TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:614831):
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13
Spinocerebellar ataxia, autosomal recessive 13

Associated phenotypes (HPO):
id: HP:0007979
hpo_term: Gaze-evoked horizontal nystagmus
chpo_term: 凝视诱发水平眼震
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
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: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:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0007068
hpo_term: Inferior cerebellar vermis hypoplasia
chpo_term: 下小脑蚓发育不全
id: HP:0006951
hpo_term: Retrocerebellar cyst
chpo_term: Retrocerebellar囊肿
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:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000571
hpo_term: Hypometric saccades
chpo_term: 扫视不到位
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002198
hpo_term: Dilated fourth ventricle
chpo_term: 第四脑室扩张
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:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:242670):
Ciliary dyskinesia with defective radial spokes
CILIARY DYSKINESIA WITH DEFECTIVE RADIAL SPOKES

Associated phenotypes (HPO):
id: HP:0002795
hpo_term: Abnormal respiratory system physiology
chpo_term: 呼吸系统生理异常
id: HP:0002257
hpo_term: Chronic rhinitis
chpo_term: 慢性鼻炎
id: HP:0012265
hpo_term: Ciliary dyskinesia
chpo_term: 纤毛运动异常
id: HP:0012267
hpo_term: Absent respiratory ciliary axoneme radial spokes
chpo_term: 纤毛轴丝径向轮辐缺失
id: HP:0012263
hpo_term: Immotile cilia
chpo_term: 不动纤毛
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0100582
hpo_term: Nasal polyposis
chpo_term: 鼻息肉
id: HP:0012208
hpo_term: Immotile sperm
chpo_term: 不动精子症
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
Disease (OMIM:611961):
STEVENSON-CAREY SYNDROME
Stevenson-Carey syndrome

Associated phenotypes (HPO):
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0005274
hpo_term: Prominent nasal tip
chpo_term: 鼻尖突出
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
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:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0007110
hpo_term: Central hypoventilation
chpo_term: 中枢性低通气
id: HP:0011670
hpo_term: Left superior vena cava draining to coronary sinus
chpo_term: 左上腔静脉接冠状窦
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:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
Disease (OMIM:614819):
WEILL-MARCHESANI SYNDROME 3
Weill-Marchesani syndrome 3

Associated phenotypes (HPO):
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0000594
hpo_term: Shallow anterior chamber
chpo_term: 浅前房
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0030961
hpo_term: Microspherophakia
chpo_term: 小球形晶状体
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
Disease (OMIM:613810):
Retinitis pigmentosa 43
RETINITIS PIGMENTOSA 43

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:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
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:0007994
hpo_term: Peripheral visual field loss
chpo_term: 周边视野缺失
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007787
hpo_term: Posterior subcapsular cataract
chpo_term: 后囊下白内障
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:619483):
Central hypoventilation syndrome, congenital, 3
CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3

Associated phenotypes (HPO):
id: HP:0002046
hpo_term: Heat intolerance
chpo_term: 不耐热
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0007110
hpo_term: Central hypoventilation
chpo_term: 中枢性低通气
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0000875
hpo_term: Episodic hypertension
chpo_term: 阵发性高血压
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:214350):
CHANDS
CHAND SYNDROME

Associated phenotypes (HPO):
id: HP:0002212
hpo_term: Curly hair
chpo_term: 卷曲样发
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009755
hpo_term: Ankyloblepharon
chpo_term: 睑缘粘连
id: HP:0002710
hpo_term: Commissural lip pit
chpo_term: 口角小窝
Disease (OMIM:616968):
DEAFNESS, AUTOSOMAL DOMINANT 70
Deafness, autosomal dominant 70

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
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: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:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:618951):
Combined oxidative phosphorylation deficiency 45
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008347
hpo_term: Decreased activity of mitochondrial complex IV
chpo_term: 线粒体复合物IV活性降低
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:613804):
Meier-Gorlin syndrome 4
MEIER-GORLIN SYNDROME 4

Associated phenotypes (HPO):
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:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003561
hpo_term: Birth length less than 3rd percentile
chpo_term: 出生身长小于第3百分位数
id: HP:0003187
hpo_term: Breast hypoplasia
chpo_term: 乳房发育不良
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0002097
hpo_term: Emphysema
chpo_term: 气肿
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002816
hpo_term: Genu recurvatum
chpo_term: 膝反屈
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006443
hpo_term: Patellar aplasia
chpo_term: 髌骨发育不全
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000895
hpo_term: Lateral clavicle hook
chpo_term: 锁骨外侧钩
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:123550):
CRYOGLOBULINEMIA, FAMILIAL MIXED
Cryoglobulinemia, familial mixed

Associated phenotypes (HPO):
id: HP:0012211
hpo_term: Abnormal renal physiology
chpo_term: 肾脏生理异常
id: HP:0001871
hpo_term: Abnormality of blood and blood-forming tissues
chpo_term: 血液和造血组织异常
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0100778
hpo_term: Cryoglobulinemia
chpo_term: 冷球蛋白血症
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0012050
hpo_term: Anasarca
chpo_term: 全身水肿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
Disease (OMIM:620570):
CILIARY DYSKINESIA, PRIMARY, 52
Ciliary dyskinesia, primary, 52

