TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:616540):
Epilepsy, progressive myoclonic, 9
EPILEPSY, PROGRESSIVE MYOCLONIC, 9

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0000171
hpo_term: Microglossia
chpo_term: 小舌畸形
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:0032327
hpo_term: Interhemispheric cyst
chpo_term: 半球间囊肿
id: HP:0034360
hpo_term: Action myoclonus
chpo_term: 动作性肌阵挛
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:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
Disease (OMIM:619673):
Spermatogenic failure 62
SPERMATOGENIC FAILURE 62

Associated phenotypes (HPO):
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0011961
hpo_term: Non-obstructive azoospermia
chpo_term: 非梗阻性无精症
id: HP:0031039
hpo_term: Early spermatogenesis maturation arrest
chpo_term: 早期生精阻滞
Disease (OMIM:266250):
RADICULONEUROPATHY, FATAL NEONATAL
Radiculoneuropathy, fatal neonatal

Associated phenotypes (HPO):
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0009113
hpo_term: Diaphragmatic weakness
chpo_term: 膈肌无力
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
Disease (OMIM:614431):
VENTRICULAR SEPTAL DEFECT 2
Ventricular septal defect 2

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0011682
hpo_term: Perimembranous ventricular septal defect
chpo_term: 膜周型室间隔缺损
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619115):
COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1

Associated phenotypes (HPO):
id: HP:0001058
hpo_term: Poor wound healing
chpo_term: 伤口愈合不良
id: HP:0031869
hpo_term: Recurrent joint dislocation
chpo_term: 复发性关节脱位
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0010648
hpo_term: Dermal translucency
chpo_term: 半透明状皮肤
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0025019
hpo_term: Arterial rupture
chpo_term: 动脉破裂
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:609306):
SPINOCEREBELLAR ATAXIA 26
Spinocerebellar ataxia 26

Associated phenotypes (HPO):
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001151
hpo_term: Impaired horizontal smooth pursuit
chpo_term: 水平平滑追随眼动受损
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0000641
hpo_term: Dysmetric saccades
chpo_term: 不规则扫视
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:620794):
Deafness, autosomal recessive 124
DEAFNESS, AUTOSOMAL RECESSIVE 124

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
Disease (OMIM:126800):
DUANE RETRACTION SYNDROME 1
Duane retraction syndrome 1

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000661
hpo_term: Palpebral fissure narrowing on adduction
chpo_term: 睑裂内收狭窄
id: HP:0000619
hpo_term: Impaired convergence
chpo_term: 辐凑受损
id: HP:0000634
hpo_term: Impaired ocular abduction
chpo_term: 眼外展障碍
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000542
hpo_term: Impaired ocular adduction
chpo_term: 眼内收障碍
id: HP:0009921
hpo_term: Duane anomaly
chpo_term: Duane 异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619101):
Mismatch repair cancer syndrome 4
MISMATCH REPAIR CANCER SYNDROME 4

Associated phenotypes (HPO):
id: HP:0005227
hpo_term: Adenomatous colonic polyposis
chpo_term: 腺瘤性结肠息肉病
id: HP:0003003
hpo_term: Colon cancer
chpo_term: 结肠癌
id: HP:0009592
hpo_term: Astrocytoma
chpo_term: 星形细胞瘤
id: HP:0012174
hpo_term: Glioblastoma multiforme
chpo_term: 多形性胶质母细胞瘤
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
id: HP:0012539
hpo_term: Non-Hodgkin lymphoma
chpo_term: 非霍奇金淋巴瘤
Disease (OMIM:620780):
Cutis laxa, autosomal recessive, type ID
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID

