TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:577):
Mucolipidosis type III
Pseudo-Hurler polydystrophy

Associated phenotypes (HPO):
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0003264
hpo_term: Deficiency of N-acetylglucosamine-1-phosphotransferase
chpo_term: N-乙酰氨基葡萄糖胺-1-磷酸转移酶缺陷
id: HP:0003272
hpo_term: Abnormal hip bone morphology
chpo_term: 髋骨形态异常
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:0004493
hpo_term: Craniofacial hyperostosis
chpo_term: 颅面骨骨质增生
id: HP:0008818
hpo_term: Large iliac wing
chpo_term: 大髂骨翼
id: HP:0008821
hpo_term: Hypoplastic inferior ilia
chpo_term: 髂骨发育不良
id: HP:0025261
hpo_term: Stiff finger
chpo_term: 手指僵硬
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000943
hpo_term: Dysostosis multiplex
chpo_term: 多发性骨发育不全
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
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:0009837
hpo_term: Bullet-shaped distal phalanges of the hand
chpo_term: 子弹形末节指骨
id: HP:0012185
hpo_term: Constrictive median neuropathy
chpo_term: 压迫性正中神经病变
id: HP:0012532
hpo_term: Chronic pain
chpo_term: 慢性疼痛
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0034337
hpo_term: Claw hand deformity
chpo_term: 爪形手畸形
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000885
hpo_term: Broad ribs
chpo_term: 宽肋骨
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
Disease (ORPHA:440354):
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0002781
hpo_term: Upper airway obstruction
chpo_term: 上气道阻塞
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000882
hpo_term: Hypoplastic scapulae
chpo_term: 肩胛骨发育不全
id: HP:0000947
hpo_term: Dumbbell-shaped long bone
chpo_term: 哑铃状长骨
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0003097
hpo_term: Short femur
chpo_term: 短股骨
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
Disease (ORPHA:314662):
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia

Associated phenotypes (HPO):
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0009126
hpo_term: Increased adipose tissue
chpo_term: 脂肪组织增多
id: HP:0011276
hpo_term: Vascular skin abnormality
chpo_term: 皮肤血管异常
id: HP:0012032
hpo_term: Lipoma
chpo_term: 脂肪瘤
id: HP:0025104
hpo_term: Capillary malformation
chpo_term: 毛细血管畸形
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0100774
hpo_term: Hyperostosis
chpo_term: 骨质增生
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0010816
hpo_term: Epidermal nevus
chpo_term: 表皮痣
id: HP:0012725
hpo_term: Cutaneous syndactyly
chpo_term: 皮肤性并指畸形
id: HP:0030424
hpo_term: Epididymal cyst
chpo_term: 附睾囊肿
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
Disease (ORPHA:2907):
Weary syndrome
Hereditary acrokeratotic poikiloderma

Associated phenotypes (HPO):
id: HP:0000230
hpo_term: Gingivitis
chpo_term: 牙龈炎
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001810
hpo_term: Dystrophic toenail
chpo_term: 趾甲营养不良
id: HP:0006323
hpo_term: Premature loss of primary teeth
chpo_term: 乳牙过早脱落
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0008391
hpo_term: Dystrophic fingernails
chpo_term: 指甲营养不良
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0002745
hpo_term: Oral leukoplakia
chpo_term: 口腔白斑
id: HP:0010296
hpo_term: Ankyloglossia
chpo_term: 舌系带短缩
id: HP:0100587
hpo_term: Abnormal preputium morphology
chpo_term: 包皮形态异常
id: HP:0100669
hpo_term: Abnormal pigmentation of the oral mucosa
chpo_term: 口腔粘膜色素沉着异常
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0000091
hpo_term: Abnormal renal tubule morphology
chpo_term: 肾小管形态异常
id: HP:0000211
hpo_term: Trismus
chpo_term: 张口受限
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000795
hpo_term: Abnormality of the urethra
chpo_term: 尿道异常
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0001096
hpo_term: Keratoconjunctivitis
chpo_term: 角膜结膜炎
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0003272
hpo_term: Abnormal hip bone morphology
chpo_term: 髋骨形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006740
hpo_term: Transitional cell carcinoma of the bladder
chpo_term: 膀胱移行细胞癌
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0010807
hpo_term: Open bite
chpo_term: 开牙合
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:2908):
Kindler epidermolysis bullosa
Congenital bullous poikiloderma
Kindler syndrome
Poikiloderma of Kindler

