TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:79153):
Idiopathic trachyonychia

Associated phenotypes (HPO):
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0001598
hpo_term: Concave nail
chpo_term: 反甲
id: HP:0001803
hpo_term: Nail pits
chpo_term: 甲凹点
id: HP:0001807
hpo_term: Ridged nail
chpo_term: 甲纵嵴
id: HP:0001808
hpo_term: Fragile nails
chpo_term: 脆甲
id: HP:0001816
hpo_term: Thin nail
chpo_term: 薄甲
id: HP:0100798
hpo_term: Fingernail dysplasia
chpo_term: 指甲发育不良
id: HP:0100803
hpo_term: Abnormality of the periungual region
chpo_term: 甲周异常
id: HP:0002232
hpo_term: Patchy alopecia
chpo_term: 片形脱发，鬼剃头
id: HP:0008399
hpo_term: Circumungual hyperkeratosis
chpo_term: 甲周皮肤角化过度
id: HP:0100797
hpo_term: Toenail dysplasia
chpo_term: 趾甲发育不良
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0011034
hpo_term: Amyloidosis
chpo_term: 淀粉样变
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
Disease (ORPHA:2980):
Acrootoocular syndrome
Pseudopapilledema-blepharophimosis-hand anomalies syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000301
hpo_term: Abnormality of facial musculature
chpo_term: 面部肌肉异常
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000363
hpo_term: Abnormal earlobe morphology
chpo_term: 耳垂形态异常
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000538
hpo_term: Pseudopapilledema
chpo_term: 假性视乳头水肿
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000674
hpo_term: Anodontia
chpo_term: 无牙畸形
id: HP:0000683
hpo_term: Grayish enamel
chpo_term: 灰色牙釉质
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
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:0001245
hpo_term: Small thenar eminence
chpo_term: 小鱼际小
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006143
hpo_term: Abnormal finger flexion creases
chpo_term: 手指屈曲褶痕异常
id: HP:0006184
hpo_term: Decreased palmar creases
chpo_term: 掌纹减少
id: HP:0007481
hpo_term: Hyperpigmented nevi
chpo_term: 色素痣
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0010487
hpo_term: Small hypothenar eminence
chpo_term: 小鱼际小
id: HP:0010765
hpo_term: Palmar hyperkeratosis
chpo_term: 掌部角化过度
id: HP:0011069
hpo_term: Supernumerary tooth
chpo_term: 多生牙
id: HP:0012428
hpo_term: Prominent calcaneus
chpo_term: 跟骨突出
id: HP:0012725
hpo_term: Cutaneous syndactyly
chpo_term: 皮肤性并指畸形
id: HP:0012810
hpo_term: Wide nasal base
chpo_term: 宽鼻底
id: HP:0030842
hpo_term: Choking episodes
chpo_term: 窒息发作
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (ORPHA:79155):
Kynureninase deficiency
Xanthurenic aciduria
Hydroxykynureninuria

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0004365
hpo_term: Abnormal circulating tryptophan concentration
chpo_term: 色氨酸代谢异常
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001947
hpo_term: Renal tubular acidosis
chpo_term: 肾小管性酸中毒
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0005957
hpo_term: Breathing dysregulation
chpo_term: 呼吸失调
id: HP:0008527
hpo_term: Congenital sensorineural hearing impairment
chpo_term: 先天性感音神经性听力障碍
id: HP:0010280
hpo_term: Stomatitis
chpo_term: 口腔炎
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0002448
hpo_term: Progressive encephalopathy
chpo_term: 进行性脑病
Disease (ORPHA:1659):
Cutis laxa-leukodystrophy
Dermatoleukodystrophy

Associated phenotypes (HPO):
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0012639
hpo_term: Abnormal nervous system morphology
chpo_term: 神经系统形态异常
Disease (ORPHA:79156):
Seizures-intellectual disability due to hydroxylysinuria syndrome

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
Disease (ORPHA:1658):
Baird syndrome
Absence of dermatoglyphics-congenital milia syndrome
Basan-Baird syndrome
Absence of fingerprints-congenital milia syndrome

