TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:98963):
Granular-lattice corneal dystrophy
Granular corneal dystrophy type II
GCD2
Granular corneal dystrophy type 2
Avellino corneal dystrophy
GCDII

Associated phenotypes (HPO):
id: HP:0000531
hpo_term: Corneal crystals
chpo_term: 角膜结晶
id: HP:0007802
hpo_term: Granular corneal dystrophy
chpo_term: 颗粒状角膜营养不良
id: HP:0011493
hpo_term: Central opacification of the cornea
chpo_term: 角膜的中央混浊
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0008039
hpo_term: Subepithelial corneal opacities
chpo_term: 上皮下角膜混浊
id: HP:0000495
hpo_term: Recurrent corneal erosions
chpo_term: 复发性角膜糜烂
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
Disease (ORPHA:98964):
Lattice corneal dystrophy type 1
LCDI
Biber-Haab-Dimmer dystrophy
LCD1
Classic lattice corneal dystrophy
Lattice corneal dystrophy type I

Associated phenotypes (HPO):
id: HP:0000481
hpo_term: Abnormal cornea morphology
chpo_term: 角膜形态异常
id: HP:0000559
hpo_term: Corneal scarring
chpo_term: 角膜瘢痕
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0001149
hpo_term: Lattice corneal dystrophy
chpo_term: 格子样角膜营养不良
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0011493
hpo_term: Central opacification of the cornea
chpo_term: 角膜的中央混浊
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000495
hpo_term: Recurrent corneal erosions
chpo_term: 复发性角膜糜烂
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0008039
hpo_term: Subepithelial corneal opacities
chpo_term: 上皮下角膜混浊
id: HP:0012040
hpo_term: Corneal stromal edema
chpo_term: 角膜基质水肿
id: HP:0025337
hpo_term: Red eye
chpo_term: 红眼
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
id: HP:0007924
hpo_term: Slow decrease in visual acuity
chpo_term: 视力缓慢下降
id: HP:0008511
hpo_term: Central posterior corneal opacity
chpo_term: 中央后角膜混浊
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0012155
hpo_term: Decreased corneal sensation
chpo_term: 角膜感觉减退
Disease (ORPHA:98960):
Corneal dystrophy of Bowman layer type 2
Thiel-Behnke corneal dystrophy
Anterior limiting membrane dystrophy type 2
Curly fiber corneal dystrophy
Honeycomb corneal dystrophy
Corneal dystrophy of Bowman layer type II
Waardenburg-Jonker corneal dystrophy
TBCD
Anterior limiting membrane dystrophy type II

Associated phenotypes (HPO):
id: HP:0007881
hpo_term: Central corneal dystrophy
chpo_term: 中央角膜营养不良
id: HP:0007924
hpo_term: Slow decrease in visual acuity
chpo_term: 视力缓慢下降
id: HP:0008039
hpo_term: Subepithelial corneal opacities
chpo_term: 上皮下角膜混浊
id: HP:0000495
hpo_term: Recurrent corneal erosions
chpo_term: 复发性角膜糜烂
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0032148
hpo_term: Episodic pain
chpo_term: 阵发性疼痛
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
Disease (ORPHA:93271):
Short rib-polydactyly syndrome type 3
Short rib-polydactyly syndrome, Verma-Naumoff type

Associated phenotypes (HPO):
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0005716
hpo_term: Lethal skeletal dysplasia
chpo_term: 致死性骨骼发育不良
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0009106
hpo_term: Abnormal pelvis bone ossification
chpo_term: 骨盆骨骨化异常
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002612
hpo_term: Congenital hepatic fibrosis
chpo_term: 先天性肝纤维化
id: HP:0003762
hpo_term: Uterus didelphys
chpo_term: 双子宫
id: HP:0004599
hpo_term: Absent or minimally ossified vertebral bodies
chpo_term: 椎体缺如或低骨化
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008716
hpo_term: Urethrovaginal fistula
chpo_term: 尿道阴道瘘
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0002006
hpo_term: Facial cleft
chpo_term: 面裂
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002032
hpo_term: Esophageal atresia
chpo_term: 食管闭锁
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0004397
hpo_term: Ectopic anus
chpo_term: 肛门异位
id: HP:0010297
hpo_term: Bifid tongue
chpo_term: 舌裂
id: HP:0010564
hpo_term: Bifid epiglottis
chpo_term: 会厌分叉
Disease (ORPHA:1074):
Ankyloblepharon filiforme adnatum-imperforate anus syndrome
Aughton-Hufnagle syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0009755
hpo_term: Ankyloblepharon
chpo_term: 睑缘粘连
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
Disease (ORPHA:1072):
Ankyloblepharon filiforme adnatum-cleft palate syndrome

