TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:617507):
PEHO-LIKE SYNDROME
Peho-Like syndrome

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
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:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0007105
hpo_term: Infantile encephalopathy
chpo_term: 婴儿脑病
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
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:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0012736
hpo_term: Profound global developmental delay
chpo_term: 严重的全脑发育迟缓
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0025405
hpo_term: Visual fixation instability
chpo_term: 固视不稳定
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:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:265400):
PULMONARY HYPERTENSION, PRIMARY, 5
Pulmonary hypertension, primary, autosomal recessive

Associated phenotypes (HPO):
id: HP:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001708
hpo_term: Right ventricular failure
chpo_term: 右心衰竭
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001667
hpo_term: Right ventricular hypertrophy
chpo_term: 右心室肥厚
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:212850):
CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS
Cerebellar ataxia and neurosensory deafness

Associated phenotypes (HPO):
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
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
Disease (OMIM:612319):
Spastic paraplegia 35, autosomal recessive
SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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: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:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002180
hpo_term: Neurodegeneration
chpo_term: 神经变性
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
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:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
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:0006978
hpo_term: Dysmyelinating leukodystrophy
chpo_term: 髓鞘障碍性脑白质营养不良
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0000012
hpo_term: Urinary urgency
chpo_term: 尿急
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
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:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
Disease (OMIM:615476):
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18
Developmental and epileptic encephalopathy 18

Associated phenotypes (HPO):
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012736
hpo_term: Profound global developmental delay
chpo_term: 严重的全脑发育迟缓
id: HP:0007270
hpo_term: Atypical absence seizure
chpo_term: 非典型失神发作
id: HP:0007074
hpo_term: Thick corpus callosum
chpo_term: 胼胝体增厚
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
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:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
Disease (OMIM:261100):
Megaloblastic anemia 1
IMERSLUND-GRASBECK SYNDROME 1

Associated phenotypes (HPO):
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0100502
hpo_term: Vitamin B12 deficiency
chpo_term: 维生素B12缺乏症
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0200118
hpo_term: Malabsorption of Vitamin B12
chpo_term: 维生素B12吸收不良
id: HP:0040087
hpo_term: Abnormal blood folate concentration
chpo_term: 血液叶酸异常
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0002907
hpo_term: Microscopic hematuria
chpo_term: 镜下血尿症
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0001889
hpo_term: Megaloblastic anemia
chpo_term: 巨幼细胞性贫血
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
Disease (OMIM:618152):
Spermatogenic failure 33
SPERMATOGENIC FAILURE 33

Associated phenotypes (HPO):
id: HP:0033393
hpo_term: Irregularly shaped sperm tail
chpo_term: 精子尾部畸形（不规则形状的精子尾）
id: HP:0032560
hpo_term: Coiled sperm flagella
chpo_term: 精子鞭毛卷曲
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012207
hpo_term: Reduced sperm motility
chpo_term: 精子活力降低
id: HP:0032558
hpo_term: Absent sperm flagella
chpo_term: 精子鞭毛缺失
id: HP:0032559
hpo_term: Short sperm flagella
chpo_term: 精子鞭毛短
Disease (OMIM:619264):
Neurodevelopmental disorder with dysmorphic facies and variable seizures
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
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:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0100033
hpo_term: Tics
chpo_term: 抽动症
id: HP:0031987
hpo_term: Diminished ability to concentrate
chpo_term: 注意力下降
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:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0025116
hpo_term: Fetal distress
chpo_term: 胎儿窘迫
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
Disease (OMIM:611638):
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5
Microphthalmia, isolated, with coloboma 5

Associated phenotypes (HPO):
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0007633
hpo_term: Bilateral microphthalmos
chpo_term: 双侧小眼畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
Disease (OMIM:264050):
Prenatal bowing
PRENATAL BOWING

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
Disease (OMIM:616631):
POROKERATOSIS 9, MULTIPLE TYPES
Porokeratosis 9, multiple types

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0200044
hpo_term: Porokeratosis
chpo_term: 汗孔角化病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620383):
Oocyte/zygote/embryo maturation arrest 20
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 20

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:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:615338):
Developmental and epileptic encephalopathy 16
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16

Associated phenotypes (HPO):
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
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:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0033258
hpo_term: Sudden unexpected death in epilepsy
chpo_term: 癫痫猝死症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0020221
hpo_term: Clonic seizure
chpo_term: 阵挛性癫痫发作
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:613985):
BETA-THALASSEMIA

Associated phenotypes (HPO):
id: HP:0011906
hpo_term: Reduced beta/alpha synthesis ratio
chpo_term: β/α合成比减低
id: HP:0004840
hpo_term: Hypochromic microcytic anemia
chpo_term: 低色素性小红细胞性贫血
Disease (OMIM:616625):
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W
Charcot-Marie-Tooth disease, axonal, type 2W

