TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:617561):
COHEN-GIBSON SYNDROME
Cohen-Gibson syndrome

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
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:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002370
hpo_term: Poor coordination
chpo_term: 协调能力下降
id: HP:0011823
hpo_term: Chin with horizontal crease
chpo_term: 髁唇沟凹陷
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0400004
hpo_term: Long ear
chpo_term: 长耳
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0001816
hpo_term: Thin nail
chpo_term: 薄甲
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
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:0002866
hpo_term: Hypoplastic iliac wing
chpo_term: 髂翼发育不全
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
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
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (OMIM:617207):
ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY
Encephalopathy, progressive, with amyotrophy and optic atrophy

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
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:0001507
hpo_term: Growth abnormality
chpo_term: 生长异常
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
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:0007269
hpo_term: Spinal muscular atrophy
chpo_term: 脊肌萎缩
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:265300):
LYMPHANGIECTASIA, PULMONARY, CONGENITAL
Lymphangiectasia, pulmonary, congenital

Associated phenotypes (HPO):
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001530
hpo_term: Mild postnatal growth retardation
chpo_term: 轻度产后发育迟缓
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0001790
hpo_term: Nonimmune hydrops fetalis
chpo_term: 非免疫性胎儿水肿
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0010310
hpo_term: Chylothorax
chpo_term: 乳糜胸
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012281
hpo_term: Chylous ascites
chpo_term: 乳糜腹水
id: HP:0006521
hpo_term: Pulmonary lymphangiectasia
chpo_term: 肺淋巴管扩张
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0006533
hpo_term: Bronchodysplasia
chpo_term: 支气管软骨发育不全
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:609039):
Narcolepsy 3
NARCOLEPSY 3

Associated phenotypes (HPO):
id: HP:0002494
hpo_term: Abnormal rapid eye movement sleep
chpo_term: 快速眼动期睡眠异常
id: HP:0002330
hpo_term: Paroxysmal drowsiness
chpo_term: 阵发性嗜睡
id: HP:0002519
hpo_term: Hypnagogic hallucinations
chpo_term: 睡前幻觉
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0002524
hpo_term: Cataplexy
chpo_term: 猝倒症
id: HP:0030050
hpo_term: Narcolepsy
chpo_term: 发作性睡病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:612394):
Bone fragility with contractures, arterial rupture, and deafness
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0002680
hpo_term: J-shaped sella turcica
chpo_term: J形蝶鞍
id: HP:0003393
hpo_term: Thenar muscle atrophy
chpo_term: 鱼际肌萎缩
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0003090
hpo_term: Hypoplasia of the capital femoral epiphysis
chpo_term: 股骨近端骨骺发育不全
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0009540
hpo_term: Contracture of the proximal interphalangeal joint of the 2nd finger
chpo_term: 第二指的近节指骨间关节挛缩
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
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:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002132
hpo_term: Porencephalic cyst
chpo_term: 脑穿通性囊肿
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0010557
hpo_term: Overlapping fingers
chpo_term: 指交叠
id: HP:0009471
hpo_term: Contracture of the proximal interphalangeal joint of the 3rd finger
chpo_term: 第三指近端指间关节挛缩
id: HP:0006184
hpo_term: Decreased palmar creases
chpo_term: 掌纹减少
id: HP:0009110
hpo_term: Diaphragmatic eventration
chpo_term: 膈肌缺陷
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0032199
hpo_term: Abnormal prothrombin time
chpo_term: 凝血酶原时间异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0004944
hpo_term: Dilatation of the cerebral artery
chpo_term: 脑动脉扩张
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0000586
hpo_term: Shallow orbits
chpo_term: 浅眼眶
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
Disease (OMIM:202370):
PEROXISOME BIOGENESIS DISORDER 2B
Peroxisome biogenesis disorder 2B

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0003455
hpo_term: Elevated circulating long chain fatty acid concentration
chpo_term: 长链脂肪酸水平升高
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
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:0010696
hpo_term: Polar cataract
chpo_term: 极性白内障
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000846
hpo_term: Adrenal insufficiency
chpo_term: 肾上腺功能不全
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:300215):
Lissencephaly, X-linked, 2
LISSENCEPHALY, X-LINKED, 2

Associated phenotypes (HPO):
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
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:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0011341
hpo_term: Long upper lip
chpo_term: 上唇肥厚
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0009921
hpo_term: Duane anomaly
chpo_term: Duane 异常
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0012736
hpo_term: Profound global developmental delay
chpo_term: 严重的全脑发育迟缓
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
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:600790):
CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL
Chorioretinal atrophy, progressive bifocal

Associated phenotypes (HPO):
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0001135
hpo_term: Chorioretinal dystrophy
chpo_term: 脉络膜视网膜营养不良
id: HP:0001135
hpo_term: Chorioretinal dystrophy
chpo_term: 脉络膜视网膜营养不良
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
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:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
Disease (OMIM:620326):
CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE
Congenital myopathy 21 with early respiratory failure

