TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:416):
Primary hyperoxaluria

Associated phenotypes (HPO):
id: HP:0003159
hpo_term: Hyperoxaluria
chpo_term: 高草酸尿症
id: HP:0008672
hpo_term: Calcium oxalate nephrolithiasis
chpo_term: 草酸钙肾结石
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0004417
hpo_term: Intermittent claudication
chpo_term: 间歇性跛行
id: HP:0005789
hpo_term: Generalized osteosclerosis
chpo_term: 周身性骨硬化
id: HP:0006479
hpo_term: Abnormal dental pulp morphology
chpo_term: 牙髓形态异常
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0011072
hpo_term: Rootless teeth
chpo_term: 无根牙
id: HP:0011506
hpo_term: Choroidal neovascularization
chpo_term: 脉络膜新生血管
id: HP:0012072
hpo_term: Aciduria
chpo_term: 酸性尿
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0012722
hpo_term: Heart block
chpo_term: 心脏传导阻滞
id: HP:0025324
hpo_term: Arterial occlusion
chpo_term: 动脉闭塞
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0031981
hpo_term: Elevated urine glycolate
chpo_term: 尿液乙醇酸浓度增加
id: HP:0100758
hpo_term: Gangrene
chpo_term: 坏疽
id: HP:0001063
hpo_term: Acrocyanosis
chpo_term: 手足发绀
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0025520
hpo_term: Calcinosis cutis
chpo_term: 皮肤钙质沉着症
Disease (ORPHA:419):
Hyperprolinemia type 1
Proline oxidase deficiency

Associated phenotypes (HPO):
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003137
hpo_term: Prolinuria
chpo_term: 脯氨酸尿
id: HP:0008358
hpo_term: Hyperprolinemia
chpo_term: 高脯氨酸血症
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
Disease (ORPHA:412):
Remnant hyperlipoproteinemia
Broad-beta disease
HLP type 3
Hyperlipidemia type 3
Familial dyslipidemia type 3
Hyperlipoproteinemia type 3
Dysbetalipoproteinemia

Associated phenotypes (HPO):
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0003141
hpo_term: Increased LDL cholesterol concentration
chpo_term: 高β-脂蛋白血症
id: HP:0003233
hpo_term: Decreased HDL cholesterol concentration
chpo_term: 低α-脂蛋白血症
id: HP:0000660
hpo_term: Lipemia retinalis
chpo_term: 视网膜脂血症
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001013
hpo_term: Eruptive xanthomas
chpo_term: 发疹性黄瘤
id: HP:0001084
hpo_term: Corneal arcus
chpo_term: 角膜环
id: HP:0001114
hpo_term: Xanthelasma
chpo_term: 睑黄瘤
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002635
hpo_term: Type IV atherosclerotic lesion
chpo_term: IV型动脉粥样硬化病变
id: HP:0010874
hpo_term: Tendon xanthomatosis
chpo_term: 腱黄瘤病
id: HP:0025530
hpo_term: Xanthomas of the palmar creases
chpo_term: 手掌褶皱黄色瘤
id: HP:0031290
hpo_term: Tuberous xanthoma
chpo_term: 结节性黄瘤
id: HP:0000799
hpo_term: Renal steatosis
chpo_term: 肾脂肪变性
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0001735
hpo_term: Acute pancreatitis
chpo_term: 急性胰腺炎
id: HP:0001997
hpo_term: Gout
chpo_term: 痛风
id: HP:0004943
hpo_term: Accelerated atherosclerosis
chpo_term: 加速性动脉粥样硬化
id: HP:0004950
hpo_term: Peripheral arterial stenosis
chpo_term: 外周动脉狭窄
id: HP:0005181
hpo_term: Premature coronary artery atherosclerosis
chpo_term: 早发性冠心病
id: HP:0012397
hpo_term: Aortic atherosclerotic lesion
chpo_term: 早发冠状动脉粥样硬化
Disease (ORPHA:415):
ORNT1 deficiency
Ornithine carrier deficiency
HHH syndrome
Ornithine translocase deficiency
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Triple H syndrome

Associated phenotypes (HPO):
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0011965
hpo_term: Abnormal circulating citrulline concentration
chpo_term: 瓜氨酸代谢异常
id: HP:0012026
hpo_term: Hyperornithinemia
chpo_term: 高鸟氨酸血症
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002038
hpo_term: Protein avoidance
chpo_term: 蛋白质回避
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002370
hpo_term: Poor coordination
chpo_term: 协调能力下降
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003218
hpo_term: Oroticaciduria
chpo_term: 乳清酸尿症
id: HP:0006846
hpo_term: Acute encephalopathy
chpo_term: 急性脑病
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0011098
hpo_term: Speech apraxia
chpo_term: 失读症
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001950
hpo_term: Respiratory alkalosis
chpo_term: 呼吸性碱中毒
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
id: HP:0007052
hpo_term: Multifocal cerebral white matter abnormalities
chpo_term: 多灶性脑白质异常
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0040030
hpo_term: Chorioretinal hypopigmentation
chpo_term: 脉络膜视网膜色素沉着减退
Disease (ORPHA:572013):
Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome

Associated phenotypes (HPO):
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0025100
hpo_term: Abnormal hippocampus morphology
chpo_term: 海马形态异常
id: HP:0030301
hpo_term: Abnormality of the anterior commissure
chpo_term: 前连合异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
Disease (ORPHA:414):
Hyperornithinemia-gyrate atrophy of choroid and retina syndrome
Ornithine aminotransferase deficiency
Gyrate atrophy of choroid and retina
HOGA
Hyperornithinemia

Associated phenotypes (HPO):
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0012026
hpo_term: Hyperornithinemia
chpo_term: 高鸟氨酸血症
id: HP:0200065
hpo_term: Chorioretinal degeneration
chpo_term: 脉络膜视网膜变性
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000523
hpo_term: Subcapsular cataract
chpo_term: 囊膜下白内障
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0001103
hpo_term: Abnormal macular morphology
chpo_term: 黄斑形态异常
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0007675
hpo_term: Progressive night blindness
chpo_term: 渐进性夜盲症
id: HP:0040031
hpo_term: Chorioretinal hyperpigmentation
chpo_term: 脉络膜视网膜色素沉着过多
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
Disease (ORPHA:452):
X-linked lissencephaly with abnormal genitalia
X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome
X-linked lissencephaly with ambiguous genitalia
XLAG (X-linked lissencephaly with abnormal genitalia) syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001257
hpo_term: Spasticity
chpo_term: 痉挛
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:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001738
hpo_term: Exocrine pancreatic insufficiency
chpo_term: 胰腺外分泌功能不全
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
Disease (ORPHA:284400):
Poorly differentiated neuroendocrine carcinoma of the bladder
Small cell bladder carcinoma
Small cell carcinoma of the urinary bladder
Small cell carcinoma of the bladder
Small cell bladder cancer
SCCB

Associated phenotypes (HPO):
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0009725
hpo_term: Bladder neoplasm
chpo_term: 膀胱肿瘤
id: HP:0100518
hpo_term: Dysuria
chpo_term: 排尿困难
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
Disease (ORPHA:455):
SEI
Ichthyosis bullosa of Siemens
Superficial epidermolytic ichthyosis

Associated phenotypes (HPO):
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0100792
hpo_term: Acantholysis
chpo_term: 皮肤棘层松解
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
Disease (ORPHA:454):
Acquired ichthyosis

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0006775
hpo_term: Multiple myeloma
chpo_term: 多发性骨髓瘤
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0100242
hpo_term: Sarcoma
chpo_term: 肉瘤
id: HP:0100326
hpo_term: Immunologic hypersensitivity
chpo_term: 免疫过敏
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
Disease (ORPHA:85112):
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome

Associated phenotypes (HPO):
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0006739
hpo_term: Squamous cell carcinoma of the skin
chpo_term: 皮肤鳞状上皮细胞癌
id: HP:0012245
hpo_term: Sex reversal
chpo_term: 性反转
Disease (ORPHA:240112):
PSP-PNFA
PSP-AOS
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
Progressive supranuclear palsy-apraxia of speech syndrome

Associated phenotypes (HPO):
id: HP:0011098
hpo_term: Speech apraxia
chpo_term: 失读症
id: HP:0006977
hpo_term: Grammar-specific speech disorder
chpo_term: 语法性语言障碍
id: HP:0030391
hpo_term: Spoken word recognition deficit
chpo_term: 口语词汇识别能力降低
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002549
hpo_term: Deficit in phonologic short-term memory
chpo_term: 语音短时记忆缺陷
id: HP:0009088
hpo_term: Speech articulation difficulties
chpo_term: 言语表达困难
id: HP:0031434
hpo_term: Abnormal speech prosody
chpo_term: 说话韵律异常
id: HP:0007158
hpo_term: Progressive extrapyramidal muscular rigidity
chpo_term: 进行性锥体外系肌肉僵直
id: HP:0000511
hpo_term: Vertical supranuclear gaze palsy
chpo_term: 垂直性核上性凝视麻痹
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0030784
hpo_term: Anomic aphasia
chpo_term: 命名性失语症
id: HP:0025268
hpo_term: Stuttering
chpo_term: 口吃
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0030217
hpo_term: Limb apraxia
chpo_term: 肢体失用症
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
Disease (ORPHA:94068):
SEDC
Spranger-Wiedemann disease
Congenital spondyloepiphyseal dysplasia
Spondyloepiphyseal dysplasia congenita

