TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:276700):
Tyrosinemia, type I
TYROSINEMIA, TYPE I

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0003235
hpo_term: Hypermethioninemia
chpo_term: 高甲硫胺酸血症
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0003231
hpo_term: Hypertyrosinemia
chpo_term: 高酪氨酸血症
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0006949
hpo_term: Episodic peripheral neuropathy
chpo_term: 发作性周围神经病变
id: HP:6000598
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:6000775
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0006254
hpo_term: Elevated alpha-fetoprotein
chpo_term: α-甲胎蛋白升高
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0006554
hpo_term: Acute hepatic failure
chpo_term: 急性肝功能衰竭
id: HP:0004912
hpo_term: Hypophosphatemic rickets
chpo_term: 低磷性佝偻病
id: HP:0003768
hpo_term: Periodic paralysis
chpo_term: 周期性麻痹
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
id: HP:0004510
hpo_term: Pancreatic islet-cell hyperplasia
chpo_term: 胰岛细胞增生
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0003163
hpo_term: Elevated urinary delta-aminolevulinic acid
chpo_term: 尿δ-氨基乙酰丙酸水平升高
id: HP:0000096
hpo_term: Glomerular sclerosis
chpo_term: 肾小球硬化
id: HP:0002590
hpo_term: Paralytic ileus
chpo_term: 麻痹性肠梗阻
id: HP:6000827
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002249
hpo_term: Melena
chpo_term: 黑便
id: HP:0001994
hpo_term: Renal Fanconi syndrome
chpo_term: 肾范可尼综合征
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
Disease (OMIM:619130):
THROMBOCYTOPENIA 7
Thrombocytopenia, autosomal dominant, 7

Associated phenotypes (HPO):
id: HP:0011891
hpo_term: Post-partum hemorrhage
chpo_term: 产后出血
id: HP:0011870
hpo_term: Impaired arachidonic acid-induced platelet aggregation
chpo_term: 花生四烯酸诱导的血小板聚集受损
id: HP:0011871
hpo_term: Impaired ristocetin-induced platelet aggregation
chpo_term: 瑞斯托菌素诱导的血小板聚集受损
id: HP:0008320
hpo_term: Impaired collagen-induced platelet aggregation
chpo_term: 胶原诱导的血小板凝集障碍
id: HP:0033536
hpo_term: Reduced platelet alpha granules
chpo_term: 血小板α颗粒减少
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0033535
hpo_term: Reduced platelet dense granules
chpo_term: 血小板致密颗粒减少
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0004866
hpo_term: Impaired ADP-induced platelet aggregation
chpo_term: ADP诱导的血小板聚集障碍
Disease (OMIM:618548):
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4
Epileptic encephalopathy, early infantile, 77

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0010544
hpo_term: Vertical nystagmus
chpo_term: 垂直眼球震颤
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0009023
hpo_term: Abdominal wall muscle weakness
chpo_term: 腹壁肌无力
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001869
hpo_term: Deep plantar creases
chpo_term: 跖部深褶
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0000977
hpo_term: Soft skin
chpo_term: 皮肤柔软
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0001540
hpo_term: Diastasis recti
chpo_term: 腹直肌分离
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0009909
hpo_term: Uplifted earlobe
chpo_term: 耳垂方向异常
id: HP:0030822
hpo_term: Hooded upper eyelid
chpo_term: 上眼睑悬垂
id: HP:0000803
hpo_term: Renal cortical cysts
chpo_term: 肾皮质囊肿
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0031165
hpo_term: Multifocal seizures
chpo_term: 多灶性癫痫发作
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
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:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000522
hpo_term: Alacrima
chpo_term: 无泪
Disease (OMIM:272200):
Multiple sulfatase deficiency
MULTIPLE SULFATASE DEFICIENCY

Associated phenotypes (HPO):
id: HP:0002003
hpo_term: Large forehead
chpo_term: 大额头
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
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:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0008155
hpo_term: Mucopolysacchariduria
chpo_term: 粘多糖尿症
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0008479
hpo_term: Hypoplastic vertebral bodies
chpo_term: 椎体发育不良
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0007305
hpo_term: CNS demyelination
chpo_term: 中枢神经系统脱髓鞘
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0007307
hpo_term: Rapid neurologic deterioration
chpo_term: 快速神经功能恶化
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0100539
hpo_term: Periorbital edema
chpo_term: 眶周水肿
id: HP:0000943
hpo_term: Dysostosis multiplex
chpo_term: 多发性骨发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:220220):
DANDY-WALKER MALFORMATION WITH POSTAXIAL POLYDACTYLY
Dandy-Walker malformation with postaxial polydactyly

Associated phenotypes (HPO):
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000931
hpo_term: Thinning and bulging of the posterior fossa bones
chpo_term: 后颅窝骨骼变薄并突起
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0000933
hpo_term: Posterior fossa cyst at the fourth ventricle
chpo_term: 后颅窝第四脑室囊肿
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000930
hpo_term: Elevated imprint of the transverse sinuses
chpo_term: 横窦压迹抬高
id: HP:0002951
hpo_term: Partial absence of cerebellar vermis
chpo_term: 小脑蚓部部分缺如
id: HP:0002335
hpo_term: Agenesis of cerebellar vermis
chpo_term: 小脑蚓部发育不全
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0002198
hpo_term: Dilated fourth ventricle
chpo_term: 第四脑室扩张
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000627
hpo_term: Posterior embryotoxon
chpo_term: 后胚胎环
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:614372):
Mannose-Binding lectin deficiency
MANNOSE-BINDING LECTIN DEFICIENCY