Associated phenotypes (HPO):
id: HP:0000230
hpo_term: Gingivitis
chpo_term: 牙龈炎
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000704
hpo_term: Periodontitis
chpo_term: 牙周炎
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0000987
hpo_term: Atypical scarring of skin
chpo_term: 非典型皮肤瘢痕
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001029
hpo_term: Poikiloderma
chpo_term: 皮肤异色症
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0001602
hpo_term: Laryngeal stenosis
chpo_term: 喉狭窄
id: HP:0001741
hpo_term: Phimosis
chpo_term: 包茎
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0002043
hpo_term: Esophageal stricture
chpo_term: 食管狭窄
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0004378
hpo_term: Abnormality of the anus
chpo_term: 肛门异常
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006323
hpo_term: Premature loss of primary teeth
chpo_term: 乳牙过早脱落
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0008388
hpo_term: Abnormal toenail morphology
chpo_term: 趾甲形态异常
id: HP:0010044
hpo_term: Short 4th metacarpal
chpo_term: 第四掌骨短
id: HP:0010047
hpo_term: Short 5th metacarpal
chpo_term: 第五掌骨短小
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012227
hpo_term: Urethral stricture
chpo_term: 尿道狭窄
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100517
hpo_term: Neoplasm of the urethra
chpo_term: 尿道肿瘤
id: HP:0100633
hpo_term: Esophagitis
chpo_term: 食管炎
id: HP:0100825
hpo_term: Cheilitis
chpo_term: 唇炎
Disease (ORPHA:289176):
ARHR
Autosomal recessive hypophosphatemic rickets

Associated phenotypes (HPO):
id: HP:0004912
hpo_term: Hypophosphatemic rickets
chpo_term: 低磷性佝偻病
id: HP:0000117
hpo_term: Renal phosphate wasting
chpo_term: 肾源性磷酸盐流失
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0002814
hpo_term: Abnormality of the lower limb
chpo_term: 下肢异常
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0003020
hpo_term: Enlargement of the wrists
chpo_term: 手腕膨大
id: HP:0003109
hpo_term: Hyperphosphaturia
chpo_term: 高磷酸盐尿症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004576
hpo_term: Sclerotic vertebral endplates
chpo_term: 椎体终板硬化
id: HP:0005096
hpo_term: Distal femoral bowing
chpo_term: 股骨远端弯曲
id: HP:0005764
hpo_term: Polyarticular arthritis
chpo_term: 多发性关节炎
id: HP:0006463
hpo_term: Rickets of the lower limbs
chpo_term: 下肢佝偻病
id: HP:0008732
hpo_term: Renal hypophosphatemia
chpo_term: 肾性低磷血症
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:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0011036
hpo_term: Abnormality of renal excretion
chpo_term: 肾排泄异常
id: HP:0012052
hpo_term: Low serum calcitriol
chpo_term: 低血清骨化三醇（1,25-二羟基胆钙化醇）
id: HP:0100511
hpo_term: Abnormality of vitamin D metabolism
chpo_term: 维生素D代谢异常
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
id: HP:0100671
hpo_term: Abnormal trabecular bone morphology
chpo_term: 骨小梁形态异常
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0003416
hpo_term: Spinal canal stenosis
chpo_term: 椎管狭窄
id: HP:0030757
hpo_term: Tooth abscess
chpo_term: 牙脓肿
id: HP:0100036
hpo_term: Pseudo-fractures
chpo_term: 假骨折
id: HP:0100686
hpo_term: Enthesitis
chpo_term: 附着点炎
id: HP:0100781
hpo_term: Abnormal sacroiliac joint morphology
chpo_term: 骶髂关节形态异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003472
hpo_term: Hypocalcemic tetany
chpo_term: 低钙搐搦
Disease (ORPHA:2912):
Poliomyelitis