Associated phenotypes (HPO):
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0010749
hpo_term: Blepharochalasis
chpo_term: 眼皮松弛
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0005214
hpo_term: Intestinal obstruction
chpo_term: 肠梗阻
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0010648
hpo_term: Dermal translucency
chpo_term: 半透明状皮肤
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002580
hpo_term: Volvulus
chpo_term: 肠扭转
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:0100822
hpo_term: Rectocele
chpo_term: 直肠膨出
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0002933
hpo_term: Ventral hernia
chpo_term: 腹疝
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0000015
hpo_term: Bladder diverticulum
chpo_term: 膀胱憩室
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0100808
hpo_term: Gastric diverticulum
chpo_term: 胃憩室
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0002035
hpo_term: Rectal prolapse
chpo_term: 直肠脱垂
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002253
hpo_term: Colonic diverticula
chpo_term: 结肠憩室
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0032446
hpo_term: Pulmonary bulla
chpo_term: 肺大疱
id: HP:0100541
hpo_term: Femoral hernia
chpo_term: 股疝
id: HP:0010811
hpo_term: Narrow uvula
chpo_term: 悬雍垂狭窄
id: HP:0025193
hpo_term: Posterolateral diaphragmatic hernia
chpo_term: 后外侧膈疝
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0100775
hpo_term: Dural ectasia
chpo_term: 硬膜扩张
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0007651
hpo_term: Ectropion of lower eyelids
chpo_term: 下眼睑外翻
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
Disease (OMIM:187770):
Thoracopelvic dysostosis
THORACOPELVIC DYSOSTOSIS

Associated phenotypes (HPO):
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
Disease (OMIM:602247):
Xanthomatosis, susceptibility to
XANTHOMATOSIS, SUSCEPTIBILITY TO

Associated phenotypes (HPO):
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0000991
hpo_term: Xanthomatosis
chpo_term: 黄瘤病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
Disease (OMIM:614343):
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 19
Intellectual developmental disorder, autosomal recessive 19

Associated phenotypes (HPO):
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
Disease (OMIM:610125):
Microphthalmia, syndromic 5
MICROPHTHALMIA, SYNDROMIC 5

Associated phenotypes (HPO):
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
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:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0011755
hpo_term: Ectopic posterior pituitary
chpo_term: 垂体后叶异位
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:617892):
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24
Amyotrophic lateral sclerosis, susceptibility to, 24

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0002340
hpo_term: Caudate atrophy
chpo_term: 尾状核萎缩
id: HP:0002483
hpo_term: Bulbar signs
chpo_term: 球部体征
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0410170
hpo_term: Hippocampal atrophy
chpo_term: 海马萎缩
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0007354
hpo_term: Amyotrophic lateral sclerosis
chpo_term: 肌萎缩侧索硬化
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:120040):
COCHLEOSACCULAR DEGENERATION WITH PROGRESSIVE CATARACTS
Cochleosaccular degeneration of the inner ear with progressive cataracts

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0007834
hpo_term: Progressive cataract
chpo_term: 渐进性白内障
Disease (OMIM:620569):
Leber-like hereditary optic neuropathy, autosomal recessive 2
LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 2

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0025709
hpo_term: Intermediate young adult onset
chpo_term: 青年成人中期起病
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
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:0000576
hpo_term: Centrocecal scotoma
chpo_term: 中央盲点
id: HP:0000642
hpo_term: Red-green dyschromatopsia
chpo_term: 红绿色觉障碍
Disease (OMIM:614814):
ADAMS-OLIVER SYNDROME 3
Adams-Oliver syndrome 3

Associated phenotypes (HPO):
id: HP:0011917
hpo_term: Short 5th toe
chpo_term: 第五趾短
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001057
hpo_term: Aplasia cutis congenita
chpo_term: 先天性表皮发育不全
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0010760
hpo_term: Absent toe
chpo_term: 脚趾缺失
id: HP:0008398
hpo_term: Hypoplastic fifth fingernail
chpo_term: 第5指甲发育不良
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:257270):
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
Night blindness, congenital stationary, type 1B

Associated phenotypes (HPO):
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0012047
hpo_term: Hemeralopia
chpo_term: 昼盲
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:0007642
hpo_term: Congenital stationary night blindness
chpo_term: 先天性静止性夜盲症
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
Disease (OMIM:608583):
Atrial fibrillation, familial, 1
ATRIAL FIBRILLATION, FAMILIAL, 1

