TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:79319):
Phosphomannose isomerase deficiency
Carbohydrate deficient glycoprotein syndrome type Ib
Congenital disorder of glycosylation type 1b
MPI-CDG
Congenital disorder of glycosylation type Ib
CDG syndrome type Ib
CDG1B
CDG-Ib

Associated phenotypes (HPO):
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
id: HP:0040246
hpo_term: Reduced antithrombin antigen
chpo_term: 抗凝血酶抗原减少
id: HP:0000825
hpo_term: Hyperinsulinemic hypoglycemia
chpo_term: 高胰岛素性低血糖
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001929
hpo_term: Reduced factor XI activity
chpo_term: 凝血因子XI活性减低
id: HP:0001977
hpo_term: Abnormal thrombosis
chpo_term: 异常血栓形成
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002243
hpo_term: Protein-losing enteropathy
chpo_term: 蛋白丢失性肠病
id: HP:0004855
hpo_term: Reduced protein S activity
chpo_term: 蛋白S活性减低
id: HP:0005543
hpo_term: Reduced protein C activity
chpo_term: 蛋白C活性减低
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (ORPHA:492):
Proliferating trichilemmal cyst

Associated phenotypes (HPO):
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0200040
hpo_term: Epidermoid cyst
chpo_term: 表皮样囊肿
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:495):
Progressive diffuse palmoplantar keratoderma
Greither disease
Transgrediens et progrediens palmoplantar keratoderma
Keratosis extremitatum hereditaria progrediens
Progressive diffuse PPK
Keratosis palmoplantaris transgrediens et progrediens
Transgrediens et progrediens PPK

Associated phenotypes (HPO):
id: HP:0007447
hpo_term: Diffuse palmoplantar hyperkeratosis
chpo_term: 弥漫性掌跖角化过度
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001041
hpo_term: Facial erythema
chpo_term: 面部红斑
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
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:0005406
hpo_term: Recurrent bacterial skin infections
chpo_term: 复发性细菌性皮肤感染
id: HP:0007404
hpo_term: Nonepidermolytic palmoplantar hyperkeratosis
chpo_term: 非表皮松解性掌跖角化症
id: HP:0007556
hpo_term: Plantar hyperkeratosis
chpo_term: 跖部角化过度
id: HP:0008391
hpo_term: Dystrophic fingernails
chpo_term: 指甲营养不良
id: HP:0010765
hpo_term: Palmar hyperkeratosis
chpo_term: 掌部角化过度
id: HP:0011370
hpo_term: Recurrent cutaneous fungal infections
chpo_term: 复发性皮肤真菌感染
id: HP:0012785
hpo_term: Flexion contracture of finger
chpo_term: 手指屈曲挛缩
id: HP:0030318
hpo_term: Angular cheilitis
chpo_term: 口角炎
id: HP:0001805
hpo_term: Onychogryposis
chpo_term: 厚甲
id: HP:0009775
hpo_term: Amniotic constriction ring
chpo_term: 羊膜带狭窄环
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0031452
hpo_term: Lichenoid skin lesion
chpo_term: 皮肤苔藓样变
Disease (ORPHA:494):
PPK mutilans and hearing loss
PPK mutilans and deafness
Mutilating keratoderma plus hearing loss
Keratoderma hereditarium mutilans
Vohwinkel syndrome
Mutilating keratoderma of Vohwinkel
Mutilating keratoderma plus deafness

Associated phenotypes (HPO):
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
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:0002143
hpo_term: Abnormality of the spinal cord
chpo_term: 脊髓异常
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0007460
hpo_term: Autoamputation of digits
chpo_term: 手指（足趾）自发性离断
id: HP:0007465
hpo_term: Honeycomb palmoplantar hyperkeratosis
chpo_term: 蜂窝状掌跖角化
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0008388
hpo_term: Abnormal toenail morphology
chpo_term: 趾甲形态异常
id: HP:0009775
hpo_term: Amniotic constriction ring
chpo_term: 羊膜带狭窄环
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
Disease (ORPHA:459056):
SPG75
Autosomal recessive spastic paraplegia type 75

