TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:93352):
SEMD, Shohat type
Spondyloepimetaphyseal dysplasia, Shohat type

Associated phenotypes (HPO):
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003088
hpo_term: Premature osteoarthritis
chpo_term: 早发性关节炎
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0006462
hpo_term: Generalized bone demineralization
chpo_term: 广泛性骨矿质密度降低
id: HP:0008463
hpo_term: Central vertebral hypoplasia
chpo_term: 环椎发育不良
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001602
hpo_term: Laryngeal stenosis
chpo_term: 喉狭窄
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0002663
hpo_term: Delayed epiphyseal ossification
chpo_term: 骨骺骨化延迟
id: HP:0002777
hpo_term: Tracheal stenosis
chpo_term: 气管狭窄
id: HP:0002781
hpo_term: Upper airway obstruction
chpo_term: 上气道阻塞
id: HP:0002953
hpo_term: Vertebral compression fracture
chpo_term: 椎体压缩性骨折
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0003099
hpo_term: Fibular overgrowth
chpo_term: 腓骨过度生长
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0008418
hpo_term: Squared-off platyspondyly
chpo_term: 方形扁平椎
id: HP:0008450
hpo_term: Narrow vertebral interpedicular distance
chpo_term: 椎弓根间隙变窄
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0025426
hpo_term: Abnormal bronchus morphology
chpo_term: 支气管形态异常
Disease (ORPHA:411629):
Infantile nephropathic cystinosis

Associated phenotypes (HPO):
id: HP:0000124
hpo_term: Renal tubular dysfunction
chpo_term: 肾小管功能障碍
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:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001941
hpo_term: Acidosis
chpo_term: 酸中毒
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0001969
hpo_term: Abnormal tubulointerstitial morphology
chpo_term: 肾小管间质形态异常
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:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0003109
hpo_term: Hyperphosphaturia
chpo_term: 高磷酸盐尿症
id: HP:0003111
hpo_term: Abnormal blood ion concentration
chpo_term: 离子稳态平衡异常
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:0004918
hpo_term: Hyperchloremic metabolic acidosis
chpo_term: 高氯性代谢性酸中毒
id: HP:0100511
hpo_term: Abnormality of vitamin D metabolism
chpo_term: 维生素D代谢异常
id: HP:0000481
hpo_term: Abnormal cornea morphology
chpo_term: 角膜形态异常
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0002926
hpo_term: Abnormality of thyroid physiology
chpo_term: 甲状腺生理功能异常
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:2414):
Pulmonary lymphangiomatosis
Congenital pulmonary lymphangiectasia

Associated phenotypes (HPO):
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0006510
hpo_term: Chronic pulmonary obstruction
chpo_term: 慢性阻塞性肺疾病
id: HP:0011852
hpo_term: Chylopericardium
chpo_term: 乳糜心包
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
Disease (ORPHA:93356):
SEMD type 2
Spondyloepimetaphyseal dysplasia type 2
Spondyloepimetaphyseal dysplasia, Missouri type
SEMD, Missouri type

Associated phenotypes (HPO):
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0003071
hpo_term: Flattened epiphysis
chpo_term: 扁平骨骺
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0004566
hpo_term: Pear-shaped vertebrae
chpo_term: 梨形椎骨
id: HP:0005086
hpo_term: Knee osteoarthritis
chpo_term: 膝关节骨性关节炎
id: HP:0006385
hpo_term: Short lower limbs
chpo_term: 下肢短
id: HP:0010585
hpo_term: Small epiphyses
chpo_term: 小骨骺
id: HP:0025369
hpo_term: Thick growth plates
chpo_term: 生长板增厚
Disease (ORPHA:2400):
Peripheral motor neuropathy-dysautonomia syndrome
Lisker-Garcia-Ramos syndrome

Associated phenotypes (HPO):
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001063
hpo_term: Acrocyanosis
chpo_term: 手足发绀
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002571
hpo_term: Achalasia
chpo_term: 贲门失弛缓症
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
Disease (ORPHA:163690):
HCS
Hypotonia-cystinuria syndrome

Associated phenotypes (HPO):
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
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:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0003131
hpo_term: Cystinuria
chpo_term: 胱氨酸尿症
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
Disease (ORPHA:34145):
Berger disease
IgA nephropathy
Immunoglobulin A nephropathy