Associated phenotypes (HPO):
id: HP:0007083
hpo_term: Hyperactive patellar reflex
chpo_term: 膝腱反射亢进
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
Disease (OMIM:618608):
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES

Associated phenotypes (HPO):
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000692
hpo_term: Tooth malposition
chpo_term: 牙列不齐
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0011228
hpo_term: Horizontal eyebrow
chpo_term: 横眉
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0009237
hpo_term: Short 5th finger
chpo_term: 第五指发育不全或不发育
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
Disease (OMIM:610532):
Leukodystrophy, hypomyelinating, 5
LEUKODYSTROPHY, HYPOMYELINATING, 5

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0004466
hpo_term: Prolonged brainstem auditory evoked potentials
chpo_term: 脑干听觉诱发电位延长
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0100291
hpo_term: Abnormality of central somatosensory evoked potentials
chpo_term: 异常的中枢体感诱发电位
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
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:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
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:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0030147
hpo_term: Truncal titubation
chpo_term: 躯干摇晃/躯干蹒跚
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:0003383
hpo_term: Onion bulb formation
chpo_term: 洋葱球形成
id: HP:0012762
hpo_term: Cerebral white matter atrophy
chpo_term: 脑白质萎缩
id: HP:0007210
hpo_term: Lower limb amyotrophy
chpo_term: 下肢肌萎缩
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
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:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
Disease (OMIM:600721):
D-2-Hydroxyglutaric aciduria 1
D-2-HYDROXYGLUTARIC ACIDURIA 1

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003150
hpo_term: Glutaric aciduria
chpo_term: 戊二酸尿症
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0002416
hpo_term: Subependymal cysts
chpo_term: 室管膜下囊肿
id: HP:0007105
hpo_term: Infantile encephalopathy
chpo_term: 婴儿脑病
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0005348
hpo_term: Inspiratory stridor
chpo_term: 吸气性喘鸣
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:6000246
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012321
hpo_term: D-2-hydroxyglutaric aciduria
chpo_term: D-2-羟基戊二酸尿症
id: HP:0007052
hpo_term: Multifocal cerebral white matter abnormalities
chpo_term: 多灶性脑白质异常
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (DECIPHER:8):
Smith-Magenis syndrome

Associated phenotypes (HPO):
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残
Disease (OMIM:201810):
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY

Associated phenotypes (HPO):
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0008707
hpo_term: Absent scrotum
chpo_term: 阴囊缺如
id: HP:0000051
hpo_term: Perineal hypospadias
chpo_term: 会阴型尿道下裂
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0033809
hpo_term: Increased circulating 17 hydroxypregnenolone concentration
chpo_term: 血液17α-羟基孕烯醇酮浓度增加
id: HP:0031078
hpo_term: Impaired cortisol response to corticotropin releasing hormone stimulation test
chpo_term: 皮质醇对促肾上腺皮质激素释放激素刺激试验的反应受损
id: HP:0031213
hpo_term: Elevated circulating 17-hydroxyprogesterone
chpo_term: 循环17-羟孕酮升高
id: HP:0034589
id: HP:0012411
hpo_term: Premature pubarche
chpo_term: 阴毛早现
id: HP:0012853
hpo_term: Scrotal hypospadias
chpo_term: 阴囊型尿道下裂
id: HP:0000808
hpo_term: Penoscrotal hypospadias
chpo_term: 阴茎阴囊型尿道下裂
id: HP:0008221
hpo_term: Adrenal hyperplasia
chpo_term: 肾上腺增生
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000846
hpo_term: Adrenal insufficiency
chpo_term: 肾上腺功能不全
id: HP:0030260
hpo_term: Microphallus
chpo_term: 阴茎过小
id: HP:0000037
hpo_term: Male pseudohermaphroditism
chpo_term: 男性假两性畸形
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:162300):
Multiple endocrine neoplasia, type IIB
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB

Associated phenotypes (HPO):
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0005994
hpo_term: Nodular goiter
chpo_term: 结节性甲状腺肿
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0003528
hpo_term: Elevated calcitonin
chpo_term: 降钙素升高
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0003005
hpo_term: Ganglioneuroma
chpo_term: 神经节瘤
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0031284
hpo_term: Flushing
chpo_term: 红晕
id: HP:0006461
hpo_term: Proximal femoral epiphysiolysis
chpo_term: 股骨近端骨骺生理溶解
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0003639
hpo_term: Elevated urinary epinephrine
chpo_term: 尿肾上腺素增高
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0002865
hpo_term: Medullary thyroid carcinoma
chpo_term: 甲状腺髓样癌
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0008208
hpo_term: Parathyroid hyperplasia
chpo_term: 甲状旁腺增生
id: HP:0002666
hpo_term: Pheochromocytoma
chpo_term: 嗜铬细胞瘤