TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:126600):
DOYNE HONEYCOMB RETINAL DYSTROPHY
Doyne honeycomb retinal dystrophy

Associated phenotypes (HPO):
id: HP:0007937
hpo_term: Reticular pigmentary degeneration
chpo_term: 网状视网膜色素变性
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
Disease (OMIM:311000):
Ophthalmoplegia, external, and myopia
OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA

Associated phenotypes (HPO):
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0007686
hpo_term: Abnormal pupillary function
chpo_term: 瞳孔功能异常
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0200065
hpo_term: Chorioretinal degeneration
chpo_term: 脉络膜视网膜变性
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0006844
hpo_term: Absent patellar reflexes
chpo_term: 膝反射消失
Disease (OMIM:619867):
Spermatogenic failure 72
SPERMATOGENIC FAILURE 72

Associated phenotypes (HPO):
id: HP:0033393
hpo_term: Irregularly shaped sperm tail
chpo_term: 精子尾部畸形（不规则形状的精子尾）
id: HP:0032560
hpo_term: Coiled sperm flagella
chpo_term: 精子鞭毛卷曲
id: HP:0034011
hpo_term: Reduced progressive sperm motility
chpo_term: 精子前向运动减少
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0033525
hpo_term: Absent sperm axoneme central pair complex
chpo_term: 精子轴丝中心对复合体缺失
id: HP:0032558
hpo_term: Absent sperm flagella
chpo_term: 精子鞭毛缺失
id: HP:0032559
hpo_term: Short sperm flagella
chpo_term: 精子鞭毛短
Disease (OMIM:612932):
GLYCOGEN STORAGE DISEASE XIII
Glycogen storage disease XIII

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:0009051
hpo_term: Increased muscle glycogen content
chpo_term: 肌糖原含量增加
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0034633
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
Disease (OMIM:615085):
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
Osteopetrosis, autosomal recessive 8

Associated phenotypes (HPO):
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011480
hpo_term: Unilateral microphthalmos
chpo_term: 单侧小眼畸形
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011002
hpo_term: Osteopetrosis
chpo_term: 骨硬化
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
Disease (OMIM:612926):
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
Hemolytic uremic syndrome, atypical, susceptibility to, 6

Associated phenotypes (HPO):
id: HP:0005575
hpo_term: Hemolytic-uremic syndrome
chpo_term: 溶血性尿毒症综合征
id: HP:0005421
hpo_term: Decreased serum complement C3
chpo_term: 血清补体C3减少
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0001937
hpo_term: Microangiopathic hemolytic anemia
chpo_term: 微血管病性溶血性贫血
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0100519
hpo_term: Anuria
chpo_term: 无尿症
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003138
hpo_term: Increased blood urea nitrogen
chpo_term: 血液尿素氮升高
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
Disease (OMIM:540000):
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0012377
hpo_term: Hemianopia
chpo_term: 偏盲
id: HP:0001507
hpo_term: Growth abnormality
chpo_term: 生长异常
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0001427
hpo_term: Mitochondrial inheritance
chpo_term: 线粒体遗传
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0005162
hpo_term: Abnormal left ventricular function
chpo_term: 左心室功能异常
id: HP:0000408
hpo_term: Progressive sensorineural hearing impairment
chpo_term: 渐进性感音神经性听力损失
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001716
hpo_term: Wolff-Parkinson-White syndrome
chpo_term: 预激综合征
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0003737
hpo_term: Mitochondrial myopathy
chpo_term: 线粒体肌病
id: HP:0002401
hpo_term: Stroke-like episode
chpo_term: 卒中样发作
Disease (OMIM:605282):
TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME
Temtamy preaxial brachydactyly syndrome

Associated phenotypes (HPO):
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001234
hpo_term: Hitchhiker thumb
chpo_term: “打车手势”拇指
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0011087
hpo_term: Talon cusp
chpo_term: 副牙尖
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0009702
hpo_term: Carpal synostosis
chpo_term: 腕骨骨性融合
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0000699
hpo_term: Diastema
chpo_term: 牙间隙
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
Disease (OMIM:211000):
BLUE DIAPER SYNDROME
Blue diaper syndrome