Associated phenotypes (HPO):
id: HP:0000794
hpo_term: IgA deposition in the glomerulus
chpo_term: 肾小球IgA沉积
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0002907
hpo_term: Microscopic hematuria
chpo_term: 镜下血尿症
id: HP:0012587
hpo_term: Macroscopic hematuria
chpo_term: 肉眼血尿
id: HP:0012595
hpo_term: Mild proteinuria
chpo_term: 轻度蛋白尿
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000099
hpo_term: Glomerulonephritis
chpo_term: 肾小球肾炎
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0002608
hpo_term: Celiac disease
chpo_term: 乳糜泻
id: HP:0003261
hpo_term: Increased circulating IgA level
chpo_term: 循环IgA升高
id: HP:0030830
hpo_term: Crackles
chpo_term: 肺啰音
id: HP:0031504
hpo_term: Foamy urine
chpo_term: 泡沫尿
id: HP:0033316
hpo_term: Glomerular crescent formation
chpo_term: 肾小球新月体形成
id: HP:0012593
hpo_term: Nephrotic range proteinuria
chpo_term: 肾性蛋白尿排泄增高
Disease (ORPHA:2408):
Lowe-Kohn-Cohen syndrome
Hearing loss-nephritis-ano-rectal malformation syndrome
Deafness-nephritis-ano-rectal malformation syndrome

Associated phenotypes (HPO):
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0012732
hpo_term: Anorectal anomaly
chpo_term: 肛肠异常
Disease (ORPHA:2407):
Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
Shabbir syndrome
LOGIC syndrome
Laryngo-onycho-cutaneous syndrome
LOC syndrome

Associated phenotypes (HPO):
id: HP:0001607
hpo_term: Subglottic stenosis
chpo_term: 声门下狭窄
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0005348
hpo_term: Inspiratory stridor
chpo_term: 吸气性喘鸣
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0012804
hpo_term: Corneal ulceration
chpo_term: 角膜溃疡
id: HP:0100803
hpo_term: Abnormality of the periungual region
chpo_term: 甲周异常
id: HP:0200020
hpo_term: Corneal erosion
chpo_term: 角膜糜烂
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
id: HP:0430007
hpo_term: Symblepharon
chpo_term: 睑球粘连
id: HP:6000956
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0004840
hpo_term: Hypochromic microcytic anemia
chpo_term: 低色素性小红细胞性贫血
id: HP:0008777
hpo_term: Abnormal vocal cord morphology
chpo_term: 声带形态异常
Disease (ORPHA:2406):
Locked-in syndrome
LIS
Pseudocoma

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0002425
hpo_term: Anarthria
chpo_term: 构音障碍
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
id: HP:0003781
hpo_term: Excessive salivation
chpo_term: 唾液分泌过多
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
Disease (ORPHA:93346):
Spondyloepimetaphyseal dysplasia congenita, Strudwick type

Associated phenotypes (HPO):
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0045060
hpo_term: Aplasia/hypoplasia involving bones of the extremities
chpo_term: 四肢骨发育不良/发育不全
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
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:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003173
hpo_term: Hypoplastic pubic bone
chpo_term: 耻骨发育不全
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0008462
hpo_term: Cervical instability
chpo_term: 颈椎不稳
id: HP:0010585
hpo_term: Small epiphyses
chpo_term: 小骨骺
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0100569
hpo_term: Abnormally ossified vertebrae
chpo_term: 椎骨异常骨化
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001216
hpo_term: Delayed ossification of carpal bones
chpo_term: 腕骨骨化延迟
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
id: HP:0002795
hpo_term: Abnormal respiratory system physiology
chpo_term: 呼吸系统生理异常
id: HP:0005193
hpo_term: Restricted large joint movement
chpo_term: 大关节运动受限
id: HP:0008755
hpo_term: Laryngotracheomalacia
chpo_term: 喉气管软化
id: HP:0008800
hpo_term: Limited hip movement
chpo_term: 髋部运动受限
id: HP:0009800
hpo_term: Maternal diabetes
chpo_term: 母体糖尿病
Disease (ORPHA:163693):
2p21 microdeletion syndrome
2p21 deletion syndrome
Monosomy 2p21
Del(2)(p21)

Associated phenotypes (HPO):
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
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:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003131
hpo_term: Cystinuria
chpo_term: 胱氨酸尿症
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0200125
hpo_term: Mitochondrial respiratory chain defects
chpo_term: 线粒体呼吸链缺陷
Disease (ORPHA:420561):
Temple-Baraitser syndrome
Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome
TMBTS