Associated phenotypes (HPO):
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0005353
hpo_term: Recurrent herpes
chpo_term: 复发性疱疹
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0005381
hpo_term: Recurrent meningococcal disease
chpo_term: 反复脑膜炎球菌感染
id: HP:0031699
hpo_term: Disseminated cryptosporidium infection
chpo_term: 播散性隐孢子虫感染
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002742
hpo_term: Recurrent Klebsiella infections
chpo_term: 反复克雷伯杆菌感染
Disease (OMIM:612703):
Microcephaly 7, primary, autosomal recessive
MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
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:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0006315
hpo_term: Solitary median maxillary central incisor
chpo_term: 单个上门齿
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (OMIM:614399):
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0040131
hpo_term: Abnormal motor nerve conduction velocity
chpo_term: 运动神经传导速度异常
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0006597
hpo_term: Diaphragmatic paralysis
chpo_term: 膈肌麻痹
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0009110
hpo_term: Diaphragmatic eventration
chpo_term: 膈肌缺陷
id: HP:0009113
hpo_term: Diaphragmatic weakness
chpo_term: 膈肌无力
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:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0003713
hpo_term: Muscle fiber necrosis
chpo_term: 肌纤维坏死
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
Disease (OMIM:617690):
Ovarian dysgenesis 5
OVARIAN DYSGENESIS 5

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
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:0011969
hpo_term: Elevated circulating luteinizing hormone level
chpo_term: 血液黄体生成素水平升高
id: HP:0008232
hpo_term: Elevated circulating follicle stimulating hormone level
chpo_term: 血液卵泡刺激素水平升高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008214
hpo_term: Decreased serum estradiol
chpo_term: 血清雌二醇水平降低
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:607483):
THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE)
Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
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:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002385
hpo_term: Paraparesis
chpo_term: 下肢轻瘫
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002062
hpo_term: Morphological abnormality of the pyramidal tract
chpo_term: 锥体束的形态异常
id: HP:0012179
hpo_term: Craniofacial dystonia
chpo_term: 头面部肌张力障碍
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0002134
hpo_term: Abnormal basal ganglia morphology
chpo_term: 基底节形态异常
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0030147
hpo_term: Truncal titubation
chpo_term: 躯干摇晃/躯干蹒跚
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002371
hpo_term: Loss of speech
chpo_term: 言语不能
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
Disease (OMIM:601794):
COLOBOMA-OBESITY-HYPOGENITALISM-MENTAL RETARDATION SYNDROME
Coloboma-Obesity-Hypogenitalism-Mental retardation syndrome

Associated phenotypes (HPO):
id: HP:0006889
hpo_term: Intellectual disability, borderline
chpo_term: 边缘状态智力障碍
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000480
hpo_term: Retinal coloboma
chpo_term: 视网膜缺损
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:130060):
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
Ehlers-Danlos syndrome, arthrochalasia type, 1

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001058
hpo_term: Poor wound healing
chpo_term: 伤口愈合不良
id: HP:0001476
hpo_term: Delayed closure of the anterior fontanelle
chpo_term: 前囟闭合延迟
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0005191
hpo_term: Congenital knee dislocation
chpo_term: 先天性膝关节脱位
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:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0001027
hpo_term: Soft, doughy skin
chpo_term: 面团样柔性皮肤
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0003502
hpo_term: Mild short stature
chpo_term: 轻度身材矮小
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0003088
hpo_term: Premature osteoarthritis
chpo_term: 早发性关节炎
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
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:0008780
hpo_term: Congenital bilateral hip dislocation
chpo_term: 先天性双侧髋关节脱位
id: HP:0032153
hpo_term: Joint subluxation
chpo_term: 关节半脱位
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613390):
Fanconi anemia, complementation group O
FANCONI ANEMIA, COMPLEMENTATION GROUP O

Associated phenotypes (HPO):
id: HP:0025023
hpo_term: Rectal atresia
chpo_term: 直肠闭锁
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0001245
hpo_term: Small thenar eminence
chpo_term: 小鱼际小
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0003241
hpo_term: External genital hypoplasia
chpo_term: 外生殖器发育不良
id: HP:0040012
hpo_term: Chromosome breakage
chpo_term: 染色体断裂
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0009777
hpo_term: Absent thumb
chpo_term: 拇指缺如
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:211770):
Cahmr syndrome
CAHMR SYNDROME

Associated phenotypes (HPO):
id: HP:0004554
hpo_term: Generalized hypertrichosis
chpo_term: 泛发性多毛症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007971
hpo_term: Lamellar cataract
chpo_term: 板层白内障
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:601780):
Ceroid lipofuscinosis, neuronal, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6

Associated phenotypes (HPO):
id: HP:0002333
hpo_term: Motor deterioration
chpo_term: 运动功能减退
id: HP:0001311
hpo_term: Abnormal nervous system electrophysiology
chpo_term: 神经系统电生理学异常
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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: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: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: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
Disease (OMIM:620028):
Developmental and epileptic encephalopathy 106
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002266
hpo_term: Focal clonic seizure
chpo_term: 局灶性阵挛性发作
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
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:0020045
hpo_term: Esodeviation
chpo_term: 内斜视
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:619871):
Corneal dystrophy, punctiform and polychromatic pre-Descemet
CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0034327
hpo_term: Posterior corneal stroma punctiform multicolored opacities
chpo_term: 角膜后基质点状多色混浊
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传