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0004365
hpo_term: Abnormal circulating tryptophan concentration
chpo_term: 色氨酸代谢异常
id: HP:0001438
hpo_term: Abnormal abdomen morphology
chpo_term: 腹部形态结构异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
Disease (OMIM:130710):
EMPHYSEMA, CONGENITAL LOBAR
Emphysema, congenital lobar

Associated phenotypes (HPO):
id: HP:0006539
hpo_term: Bronchial cartilage hypoplasia
chpo_term: 支气管软骨发育不全
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619873):
Parenti-Mignot neurodevelopmental syndrome
PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
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:0005274
hpo_term: Prominent nasal tip
chpo_term: 鼻尖突出
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0012166
hpo_term: Skin-picking
chpo_term: 皮肤剔除
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:617686):
PITUITARY ADENOMA 3, MULTIPLE TYPES
Pituitary adenoma 3, multiple types, somatic

Associated phenotypes (HPO):
id: HP:0011760
hpo_term: Pituitary growth hormone cell adenoma
chpo_term: 垂体生长激素腺瘤
id: HP:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0003154
hpo_term: Increased circulating ACTH level
chpo_term: 血促肾上腺皮质激素（ACTH）水平升高
id: HP:0033794
hpo_term: Acral overgrowth
chpo_term: 肢端过度生长
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0000845
hpo_term: Elevated circulating growth hormone concentration
chpo_term: 生长激素水平升高
id: HP:0003118
hpo_term: Increased circulating cortisol level
chpo_term: 血皮质醇水平增加
id: HP:0008291
hpo_term: Pituitary corticotropic cell adenoma
chpo_term: 垂体促肾上腺皮质激素腺瘤
Disease (OMIM:215500):
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1
Choroidal dystrophy, central areolar 1

Associated phenotypes (HPO):
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0030491
hpo_term: Choriocapillaris atrophy
chpo_term: 脉络膜毛细血管层萎缩
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
Disease (OMIM:258400):
OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS
Ophthalmoplegia totalis with ptosis and miosis

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000616
hpo_term: Miosis
chpo_term: 瞳孔缩小
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:612098):
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11
Cardiomyopathy, familial hypertrophic, 11

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001663
hpo_term: Ventricular fibrillation
chpo_term: 心室纤颤
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0011711
hpo_term: Left anterior fascicular block
chpo_term: 左前分支传导阻滞
id: HP:0011712
hpo_term: Right bundle branch block
chpo_term: 右束支传导阻滞
id: HP:0011713
hpo_term: Left bundle branch block
chpo_term: 左束支传导阻滞
id: HP:0031971
hpo_term: Subaortic ventricular septal bulge
chpo_term: 主动脉下室间隔隆起
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0004749
hpo_term: Atrial flutter
chpo_term: 心房扑动
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0004756
hpo_term: Ventricular tachycardia
chpo_term: 室性心动过速
Disease (OMIM:614402):
Microphthalmia, syndromic 11
MICROPHTHALMIA, SYNDROMIC 11

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0034396
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0012687
hpo_term: Agenesis of pineal gland
chpo_term: 松果体发育缺失
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
Disease (OMIM:619126):
Immunodeficiency 75
IMMUNODEFICIENCY 75

Associated phenotypes (HPO):
id: HP:0020072
hpo_term: Persistent EBV viremia
chpo_term: 持续性EBV病毒血症
id: HP:0030388
hpo_term: Decreased proportion of class-switched memory B cells
chpo_term: 类别转换型记忆性 B 细胞比例减低
id: HP:0011343
hpo_term: Moderate global developmental delay
chpo_term: 中度全面发育延迟
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:4000057
hpo_term: Decreased FasL-mediated apoptosis
chpo_term: FasL介导的凋亡减少
id: HP:0002729
hpo_term: Follicular hyperplasia
chpo_term: 淋巴滤泡增生
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
Disease (OMIM:618238):
Mitochondrial complex I deficiency, nuclear type 16
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16

Associated phenotypes (HPO):
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002340
hpo_term: Caudate atrophy
chpo_term: 尾状核萎缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0011923
hpo_term: Decreased activity of mitochondrial complex I
chpo_term: 线粒体复合物I活性降低
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0009112
hpo_term: Aplasia of the left hemidiaphragm
chpo_term: 左侧膈肌发育不良
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000846
hpo_term: Adrenal insufficiency
chpo_term: 肾上腺功能不全
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
Disease (OMIM:610102):
COMPLEMENT COMPONENT 7 DEFICIENCY
C7 deficiency

