TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:401815):
Autosomal recessive spastic paraplegia type 66
SPG66

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001301
hpo_term: Chronic sensorineural polyneuropathy
chpo_term: 慢性多发性感觉神经病
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0007020
hpo_term: Progressive spastic paraplegia
chpo_term: 进行性痉挛性截瘫
id: HP:0007210
hpo_term: Lower limb amyotrophy
chpo_term: 下肢肌萎缩
id: HP:0030048
hpo_term: Colpocephaly
chpo_term: 枕角扩大畸形
Disease (ORPHA:306542):
ALX1-related frontonasal dysplasia
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Frontonasal dysplasia type 3

Associated phenotypes (HPO):
id: HP:0000625
hpo_term: Eyelid coloboma
chpo_term: 眼睑缺损
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0002006
hpo_term: Facial cleft
chpo_term: 面裂
id: HP:0005258
hpo_term: Pectoral muscle hypoplasia/aplasia
chpo_term: 胸肌发育不全/发育不良
id: HP:0005466
hpo_term: Hypoplasia of the frontal bone
chpo_term: 额骨发育不全
id: HP:0009119
hpo_term: Aplasia/Hypoplasia of the frontal sinuses
chpo_term: 额窦发育不良/发育不全
id: HP:0011803
hpo_term: Bifid nose
chpo_term: 鼻裂
id: HP:0040019
hpo_term: Finger clinodactyly
chpo_term: 指弯曲
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0004423
hpo_term: Cranium bifidum occultum
chpo_term: 隐性颅裂
id: HP:0006931
hpo_term: Pericallosal lipoma
chpo_term: 胼胝体周围脂肪瘤
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
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:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
Disease (ORPHA:250923):
Isolated aniridia

Associated phenotypes (HPO):
id: HP:0000526
hpo_term: Aniridia
chpo_term: 无虹膜
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007676
hpo_term: Hypoplasia of the iris
chpo_term: 虹膜发育不全
id: HP:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
id: HP:0008059
hpo_term: Aplasia/Hypoplasia of the macula
chpo_term: 黄斑发育缺陷/不全
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000642
hpo_term: Red-green dyschromatopsia
chpo_term: 红绿色觉障碍
id: HP:0000659
hpo_term: Peters anomaly
chpo_term: Peters 综合征
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0007894
hpo_term: Hypopigmentation of the fundus
chpo_term: 眼底的色素沉着不足
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0011496
hpo_term: Corneal neovascularization
chpo_term: 角膜新生血管
id: HP:0030466
hpo_term: Abnormal full-field electroretinogram
chpo_term: 全视野视网膜电图异常
id: HP:0030468
hpo_term: Abnormal multifocal electroretinogram
chpo_term: 多焦视网膜电图异常
id: HP:0030622
hpo_term: Abnormal foveal pit on macular OCT
chpo_term: OCT 测量法黄斑区中心凹小凹异常
id: HP:0032107
hpo_term: Limbal stem cell deficiency
chpo_term: 角膜缘干细胞缺乏症
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0030961
hpo_term: Microspherophakia
chpo_term: 小球形晶状体
id: HP:0100719
hpo_term: Lens coloboma
chpo_term: 晶状体缺损
Disease (ORPHA:1566):
Dandy-Walker malformation-postaxial polydactyly syndrome
DWM with postaxial polydactyly
Pierquin syndrome

Associated phenotypes (HPO):
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
Disease (ORPHA:139578):
Mutilating hereditary sensory neuropathy with spastic paraplegia
Mutilating HSAN with spastic paraplegia

Associated phenotypes (HPO):
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
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:0003409
hpo_term: Distal sensory impairment of all modalities
chpo_term: 远端各种感觉障碍
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0002143
hpo_term: Abnormality of the spinal cord
chpo_term: 脊髓异常
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
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:0007020
hpo_term: Progressive spastic paraplegia
chpo_term: 进行性痉挛性截瘫
id: HP:0001886
hpo_term: Foot osteomyelitis
chpo_term: 足骨骨髓炎
id: HP:0006121
hpo_term: Acral ulceration
chpo_term: 肢端溃疡
Disease (ORPHA:2898):
Hyde Forster-McCarthy-Berry syndrome
X-linked intellectual disability-plagiocephaly syndrome