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:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
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:0009113
hpo_term: Diaphragmatic weakness
chpo_term: 膈肌无力
id: HP:0033364
hpo_term: Lipoid pneumonia
chpo_term: 类脂性肺炎
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:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0002877
hpo_term: Nocturnal hypoventilation
chpo_term: 夜间低通气
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
Disease (OMIM:607941):
Atrial septal defect 2
ATRIAL SEPTAL DEFECT 2

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0006695
hpo_term: Atrioventricular canal defect
chpo_term: 房室管缺损
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:219750):
CYSTINOSIS, ADULT NONNEPHROPATHIC
Cystinosis, adult nonnephropathic

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0032639
hpo_term: Elevated leukocyte cystine
chpo_term: 白细胞胱氨酸升高
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000531
hpo_term: Corneal crystals
chpo_term: 角膜结晶
id: HP:0000479
hpo_term: Abnormal retinal morphology
chpo_term: 视网膜形态异常
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
Disease (OMIM:614083):
FANCONI ANEMIA, COMPLEMENTATION GROUP L
Fanconi anemia, complementation group L

Associated phenotypes (HPO):
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0040012
hpo_term: Chromosome breakage
chpo_term: 染色体断裂
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000437
hpo_term: Depressed nasal tip
chpo_term: 鼻尖凹陷
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
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:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002032
hpo_term: Esophageal atresia
chpo_term: 食管闭锁
id: HP:0003221
hpo_term: Chromosomal breakage induced by crosslinking agents
chpo_term: 交联剂诱发的染色体断裂
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:0000151
hpo_term: Aplasia of the uterus
chpo_term: 子宫发育不全
id: HP:0004590
hpo_term: Hypoplastic sacrum
chpo_term: 骶骨发育不全
id: HP:0009892
hpo_term: Anotia
chpo_term: 无耳畸形
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009777
hpo_term: Absent thumb
chpo_term: 拇指缺如
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0003974
hpo_term: Absent radius
chpo_term: 桡骨缺如
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
Disease (OMIM:604290):
ACERULOPLASMINEMIA

Associated phenotypes (HPO):
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0002168
hpo_term: Scanning speech
chpo_term: 断续言语
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002396
hpo_term: Cogwheel rigidity
chpo_term: 齿轮样强直
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0025498
hpo_term: Aceruloplasminemia
chpo_term: 铜蓝蛋白缺乏症
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0040303
hpo_term: Decreased serum iron
chpo_term: 血清铁下降
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
Disease (OMIM:614097):
ACATALASEMIA
Acatalasemia

Associated phenotypes (HPO):
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012517
hpo_term: Reduced catalase level
chpo_term: 过氧化氢酶活性降低
Disease (OMIM:616858):
COWDEN SYNDROME 7
Cowden syndrome 7

Associated phenotypes (HPO):
id: HP:0002895
hpo_term: Papillary thyroid carcinoma
chpo_term: 甲状腺乳头状癌
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0012740
hpo_term: Papilloma
chpo_term: 乳头状瘤
id: HP:0200008
hpo_term: Intestinal polyposis
chpo_term: 肠息肉病
id: HP:0012844
hpo_term: Trichilemmoma
chpo_term: 毛根鞘瘤
id: HP:0030075
hpo_term: Ductal carcinoma in situ
chpo_term: 导管原位癌
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000872
hpo_term: Hashimoto thyroiditis
chpo_term: 桥本甲状腺炎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
Disease (OMIM:620332):
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 18
Oocyte/zygote/embryo maturation arrest 18

Associated phenotypes (HPO):
id: HP:0008222
hpo_term: Female infertility
chpo_term: 女性不孕症
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
Disease (OMIM:616680):
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
Spastic paraplegia 75, autosomal recessive

Associated phenotypes (HPO):
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0002464
hpo_term: Spastic dysarthria
chpo_term: 痉挛性构音障碍
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0007371
hpo_term: Corpus callosum atrophy
chpo_term: 胼胝体萎缩
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0006886
hpo_term: Impaired distal vibration sensation
chpo_term: 远端振动觉障碍
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0002522
hpo_term: Areflexia of lower limbs
chpo_term: 下肢反射消失
id: HP:0002600
hpo_term: Hyporeflexia of lower limbs
chpo_term: 下肢反射减弱
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
Disease (OMIM:618875):
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
Seizures, early-onset, with neurodegeneration and brain calcification

Associated phenotypes (HPO):
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0006970
hpo_term: Periventricular leukomalacia
chpo_term: 脑室周围白质软化
id: HP:0012389
hpo_term: Appendicular hypotonia
chpo_term: 四肢肌张力低下