Associated phenotypes (HPO):
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0009775
hpo_term: Amniotic constriction ring
chpo_term: 羊膜带狭窄环
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:2983):
Disorder of sex development-intellectual disability syndrome
Difference of sex development-intellectual disability syndrome
Verloes-Gillerot-Fryns syndrome

Associated phenotypes (HPO):
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0008625
hpo_term: Severe sensorineural hearing impairment
chpo_term: 重度感音神经性耳聋
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0010720
hpo_term: Abnormal hair pattern
chpo_term: 毛发分布异常
Disease (ORPHA:1657):
Dermatoosteolysis, Kirghizian type

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0000940
hpo_term: Abnormal diaphysis morphology
chpo_term: 骨干形态异常
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0001810
hpo_term: Dystrophic toenail
chpo_term: 趾甲营养不良
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003019
hpo_term: Abnormality of the wrist
chpo_term: 手腕异常
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0008391
hpo_term: Dystrophic fingernails
chpo_term: 指甲营养不良
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:1656):
Dermatitis herpetiformis
Duhring-Brocq disease

Associated phenotypes (HPO):
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012538
hpo_term: Gluten intolerance
chpo_term: 麸质不耐受
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0033565
hpo_term: Anti-epidermal transglutaminase antibody positivity
chpo_term: 抗表皮转谷氨酰胺酶抗体阳性
id: HP:0033637
hpo_term: Anti-endomysial antibody positivity
chpo_term: 抗肌内膜抗体阳性
id: HP:4000026
hpo_term: Anti-transglutaminase 6 antibody
chpo_term: 抗谷氨酰胺转氨酶6抗体
id: HP:4000029
hpo_term: Antigliadin antibody positivity
chpo_term: 抗醇溶蛋白抗体阳性
id: HP:4000030
hpo_term: Anti-reticulin antibody positivity
chpo_term: 抗网硬蛋白抗体
id: HP:4000031
hpo_term: Anti-type VII collagen antibody
chpo_term: 抗VII型胶原抗体
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000820
hpo_term: Abnormality of the thyroid gland
chpo_term: 甲状腺异常
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0009722
hpo_term: Dental enamel pits
chpo_term: 牙釉质凹陷
id: HP:0100725
hpo_term: Lichenification
chpo_term: 苔藓样变
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0031446
hpo_term: Erosion of oral mucosa
chpo_term: 口腔黏膜糜烂
Disease (ORPHA:79159):
Isobutyryl-CoA dehydrogenase deficiency
Isobutyric aciduria

Associated phenotypes (HPO):
id: HP:0003215
hpo_term: Dicarboxylic aciduria
chpo_term: 二羧酸尿症
id: HP:0003234
hpo_term: Decreased plasma carnitine
chpo_term: 血浆肉碱降低
id: HP:0045045
hpo_term: Elevated circulating acylcarnitine concentration
chpo_term: 血浆酰基肉碱水平升高
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0012734
hpo_term: Ketotic hypoglycemia
chpo_term: 酮症性低血糖症
Disease (ORPHA:2985):
Hal-Berg-Rudolph syndrome
Absent eyebrows and eyelashes-intellectual disability syndrome
Pseudoprogeria syndrome

Associated phenotypes (HPO):
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000320
hpo_term: Bird-like facies
chpo_term: 鸟样面相
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002478
hpo_term: Progressive spastic quadriplegia
chpo_term: 进行性痉挛性四肢瘫
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0004423
hpo_term: Cranium bifidum occultum
chpo_term: 隐性颅裂
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0009745
hpo_term: Spinal arachnoid cyst
chpo_term: 脊髓蛛网膜囊肿
id: HP:0011832
hpo_term: Narrow nasal tip
chpo_term: 鼻尖狭窄
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
Disease (ORPHA:1655):
Müllerian derivatives-lymphangiectasia-polydactyly syndrome
Urioste 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:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000130
hpo_term: Abnormality of the uterus
chpo_term: 子宫异常
id: HP:0000148
hpo_term: Vaginal atresia
chpo_term: 阴道闭锁
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
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:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0001090
hpo_term: Abnormally large globe
chpo_term: 大眼球
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0003075
hpo_term: Hypoproteinemia
chpo_term: 低蛋白血症
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0005989
hpo_term: Redundant neck skin
chpo_term: 颈部皮肤增厚
id: HP:0006273
hpo_term: Pancreatic lymphangiectasis
chpo_term: 胰腺淋巴管扩张
id: HP:0006521
hpo_term: Pulmonary lymphangiectasia
chpo_term: 肺淋巴管扩张
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0009085
hpo_term: Alveolar ridge overgrowth
chpo_term: 牙槽嵴增生
id: HP:0011027
hpo_term: Abnormal fallopian tube morphology
chpo_term: 输卵管形态异常
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0012210
hpo_term: Abnormal renal morphology
chpo_term: 肾形态异常
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0002243
hpo_term: Protein-losing enteropathy
chpo_term: 蛋白丢失性肠病
Disease (ORPHA:397946):
SPG58
Autosomal spastic ataxia type 2
SPAX2
Autosomal spastic paraplegia type 58

