TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:614702):
Combined oxidative phosphorylation deficiency 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10

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:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
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:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0003348
hpo_term: Hyperalaninemia
chpo_term: 高丙氨酸血症
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0011924
hpo_term: Decreased activity of mitochondrial complex III
chpo_term: 线粒体复合物III活性降低
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
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:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:618138):
Muscular dystrophy, limb-girdle, autosomal recessive 23
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23

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:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:6000659
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0040078
hpo_term: Axonal degeneration
chpo_term: 轴索变性
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
id: HP:0003722
hpo_term: Neck flexor weakness
chpo_term: 颈屈肌无力
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0031237
hpo_term: Internally nucleated skeletal muscle fibers
chpo_term: 骨骼肌纤维中细胞核内聚
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0003710
hpo_term: Exercise-induced muscle cramps
chpo_term: 运动引起的肌肉痉挛
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
Disease (OMIM:616115):
Familial cold autoinflammatory syndrome 4
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4

Associated phenotypes (HPO):
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619226):
BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA
Blistering, acantholytic, of oral and laryngeal mucosa

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0031446
hpo_term: Erosion of oral mucosa
chpo_term: 口腔黏膜糜烂
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
Disease (OMIM:232240):
Glycogen storage disease Ic
GLYCOGEN STORAGE DISEASE Ic

Associated phenotypes (HPO):
id: HP:0002884
hpo_term: Hepatoblastoma
chpo_term: 肝母细胞瘤
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0410175
hpo_term: Hyperketonemia
chpo_term: 高酮血症
id: HP:0012522
hpo_term: Spider hemangioma
chpo_term: 蜘蛛痣
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001946
hpo_term: Ketosis
chpo_term: 酮症
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0000991
hpo_term: Xanthomatosis
chpo_term: 黄瘤病
id: HP:0000097
hpo_term: Focal segmental glomerulosclerosis
chpo_term: 局灶节段性肾小球硬化
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0012213
hpo_term: Decreased glomerular filtration rate
chpo_term: 肾小球滤过率下降
id: HP:0006280
hpo_term: Chronic pancreatitis
chpo_term: 慢性胰腺炎
id: HP:0040289
hpo_term: Cyclic neutropenia
chpo_term: 周期性中性粒细胞减少症
id: HP:0010280
hpo_term: Stomatitis
chpo_term: 口腔炎
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0001114
hpo_term: Xanthelasma
chpo_term: 睑黄瘤
id: HP:0002723
hpo_term: Absence of bactericidal oxidative respiratory burst in phagocytes
chpo_term: 吞噬细胞中杀菌性氧化呼吸爆发的缺失
id: HP:0001997
hpo_term: Gout
chpo_term: 痛风
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
Disease (OMIM:619232):
Bile acid conjugation defect 1
BILE ACID CONJUGATION DEFECT 1

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
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:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
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:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
Disease (OMIM:609021):
Peripheral cone dystrophy
PERIPHERAL CONE DYSTROPHY

Associated phenotypes (HPO):
id: HP:0007769
hpo_term: Peripheral retinal degeneration
chpo_term: 周边视网膜变性
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0007761
hpo_term: Pericentral scotoma
chpo_term: 中央周围暗点
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000548
hpo_term: Cone/cone-rod dystrophy
chpo_term: 锥杆细胞营养不良
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0030528
hpo_term: Paracentral scotoma
chpo_term: 旁中央暗点
Disease (OMIM:164900):
OPHTHALMOMANDIBULOMELIC DYSPLASIA
Ophthalmomandibulomelic dysplasia

Associated phenotypes (HPO):
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
id: HP:0006439
hpo_term: Radioulnar dislocation
chpo_term: 尺桡关节脱位
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0000485
hpo_term: Megalocornea
chpo_term: 巨角膜
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0012478
hpo_term: Temporomandibular joint ankylosis
chpo_term: 颞下颌关节强直
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0006055
hpo_term: Ulnar deviated club hands
chpo_term: 向尺骨偏离的曲棍球棒样手
id: HP:0006441
hpo_term: Lateral humeral condyle aplasia
chpo_term: 肱骨外侧髁发育不全
id: HP:0006169
hpo_term: Decreased mobility 3rd-5th fingers
chpo_term: 第三至第五指灵活度降低
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
Disease (OMIM:613079):
DEAFNESS, AUTOSOMAL RECESSIVE 77
Deafness, autosomal recessive 77

