TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:617698):
3-methylglutaconic aciduria, type IX
3-METHYLGLUTACONIC ACIDURIA, TYPE IX

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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: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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
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:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0003344
hpo_term: 3-Methylglutaric aciduria
chpo_term: 3-甲基戊二酸尿症
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:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0032988
hpo_term: Persistent head lag
chpo_term: 持续性头滞后
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
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:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症
Disease (OMIM:300661):
Phosphoribosylpyrophosphate synthetase superactivity
PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0003149
hpo_term: Hyperuricosuria
chpo_term: 高尿酸尿症
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:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000791
hpo_term: Uric acid nephrolithiasis
chpo_term: 肾尿酸结石
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003240
hpo_term: Increased phosphoribosylpyrophosphate synthetase level
chpo_term: 磷酸核糖焦磷酸合成酶增高
id: HP:0034368
hpo_term: Urolithiasis
chpo_term: 尿石症
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0001997
hpo_term: Gout
chpo_term: 痛风
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:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
Disease (OMIM:616592):
KOSAKI OVERGROWTH SYNDROME
Kosaki overgrowth syndrome

Associated phenotypes (HPO):
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0008765
hpo_term: Auditory hallucinations
chpo_term: 幻听
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0002944
hpo_term: Thoracolumbar scoliosis
chpo_term: 胸腰脊柱侧弯
id: HP:0020135
hpo_term: Myofibromatosis
chpo_term: 肌纤维瘤病
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0001114
hpo_term: Xanthelasma
chpo_term: 睑黄瘤
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
Disease (OMIM:617854):
MENTAL RETARDATION, AUTOSOMAL DOMINANT 56
Intellectual developmental disorder, autosomal dominant 56

Associated phenotypes (HPO):
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002385
hpo_term: Paraparesis
chpo_term: 下肢轻瘫
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
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:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0031843
hpo_term: Bradyphrenia
chpo_term: 智力迟钝
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0007301
hpo_term: Oromotor apraxia
chpo_term: 口部失用
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0006879
hpo_term: Pontocerebellar atrophy
chpo_term: 脑桥小脑萎缩
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002375
hpo_term: Hypokinesia
chpo_term: 运动减少
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
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:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
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:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:619879):
Meckel syndrome 14
MECKEL SYNDROME 14

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0001750
hpo_term: Single ventricle
chpo_term: 单心室
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0002085
hpo_term: Occipital encephalocele
chpo_term: 枕部脑膨出
id: HP:0005474
hpo_term: Decreased calvarial ossification
chpo_term: 颅骨骨化减少
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0000151
hpo_term: Aplasia of the uterus
chpo_term: 子宫发育不全
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0034199
hpo_term: Late first trimester onset
chpo_term: 孕早期晚期起病
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0010880
hpo_term: Increased nuchal translucency
chpo_term: 颈部透明层厚度增加
id: HP:0034198
hpo_term: Second trimester onset
chpo_term: 孕中期起病
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:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0006543
hpo_term: Cardiorespiratory arrest
chpo_term: 心跳呼吸骤停
id: HP:0001538
hpo_term: Protuberant abdomen
chpo_term: 腹部隆凸
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
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:314600):
WILDERVANCK SYNDROME
Wildervanck syndrome

Associated phenotypes (HPO):
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002949
hpo_term: Fused cervical vertebrae
chpo_term: 颈椎融合
id: HP:0000538
hpo_term: Pseudopapilledema
chpo_term: 假性视乳头水肿
id: HP:0000356
hpo_term: Abnormality of the outer ear
chpo_term: 外耳异常
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0006897
hpo_term: Abducens palsy
chpo_term: 外展神经麻痹
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
Disease (OMIM:614385):
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7
Colorectal cancer, hereditary nonpolyposis, type 7

Associated phenotypes (HPO):
id: HP:0006716
hpo_term: Hereditary nonpolyposis colorectal carcinoma
chpo_term: 遗传性非息肉性结直肠癌
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615925):
GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL
Growth hormone deficiency, isolated partial

Associated phenotypes (HPO):
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0012506
hpo_term: Small pituitary gland
chpo_term: 垂体缩小
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:600496):
Maturity-onset diabetes of the young, type III
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3

Associated phenotypes (HPO):
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0004904
hpo_term: Maturity-onset diabetes of the young
chpo_term: 青少年发病的成人型糖尿病
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:310300):
EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED
Emery-Dreifuss muscular dystrophy 1, X-linked