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0012511
hpo_term: Temporal optic disc pallor
chpo_term: 颞侧视盘苍白
id: HP:0030187
hpo_term: Titubation
chpo_term: 蹒跚
Disease (ORPHA:1706):
Mosaic trisomy 15 syndrome
Mosaic trisomy chromosome 15
Trisomy 15 mosaicism

Associated phenotypes (HPO):
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002916
hpo_term: Abnormality of chromosome segregation
chpo_term: 染色体分离异常
id: HP:0004097
hpo_term: Deviation of finger
chpo_term: 手指偏离
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:1705):
Distal duplication 14q syndrome
Telomeric duplication 14q
Trisomy 14qter

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001679
hpo_term: Abnormal aortic morphology
chpo_term: 主动脉形态异常
id: HP:0002101
hpo_term: Abnormal lung lobation
chpo_term: 肺分叶异常
id: HP:0002916
hpo_term: Abnormality of chromosome segregation
chpo_term: 染色体分离异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0010935
hpo_term: Abnormality of the upper urinary tract
chpo_term: 上尿路异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:79320):
CDG1C
Congenital disorder of glycosylation type Ic
Congenital disorder of glycosylation type 1c
Glucosyltransferase 1 deficiency
ALG6-CDG
CDG syndrome type Ic
CDG-Ic
Carbohydrate deficient glycoprotein syndrome type Ic

Associated phenotypes (HPO):
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
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:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001392
hpo_term: Abnormality of the liver
chpo_term: 肝脏异常
id: HP:0001929
hpo_term: Reduced factor XI activity
chpo_term: 凝血因子XI活性减低
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002243
hpo_term: Protein-losing enteropathy
chpo_term: 蛋白丢失性肠病
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:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
id: HP:0003642
hpo_term: Type I transferrin isoform profile
chpo_term: I型转铁蛋白异构体谱
id: HP:0004855
hpo_term: Reduced protein S activity
chpo_term: 蛋白S活性减低
id: HP:0005543
hpo_term: Reduced protein C activity
chpo_term: 蛋白C活性减低
id: HP:0006118
hpo_term: Shortening of all distal phalanges of the fingers
chpo_term: 手指的所有远端指骨缩短
id: HP:0040246
hpo_term: Reduced antithrombin antigen
chpo_term: 抗凝血酶抗原减少
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002625
hpo_term: Deep venous thrombosis
chpo_term: 深静脉血栓形成
id: HP:0003563
hpo_term: Decreased LDL cholesterol concentration
chpo_term: 低β-脂蛋白血症
id: HP:0008373
hpo_term: Puberty and gonadal disorders
chpo_term: 青春期及性腺疾病
id: HP:0030348
hpo_term: Increased circulating androgen concentration
chpo_term: 循环雄激素浓度增加
Disease (ORPHA:1703):
Mosaic trisomy chromosome 14
Mosaic trisomy 14 syndrome
Trisomy 14 mosaicism

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
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: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:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002916
hpo_term: Abnormality of chromosome segregation
chpo_term: 染色体分离异常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0004397
hpo_term: Ectopic anus
chpo_term: 肛门异位
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0008056
hpo_term: Aplasia/Hypoplasia affecting the eye
chpo_term: 眼睛发育缺陷/不全
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
Disease (ORPHA:1702):
Non-distal duplication 13q syndrome
Non-distal trisomy 13q
Non-telomeric trisomy 13q

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0002916
hpo_term: Abnormality of chromosome segregation
chpo_term: 染色体分离异常
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0008056
hpo_term: Aplasia/Hypoplasia affecting the eye
chpo_term: 眼睛发育缺陷/不全
id: HP:0009738
hpo_term: Abnormal antihelix morphology
chpo_term: 对耳轮形态异常
id: HP:0009906
hpo_term: Aplasia/Hypoplasia of the earlobes
chpo_term: 耳垂发育缺陷/不全
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
Disease (ORPHA:79323):
CDG-If
CDG1F
CDG syndrome type If
Carbohydrate deficient glycoprotein syndrome type If
Congenital disorder of glycosylation type If
Congenital disorder of glycosylation type 1f
MPDU1-CDG

