TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:163665):
Spondyloepiphyseal dysplasia tarda, Kohn type

Associated phenotypes (HPO):
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0002815
hpo_term: Abnormality of the knee
chpo_term: 膝关节异常
id: HP:0002867
hpo_term: Abnormal ilium morphology
chpo_term: 髂骨形态异常
id: HP:0003028
hpo_term: Abnormality of the ankles
chpo_term: 脚踝异常
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0003521
hpo_term: Disproportionate short-trunk short stature
chpo_term: 不成比例的短躯干性矮小
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005193
hpo_term: Restricted large joint movement
chpo_term: 大关节运动受限
id: HP:0010665
hpo_term: Bilateral coxa valga
chpo_term: 双侧髋外翻
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
Disease (ORPHA:411641):
Adult-onset cystinosis
Non-nephropathic cystinosis
Ocular cystinosis

Associated phenotypes (HPO):
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000531
hpo_term: Corneal crystals
chpo_term: 角膜结晶
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0032639
hpo_term: Elevated leukocyte cystine
chpo_term: 白细胞胱氨酸升高
Disease (ORPHA:466794):
SCAR21
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Autosomal recessive spinocerebellar ataxia type 21

Associated phenotypes (HPO):
id: HP:0000641
hpo_term: Dysmetric saccades
chpo_term: 不规则扫视
id: HP:0001152
hpo_term: Saccadic smooth pursuit
chpo_term: 扫视平滑追视
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:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0006554
hpo_term: Acute hepatic failure
chpo_term: 急性肝功能衰竭
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0009055
hpo_term: Generalized limb muscle atrophy
chpo_term: 广泛性四肢肌肉萎缩
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0025268
hpo_term: Stuttering
chpo_term: 口吃
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
Disease (ORPHA:37202):
IC/BPS
Bladder pain syndrome
IC/PBS
Interstitial cystitis
Interstitial cystitis/bladder pain syndrome
Interstitial cystitis/painful bladder syndrome
Painful bladder syndrome

Associated phenotypes (HPO):
id: HP:0000009
hpo_term: Functional abnormality of the bladder
chpo_term: 膀胱功能异常
id: HP:0000012
hpo_term: Urinary urgency
chpo_term: 尿急
id: HP:0000014
hpo_term: Abnormality of the bladder
chpo_term: 膀胱异常
id: HP:0000017
hpo_term: Nocturia
chpo_term: 夜尿症
id: HP:0000058
hpo_term: Abnormal labia morphology
chpo_term: 阴唇形态异常
id: HP:0000078
hpo_term: Abnormality of the genital system
chpo_term: 生殖系统异常
id: HP:0000140
hpo_term: Abnormality of the menstrual cycle
chpo_term: 月经周期异常
id: HP:0000795
hpo_term: Abnormality of the urethra
chpo_term: 尿道异常
id: HP:0030016
hpo_term: Dyspareunia
chpo_term: 性交疼痛
id: HP:0034267
hpo_term: Pelvic pain
chpo_term: 骨盆痛
id: HP:0100515
hpo_term: Pollakisuria
chpo_term: 尿频
id: HP:0100518
hpo_term: Dysuria
chpo_term: 排尿困难
id: HP:0100577
hpo_term: Urinary bladder inflammation
chpo_term: 膀胱炎
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0011118
hpo_term: Abnormality of tumor necrosis factor secretion
chpo_term: 肿瘤坏死因子分泌异常
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0000142
hpo_term: Abnormal vagina morphology
chpo_term: 阴道形态异常
id: HP:0500005
hpo_term: Anal pain
chpo_term: 肛门疼痛
Disease (ORPHA:93333):
Pelviscapular dysplasia
Cousin syndrome
Familial pelvis-scapular dysplasia

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000882
hpo_term: Hypoplastic scapulae
chpo_term: 肩胛骨发育不全
id: HP:0000946
hpo_term: Hypoplastic ilia
chpo_term: 髂骨发育不全
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0003041
hpo_term: Humeroradial synostosis
chpo_term: 肱桡骨性融合
id: HP:0003097
hpo_term: Short femur
chpo_term: 短股骨
id: HP:0003943
hpo_term: Abnormality of the joint spaces of the elbow
chpo_term: 肘关节关节间隙异常
id: HP:0004987
hpo_term: Mesomelic leg shortening
chpo_term: 腿中段缩短
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0002693
hpo_term: Abnormality of the skull base
chpo_term: 颅底异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0005989
hpo_term: Redundant neck skin
chpo_term: 颈部皮肤增厚
Disease (ORPHA:498359):
Aquagenic palmoplantar keratoderma
Aquagenic wrinkling of the palms
Transient reactive papulotranslucent acrokeratoderma
Aquagenic syringeal acrokeratoderma
Aquagenic keratoderma