Associated phenotypes (HPO):
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002506
hpo_term: Diffuse cerebral atrophy
chpo_term: 弥漫性脑萎缩
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0007000
hpo_term: Morning myoclonic jerks
chpo_term: 早晨肌阵挛样抽动
id: HP:0007281
hpo_term: Developmental stagnation
chpo_term: 发育停滞
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
Disease (ORPHA:1563):
Dahlberg syndrome
Dahlberg-Borer-Newcomer syndrome
Lymphedema-hypoparathyroidism syndrome

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
Disease (ORPHA:2890):
Pili torti-onychodysplasia syndrome

Associated phenotypes (HPO):
id: HP:0000968
hpo_term: Ectodermal dysplasia
chpo_term: 外胚层发育不良
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0002289
hpo_term: Alopecia universalis
chpo_term: 全身毛发脱失
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0002552
hpo_term: Trichodysplasia
chpo_term: 毛发发育异常
id: HP:0007439
hpo_term: Generalized keratosis follicularis
chpo_term: 泛发性毛囊角化症
id: HP:0008394
hpo_term: Congenital onychodystrophy
chpo_term: 先天性甲营养不良
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0010562
hpo_term: Keloids
chpo_term: 瘢痕疙瘩
id: HP:0012725
hpo_term: Cutaneous syndactyly
chpo_term: 皮肤性并指畸形
id: HP:0030953
hpo_term: Conjunctival hyperemia
chpo_term: 结膜充血
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
Disease (ORPHA:2891):
Pili torti-developmental delay-neurological abnormalities syndrome

Associated phenotypes (HPO):
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0003777
hpo_term: Pili torti
chpo_term: 卷发
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0010719
hpo_term: Abnormality of hair texture
chpo_term: 发质异常
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
id: HP:0200102
hpo_term: Sparse or absent eyelashes
chpo_term: 睫毛稀疏/无睫毛
Disease (ORPHA:276244):
Spinocerebellar ataxia type 3, Machado type
Machado-Joseph disease type 3
SCA3, Machado type

Associated phenotypes (HPO):
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007089
hpo_term: Facial-lingual fasciculations
chpo_term: 面-舌肌束颤
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0011960
hpo_term: Substantia nigra gliosis
chpo_term: 黑质神经胶质增生
id: HP:0040140
hpo_term: Degeneration of the striatum
chpo_term: 纹状体退行性变
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0004370
hpo_term: Abnormality of temperature regulation
chpo_term: 体温调节异常
id: HP:0000590
hpo_term: Progressive external ophthalmoplegia
chpo_term: 进行性眼外肌麻痹
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000623
hpo_term: Supranuclear ophthalmoplegia
chpo_term: 核上性眼肌麻痹
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002198
hpo_term: Dilated fourth ventricle
chpo_term: 第四脑室扩张
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002366
hpo_term: Abnormal lower motor neuron morphology
chpo_term: 下运动神经元形态异常
id: HP:0002398
hpo_term: Degeneration of anterior horn cells
chpo_term: 前角细胞变性
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002493
hpo_term: Upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍/功能异常
id: HP:0002503
hpo_term: Spinocerebellar tract degeneration
chpo_term: 脊髓小脑束变性
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
Disease (ORPHA:1568):
Pettigrew Syndrome
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
Disease (ORPHA:2897):
Pityriasis rubra pilaris

Associated phenotypes (HPO):
id: HP:0000163
hpo_term: Abnormal oral cavity morphology
chpo_term: 口腔形态异常
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0008392
hpo_term: Subungual hyperkeratosis
chpo_term: 甲下角化过度
id: HP:0100725
hpo_term: Lichenification
chpo_term: 苔藓样变
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
Disease (ORPHA:276241):
Machado-Joseph disease type 2
Spinocerebellar ataxia, Thomas type
SCA3, Thomas type

