TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:616395):
Trichothiodystrophy 3, photosensitive
TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002245
hpo_term: Meckel diverticulum
chpo_term: Meckel憩室
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:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0045055
hpo_term: Tiger tail banding
chpo_term: 老虎尾巴带
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0033134
hpo_term: Abdominal adhesions
chpo_term: 腹腔粘连
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0012472
hpo_term: Eclabion
chpo_term: 唇外翻
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0009886
hpo_term: Trichorrhexis nodosa
chpo_term: 结节性脆发症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
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:0003261
hpo_term: Increased circulating IgA level
chpo_term: 循环IgA升高
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0007431
hpo_term: Congenital ichthyosiform erythroderma
chpo_term: 先天性鱼鳞病样红皮病
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
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: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:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:617935):
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4
Epilepsy, familial focal, with variable foci 4

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0006889
hpo_term: Intellectual disability, borderline
chpo_term: 边缘状态智力障碍
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000274
hpo_term: Small face
chpo_term: 小脸
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
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:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0011171
hpo_term: Simple febrile seizure
chpo_term: 单纯型热性惊厥
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0020221
hpo_term: Clonic seizure
chpo_term: 阵挛性癫痫发作
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:620141):
Developmental delay, language impairment, and ocular abnormalities
DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES

Associated phenotypes (HPO):
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002144
hpo_term: Tethered cord
chpo_term: 脊髓栓系
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0025161
hpo_term: Frequent temper tantrums
chpo_term: 频繁发脾气
id: HP:0500041
hpo_term: Myopic astigmatism
chpo_term: 近视散光
id: HP:0007380
hpo_term: Facial telangiectasia
chpo_term: 面部毛细血管扩张
id: HP:0009185
hpo_term: Contracture of the proximal interphalangeal joint of the 5th finger
chpo_term: 第五指近节指间关节挛缩
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0020046
hpo_term: Accommodative esotropia
chpo_term: 调节性内斜视
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:204200):
CEROID LIPOFUSCINOSIS, NEURONAL, 3
Ceroid lipofuscinosis, neuronal, 3

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0005157
hpo_term: Concentric hypertrophic cardiomyopathy
chpo_term: 向心性肥厚型心肌病
id: HP:0002361
hpo_term: Psychomotor deterioration
chpo_term: 精神运动性恶化
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001922
hpo_term: Vacuolated lymphocytes
chpo_term: 空泡淋巴细胞
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0003208
hpo_term: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
chpo_term: 自体荧光脂色素存储物质的细胞内堆积指纹谱
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003205
hpo_term: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
chpo_term: 自体荧光脂色素存储物质的胞内曲线堆积
id: HP:0000550
hpo_term: Undetectable electroretinogram
chpo_term: 视网膜电流图熄灭型
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0003463
hpo_term: Increased extraneuronal autofluorescent lipopigment
chpo_term: 神经元外自体荧光脂褐素增加
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002074
hpo_term: Increased neuronal autofluorescent lipopigment
chpo_term: 神经元自体荧光脂褐素增加
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
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:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:217095):
Conotruncal heart malformations
CONOTRUNCAL HEART MALFORMATIONS

Associated phenotypes (HPO):
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0001660
hpo_term: Truncus arteriosus
chpo_term: 动脉干
id: HP:0001674
hpo_term: Complete atrioventricular canal defect
chpo_term: 完全性房室通道缺损
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001669
hpo_term: Transposition of the great arteries
chpo_term: 大动脉转位
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:271310):
Spinocerebellar degeneration and corneal dystrophy
SPINOCEREBELLAR DEGENERATION AND CORNEAL DYSTROPHY

Associated phenotypes (HPO):
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0012040
hpo_term: Corneal stromal edema
chpo_term: 角膜基质水肿
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0001141
hpo_term: Severely reduced visual acuity
chpo_term: 视力严重下降
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002503
hpo_term: Spinocerebellar tract degeneration
chpo_term: 脊髓小脑束变性
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:150400):
TOOTH AGENESIS, SELECTIVE, 4
Tooth agenesis, selective, 4

Associated phenotypes (HPO):
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0010764
hpo_term: Short eyelashes
chpo_term: 短睫
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0010765
hpo_term: Palmar hyperkeratosis
chpo_term: 掌部角化过度
id: HP:0008391
hpo_term: Dystrophic fingernails
chpo_term: 指甲营养不良
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0006481
hpo_term: Abnormality of primary teeth
chpo_term: 乳牙异常
id: HP:0006342
hpo_term: Peg-shaped maxillary lateral incisors
chpo_term: 钉形上颌侧切牙
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
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:0007410
hpo_term: Palmoplantar hyperhidrosis
chpo_term: 掌跖多汗症
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0001810
hpo_term: Dystrophic toenail
chpo_term: 趾甲营养不良
id: HP:0006349
hpo_term: Agenesis of permanent teeth
chpo_term: 恒牙发育不全
Disease (OMIM:222748):
DIHYDROPYRIMIDINASE DEFICIENCY
Dihydropyrimidinuria