Associated phenotypes (HPO):
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0007407
hpo_term: Excessive skin wrinkling on dorsum of hands and fingers
chpo_term: 手背和指背部皱褶过多
id: HP:0007410
hpo_term: Palmoplantar hyperhidrosis
chpo_term: 掌跖多汗症
id: HP:0025080
hpo_term: Orthokeratotic hyperkeratosis
chpo_term: 正角化过度
id: HP:0031248
hpo_term: Palmar pruritus
chpo_term: 手掌瘙痒症
id: HP:0031289
hpo_term: White papule
chpo_term: 白色丘疹
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0005425
hpo_term: Recurrent sinopulmonary infections
chpo_term: 反复鼻窦及肺感染
id: HP:0006261
hpo_term: Abnormal phalangeal joint morphology of the hand
chpo_term: 指（趾）骨关节形态异常
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
Disease (ORPHA:93328):
Autosomal dominant omodysplasia

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:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
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:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002999
hpo_term: Patellar dislocation
chpo_term: 髌骨脱位
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0010034
hpo_term: Short 1st metacarpal
chpo_term: 第一掌骨短
Disease (ORPHA:93329):
Micromelic dysplasia-dislocation of radius syndrome
Autosomal recessive omodysplasia

Associated phenotypes (HPO):
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002818
hpo_term: Abnormal morphology of the radius
chpo_term: 桡骨形态异常
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005025
hpo_term: Hypoplastic distal humeri
chpo_term: 肱骨远端发育不良
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002823
hpo_term: Abnormality of femur morphology
chpo_term: 股骨形态异常
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0001059
hpo_term: Pterygium
chpo_term: 翼状胬肉
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0010880
hpo_term: Increased nuchal translucency
chpo_term: 颈部透明层厚度增加
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
Disease (ORPHA:411634):
Juvenile nephropathic cystinosis
Intermediate cystinosis
Juvenile cystinosis

Associated phenotypes (HPO):
id: HP:0000481
hpo_term: Abnormal cornea morphology
chpo_term: 角膜形态异常
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000114
hpo_term: Proximal tubulopathy
chpo_term: 近端肾小管病
id: HP:0000531
hpo_term: Corneal crystals
chpo_term: 角膜结晶
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001994
hpo_term: Renal Fanconi syndrome
chpo_term: 肾范可尼综合征
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0003126
hpo_term: Low-molecular-weight proteinuria
chpo_term: 低分子量蛋白尿
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
id: HP:0000117
hpo_term: Renal phosphate wasting
chpo_term: 肾源性磷酸盐流失
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0002907
hpo_term: Microscopic hematuria
chpo_term: 镜下血尿症
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0003537
hpo_term: Hypouricemia
chpo_term: 低尿酸血症
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0010639
hpo_term: Elevated alkaline phosphatase of bone origin
chpo_term: 骨源性碱性磷酸酶升高
id: HP:0012598
hpo_term: Abnormal urine potassium concentration
chpo_term: 尿钾浓度异常
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0032639
hpo_term: Elevated leukocyte cystine
chpo_term: 白细胞胱氨酸升高
id: HP:0100512
hpo_term: Low levels of vitamin D
chpo_term: 维生素D缺乏症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003472
hpo_term: Hypocalcemic tetany
chpo_term: 低钙搐搦
id: HP:0011106
hpo_term: Hypovolemia
chpo_term: 血容量不足
id: HP:0011314
hpo_term: Abnormal long bone morphology
chpo_term: 长骨形态异常
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
Disease (ORPHA:93320):
Isolated ulnar hemimelia
Isolated ulnar deficiency of forearm
Isolated ulnar longitudinal meromelia
Isolated congenital longitudinal deficiency of the ulna
Isolated ulnar clubhand

