TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:244310):
Congenital disorder of glycosylation type In
CDG1N
Congenital disorder of glycosylation type 1n
CDG-In
RFT1-CDG
Man5GlcNAc2-PP-Dol flippase deficiency
Carbohydrate deficient glycoprotein syndrome type In
CDG syndrome type In

Associated phenotypes (HPO):
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0001977
hpo_term: Abnormal thrombosis
chpo_term: 异常血栓形成
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000932
hpo_term: Abnormal posterior cranial fossa morphology
chpo_term: 后颅窝形态异常
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002401
hpo_term: Stroke-like episode
chpo_term: 卒中样发作
id: HP:0007146
hpo_term: Bilateral basal ganglia lesions
chpo_term: 双侧基底节病变
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
Disease (ORPHA:2833):
Stiff skin syndrome

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0003011
hpo_term: Abnormality of the musculature
chpo_term: 肌肉组织异常
id: HP:0003119
hpo_term: Abnormal circulating lipid concentration
chpo_term: 脂代谢异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0100679
hpo_term: Lack of skin elasticity
chpo_term: 皮肤弹性缺乏
Disease (ORPHA:289494):
4H leukodystrophy
POLR-related leukodystrophy

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:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0006808
hpo_term: Cerebral hypomyelination
chpo_term: 脑髓鞘形成减少
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
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:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0000570
hpo_term: Abnormal saccadic eye movements
chpo_term: 眼球扫视运动异常
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
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:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002926
hpo_term: Abnormality of thyroid physiology
chpo_term: 甲状腺生理功能异常
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0031206
hpo_term: Striatal T2 hyperintensity
chpo_term: 纹状体T2高信号
Disease (ORPHA:2835):
Zori-Stalker-Williams syndrome
Pectus excavatum-macrocephaly-dysplastic nails syndrome

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
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:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
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:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010669
hpo_term: Hypoplasia of the zygomatic bone
chpo_term: 颧骨发育不良
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
Disease (ORPHA:2836):
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
PEHO syndrome

Associated phenotypes (HPO):
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000177
hpo_term: Abnormality of upper lip
chpo_term: 上唇异常
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
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:0002132
hpo_term: Porencephalic cyst
chpo_term: 脑穿通性囊肿
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004422
hpo_term: Biparietal narrowing
chpo_term: 双侧顶骨部收窄
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012398
hpo_term: Peripheral edema
chpo_term: 周围性水肿
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿
Disease (ORPHA:2838):
Renal caliceal diverticuli-deafness syndrome
Renal caliceal diverticuli-hearing loss syndrome

Associated phenotypes (HPO):
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0010935
hpo_term: Abnormality of the upper urinary tract
chpo_term: 上尿路异常
Disease (ORPHA:2839):
Scapuloiliac dysostosis
Pelvis-shoulder dysplasia
Kosenow syndrome

Associated phenotypes (HPO):
id: HP:0005775
hpo_term: Multiple skeletal anomalies
chpo_term: 多发性骨骼异常
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000171
hpo_term: Microglossia
chpo_term: 小舌畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000480
hpo_term: Retinal coloboma
chpo_term: 视网膜缺损
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000890
hpo_term: Long clavicles
chpo_term: 长锁骨
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001591
hpo_term: Bell-shaped thorax
chpo_term: 钟形胸
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002324
hpo_term: Hydranencephaly
chpo_term: 积水型无脑畸形
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0003173
hpo_term: Hypoplastic pubic bone
chpo_term: 耻骨发育不全
id: HP:0003175
hpo_term: Hypoplastic ischia
chpo_term: 坐骨发育不全
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005026
hpo_term: Mesomelic/rhizomelic limb shortening
chpo_term: 肢体中部/根部短缩
id: HP:0005613
hpo_term: Aplasia/hypoplasia of the femur
chpo_term: 股骨发育不良/发育不全
id: HP:0005769
hpo_term: Fifth finger distal phalanx clinodactyly
chpo_term: 第五指末节指骨弯曲
id: HP:0006077
hpo_term: Absent proximal finger flexion creases
chpo_term: 手指近端屈曲褶痕缺如
id: HP:0006492
hpo_term: Aplasia/Hypoplasia of the fibula
chpo_term: 腓骨发育不良/发育不全
id: HP:0006710
hpo_term: Aplasia/Hypoplasia of the clavicles
chpo_term: 锁骨发育不良/发育不全
id: HP:0006712
hpo_term: Aplasia/Hypoplasia of the ribs
chpo_term: 肋骨发育不良/发育不全
id: HP:0006713
hpo_term: Aplasia/Hypoplasia of the scapulae
chpo_term: 肩胛骨发育不良/发育不全
id: HP:0007633
hpo_term: Bilateral microphthalmos
chpo_term: 双侧小眼畸形
id: HP:0008472
hpo_term: Prominent protruding coccyx
chpo_term: 尾骨突出
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0008807
hpo_term: Acetabular dysplasia
chpo_term: 髋臼发育不良
id: HP:0008857
hpo_term: Neonatal short-trunk short stature
chpo_term: 新生儿躯干短小
id: HP:0009100
hpo_term: Thick anterior alveolar ridges
chpo_term: 前牙槽嵴厚
id: HP:0009937
hpo_term: Facial hirsutism
chpo_term: 面部多毛症
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:1508):
Coxoauricular syndrome