Associated phenotypes (HPO):
id: HP:0001727
hpo_term: Thromboembolic stroke
chpo_term: 血栓栓塞性脑卒中
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:205250):
AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES
Amyotrophic lateral sclerosis with polyglucosan bodies

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0002483
hpo_term: Bulbar signs
chpo_term: 球部体征
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0007354
hpo_term: Amyotrophic lateral sclerosis
chpo_term: 肌萎缩侧索硬化
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:618948):
Heterotaxy, visceral, 9, autosomal, with male infertility
HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY

Associated phenotypes (HPO):
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0001746
hpo_term: Asplenia
chpo_term: 无脾
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
Disease (OMIM:245660):
Laryngoonychocutaneous syndrome
LARYNGOONYCHOCUTANEOUS SYNDROME

Associated phenotypes (HPO):
id: HP:0000705
hpo_term: Amelogenesis imperfecta
chpo_term: 牙釉质生长不全
id: HP:0034363
hpo_term: Corneal pterygium
chpo_term: 角膜翼状胬肉
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0430007
hpo_term: Symblepharon
chpo_term: 睑球粘连
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001615
hpo_term: Hoarse cry
chpo_term: 声音嘶哑的哭声
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱
id: HP:0008390
hpo_term: Recurrent loss of toenails and fingernails
chpo_term: 指（趾）甲反复脱落
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:613809):
Retinitis pigmentosa 39
RETINITIS PIGMENTOSA 39

Associated phenotypes (HPO):
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
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:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
Disease (OMIM:145800):
Hypertrophia musculorum vera
HYPERTROPHIA MUSCULORUM VERA

Associated phenotypes (HPO):
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:132450):
Epiphyseal dysplasia, multiple, with myopia and conductive deafness
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS

Associated phenotypes (HPO):
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0030672
hpo_term: Asteroid hyalosis
chpo_term: 星状玻璃体变性
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0030329
hpo_term: Retinal thinning
chpo_term: 视网膜变薄
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
Disease (OMIM:614800):
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
Short stature, optic nerve atrophy, and pelger-huet anomaly

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0011516
hpo_term: Achromatopsia
chpo_term: 色盲
id: HP:0010669
hpo_term: Hypoplasia of the zygomatic bone
chpo_term: 颧骨发育不良
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0200068
hpo_term: Nonprogressive visual loss
chpo_term: 非进行性视力下降
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
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:0002057
hpo_term: Prominent glabella
chpo_term: 眉间突出
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0011447
hpo_term: Hyposegmentation of neutrophil nuclei
chpo_term: 中性粒细胞核低分叶
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:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
Disease (OMIM:108900):
Atrial septal defect with atrioventricular conduction defects
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

Associated phenotypes (HPO):
id: HP:0001682
hpo_term: Subvalvular aortic stenosis
chpo_term: 主动脉瓣下狭窄
id: HP:0001684
hpo_term: Secundum atrial septal defect
chpo_term: 第二房间隔缺损
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0004935
hpo_term: Pulmonary artery atresia
chpo_term: 肺动脉闭锁
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0012248
hpo_term: Prolonged PR interval
chpo_term: PR间期延长
Disease (OMIM:602092):
Deafness, neurosensory, autosomal recessive 18
DEAFNESS, AUTOSOMAL RECESSIVE 18A

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:612281):
Ichthyosis, congenital, autosomal recessive 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0040162
hpo_term: Orthokeratosis
chpo_term: 正角化
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0007479
hpo_term: Congenital nonbullous ichthyosiform erythroderma
chpo_term: 鱼鳞病样红皮病(大疱型)、大疱性鱼鳞病样角化过度症、显性遗传性先天性鱼鳞病、表皮松解性角化过度鱼鳞病
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0007503
hpo_term: Generalized ichthyosis
chpo_term: 泛发性鱼鳞病
id: HP:0007503
hpo_term: Generalized ichthyosis
chpo_term: 泛发性鱼鳞病
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度