Associated phenotypes (HPO):
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0003363
hpo_term: Abdominal situs inversus
chpo_term: 腹部内脏逆位
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011567
hpo_term: Sinus venosus atrial septal defect
chpo_term: 静脉窦型房间隔缺损
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0034315
hpo_term: Chronic cough
chpo_term: 慢性咳嗽
id: HP:0011553
hpo_term: Discordant atrioventricular connection
chpo_term: 房室连接不协调
id: HP:0031565
hpo_term: Abdominal situs ambiguus
chpo_term: 内脏位置异常
id: HP:0005160
hpo_term: Total anomalous pulmonary venous return
chpo_term: 完全性肺静脉回流异常
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0011560
hpo_term: Mitral atresia
chpo_term: 二尖瓣闭锁
id: HP:0001669
hpo_term: Transposition of the great arteries
chpo_term: 大动脉转位
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
Disease (OMIM:119800):
CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY
Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0003065
hpo_term: Patellar hypoplasia
chpo_term: 髌骨发育不全
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0009099
hpo_term: Median cleft palate
chpo_term: 正中腭裂
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0010691
hpo_term: Mirror image foot polydactyly
chpo_term: 镜像多趾
id: HP:0003826
hpo_term: Stillbirth
chpo_term: 死胎
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0009556
hpo_term: Absent tibia
chpo_term: 胫骨缺如
id: HP:0001841
hpo_term: Preaxial foot polydactyly
chpo_term: 轴前多趾
id: HP:0009756
hpo_term: Popliteal pterygium
chpo_term: 腘窝翼状胬肉
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
Disease (OMIM:300872):
Autism, susceptibility to, X-linked 6
AUTISM, SUSCEPTIBILITY TO, X-LINKED 6

Associated phenotypes (HPO):
id: HP:0002003
hpo_term: Large forehead
chpo_term: 大额头
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (OMIM:613435):
Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia
AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA

Associated phenotypes (HPO):
id: HP:0030007
hpo_term: EMG: positive sharp waves
chpo_term: 肌电图: 正锐波
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0012473
hpo_term: Tongue atrophy
chpo_term: 舌萎缩
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:277350):
Vitamin A metabolic defect
HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0007462
hpo_term: Bitot spots of the conjunctiva
chpo_term: 结膜 毕脱氏斑
id: HP:0004905
hpo_term: Low levels of vitamin A
chpo_term: 维生素A缺乏症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007502
hpo_term: Follicular hyperkeratosis
chpo_term: 克尔里病，贯穿性角化过度病
Disease (OMIM:615722):
Bosch-Boonstra-Schaaf optic atrophy syndrome
BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY 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:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001212
hpo_term: Prominent fingertip pads
chpo_term: 指尖垫突出
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0011261
hpo_term: Darwin tubercle of helix
chpo_term: 耳轮达尔文结节
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0002217
hpo_term: Slow-growing hair
chpo_term: 毛发生长缓慢
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:0000395
hpo_term: Prominent antihelix
chpo_term: 对耳轮突出
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
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:0009909
hpo_term: Uplifted earlobe
chpo_term: 耳垂方向异常
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
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:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
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
Disease (OMIM:613353):
MONONEUROPATHY OF THE MEDIAN NERVE, MILD
Mononeuropathy of the median nerve, mild

Associated phenotypes (HPO):
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0012185
hpo_term: Constrictive median neuropathy
chpo_term: 压迫性正中神经病变
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0009831
hpo_term: Mononeuropathy
chpo_term: 单神经病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:607326):
Smith-Mccort dysplasia 1
SMITH-MCCORT DYSPLASIA 1

Associated phenotypes (HPO):
id: HP:0000882
hpo_term: Hypoplastic scapulae
chpo_term: 肩胛骨发育不全
id: HP:0001552
hpo_term: Barrel-shaped chest
chpo_term: 桶状胸
id: HP:0003311
hpo_term: Hypoplasia of the odontoid process
chpo_term: 齿状突发育不全
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002681
hpo_term: Deformed sella turcica
chpo_term: 蝶鞍畸形
id: HP:0008829
hpo_term: Delayed femoral head ossification
chpo_term: 股骨头骨化延迟
id: HP:0003274
hpo_term: Hypoplastic acetabulae
chpo_term: 髋臼发育低下
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0008835
hpo_term: Multicentric femoral head ossification
chpo_term: 股骨头多中心骨化
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0003521
hpo_term: Disproportionate short-trunk short stature
chpo_term: 不成比例的短躯干性矮小
id: HP:0003467
hpo_term: Atlantoaxial instability
chpo_term: 寰枢椎不稳
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0002692
hpo_term: Hypoplastic facial bones
chpo_term: 面部骨骼发育不全
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0010582
hpo_term: Irregular epiphyses
chpo_term: 不规则骨骺
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008786
hpo_term: Iliac crest serration
chpo_term: 髂嵴锯齿状缘
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000884
hpo_term: Prominent sternum
chpo_term: 胸骨突出
id: HP:0004568
hpo_term: Beaking of vertebral bodies
chpo_term: 椎体鸟喙样改变