Associated phenotypes (HPO):
id: HP:0005430
hpo_term: Recurrent Neisserial infections
chpo_term: 反复奈瑟氏球菌感染
id: HP:0033058
hpo_term: Decreased serum complement C7
chpo_term: 血清补体 C7 减少
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0005381
hpo_term: Recurrent meningococcal disease
chpo_term: 反复脑膜炎球菌感染
Disease (OMIM:224050):
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1

Associated phenotypes (HPO):
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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: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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0007068
hpo_term: Inferior cerebellar vermis hypoplasia
chpo_term: 下小脑蚓发育不全
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0003680
hpo_term: Nonprogressive
chpo_term: 非进行性
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009878
hpo_term: Cerebellar ataxia associated with quadrupedal gait
chpo_term: 小脑性共济失调与四足步态相关
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
Disease (OMIM:608995):
Dyslexia, susceptibility to, 8
DYSLEXIA, SUSCEPTIBILITY TO, 8

Associated phenotypes (HPO):
id: HP:0010522
hpo_term: Dyslexia
chpo_term: 失读症
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:181440):
Scheuermann disease
SCHEUERMANN DISEASE

Associated phenotypes (HPO):
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0010891
hpo_term: Morbus Scheuermann
chpo_term: Scheuermann病
id: HP:0040188
hpo_term: Osteochondrosis
chpo_term: 骨软骨炎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:125490):
DENTINOGENESIS IMPERFECTA 1
Dentinogenesis imperfecta 1

Associated phenotypes (HPO):
id: HP:0006286
hpo_term: Yellow-brown discoloration of the teeth
chpo_term: 棕黄色牙
id: HP:0000703
hpo_term: Dentinogenesis imperfecta
chpo_term: 牙本质发育不全
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614370):
Surfactant metabolism dysfunction, pulmonary, 5
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5

Associated phenotypes (HPO):
id: HP:0006517
hpo_term: Intraalveolar phospholipid accumulation
chpo_term: 肺泡蛋白沉积症
id: HP:0006517
hpo_term: Intraalveolar phospholipid accumulation
chpo_term: 肺泡蛋白沉积症
id: HP:0020050
hpo_term: Anti-granulocyte-macrophage colony stimulating factor antibody positivity
chpo_term: 抗粒细胞-巨噬细胞集落刺激因子抗体阳性
id: HP:0025179
hpo_term: Ground-glass opacification
chpo_term: 毛玻璃样结构
id: HP:0025179
hpo_term: Ground-glass opacification
chpo_term: 毛玻璃样结构
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0030879
hpo_term: Interlobular septal thickening
chpo_term: 小叶间隔增厚
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
Disease (OMIM:300858):
Mental retardation, X-linked, syndromic 17
MENTAL RETARDATION, X-LINKED, SYNDROMIC 17

Associated phenotypes (HPO):
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0009916
hpo_term: Anisocoria
chpo_term: 瞳孔不等
id: HP:0002571
hpo_term: Achalasia
chpo_term: 贲门失弛缓症
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011733
hpo_term: Abnormality of adrenal physiology
chpo_term: 肾上腺生理异常
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000522
hpo_term: Alacrima
chpo_term: 无泪
Disease (OMIM:606012):
DEAFNESS, AUTOSOMAL DOMINANT 18
Deafness, autosomal dominant 18

Associated phenotypes (HPO):
id: HP:0001730
hpo_term: Progressive hearing impairment
chpo_term: 渐进性听力损失
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619132):
Frontotemporal dementia and/or amytrophic lateral sclerosis 8
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8

Associated phenotypes (HPO):
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002145
hpo_term: Frontotemporal dementia
chpo_term: 额颞叶痴呆
id: HP:0002442
hpo_term: Dyscalculia
chpo_term: 计算困难
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0002185
hpo_term: Neurofibrillary tangles
chpo_term: 神经原纤维缠结
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0033051
hpo_term: Impaired executive functioning
chpo_term: 执行功能受损
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0007354
hpo_term: Amyotrophic lateral sclerosis
chpo_term: 肌萎缩侧索硬化
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传