Associated phenotypes (HPO):
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0003521
hpo_term: Disproportionate short-trunk short stature
chpo_term: 不成比例的短躯干性矮小
id: HP:0010575
hpo_term: Dysplasia of the femoral head
chpo_term: 股骨头发育不良
id: HP:0045060
hpo_term: Aplasia/hypoplasia involving bones of the extremities
chpo_term: 四肢骨发育不良/发育不全
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
id: HP:0009824
hpo_term: Upper limb undergrowth
chpo_term: 上肢发育不良
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0030838
hpo_term: Hip pain
chpo_term: 髋痛
id: HP:0040194
hpo_term: Increased head circumference
chpo_term: 头围增加
id: HP:0100569
hpo_term: Abnormally ossified vertebrae
chpo_term: 椎骨异常骨化
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001552
hpo_term: Barrel-shaped chest
chpo_term: 桶状胸
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002795
hpo_term: Abnormal respiratory system physiology
chpo_term: 呼吸系统生理异常
id: HP:0002996
hpo_term: Limited elbow movement
chpo_term: 肘运动受限
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003097
hpo_term: Short femur
chpo_term: 短股骨
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0008462
hpo_term: Cervical instability
chpo_term: 颈椎不稳
id: HP:0008755
hpo_term: Laryngotracheomalacia
chpo_term: 喉气管软化
id: HP:0010585
hpo_term: Small epiphyses
chpo_term: 小骨骺
id: HP:0030839
hpo_term: Knee pain
chpo_term: 膝痛
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
Disease (ORPHA:94066):
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
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:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0009835
hpo_term: Aplasia/Hypoplasia of the distal phalanges of the hand
chpo_term: 末节指骨发育不良/发育不全
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0004397
hpo_term: Ectopic anus
chpo_term: 肛门异位
id: HP:0010185
hpo_term: Aplasia/Hypoplasia of the distal phalanges of the toes
chpo_term: 末节趾骨发育不良/发育不全
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (ORPHA:446):
Neonatal hemochromatosis

Associated phenotypes (HPO):
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002612
hpo_term: Congenital hepatic fibrosis
chpo_term: 先天性肝纤维化
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0003452
hpo_term: Increased serum iron
chpo_term: 血清铁离子增高
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0006709
hpo_term: Aplasia/Hypoplasia of the nipples
chpo_term: 乳头发育不全/不良
id: HP:0100542
hpo_term: Abnormal localization of kidney
chpo_term: 肾脏位置异常
Disease (ORPHA:447):
PNH
Paroxysmal nocturnal hemoglobinuria
Marchiafava-Micheli disease

Associated phenotypes (HPO):
id: HP:0030272
hpo_term: Abnormal erythrocyte enzyme level
chpo_term: 红细胞酶水平异常
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0003641
hpo_term: Hemoglobinuria
chpo_term: 血红蛋白尿
id: HP:0025406
hpo_term: Asthenia
chpo_term: 虚弱
id: HP:0001907
hpo_term: Thromboembolism
chpo_term: 血栓栓塞症
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
id: HP:0002625
hpo_term: Deep venous thrombosis
chpo_term: 深静脉血栓形成
id: HP:0003138
hpo_term: Increased blood urea nitrogen
chpo_term: 血液尿素氮升高
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0008282
hpo_term: Unconjugated hyperbilirubinemia
chpo_term: 高非结合胆红素血症
id: HP:0012543
hpo_term: Hemosiderinuria
chpo_term: 含铁血黄素尿症
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0020181
hpo_term: Reduced haptoglobin level
chpo_term: 结合珠蛋白水平降低
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0032106
hpo_term: Conjunctival icterus
chpo_term: 结膜黄疸
id: HP:0032147
hpo_term: Erythromelalgia
chpo_term: 红斑性肢痛症
id: HP:0040303
hpo_term: Decreased serum iron
chpo_term: 血清铁下降
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0002204
hpo_term: Pulmonary embolism
chpo_term: 肺栓塞
id: HP:0002639
hpo_term: Budd-Chiari syndrome
chpo_term: Budd-Chiari综合征
id: HP:0004420
hpo_term: Arterial thrombosis
chpo_term: 动脉血栓形成
id: HP:0012132
hpo_term: Erythroid hyperplasia
chpo_term: 红系增生
id: HP:0030248
hpo_term: Mesenteric venous thrombosis
chpo_term: 肠系膜静脉血栓形成
id: HP:0032043
hpo_term: Odynophagia
chpo_term: 吞咽疼痛
id: HP:0001994
hpo_term: Renal Fanconi syndrome
chpo_term: 肾范可尼综合征
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0025271
hpo_term: Esophageal spasms
chpo_term: 食管痉挛
Disease (ORPHA:441):
Bradbury-Eggleston syndrome
Pure idiopatic dysautonomia
Idiopathic orthostatic hypotension
Pure autonomic failure
Pure dysautonomia
PAF

Associated phenotypes (HPO):
id: HP:0000970
hpo_term: Anhidrosis
chpo_term: 无汗症
id: HP:0001278
hpo_term: Orthostatic hypotension
chpo_term: 体位性低血压
id: HP:0012099
hpo_term: Abnormality of circulating catecholamine level
chpo_term: 血儿茶酚胺水平异常
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:0025142
hpo_term: Constitutional symptom
chpo_term: 全身性症状
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0100518
hpo_term: Dysuria
chpo_term: 排尿困难
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