Associated phenotypes (HPO):
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0009004
hpo_term: Hypoplasia of the musculature
chpo_term: 肌肉组织发育不全
id: HP:0010547
hpo_term: Muscle flaccidity
chpo_term: 肌无力
id: HP:0011805
hpo_term: Abnormal skeletal muscle morphology
chpo_term: 骨骼肌形态异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012486
hpo_term: Myelitis
chpo_term: 脊髓炎
id: HP:0025258
hpo_term: Stiff neck
chpo_term: 颈部僵硬
id: HP:0025439
hpo_term: Pharyngitis
chpo_term: 咽炎
id: HP:0031469
hpo_term: Low self esteem
chpo_term: 低自尊
id: HP:0040131
hpo_term: Abnormal motor nerve conduction velocity
chpo_term: 运动神经传导速度异常
id: HP:0001283
hpo_term: Bulbar palsy
chpo_term: 球麻痹
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002374
hpo_term: Diminished movement
chpo_term: 运动减少
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0002385
hpo_term: Paraparesis
chpo_term: 下肢轻瘫
id: HP:0002483
hpo_term: Bulbar signs
chpo_term: 球部体征
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002590
hpo_term: Paralytic ileus
chpo_term: 麻痹性肠梗阻
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0004887
hpo_term: Respiratory failure requiring assisted ventilation
chpo_term: 呼吸衰竭，需要辅助通气
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0030196
hpo_term: Fatigable weakness of respiratory muscles
chpo_term: 呼吸肌疲劳性无力
id: HP:0030813
hpo_term: Absent tonsils
chpo_term: 扁桃体缺如
id: HP:0031058
hpo_term: Impairment of activities of daily living
chpo_term: 日常生活活动障碍
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0031274
hpo_term: Hypovolemic shock
chpo_term: 血量减少性休克
Disease (ORPHA:2916):
Postaxial polydactyly-dental and vertebral anomalies syndrome

Associated phenotypes (HPO):
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001572
hpo_term: Macrodontia
chpo_term: 巨牙
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0002948
hpo_term: Vertebral fusion
chpo_term: 椎体融合
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0008479
hpo_term: Hypoplastic vertebral bodies
chpo_term: 椎体发育不良
id: HP:0009738
hpo_term: Abnormal antihelix morphology
chpo_term: 对耳轮形态异常
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:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0009906
hpo_term: Aplasia/Hypoplasia of the earlobes
chpo_term: 耳垂发育缺陷/不全
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000632
hpo_term: Lacrimation abnormality
chpo_term: 泪液分泌异常
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
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:0005988
hpo_term: Congenital muscular torticollis
chpo_term: 先天性肌性斜颈
id: HP:0010935
hpo_term: Abnormality of the upper urinary tract
chpo_term: 上尿路异常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100672
hpo_term: Vaginal hernia
chpo_term: 阴道疝
Disease (ORPHA:268249):
Mycophenolate mofetil embryopathy
MMF embryopathy

Associated phenotypes (HPO):
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
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:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000625
hpo_term: Eyelid coloboma
chpo_term: 眼睑缺损
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0001829
hpo_term: Foot polydactyly
chpo_term: 多趾
id: HP:0002006
hpo_term: Facial cleft
chpo_term: 面裂
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0002779
hpo_term: Tracheomalacia
chpo_term: 气管软化
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0008437
hpo_term: Bifid thoracic vertebrae
chpo_term: 胸椎纵裂
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0009892
hpo_term: Anotia
chpo_term: 无耳畸形
id: HP:0011803
hpo_term: Bifid nose
chpo_term: 鼻裂
Disease (ORPHA:33001):
Lymphedema-distichiasis syndrome

Associated phenotypes (HPO):
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0003550
hpo_term: Predominantly lower limb lymphedema
chpo_term: 主要累及下肢的淋巴水肿
id: HP:0009743
hpo_term: Distichiasis
chpo_term: 双行睫
id: HP:0200020
hpo_term: Corneal erosion
chpo_term: 角膜糜烂
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002619
hpo_term: Varicose veins
chpo_term: 静脉曲张
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000075
hpo_term: Renal duplication
chpo_term: 肾重复
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001970
hpo_term: Tubulointerstitial nephritis
chpo_term: 肾小管间质性肾炎
id: HP:0004930
hpo_term: Abnormality of the pulmonary vasculature
chpo_term: 肺血管异常
id: HP:0009745
hpo_term: Spinal arachnoid cyst
chpo_term: 脊髓蛛网膜囊肿
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100244
hpo_term: Fibrosarcoma
chpo_term: 纤维肉瘤
id: HP:0100820
hpo_term: Glomerulopathy
chpo_term: 肾小球病
Disease (ORPHA:35664):
ALDH18A1-related De Barsy syndrome
Neurocutaneous syndrome, Bicknell type
Delta-1-pyrroline 5-carboxylate synthetase deficiency
P5CS deficiency

Associated phenotypes (HPO):
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
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:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
Disease (ORPHA:2900):
Leri pleonosteosis

Associated phenotypes (HPO):
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001167
hpo_term: Abnormality of finger
chpo_term: 手指异常
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:0002816
hpo_term: Genu recurvatum
chpo_term: 膝反屈
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100679
hpo_term: Lack of skin elasticity
chpo_term: 皮肤弹性缺乏
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0100795
hpo_term: Abnormally straight spine
chpo_term: 脊柱异常变直
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位