TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:614098):
Keppen-Lubinsky syndrome
KEPPEN-LUBINSKY SYNDROME

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002781
hpo_term: Upper airway obstruction
chpo_term: 上气道阻塞
id: HP:0003292
hpo_term: Decreased serum leptin
chpo_term: 血清瘦素水平降低
id: HP:0001090
hpo_term: Abnormally large globe
chpo_term: 大眼球
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0009064
hpo_term: Generalized lipodystrophy
chpo_term: 全身脂肪营养不良
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0007485
hpo_term: Absence of subcutaneous fat
chpo_term: 皮下脂肪缺如
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0005328
hpo_term: Progeroid facial appearance
chpo_term: 早衰面容
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
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:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005320
hpo_term: Lack of facial subcutaneous fat
chpo_term: 面部皮下脂肪缺乏
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0009933
hpo_term: Narrow naris
chpo_term: 鼻孔狭窄
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000586
hpo_term: Shallow orbits
chpo_term: 浅眼眶
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000446
hpo_term: Narrow nasal bridge
chpo_term: 鼻梁狭窄
Disease (OMIM:620315):
Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5

Associated phenotypes (HPO):
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0007082
hpo_term: Dilated third ventricle
chpo_term: 第三脑室扩张
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0001355
hpo_term: Megalencephaly
chpo_term: 巨脑
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:6000447
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
Disease (OMIM:618852):
AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY
Autoinflammation with episodic fever and lymphadenopathy

Associated phenotypes (HPO):
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0011110
hpo_term: Recurrent tonsillitis
chpo_term: 复发性扁桃体炎
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0002923
hpo_term: Rheumatoid factor positive
chpo_term: 类风湿因子阳性
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
Disease (OMIM:619594):
EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED
Epidermolysis bullosa simplex 2C, localized

Associated phenotypes (HPO):
id: HP:0025088
hpo_term: Onychomadesis
chpo_term: 脱甲病
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0007446
hpo_term: Palmoplantar blistering
chpo_term: 掌跖起泡
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001810
hpo_term: Dystrophic toenail
chpo_term: 趾甲营养不良
Disease (OMIM:261800):
Pierre Robin syndrome
PIERRE ROBIN SYNDROME

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002781
hpo_term: Upper airway obstruction
chpo_term: 上气道阻塞
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0001648
hpo_term: Cor pulmonale
chpo_term: 肺源性心脏病
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
Disease (OMIM:611876):
Brugada syndrome 4
BRUGADA SYNDROME 4

Associated phenotypes (HPO):
id: HP:0012232
hpo_term: Shortened QT interval
chpo_term: QT间期缩短
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613913):
LIPODYSTROPHY, PARTIAL, ACQUIRED, WITH LOW COMPLEMENT COMPONENT C3, WITH OR WITHOUT GLOMERULONEPHRITIS
Lipodystrophy, partial, acquired, with low complement component C3, with or without glomerulonephritis

Associated phenotypes (HPO):
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000793
hpo_term: Membranoproliferative glomerulonephritis
chpo_term: 膜增生性肾小球肾炎
id: HP:0005421
hpo_term: Decreased serum complement C3
chpo_term: 血清补体C3减少
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0009056
hpo_term: Loss of subcutaneous adipose tissue from upper limbs
chpo_term: 上肢皮下脂肪组织丢失
id: HP:0000292
hpo_term: Loss of facial adipose tissue
chpo_term: 面部脂肪组织丢失
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0009019
hpo_term: Progressive loss of facial adipose tissue
chpo_term: 进行性面部脂肪组织丢失
Disease (OMIM:312150):
MULTIPLE PTERYGIUM SYNDROME, X-LINKED
Multiple pterygium syndrome, X-linked

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002047
hpo_term: Malignant hyperthermia
chpo_term: 恶性高热
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0005905
hpo_term: Abnormal cervical curvature
chpo_term: 颈椎曲度异常
id: HP:0001989
hpo_term: Fetal akinesia sequence
chpo_term: 胎儿运动不能序列征
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0000476
hpo_term: Cystic hygroma
chpo_term: 囊状水瘤
id: HP:0001961
hpo_term: Hypoplastic heart
chpo_term: 心脏发育不全
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001040
hpo_term: Multiple pterygia
chpo_term: 多发翼状胬肉
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0002948
hpo_term: Vertebral fusion
chpo_term: 椎体融合
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0003634
hpo_term: Amyoplasia
chpo_term: 广泛肌肉发育不良
Disease (OMIM:300554):
HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
Hypophosphatemic rickets, X-linked recessive

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0002663
hpo_term: Delayed epiphyseal ossification
chpo_term: 骨骺骨化延迟
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0003013
hpo_term: Bulging epiphyses
chpo_term: 骨骺凸出
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0010502
hpo_term: Fibular bowing
chpo_term: 腓骨弯曲
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0000117
hpo_term: Renal phosphate wasting
chpo_term: 肾源性磷酸盐流失
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0000114
hpo_term: Proximal tubulopathy
chpo_term: 近端肾小管病
id: HP:0004912
hpo_term: Hypophosphatemic rickets
chpo_term: 低磷性佝偻病
id: HP:0002753
hpo_term: Thin bony cortex
chpo_term: 骨皮质薄
id: HP:0003029
hpo_term: Enlargement of the ankles
chpo_term: 脚踝膨大
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002752
hpo_term: Sparse bone trabeculae
chpo_term: 骨小梁稀疏
id: HP:0003126
hpo_term: Low-molecular-weight proteinuria
chpo_term: 低分子量蛋白尿
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0003020
hpo_term: Enlargement of the wrists
chpo_term: 手腕膨大
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0031415
hpo_term: High serum calcitriol
chpo_term: 血清骨化三醇增高
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
Disease (OMIM:618846):
DIETS-JONGMANS SYNDROME
Diets-Jongmans syndrome