Associated phenotypes (HPO):
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0002497
hpo_term: Spastic ataxia
chpo_term: 痉挛性共济失调
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
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:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0025357
hpo_term: Erratic myoclonus
chpo_term: 不规则肌阵挛
id: HP:0030187
hpo_term: Titubation
chpo_term: 蹒跚
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:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
Disease (ORPHA:64280):
Pyknolepsy
Childhood absence epilepsy

Associated phenotypes (HPO):
id: HP:0010848
hpo_term: EEG with spike-wave complexes (2.5-3.5 Hz)
chpo_term: 脑电图，棘慢复合波（2.5-3.5赫兹）
id: HP:0011147
hpo_term: Typical absence seizure
chpo_term: 典型的失神发作
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
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:0002883
hpo_term: Hyperventilation
chpo_term: 过度通气
id: HP:0007738
hpo_term: Uncontrolled eye movements
chpo_term: 不受控制的眼球运动
id: HP:0010522
hpo_term: Dyslexia
chpo_term: 失读症
id: HP:0010794
hpo_term: Impaired visuospatial constructive cognition
chpo_term: 视空间结构认知障碍
id: HP:0011150
hpo_term: Myoclonic absence seizure
chpo_term: 肌阵挛失神发作
id: HP:0012433
hpo_term: Abnormal social behavior
chpo_term: 社会行为异常
id: HP:0030218
hpo_term: Punding
chpo_term: 刻板运动
id: HP:0031469
hpo_term: Low self esteem
chpo_term: 低自尊
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0006961
hpo_term: Jerky head movements
chpo_term: 抽动样头部运动
id: HP:0045084
hpo_term: Limb myoclonus
chpo_term: 肢体肌阵挛
Disease (ORPHA:1764):
Familial dysautonomia
HSAN3
Hereditary sensory and autonomic neuropathy type 3
Hereditary sensory and autonomic neuropathy type III
Riley-Day syndrome

Associated phenotypes (HPO):
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000522
hpo_term: Alacrima
chpo_term: 无泪
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000615
hpo_term: Abnormal pupil morphology
chpo_term: 瞳孔形态异常
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001063
hpo_term: Acrocyanosis
chpo_term: 手足发绀
id: HP:0001100
hpo_term: Heterochromia iridis
chpo_term: 虹膜异色
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:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001278
hpo_term: Orthostatic hypotension
chpo_term: 体位性低血压
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:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002047
hpo_term: Malignant hyperthermia
chpo_term: 恶性高热
id: HP:0002103
hpo_term: Abnormal pleura morphology
chpo_term: 胸膜异常
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002585
hpo_term: Abnormality of the peritoneum
chpo_term: 腹膜异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0100820
hpo_term: Glomerulopathy
chpo_term: 肾小球病
id: HP:0200020
hpo_term: Corneal erosion
chpo_term: 角膜糜烂
Disease (ORPHA:1762):
Proximal Xq28 duplication syndrome
MECP2 duplication syndrome
X-linked intellectual disability syndrome, Lubs type

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
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:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002916
hpo_term: Abnormality of chromosome segregation
chpo_term: 染色体分离异常
id: HP:0004299
hpo_term: Hernia of the abdominal wall
chpo_term: 腹壁疝
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