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0003654
hpo_term: Reduced dihydropyrimidine dehydrogenase level
chpo_term: 双氢嘧啶脱氢酶活性降低
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:6000331
id: HP:6000211
id: HP:6000118
id: HP:0002062
hpo_term: Morphological abnormality of the pyramidal tract
chpo_term: 锥体束的形态异常
id: HP:4000095
id: HP:0012544
hpo_term: Elevated aldolase level
chpo_term: 醛缩酶水平升高
id: HP:0012127
hpo_term: Uraciluria
chpo_term: 尿嘧啶尿症
id: HP:6000119
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:6000083
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0007308
hpo_term: Extrapyramidal dyskinesia
chpo_term: 锥体外系运动障碍
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:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0033139
hpo_term: Elevated circulating uracil concentration
chpo_term: 循环尿嘧啶浓度升高
id: HP:0034593
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:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0003710
hpo_term: Exercise-induced muscle cramps
chpo_term: 运动引起的肌肉痉挛
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
Disease (OMIM:618637):
OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1
Oculopharyngeal myopathy with leukoencephalopathy 1

Associated phenotypes (HPO):
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0002579
hpo_term: Gastrointestinal dysmotility
chpo_term: 胃肠动力障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
Disease (OMIM:238710):
Hyperlysinemia due to defect in lysine transport into mitochondria
HYPERLYSINEMIA DUE TO DEFECT IN LYSINE TRANSPORT INTO MITOCHONDRIA

Associated phenotypes (HPO):
id: HP:0008265
hpo_term: Mitochondrial lysine transport defect
chpo_term: 线粒体赖氨酸转运缺陷
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002161
hpo_term: Hyperlysinemia
chpo_term: 高赖氨酸血症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:613762):
46,xy sex reversal 6
46,XY SEX REVERSAL 6

Associated phenotypes (HPO):
id: HP:0100621
hpo_term: Dysgerminoma
chpo_term: 无性细胞瘤
id: HP:0012245
hpo_term: Sex reversal
chpo_term: 性反转
id: HP:0000133
hpo_term: Gonadal dysgenesis
chpo_term: 性腺发育不全
id: HP:0000150
hpo_term: Gonadoblastoma
chpo_term: 性腺母细胞瘤
id: HP:0000041
hpo_term: Chordee
chpo_term: 阴茎下曲
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0002215
hpo_term: Sparse axillary hair
chpo_term: 腋毛稀疏
Disease (OMIM:614019):
LISSENCEPHALY 4
Lissencephaly 4

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0030048
hpo_term: Colpocephaly
chpo_term: 枕角扩大畸形
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:267200):
RENAL TUBULAR ACIDOSIS III
Renal tubular acidosis III

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
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:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0003768
hpo_term: Periodic paralysis
chpo_term: 周期性麻痹
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0004910
hpo_term: Bicarbonate-wasting renal tubular acidosis
chpo_term: 碳酸氢盐流失性肾小管酸中毒
Disease (OMIM:618145):
DEAFNESS, AUTOSOMAL RECESSIVE 111
Deafness, autosomal recessive 111

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
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: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
Disease (OMIM:617276):
Developmental and epileptic encephalopathy 48
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48

Associated phenotypes (HPO):
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
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:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
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:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
Disease (OMIM:263700):
Porphyria, congenital erythropoietic
PORPHYRIA, CONGENITAL ERYTHROPOIETIC

Associated phenotypes (HPO):
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0011457
hpo_term: Loss of eyelashes
chpo_term: 睫毛消退
id: HP:6000514
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0033009
hpo_term: Increased fecal coproporphyrin 1
chpo_term: 粪卟啉1增多
id: HP:0030756
hpo_term: Erythrodontia
chpo_term: 红牙病
id: HP:0100324
hpo_term: Scleroderma
chpo_term: 硬皮病
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0032001
hpo_term: Pink urine
chpo_term: 粉红色尿液
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0000559
hpo_term: Corneal scarring
chpo_term: 角膜瘢痕
id: HP:0002953
hpo_term: Vertebral compression fracture
chpo_term: 椎体压缩性骨折
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0040318
hpo_term: Red urine
chpo_term: 红色尿液
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0034905
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000987
hpo_term: Atypical scarring of skin
chpo_term: 非典型皮肤瘢痕
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:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
Disease (OMIM:601414):
Retinitis pigmentosa 18
RETINITIS PIGMENTOSA 18

Associated phenotypes (HPO):
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0008043
hpo_term: Retinal arteriolar constriction
chpo_term: 视网膜小动脉收缩
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000575
hpo_term: Scotoma
chpo_term: 盲点
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0007987
hpo_term: Progressive visual field defects
chpo_term: 进行性视野缺失
Disease (OMIM:609048):
Melanoma, cutaneous malignant, susceptibility to, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3

Associated phenotypes (HPO):
id: HP:0012056
hpo_term: Cutaneous melanoma
chpo_term: 皮肤黑色素瘤
id: HP:0001074
hpo_term: Atypical nevi in non-sun exposed areas
chpo_term: 非曝露部位不典型痣
id: HP:0001062
hpo_term: Atypical nevus
chpo_term: 非典型痣（&gt;5毫米且有不规则的边缘及色素沉着）
id: HP:0001054
hpo_term: Numerous nevi
chpo_term: 多发性色素痣
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616140):
LEUKODYSTROPHY, HYPOMYELINATING, 9
Leukodystrophy, hypomyelinating, 9

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
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:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007024
hpo_term: Pseudobulbar paralysis
chpo_term: 假性球麻痹
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
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:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001583
hpo_term: Rotary nystagmus
chpo_term: 旋转眼球震颤
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0012043
hpo_term: Pendular nystagmus
chpo_term: 钟摆样眼球震颤
id: HP:0007179
hpo_term: Absent smooth pursuit
chpo_term: 平滑追视缺失
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传