Associated phenotypes (HPO):
id: HP:0011807
hpo_term: Type 1 muscle fiber atrophy
chpo_term: 1型肌纤维萎缩
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0004631
hpo_term: Decreased cervical spine flexion due to contractures of posterior cervical muscles
chpo_term: 颈后肌群挛缩致颈椎屈度下降
id: HP:0000464
hpo_term: Abnormality of the neck
chpo_term: 颈部异常
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0011705
hpo_term: First degree atrioventricular block
chpo_term: 一度房室传导阻滞
id: HP:0001692
hpo_term: Atrial arrhythmia
chpo_term: 房性心律不齐
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0033122
hpo_term: Absent P wave
chpo_term: P波消失
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
Disease (OMIM:127500):
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1
Dyschromatosis universalis hereditaria

Associated phenotypes (HPO):
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0007441
hpo_term: Hyperpigmented/hypopigmented macules
chpo_term: 色素沉着/色素减退斑（色素异常斑）
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:203340):
ALBINISM-MICROCEPHALY-DIGITAL ANOMALIES SYNDROME
Microcephaly - albinism - digital anomalies

Associated phenotypes (HPO):
id: HP:0001022
hpo_term: Albinism
chpo_term: 白化病
Disease (OMIM:619689):
Spermatogenic failure 63
SPERMATOGENIC FAILURE 63

Associated phenotypes (HPO):
id: HP:0034011
hpo_term: Reduced progressive sperm motility
chpo_term: 精子前向运动减少
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
Disease (OMIM:619851):
LEUKODYSTROPHY, HYPOMYELINATING, 24
Leukodystrophy, hypomyelinating, 24

Associated phenotypes (HPO):
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0025352
hpo_term: Typically de novo
chpo_term: 典型的新生突变
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:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0012704
hpo_term: Widened subarachnoid space
chpo_term: 蛛网膜下腔增宽
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:106280):
Ankyloglossia with or without tooth anomalies
ANKYLOGLOSSIA WITH OR WITHOUT TOOTH ANOMALIES

Associated phenotypes (HPO):
id: HP:0010296
hpo_term: Ankyloglossia
chpo_term: 舌系带短缩
id: HP:0011069
hpo_term: Supernumerary tooth
chpo_term: 多生牙
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:134540):
FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF
Factor IX and factor XI, combined deficiency of

Associated phenotypes (HPO):
id: HP:0001929
hpo_term: Reduced factor XI activity
chpo_term: 凝血因子XI活性减低
id: HP:0011858
hpo_term: Reduced factor IX activity
chpo_term: 凝血因子IX活性减低
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:215250):
CHONDROITIN-6-SULFATURIA, DEFECTIVE CELLULAR IMMUNITY, NEPHROTIC SYNDROME
Chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome

Associated phenotypes (HPO):
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0006462
hpo_term: Generalized bone demineralization
chpo_term: 广泛性骨矿质密度降低
id: HP:0008155
hpo_term: Mucopolysacchariduria
chpo_term: 粘多糖尿症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001648
hpo_term: Cor pulmonale
chpo_term: 肺源性心脏病
id: HP:0006577
hpo_term: Macronodular cirrhosis
chpo_term: 大结节性肝硬化
id: HP:0002843
hpo_term: Abnormal T cell morphology
chpo_term: T细胞形态异常
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (OMIM:619845):
RETINITIS PIGMENTOSA 93
Retinitis pigmentosa 93

Associated phenotypes (HPO):
id: HP:0000550
hpo_term: Undetectable electroretinogram
chpo_term: 视网膜电流图熄灭型
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
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:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0032027
hpo_term: Retinal dots
chpo_term: 点状视网膜病变
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
Disease (OMIM:194090):
Wilms tumor 3
WILMS TUMOR 3

Associated phenotypes (HPO):
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:211750):
C syndrome
C 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:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0009100
hpo_term: Thick anterior alveolar ridges
chpo_term: 前牙槽嵴厚
id: HP:0009465
hpo_term: Ulnar deviation of finger
chpo_term: 手指尺侧偏斜
id: HP:0009466
hpo_term: Radial deviation of finger
chpo_term: 手指桡侧偏斜
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000191
hpo_term: Accessory oral frenulum
chpo_term: 额外口腔系带
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0000803
hpo_term: Renal cortical cysts
chpo_term: 肾皮质囊肿
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0006643
hpo_term: Fused sternal ossification centers
chpo_term: 胸骨骨化中心融合
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
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:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传