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常
id: HP:0002823
hpo_term: Abnormality of femur morphology
chpo_term: 股骨形态异常
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
Disease (ORPHA:1506):
Sharma-Kapoor-Ramji syndrome
Thin ribs-tubular bones-dysmorphism syndrome

Associated phenotypes (HPO):
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
Disease (ORPHA:488627):
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0007052
hpo_term: Multifocal cerebral white matter abnormalities
chpo_term: 多灶性脑白质异常
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0012213
hpo_term: Decreased glomerular filtration rate
chpo_term: 肾小球滤过率下降
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001970
hpo_term: Tubulointerstitial nephritis
chpo_term: 肾小管间质性肾炎
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0002193
hpo_term: Pseudobulbar behavioral symptoms
chpo_term: 假性延髓行为症状
id: HP:0002367
hpo_term: Visual hallucinations
chpo_term: 幻视
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0006989
hpo_term: Dysplastic corpus callosum
chpo_term: 胼胝体发育异常
id: HP:0040329
hpo_term: Multifocal hyperintensity of cerebral white matter on MRI
chpo_term: 多灶性脑白质高信号的MRI表现
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
id: HP:0100814
hpo_term: Blue nevus
chpo_term: 蓝痣
Disease (ORPHA:2831):
Rhizomelic dysplasia, Patterson-Lowry type

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
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:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004097
hpo_term: Deviation of finger
chpo_term: 手指偏离
id: HP:0005687
hpo_term: Deformed humeral heads
chpo_term: 肱骨头变形
id: HP:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0100729
hpo_term: Large face
chpo_term: 大脸
Disease (ORPHA:1501):
Adrenocortical carcinoma
ACC

Associated phenotypes (HPO):
id: HP:0006744
hpo_term: Adrenocortical carcinoma
chpo_term: 肾上腺皮质癌
id: HP:0000080
hpo_term: Abnormality of reproductive system physiology
chpo_term: 生殖系统生理机能异常
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000859
hpo_term: Hyperaldosteronism
chpo_term: 醛固酮增多症
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0001065
hpo_term: Striae distensae
chpo_term: 萎缩纹
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0003118
hpo_term: Increased circulating cortisol level
chpo_term: 血皮质醇水平增加
id: HP:0003466
hpo_term: Paradoxical increased cortisol secretion on dexamethasone suppression test
chpo_term: 地塞米松抑制试验皮质醇分泌反常增加
id: HP:0004324
hpo_term: Increased body weight
chpo_term: 体重增加
id: HP:0011748
hpo_term: Adrenocorticotropic hormone deficiency
chpo_term: 促肾上腺皮质激素不足
id: HP:0012030
hpo_term: Increased urinary cortisol level
chpo_term: 尿皮质醇水平增高
id: HP:0025134
hpo_term: Increased serum estradiol
chpo_term: 血清雌二醇增多
id: HP:0025269
hpo_term: Panic attack
chpo_term: 惊恐发作（急性焦虑发作）
id: HP:0025380
hpo_term: Increased circulating androstenedione concentration
chpo_term: 血液雄烯二酮升高
id: HP:0025436
hpo_term: Elevated serum 11-deoxycortisol
chpo_term: 血清11-脱氧皮质醇升高
id: HP:0030078
hpo_term: Lung adenocarcinoma
chpo_term: 肺腺癌
id: HP:0030348
hpo_term: Increased circulating androgen concentration
chpo_term: 循环雄激素浓度增加
id: HP:0500022
hpo_term: Abnormal circulating dehydroepiandrosterone concentration
chpo_term: 血液脱氢表雄酮水平异常
id: HP:0003110
hpo_term: Abnormality of urine homeostasis
chpo_term: 尿稳态平衡异常
Disease (ORPHA:288):
HE
Hereditary elliptocytosis

Associated phenotypes (HPO):
id: HP:0001877
hpo_term: Abnormal erythrocyte morphology
chpo_term: 红细胞形态异常
id: HP:0004445
hpo_term: Elliptocytosis
chpo_term: 椭圆形红细胞增多症
id: HP:0005502
hpo_term: Increased red cell osmotic fragility
chpo_term: 红细胞渗透脆性增加
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0003265
hpo_term: Neonatal hyperbilirubinemia
chpo_term: 新生儿高胆红素血症
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0004446
hpo_term: Stomatocytosis
chpo_term: 口形红细胞增多症
id: HP:0004447
hpo_term: Poikilocytosis
chpo_term: 异形性红细胞
id: HP:0004804
hpo_term: Congenital hemolytic anemia
chpo_term: 先天性溶血性贫血
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0025143
hpo_term: Chills
chpo_term: 寒栗
Disease (ORPHA:79503):
Ichthyosis hystrix of Curth-Macklin
Ichthyosis hystrix, Curth-Macklin type

Associated phenotypes (HPO):
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0007447
hpo_term: Diffuse palmoplantar hyperkeratosis
chpo_term: 弥漫性掌跖角化过度
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0007460
hpo_term: Autoamputation of digits
chpo_term: 手指（足趾）自发性离断
id: HP:0011889
hpo_term: Bleeding with minor or no trauma
chpo_term: 轻微或无创伤出血
Disease (ORPHA:276193):
SCA35
Spinocerebellar ataxia type 35

Associated phenotypes (HPO):
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
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:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
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:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
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:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000641
hpo_term: Dysmetric saccades
chpo_term: 不规则扫视
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0007024
hpo_term: Pseudobulbar paralysis
chpo_term: 假性球麻痹
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病