Associated phenotypes (HPO):
id: HP:0003642
hpo_term: Type I transferrin isoform profile
chpo_term: I型转铁蛋白异构体谱
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000242
hpo_term: Parietal bossing
chpo_term: 顶骨隆起
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000803
hpo_term: Renal cortical cysts
chpo_term: 肾皮质囊肿
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:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0005478
hpo_term: Prominent frontal sinuses
chpo_term: 额窦突出
id: HP:0007965
hpo_term: Undetectable visual evoked potentials
chpo_term: 视觉诱发电位无波形
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0008529
hpo_term: Absence of acoustic reflex
chpo_term: 声反射缺失
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012704
hpo_term: Widened subarachnoid space
chpo_term: 蛛网膜下腔增宽
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0030353
hpo_term: Decreased serum insulin-like growth factor 1
chpo_term: 血清胰岛素样生长因子-1（IGF1）水平降低
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0040288
hpo_term: Nasogastric tube feeding
chpo_term: 鼻胃管灌食
Disease (ORPHA:54028):
Plummer-Vinson syndrome
Kelly-Paterson syndrome
Sideropenic dysphagia

Associated phenotypes (HPO):
id: HP:0001891
hpo_term: Iron deficiency anemia
chpo_term: 缺铁性贫血
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0004840
hpo_term: Hypochromic microcytic anemia
chpo_term: 低色素性小红细胞性贫血
id: HP:0012343
hpo_term: Decreased circulating ferritin concentration
chpo_term: 血清铁蛋白降低
id: HP:0100594
hpo_term: Esophageal web
chpo_term: 食管蹼
id: HP:0000206
hpo_term: Glossitis
chpo_term: 舌炎
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0001598
hpo_term: Concave nail
chpo_term: 反甲
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0010284
hpo_term: Intra-oral hyperpigmentation
chpo_term: 口内色素沉着
id: HP:0012473
hpo_term: Tongue atrophy
chpo_term: 舌萎缩
id: HP:0025062
hpo_term: Geophagia
chpo_term: 食土癖
id: HP:0100825
hpo_term: Cheilitis
chpo_term: 唇炎
Disease (ORPHA:486):
Autosomal dominant severe congenital neutropenia

Associated phenotypes (HPO):
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0000230
hpo_term: Gingivitis
chpo_term: 牙龈炎
id: HP:0000704
hpo_term: Periodontitis
chpo_term: 牙周炎
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0004798
hpo_term: Recurrent infection of the gastrointestinal tract
chpo_term: 胃肠道复发性感染
id: HP:0005425
hpo_term: Recurrent sinopulmonary infections
chpo_term: 反复鼻窦及肺感染
id: HP:0011107
hpo_term: Recurrent aphthous stomatitis
chpo_term: 复发性口疮性口炎
id: HP:0012311
hpo_term: Monocytosis
chpo_term: 单核细胞增多症
id: HP:0012384
hpo_term: Rhinitis
chpo_term: 鼻炎
id: HP:0025439
hpo_term: Pharyngitis
chpo_term: 咽炎
id: HP:0410018
hpo_term: Recurrent ear infections
chpo_term: 反复耳部感染
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0001909
hpo_term: Leukemia
chpo_term: 白血病
id: HP:0001915
hpo_term: Aplastic anemia
chpo_term: 再生障碍性贫血
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0003453
hpo_term: Antineutrophil antibody positivity
chpo_term: 抗中性粒细胞抗体阳性
id: HP:0004808
hpo_term: Acute myeloid leukemia
chpo_term: 急性髓性白血病
id: HP:0006480
hpo_term: Premature loss of teeth
chpo_term: 牙齿过早脱落
id: HP:0006721
hpo_term: Acute lymphoblastic leukemia
chpo_term: 急性淋巴细胞白血病
id: HP:0025452
hpo_term: Pyoderma gangrenosum
chpo_term: 坏疽性脓皮病
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
Disease (ORPHA:488):
Urachal cyst