Associated phenotypes (HPO):
id: HP:0006495
hpo_term: Aplasia/Hypoplasia of the ulna
chpo_term: 尺骨发育不良/发育不全
id: HP:0009380
hpo_term: Aplasia of the fingers
chpo_term: 手指发育不全
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲
id: HP:0002996
hpo_term: Limited elbow movement
chpo_term: 肘运动受限
id: HP:0003059
hpo_term: Abnormality of the radioulnar joints
chpo_term: 桡尺关节异常
id: HP:0004059
hpo_term: Radial club hand
chpo_term: 桡偏畸形手
id: HP:0005773
hpo_term: Short forearm
chpo_term: 前臂短
id: HP:0006055
hpo_term: Ulnar deviated club hands
chpo_term: 向尺骨偏离的曲棍球棒样手
id: HP:0040070
hpo_term: Abnormal upper limb bone morphology
chpo_term: 上肢骨骼形态异常
id: HP:0000882
hpo_term: Hypoplastic scapulae
chpo_term: 肩胛骨发育不全
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0003041
hpo_term: Humeroradial synostosis
chpo_term: 肱桡骨性融合
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0003316
hpo_term: Butterfly vertebrae
chpo_term: 蝴蝶椎
id: HP:0003887
hpo_term: Abnormal humeral head morphology
chpo_term: 肱骨头形态异常
id: HP:0003967
hpo_term: Sclerotic forearm bones
chpo_term: 前臂骨硬化
id: HP:0005879
hpo_term: Congenital finger flexion contractures
chpo_term: 先天性手指屈曲挛缩
id: HP:0006376
hpo_term: Limited elbow flexion
chpo_term: 屈肘受限
id: HP:0006467
hpo_term: Limited shoulder movement
chpo_term: 肩部活动受限
id: HP:0006633
hpo_term: Glenoid fossa hypoplasia
chpo_term: 关节窝发育不全
id: HP:0009164
hpo_term: Abnormal calcification of the carpal bones
chpo_term: 腕骨钙化异常
id: HP:0009238
hpo_term: Aplasia of the 5th finger
chpo_term: 第五指发育不全
id: HP:0009281
hpo_term: Aplasia of the 4th finger
chpo_term: 第四指发育不全
id: HP:0009471
hpo_term: Contracture of the proximal interphalangeal joint of the 3rd finger
chpo_term: 第三指近端指间关节挛缩
id: HP:0009701
hpo_term: Metacarpal synostosis
chpo_term: 掌骨骨性融合
id: HP:0009702
hpo_term: Carpal synostosis
chpo_term: 腕骨骨性融合
id: HP:0009760
hpo_term: Antecubital pterygium
chpo_term: 肘前翼状胬肉
id: HP:0009813
hpo_term: Upper limb phocomelia
chpo_term: 上肢短肢畸形
id: HP:0009959
hpo_term: Duplication of phalanx of 3rd finger
chpo_term: 第三指指骨重复
id: HP:0010011
hpo_term: Abnormal 3rd metacarpal morphology
chpo_term: 第三掌骨形态异常
id: HP:0010048
hpo_term: Aplasia of metacarpal bones
chpo_term: 掌骨不发育
id: HP:0010176
hpo_term: Curved toe phalanx
chpo_term: 趾骨弯曲
id: HP:0010301
hpo_term: Spinal dysraphism
chpo_term: 椎管闭合不全
id: HP:0010331
hpo_term: Aplasia/Hypoplasia of the 3rd toe
chpo_term: 第三趾趾骨发育不良/发育不全
id: HP:0030835
hpo_term: Elbow pain
chpo_term: 手肘痛
id: HP:0100558
hpo_term: Hemiatrophy of upper limb
chpo_term: 上肢偏侧萎缩
id: HP:0100745
hpo_term: Abnormality of the humeroulnar joint
chpo_term: 肱尺关节异常
Disease (ORPHA:93321):
Isolated radial club hand
Isolated congenital longitudinal deficiency of the radius
Isolated radial hemimelia
Isolated radial longitidinal meromelia
Isolated radial ray agenesis

Associated phenotypes (HPO):
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
id: HP:0001172
hpo_term: Abnormal thumb morphology
chpo_term: 拇指形态异常
id: HP:0004243
hpo_term: Abnormality of the scaphoid
chpo_term: 舟骨异常
id: HP:0004252
hpo_term: Abnormality of the trapezium
chpo_term: 大多角骨异常
id: HP:0009484
hpo_term: Deviation of the hand or of fingers of the hand
chpo_term: 手部或手指骨偏斜
id: HP:0010035
hpo_term: Aplasia of the 1st metacarpal
chpo_term: 第一掌骨发育不全
Disease (ORPHA:93324):
Autosomal recessive Kenny-Caffey syndrome

Associated phenotypes (HPO):
id: HP:0002199
hpo_term: Hypocalcemic seizures
chpo_term: 低钙发作
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0008198
hpo_term: Congenital hypoparathyroidism
chpo_term: 先天性甲状旁腺功能减退症
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003472
hpo_term: Hypocalcemic tetany
chpo_term: 低钙搐搦
id: HP:0004331
hpo_term: Decreased skull ossification
chpo_term: 颅骨骨化减少
id: HP:0005450
hpo_term: Calvarial osteosclerosis
chpo_term: 颅骨硬化
id: HP:0005791
hpo_term: Cortical thickening of long bone diaphyses
chpo_term: 长骨骨干皮质增厚
id: HP:0006470
hpo_term: Thin long bone diaphyses
chpo_term: 长骨骨干纤细
id: HP:0006645
hpo_term: Thin clavicles
chpo_term: 锁骨细小
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0100254
hpo_term: Stenosis of the medullary cavity of the long bones
chpo_term: 长骨髓腔狭窄
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
Disease (ORPHA:93325):
Autosomal dominant Kenny-Caffey syndrome