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0009755
hpo_term: Ankyloblepharon
chpo_term: 睑缘粘连
id: HP:0009775
hpo_term: Amniotic constriction ring
chpo_term: 羊膜带狭窄环
id: HP:0100267
hpo_term: Lip pit
chpo_term: 唇点凹
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
Disease (ORPHA:1071):
AEC syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Hay-Wells syndrome

Associated phenotypes (HPO):
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0001795
hpo_term: Hyperconvex nail
chpo_term: 甲异常凸起
id: HP:0001810
hpo_term: Dystrophic toenail
chpo_term: 趾甲营养不良
id: HP:0001812
hpo_term: Hyperconvex fingernails
chpo_term: 指甲异常凸起
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008391
hpo_term: Dystrophic fingernails
chpo_term: 指甲营养不良
id: HP:0009755
hpo_term: Ankyloblepharon
chpo_term: 睑缘粘连
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0000698
hpo_term: Conical tooth
chpo_term: 锥状齿
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0007440
hpo_term: Generalized hyperpigmentation
chpo_term: 泛发性色素沉着
id: HP:0011819
hpo_term: Submucous cleft soft palate
chpo_term: 粘膜下软腭裂
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0001092
hpo_term: Absent lacrimal punctum
chpo_term: 泪小点缺失
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
Disease (ORPHA:1078):
Piussan-Lenaerts-Mathieu syndrome
Thumb stiffness-brachydactyly-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0001172
hpo_term: Abnormal thumb morphology
chpo_term: 拇指形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0009370
hpo_term: Type A brachydactyly
chpo_term: A型短指
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (ORPHA:816):
Fatty acid alcohol oxidoreductase deficiency
Sjögren-Larsson syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007440
hpo_term: Generalized hyperpigmentation
chpo_term: 泛发性色素沉着
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0100533
hpo_term: Inflammatory abnormality of the eye
chpo_term: 眼睛的炎性异常
id: HP:0200020
hpo_term: Corneal erosion
chpo_term: 角膜糜烂
Disease (ORPHA:1077):
Dental ankylosis
Ankylosis of teeth

Associated phenotypes (HPO):
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
Disease (ORPHA:411536):
Mild PRPS1 superactivity
Mild phosphoribosylpyrophosphate synthetase superactivity
Mild PRPP synthetase superactivity

Associated phenotypes (HPO):
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
id: HP:0003149
hpo_term: Hyperuricosuria
chpo_term: 高尿酸尿症
id: HP:0003240
hpo_term: Increased phosphoribosylpyrophosphate synthetase level
chpo_term: 磷酸核糖焦磷酸合成酶增高
id: HP:0000791
hpo_term: Uric acid nephrolithiasis
chpo_term: 肾尿酸结石
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0020074
hpo_term: Crystalluria
chpo_term: 结晶尿
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0012626
hpo_term: Stage 4 chronic kidney disease
chpo_term: 慢性肾病4期
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
Disease (ORPHA:812):
Normomorphic sialidosis
Cherry-red spot-myoclonus syndrome
Lipomucopolysaccharidosis
Sialidosis type 1

Associated phenotypes (HPO):
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000943
hpo_term: Dysostosis multiplex
chpo_term: 多发性骨发育不全
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0003461
hpo_term: Increased urinary O-linked sialopeptides
chpo_term: 尿液唾液酸肽增加
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0010729
hpo_term: Cherry red spot of the macula
chpo_term: 黄斑樱桃红斑
id: HP:0011276
hpo_term: Vascular skin abnormality
chpo_term: 皮肤血管异常
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:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
Disease (ORPHA:98957):
Gelatinous drop-like corneal dystrophy
Subepithelial amyloidosis of the cornea
GDCD
Primary familial amyloidosis of the cornea

