrocephaly
chpo_term: 出生后巨头畸形
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0007763
hpo_term: Retinal telangiectasia
chpo_term: 视网膜毛细血管扩张
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
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: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:0000276
hpo_term: Long face
chpo_term: 长脸
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:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0007099
hpo_term: Chiari type I malformation
chpo_term: 小脑扁桃体下疝畸形（Chiari I 型畸形）
id: HP:0000629
hpo_term: Periorbital fullness
chpo_term: 眶周丰满
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:603956):
Cervical cancer
CERVICAL CANCER

Associated phenotypes (HPO):
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0030079
hpo_term: Cervix cancer
chpo_term: 宫颈癌
Disease (OMIM:602484):
PELVIC HYPOPLASIA WITH LOWER-LIMB ARTHROGRYPOSIS
Pelvic dysplasia - arthrogryposis of lower limbs

Associated phenotypes (HPO):
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0012894
hpo_term: Paraspinal muscle hypertrophy
chpo_term: 椎旁肌肥大
id: HP:0003275
hpo_term: Narrow pelvis bone
chpo_term: 骨盆狭窄
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0005745
hpo_term: Congenital foot contractures
chpo_term: 先天性足挛缩
Disease (OMIM:228930):
FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY
Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly

Associated phenotypes (HPO):
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0009380
hpo_term: Aplasia of the fingers
chpo_term: 手指发育不全
id: HP:0001849
hpo_term: Foot oligodactyly
chpo_term: 少趾畸形
id: HP:0006492
hpo_term: Aplasia/Hypoplasia of the fibula
chpo_term: 腓骨发育不良/发育不全
id: HP:0009465
hpo_term: Ulnar deviation of finger
chpo_term: 手指尺侧偏斜
id: HP:0006495
hpo_term: Aplasia/Hypoplasia of the ulna
chpo_term: 尺骨发育不良/发育不全
id: HP:0001802
hpo_term: Absent toenail
chpo_term: 趾甲缺损
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0009767
hpo_term: Aplasia/Hypoplasia of the phalanges of the hand
chpo_term: 指骨发育不良/发育不全
id: HP:0001964
hpo_term: Aplasia/Hypoplasia of metatarsal bones
chpo_term: 跖骨发育不良/发育不全
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0008839
hpo_term: Hypoplastic pelvis
chpo_term: 骨盆发育不良
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0002990
hpo_term: Fibular aplasia
chpo_term: 腓骨发育不良
id: HP:0006262
hpo_term: Aplasia/Hypoplasia of the 5th finger
chpo_term: 第五指发育不良/发育不全
id: HP:0006143
hpo_term: Abnormal finger flexion creases
chpo_term: 手指屈曲褶痕异常
id: HP:0006265
hpo_term: Aplasia/Hypoplasia of fingers
chpo_term: 手指发育不良/发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006443
hpo_term: Patellar aplasia
chpo_term: 髌骨发育不全
id: HP:0005914
hpo_term: Aplasia/Hypoplasia involving the metacarpal bones
chpo_term: 掌骨发育不全或发育低下
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲
id: HP:0002866
hpo_term: Hypoplastic iliac wing
chpo_term: 髂翼发育不全
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0005613
hpo_term: Aplasia/hypoplasia of the femur
chpo_term: 股骨发育不良/发育不全
Disease (OMIM:300716):
Mental retardation, X-linked 95
MENTAL RETARDATION, X-LINKED 95

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:160700):
MYOPIA 2, AUTOSOMAL DOMINANT
Myopia 2, autosomal dominant

Associated phenotypes (HPO):
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618392):
Spondyloepiphyseal dysplasia, Kondo-Fu type
SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
id: HP:6000819
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0001216
hpo_term: Delayed ossification of carpal bones
chpo_term: 腕骨骨化延迟
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0002655
hpo_term: Spondyloepiphyseal dysplasia
chpo_term: 脊椎骨骺发育不良