Associated phenotypes (HPO):
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005791
hpo_term: Cortical thickening of long bone diaphyses
chpo_term: 长骨骨干皮质增厚
id: HP:0100254
hpo_term: Stenosis of the medullary cavity of the long bones
chpo_term: 长骨髓腔狭窄
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
id: HP:0002199
hpo_term: Hypocalcemic seizures
chpo_term: 低钙发作
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002905
hpo_term: Hyperphosphatemia
chpo_term: 高磷血症
id: HP:0003472
hpo_term: Hypocalcemic tetany
chpo_term: 低钙搐搦
id: HP:0004331
hpo_term: Decreased skull ossification
chpo_term: 颅骨骨化减少
id: HP:0005450
hpo_term: Calvarial osteosclerosis
chpo_term: 颅骨硬化
id: HP:0005490
hpo_term: Postnatal macrocephaly
chpo_term: 出生后巨头畸形
id: HP:0006470
hpo_term: Thin long bone diaphyses
chpo_term: 长骨骨干纤细
id: HP:0007633
hpo_term: Bilateral microphthalmos
chpo_term: 双侧小眼畸形
id: HP:0007862
hpo_term: Retinal calcification
chpo_term: 视网膜钙化
id: HP:0008198
hpo_term: Congenital hypoparathyroidism
chpo_term: 先天性甲状旁腺功能减退症
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0030346
hpo_term: Abnormal circulating follicle-stimulating hormone concentration
chpo_term: 循环促卵泡激素浓度异常
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0006335
hpo_term: Persistence of primary teeth
chpo_term: 乳牙存留
Disease (ORPHA:93322):
Isolated congenital absence of tibia
Isolated congenital aplasia and dysplasia of the tibia with intact fibula
Isolated tibial longitudinal meromelia
Isolated congenital longitudinal deficiency of the tibia
Isolated tibial hemimelia

Associated phenotypes (HPO):
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0009556
hpo_term: Absent tibia
chpo_term: 胫骨缺如
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0004987
hpo_term: Mesomelic leg shortening
chpo_term: 腿中段缩短
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0001849
hpo_term: Foot oligodactyly
chpo_term: 少趾畸形
id: HP:0003974
hpo_term: Absent radius
chpo_term: 桡骨缺如
id: HP:0004059
hpo_term: Radial club hand
chpo_term: 桡偏畸形手
id: HP:0005736
hpo_term: Short tibia
chpo_term: 短胫骨
id: HP:0005892
hpo_term: Proximal tibial and fibular fusion
chpo_term: 胫腓骨近端融合
id: HP:0006426
hpo_term: Rudimentary to absent tibiae
chpo_term: 胫骨发育不良以至缺如
id: HP:0006460
hpo_term: Increased laxity of ankles
chpo_term: 脚踝松弛度增加
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0010037
hpo_term: Aplasia of the 2nd metacarpal
chpo_term: 第二掌骨发育不全
id: HP:0010043
hpo_term: Aplasia of the 4th metacarpal
chpo_term: 第四掌骨不发育
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0010554
hpo_term: Cutaneous finger syndactyly
chpo_term: 手指皮肤性并指
id: HP:0012165
hpo_term: Oligodactyly
chpo_term: 少指（趾）畸形
id: HP:0012386
hpo_term: Absent hallux
chpo_term: 拇趾缺失
id: HP:0030032
hpo_term: Partial absence of foot
chpo_term: 足部分缺如
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
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:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
Disease (ORPHA:512260):
Congenital cerebellar ataxia due to RNU12 mutation

Associated phenotypes (HPO):
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:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
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:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0012759
hpo_term: Neurodevelopmental abnormality
chpo_term: 神经发育异常
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
Disease (ORPHA:508410):
Familial intestinal malrotation

Associated phenotypes (HPO):
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0002580
hpo_term: Volvulus
chpo_term: 肠扭转
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
Disease (ORPHA:280785):
Bullous diffuse cutaneous mastocytosis
Bullous DCM

Associated phenotypes (HPO):
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:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0005587
hpo_term: Profuse pigmented skin lesions
chpo_term: 泛发性色素性皮损
id: HP:0006543
hpo_term: Cardiorespiratory arrest
chpo_term: 心跳呼吸骤停
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0200151
hpo_term: Cutaneous mastocytosis
chpo_term: 皮肤肥大细胞增多症