Associated phenotypes (HPO):
id: HP:0000590
hpo_term: Progressive external ophthalmoplegia
chpo_term: 进行性眼外肌麻痹
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000623
hpo_term: Supranuclear ophthalmoplegia
chpo_term: 核上性眼肌麻痹
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002198
hpo_term: Dilated fourth ventricle
chpo_term: 第四脑室扩张
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002493
hpo_term: Upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍/功能异常
id: HP:0002503
hpo_term: Spinocerebellar tract degeneration
chpo_term: 脊髓小脑束变性
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007089
hpo_term: Facial-lingual fasciculations
chpo_term: 面-舌肌束颤
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0011960
hpo_term: Substantia nigra gliosis
chpo_term: 黑质神经胶质增生
id: HP:0040140
hpo_term: Degeneration of the striatum
chpo_term: 纹状体退行性变
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0004370
hpo_term: Abnormality of temperature regulation
chpo_term: 体温调节异常
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
Disease (ORPHA:401820):
SPG67
Autosomal recessive spastic paraplegia type 67

Associated phenotypes (HPO):
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0006817
hpo_term: Aplasia/Hypoplasia of the cerebellar vermis
chpo_term: 小脑蚓部发育缺陷/发育不全
id: HP:0007020
hpo_term: Progressive spastic paraplegia
chpo_term: 进行性痉挛性截瘫
id: HP:0012447
hpo_term: Abnormal myelination
chpo_term: 髓鞘异常
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0200085
hpo_term: Limb tremor
chpo_term: 肢体震颤
Disease (ORPHA:583861):
Isolated mesenteric vein thrombosis

Associated phenotypes (HPO):
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0030248
hpo_term: Mesenteric venous thrombosis
chpo_term: 肠系膜静脉血栓形成
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:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0030151
hpo_term: Cholangitis
chpo_term: 胆管炎
id: HP:0031273
hpo_term: Shock
chpo_term: 休克
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0410282
hpo_term: Abnormal circulating amylase level
chpo_term: 血液淀粉酶水平异常
id: HP:6000377
Disease (ORPHA:1555):
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Beare-Stevenson cutis gyrata syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000364
hpo_term: Hearing abnormality
chpo_term: 听力异常
id: HP:0000391
hpo_term: Thickened helices
chpo_term: 耳轮增厚
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001732
hpo_term: Abnormality of the pancreas
chpo_term: 胰腺异常
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002676
hpo_term: Cloverleaf skull
chpo_term: 分叶状颅
id: HP:0003246
hpo_term: Prominent scrotal raphe
chpo_term: 阴囊中缝突出
id: HP:0004450
hpo_term: Preauricular skin furrow
chpo_term: 耳前皮肤皱褶
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0007469
hpo_term: Palmoplantar cutis gyrata
chpo_term: 掌跖表皮旋纹
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0009906
hpo_term: Aplasia/Hypoplasia of the earlobes
chpo_term: 耳垂发育缺陷/不全
id: HP:0010669
hpo_term: Hypoplasia of the zygomatic bone
chpo_term: 颧骨发育不良
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0100761
hpo_term: Visceral angiomatosis
chpo_term: 内脏血管瘤病
Disease (ORPHA:1553):
Corpus callosum agenesis-polysyndactyly syndrome
Curry-Jones syndrome

Associated phenotypes (HPO):
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000588
hpo_term: Optic disc coloboma
chpo_term: 视盘缺损
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001829
hpo_term: Foot polydactyly
chpo_term: 多趾
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0009602
hpo_term: Abnormality of thumb phalanx
chpo_term: 拇指指骨异常
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
Disease (ORPHA:2889):
Pili torti
Twisted hair

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000534
hpo_term: Abnormal eyebrow morphology
chpo_term: 眉毛形态异常
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0003777
hpo_term: Pili torti
chpo_term: 卷发
id: HP:0010719
hpo_term: Abnormality of hair texture
chpo_term: 发质异常