Associated phenotypes (HPO):
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:618892):
Harderoporphyria
HARDEROPORPHYRIA

Associated phenotypes (HPO):
id: HP:0033627
hpo_term: Increased urine harderoporphyrin level
chpo_term: 尿硬卟啉水平升高
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0003265
hpo_term: Neonatal hyperbilirubinemia
chpo_term: 新生儿高胆红素血症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0012217
hpo_term: Increased urinary porphobilinogen
chpo_term: 尿液胆色素原增高
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0034472
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0040318
hpo_term: Red urine
chpo_term: 红色尿液
Disease (OMIM:300580):
Myopathy, congenital, with fiber-type disproportion, X-linked
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, X-LINKED

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0008935
hpo_term: Generalized neonatal hypotonia
chpo_term: 全身性新生儿肌张力低下
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0004661
hpo_term: Frontalis muscle weakness
chpo_term: 额肌乏力
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0003755
hpo_term: Type 1 fibers relatively smaller than type 2 fibers
chpo_term: 1型纤维相对于2型纤维小
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:617592):
SPERMATOGENIC FAILURE 19
Spermatogenic failure 19

Associated phenotypes (HPO):
id: HP:0032560
hpo_term: Coiled sperm flagella
chpo_term: 精子鞭毛卷曲
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:0012207
hpo_term: Reduced sperm motility
chpo_term: 精子活力降低
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:616854):
EVEN-PLUS SYNDROME
Even-Plus syndrome

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0006989
hpo_term: Dysplastic corpus callosum
chpo_term: 胼胝体发育异常
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0001057
hpo_term: Aplasia cutis congenita
chpo_term: 先天性表皮发育不全
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000456
hpo_term: Bifid nasal tip
chpo_term: 鼻尖裂
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0010575
hpo_term: Dysplasia of the femoral head
chpo_term: 股骨头发育不良
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003417
hpo_term: Coronal cleft vertebrae
chpo_term: 冠状位脊柱裂
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0008428
hpo_term: Vertebral clefting
chpo_term: 椎体裂
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
Disease (OMIM:618879):
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures

Associated phenotypes (HPO):
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
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:0003282
hpo_term: Low alkaline phosphatase
chpo_term: 低碱性磷酸酶
id: HP:0041048
hpo_term: Decreased expression of GPI-anchored proteins on the cell surface
chpo_term: 细胞表面GPI锚定蛋白表达降低
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0008593
hpo_term: Prominent antitragus
chpo_term: 对耳屏突出
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
Disease (OMIM:400042):
SPERMATOGENIC FAILURE, Y-LINKED, 1
Spermatogenic failure, Y-linked, 1

Associated phenotypes (HPO):
id: HP:0001450
hpo_term: Y-linked inheritance
chpo_term: Y-连锁遗传
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:0012207
hpo_term: Reduced sperm motility
chpo_term: 精子活力降低
Disease (OMIM:604288):
CARDIOMYOPATHY, DILATED, 1H
Cardiomyopathy, dilated, 1H

Associated phenotypes (HPO):
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:122000):
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1
Corneal dystrophy, posterior polymorphous, 1