Associated phenotypes (HPO):
id: HP:0030853
hpo_term: Heterotaxy
chpo_term: 内脏异位
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0400004
hpo_term: Long ear
chpo_term: 长耳
id: HP:0007074
hpo_term: Thick corpus callosum
chpo_term: 胼胝体增厚
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0011671
hpo_term: Interrupted inferior vena cava with azygous continuation
chpo_term: 下腔静脉中断伴奇静脉延续
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002247
hpo_term: Duodenal atresia
chpo_term: 十二指肠闭锁
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:611863):
Microtia - eye coloboma - imperforation of the nasolacrimal duct
MICROTIA WITH NASOLACRIMAL DUCT IMPERFORATION AND EYE COLOBOMA

Associated phenotypes (HPO):
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:254110):
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8
Muscular dystrophy, limb-girdle, type 2H

Associated phenotypes (HPO):
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003731
hpo_term: Quadriceps muscle weakness
chpo_term: 股四头肌无力
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0003707
hpo_term: Calf muscle pseudohypertrophy
chpo_term: 小腿肌肉假性肥大
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0003749
hpo_term: Pelvic girdle muscle weakness
chpo_term: 骨盆带肌无力
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0007126
hpo_term: Proximal amyotrophy
chpo_term: 近端肌萎缩
id: HP:0003547
hpo_term: Shoulder girdle muscle weakness
chpo_term: 肩胛带肌肉无力
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003724
hpo_term: Shoulder girdle muscle atrophy
chpo_term: 肩胛带肌肉萎缩
id: HP:0003722
hpo_term: Neck flexor weakness
chpo_term: 颈屈肌无力
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0003738
hpo_term: Exercise-induced myalgia
chpo_term: 运动诱发的肌肉痛
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0008988
hpo_term: Pelvic girdle muscle atrophy
chpo_term: 骨盆带肌萎缩
Disease (OMIM:171300):
PHEOCHROMOCYTOMA

Associated phenotypes (HPO):
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0003345
hpo_term: Elevated urinary norepinephrine
chpo_term: 尿去甲肾上腺素浓度增高
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0003574
hpo_term: Positive regitine blocking test
chpo_term: 酚妥拉明阻断试验阳性
id: HP:0001095
hpo_term: Hypertensive retinopathy
chpo_term: 高血压性视网膜病变
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000875
hpo_term: Episodic hypertension
chpo_term: 阵发性高血压
id: HP:0001920
hpo_term: Renal artery stenosis
chpo_term: 肾动脉狭窄
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0002666
hpo_term: Pheochromocytoma
chpo_term: 嗜铬细胞瘤
Disease (OMIM:618847):
IMMUNODEFICIENCY 66
Immunodeficiency 66

Associated phenotypes (HPO):
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0031379
hpo_term: Abnormal T cell proliferation
chpo_term: T细胞异常增殖
id: HP:0410017
hpo_term: Otitis externa
chpo_term: 外耳炎
Disease (OMIM:620300):
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2
Mitochondrial trifunctional protein deficiency 2

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003652
hpo_term: Recurrent myoglobinuria
chpo_term: 复发性肌红蛋白尿
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002913
hpo_term: Myoglobinuria
chpo_term: 肌红蛋白尿
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:4000141
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0031185
hpo_term: Increased circulating NT-proBNP concentration
chpo_term: NT-proBNP水平增高
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
Disease (OMIM:300555):
Dent disease 2
DENT DISEASE 2

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003126
hpo_term: Low-molecular-weight proteinuria
chpo_term: 低分子量蛋白尿
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0000114
hpo_term: Proximal tubulopathy
chpo_term: 近端肾小管病
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
Disease (OMIM:236795):
3-hydroxyisobutyric aciduria
3-HYDROXYISOBUTYRIC ACIDURIA

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0005974
hpo_term: Episodic ketoacidosis
chpo_term: 阵发性酸中毒
id: HP:0001993
hpo_term: Ketoacidosis
chpo_term: 酮症酸中毒
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0006906
hpo_term: Congenital intracerebral calcification
chpo_term: 先天性脑内钙化
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
Disease (OMIM:613912):
Complement factor D deficiency
COMPLEMENT FACTOR D DEFICIENCY

Associated phenotypes (HPO):
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008338
hpo_term: Partial functional complement factor D deficiency
chpo_term: 补体因子D部分功能缺乏
Disease (OMIM:123320):
CREATINE PHOSPHOKINASE, ELEVATED SERUM
Creatine phosphokinase, elevated serum

Associated phenotypes (HPO):
id: HP:0004303
hpo_term: Abnormal muscle fiber morphology
chpo_term: 肌纤维形态异常
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003750
hpo_term: Increased muscle fatiguability
chpo_term: 肌肉易疲劳
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0009071
hpo_term: Inflammatory myopathy
chpo_term: 炎症性肌病
id: HP:0003737
hpo_term: Mitochondrial myopathy
chpo_term: 线粒体肌病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003710
hpo_term: Exercise-induced muscle cramps
chpo_term: 运动引起的肌肉痉挛
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
Disease (OMIM:619595):
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000629
hpo_term: Periorbital fullness
chpo_term: 眶周丰满
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突