Associated phenotypes (HPO):
id: HP:0010803
hpo_term: Everted upper lip vermilion
chpo_term: 上唇唇红外翻
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0012553
hpo_term: Hypoplastic thumbnail
chpo_term: 拇指甲发育不全
id: HP:0012555
hpo_term: Absent nail of hallux
chpo_term: 拇趾甲缺失
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
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:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0001847
hpo_term: Long hallux
chpo_term: 长拇趾
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
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:0010624
hpo_term: Aplastic/hypoplastic toenail
chpo_term: 趾甲发育缺陷/不全
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0012443
hpo_term: Abnormality of brain morphology
chpo_term: 脑形态学异常
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
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: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:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001802
hpo_term: Absent toenail
chpo_term: 趾甲缺损
id: HP:0001804
hpo_term: Hypoplastic fingernail
chpo_term: 指甲发育不良
id: HP:0006016
hpo_term: Delayed phalangeal epiphyseal ossification
chpo_term: 指骨骨骺骨化延迟
id: HP:0009648
hpo_term: Triangular shaped distal phalanx of the thumb
chpo_term: 拇指三角形末节指骨
id: HP:0009660
hpo_term: Short phalanx of the thumb
chpo_term: 拇指指骨缩短
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0009928
hpo_term: Thick nasal alae
chpo_term: 鼻翼增厚
Disease (ORPHA:231393):
Beta-thalassemia-X-linked thrombocytopenia syndrome
XLTT

Associated phenotypes (HPO):
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0011869
hpo_term: Abnormal platelet function
chpo_term: 血小板功能异常
id: HP:0011902
hpo_term: Abnormal hemoglobin
chpo_term: 血红蛋白异常
Disease (ORPHA:397725):
NBIA6
CoPAN
COASY protein-associated neurodegeneration
Neurodegeneration with brain iron accumulation due to COASY mutation

Associated phenotypes (HPO):
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0002339
hpo_term: Abnormal caudate nucleus morphology
chpo_term: 尾状核形态异常
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002453
hpo_term: Abnormal globus pallidus morphology
chpo_term: 苍白球形态异常
id: HP:0002454
hpo_term: Eye of the tiger anomaly of globus pallidus
chpo_term: 苍白球虎眼征
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0010663
hpo_term: Abnormality of thalamus morphology
chpo_term: 丘脑形态异常
id: HP:0010994
hpo_term: Abnormal corpus striatum morphology
chpo_term: 纹状体形态异常
id: HP:0012048
hpo_term: Oromandibular dystonia
chpo_term: 口下颌肌张力障碍
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:280763):
AP4 deficiency syndrome
Severe intellectual disability and progressive spastic paraplegia

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0007020
hpo_term: Progressive spastic paraplegia
chpo_term: 进行性痉挛性截瘫
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000297
hpo_term: Facial hypotonia
chpo_term: 面部肌张力低下
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
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:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002464
hpo_term: Spastic dysarthria
chpo_term: 痉挛性构音障碍
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0010803
hpo_term: Everted upper lip vermilion
chpo_term: 上唇唇红外翻
id: HP:0025502
hpo_term: Overweight
chpo_term: 超重
id: HP:0100962
hpo_term: Shyness
chpo_term: 害羞
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0002761
hpo_term: Generalized joint laxity
chpo_term: 周身关节松弛
id: HP:0002816
hpo_term: Genu recurvatum
chpo_term: 膝反屈
id: HP:0008807
hpo_term: Acetabular dysplasia
chpo_term: 髋臼发育不良
Disease (ORPHA:100924):
Porphyria due to ALAD deficiency
Porphyria due to delta-aminolevulinate dehydratase deficiency
Porphyria of Doss
ALAD porphyria
Porphyria due to ALA dehydratase deficiency

Associated phenotypes (HPO):
id: HP:0040322
hpo_term: Purple urine
chpo_term: 紫色尿液
id: HP:0010472
hpo_term: Abnormal circulating porphyrin concentration
chpo_term: 血红素生物合成途径异常
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:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000711
hpo_term: Restlessness
chpo_term: 坐立不安
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0031258
hpo_term: Delirium
chpo_term: 谵妄
id: HP:0007159
hpo_term: Fluctuations in consciousness
chpo_term: 意识波动
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0100852
hpo_term: Abnormal fear/anxiety-related behavior
chpo_term: 恐惧/焦虑相关行为异常
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0007178
hpo_term: Motor polyneuropathy
chpo_term: 多发性运动神经病
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0011121
hpo_term: Abnormality of skin morphology
chpo_term: 皮肤形态异常
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0005547
hpo_term: Myeloproliferative disorder
chpo_term: 骨髓增生性疾病
id: HP:0012217
hpo_term: Increased urinary porphobilinogen
chpo_term: 尿液胆色素原增高
id: HP:0012187
hpo_term: Increased erythrocyte protoporphyrin concentration
chpo_term: 红细胞原卟啉浓度增高
id: HP:0033010
hpo_term: Increased fecal coproporphyrin 3
chpo_term: 粪卟啉3增多
id: HP:0030272
hpo_term: Abnormal erythrocyte enzyme level
chpo_term: 红细胞酶水平异常
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0005946
hpo_term: Ventilator dependence with inability to wean
chpo_term: 呼吸机依赖无法脱机
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