Associated phenotypes (HPO):
id: HP:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:0001089
hpo_term: Iris atrophy
chpo_term: 虹膜萎缩
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0000585
hpo_term: Band keratopathy
chpo_term: 带状角膜病
id: HP:0007915
hpo_term: Polymorphous posterior corneal dystrophy
chpo_term: 多形性后角膜营养不良
id: HP:0009918
hpo_term: Ectopia pupillae
chpo_term: 瞳孔异位
id: HP:0011488
hpo_term: Abnormal corneal endothelium morphology
chpo_term: 角膜内皮形态异常
id: HP:0031159
hpo_term: Thinning of Descemet membrane
chpo_term: 后弹力层变薄
id: HP:0011490
hpo_term: Abnormal Descemet membrane morphology
chpo_term: 角膜后弹力层形态异常
id: HP:0011483
hpo_term: Anterior synechiae of the anterior chamber
chpo_term: 前房前粘连
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0025358
hpo_term: Uveal ectropion
chpo_term: 葡萄膜外翻
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
Disease (OMIM:613092):
Tubulointerstitial kidney disease, autosomal dominant, 4
TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4

Associated phenotypes (HPO):
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0005576
hpo_term: Tubulointerstitial fibrosis
chpo_term: 肾小管间质纤维化
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000097
hpo_term: Focal segmental glomerulosclerosis
chpo_term: 局灶节段性肾小球硬化
id: HP:0004719
hpo_term: Hyperechogenic kidneys
chpo_term: 肾脏回声增强
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000092
hpo_term: Renal tubular atrophy
chpo_term: 肾小管萎缩
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
Disease (OMIM:311300):
Otopalatodigital syndrome, type I
OTOPALATODIGITAL SYNDROME, TYPE I

Associated phenotypes (HPO):
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001476
hpo_term: Delayed closure of the anterior fontanelle
chpo_term: 前囟闭合延迟
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:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001571
hpo_term: Multiple impacted teeth
chpo_term: 多个阻生齿
id: HP:0001592
hpo_term: Selective tooth agenesis
chpo_term: 选择性牙齿发育不全
id: HP:0010047
hpo_term: Short 5th metacarpal
chpo_term: 第五掌骨短小
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0005090
hpo_term: Lateral femoral bowing
chpo_term: 股骨外侧弯曲
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0002737
hpo_term: Thick skull base
chpo_term: 厚颅底
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0009642
hpo_term: Broad distal phalanx of the thumb
chpo_term: 拇指末节指骨增宽
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0001782
hpo_term: Bulbous tips of toes
chpo_term: 球茎状趾尖
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0004232
hpo_term: Accessory carpal bones
chpo_term: 副腕骨
id: HP:0001241
hpo_term: Capitate-hamate fusion
chpo_term: 头状骨-钩骨融合
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0010041
hpo_term: Short 3rd metacarpal
chpo_term: 第三掌骨短
id: HP:0010044
hpo_term: Short 4th metacarpal
chpo_term: 第四掌骨短
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0008089
hpo_term: Abnormality of the fifth metatarsal bone
chpo_term: 第五跖骨异常
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0008127
hpo_term: Bipartite calcaneus
chpo_term: 二分跟骨
id: HP:0006389
hpo_term: Limited knee flexion
chpo_term: 膝关节屈曲受限
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0009836
hpo_term: Broad distal phalanx of finger
chpo_term: 末节指骨变宽
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
id: HP:0002688
hpo_term: Absent frontal sinuses
chpo_term: 额窦缺如
Disease (OMIM:126500):
Double nail for fifth toe
DOUBLE NAIL FOR FIFTH TOE

Associated phenotypes (HPO):
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620458):
Auriculocondylar syndrome 2B
AURICULOCONDYLAR SYNDROME 2B

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000040
hpo_term: Long penis
chpo_term: 长阴茎
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0011261
hpo_term: Darwin tubercle of helix
chpo_term: 耳轮达尔文结节
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0007628
hpo_term: Mandibular condyle hypoplasia
chpo_term: 下颌骨髁发育不全
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001140
hpo_term: Limbal dermoid
chpo_term: 角膜缘皮样囊肿
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0004451
hpo_term: Postauricular skin tag
chpo_term: 耳后皮赘
id: HP:0030022
hpo_term: Question mark ear
chpo_term: 问号状耳
id: HP:0010536
hpo_term: Central sleep apnea
chpo_term: 中枢性睡眠呼吸暂停
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0003319
hpo_term: Abnormality of the cervical spine
chpo_term: 颈椎异常
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
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
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称