Associated phenotypes (HPO):
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0012085
hpo_term: Pyuria
chpo_term: 脓尿
id: HP:0025143
hpo_term: Chills
chpo_term: 寒栗
id: HP:0025615
hpo_term: Abscess
chpo_term: 脓肿
id: HP:0032169
hpo_term: Severe infection
chpo_term: 重度感染
id: HP:0100518
hpo_term: Dysuria
chpo_term: 排尿困难
id: HP:0100525
hpo_term: Urachus fistula
chpo_term: 脐尿管瘘
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0010766
hpo_term: Ectopic calcification
chpo_term: 异位钙化
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0031500
hpo_term: Abdominal mass
chpo_term: 腹部肿块
Disease (ORPHA:482):
Kimura disease
Eosinophilic lymphogranuloma

Associated phenotypes (HPO):
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0002729
hpo_term: Follicular hyperplasia
chpo_term: 淋巴滤泡增生
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0010286
hpo_term: Abnormal salivary gland morphology
chpo_term: 唾液腺形态异常
Disease (ORPHA:481):
X-linked bulbospinal muscular atrophy
X-linked BSMA
SMAX1
Kennedy disease
SBMA
X-linked bulbospinal amyotrophy
X-linked spinal and bulbar muscular atrophy

Associated phenotypes (HPO):
id: HP:0000029
hpo_term: Testicular atrophy
chpo_term: 睾丸萎缩
id: HP:0000144
hpo_term: Decreased fertility
chpo_term: 生育能力下降
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0003119
hpo_term: Abnormal circulating lipid concentration
chpo_term: 脂代谢异常
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0100639
hpo_term: Erectile dysfunction
chpo_term: 勃起功能障碍
Disease (ORPHA:480):
Kearns-Sayre syndrome

Associated phenotypes (HPO):
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0000590
hpo_term: Progressive external ophthalmoplegia
chpo_term: 进行性眼外肌麻痹
id: HP:0001709
hpo_term: Third degree atrioventricular block
chpo_term: 三度房室传导阻滞
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000830
hpo_term: Anterior hypopituitarism
chpo_term: 垂体前叶功能减退症
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:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
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
id: HP:0004622
hpo_term: Progressive intervertebral space narrowing
chpo_term: 椎间隙渐进性变窄
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001947
hpo_term: Renal tubular acidosis
chpo_term: 肾小管性酸中毒
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:43393):
Lambert-Eaton myasthenic syndrome

Associated phenotypes (HPO):
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0003403
hpo_term: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
chpo_term: EMG：复合肌肉动作电位对重复神经刺激的反应递减
id: HP:0009073
hpo_term: Progressive proximal muscle weakness
chpo_term: 进行性近端肌无力
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:0030000
hpo_term: EMG: repetitive nerve stimulation abnormality
chpo_term: 肌电图: 重复性神经电刺激异常
id: HP:0030209
hpo_term: Calcium channel antibody positivity
chpo_term: 钙通道抗体阳性
id: HP:0000315
hpo_term: Abnormality of the orbital region
chpo_term: 眼眶异常
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002483
hpo_term: Bulbar signs
chpo_term: 球部体征
id: HP:0030357
hpo_term: Small cell lung carcinoma
chpo_term: 小细胞肺癌
id: HP:5000027
hpo_term: Anti-P/Q-type VGCC antibody positivity
chpo_term: 抗P/Q-type VGCC抗体阳性
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0004926
hpo_term: Orthostatic hypotension due to autonomic dysfunction
chpo_term: 自主神经功能障碍性体位性低血压