Associated phenotypes (HPO):
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0008039
hpo_term: Subepithelial corneal opacities
chpo_term: 上皮下角膜混浊
id: HP:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:0010637
hpo_term: Conjunctival amyloidosis
chpo_term: 结膜淀粉样变性
id: HP:0011496
hpo_term: Corneal neovascularization
chpo_term: 角膜新生血管
id: HP:0034804
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
id: HP:0011493
hpo_term: Central opacification of the cornea
chpo_term: 角膜的中央混浊
Disease (ORPHA:420485):
Dystonia 24
DYT24
Cranio-cervical dystonia with laryngeal and upper-limb involvement

Associated phenotypes (HPO):
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0007351
hpo_term: Upper limb postural tremor
chpo_term: 上肢姿势性震颤
id: HP:0012477
hpo_term: Vocal tremor
chpo_term: 声音震颤
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001600
hpo_term: Abnormality of the larynx
chpo_term: 喉部异常
id: HP:0002378
hpo_term: Hand tremor
chpo_term: 手部震颤
id: HP:0012048
hpo_term: Oromandibular dystonia
chpo_term: 口下颌肌张力障碍
Disease (ORPHA:93267):
Cloverleaf skull-multiple congenital anomalies syndrome

Associated phenotypes (HPO):
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000889
hpo_term: Abnormal clavicle morphology
chpo_term: 锁骨形态异常
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002676
hpo_term: Cloverleaf skull
chpo_term: 分叶状颅
id: HP:0002691
hpo_term: Platybasia
chpo_term: 颅底扁平症
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0004331
hpo_term: Decreased skull ossification
chpo_term: 颅骨骨化减少
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
Disease (ORPHA:810):
Shigellosis

Associated phenotypes (HPO):
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0025086
hpo_term: Bloody mucoid diarrhea
chpo_term: 血性粘液性腹泻
id: HP:0032155
hpo_term: Abdominal cramps
chpo_term: 腹部绞痛
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0003111
hpo_term: Abnormal blood ion concentration
chpo_term: 离子稳态平衡异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012702
hpo_term: Tenesmus
chpo_term: 里急后重
id: HP:0025406
hpo_term: Asthenia
chpo_term: 虚弱
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
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:0002590
hpo_term: Paralytic ileus
chpo_term: 麻痹性肠梗阻
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0025085
hpo_term: Bloody diarrhea
chpo_term: 便血
id: HP:0025615
hpo_term: Abscess
chpo_term: 脓肿
id: HP:0031274
hpo_term: Hypovolemic shock
chpo_term: 血量减少性休克
id: HP:0100279
hpo_term: Ulcerative colitis
chpo_term: 溃疡性结肠炎
id: HP:0100282
hpo_term: Acute colitis
chpo_term: 急性结肠炎
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0001937
hpo_term: Microangiopathic hemolytic anemia
chpo_term: 微血管病性溶血性贫血
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:0005575
hpo_term: Hemolytic-uremic syndrome
chpo_term: 溶血性尿毒症综合征
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0012804
hpo_term: Corneal ulceration
chpo_term: 角膜溃疡
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
id: HP:0025059
hpo_term: Splenic abscess
chpo_term: 脾脏脓肿
id: HP:0031368
hpo_term: Intestinal perforation
chpo_term: 肠穿孔
id: HP:0031864
hpo_term: Bacteremia
chpo_term: 菌血症
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0500006
hpo_term: Urethritis
chpo_term: 尿道炎
Disease (ORPHA:851):
Paris-Trousseau thrombocytopenia

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
Disease (ORPHA:168593):
Sudden infant death-dysgenesis of the testes syndrome
SIDDT

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0002793
hpo_term: Abnormal pattern of respiration
chpo_term: 呼吸模式异常
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常