TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:209964):
Solitary rectal ulcer syndrome

Associated phenotypes (HPO):
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002254
hpo_term: Intermittent diarrhea
chpo_term: 间歇性腹泻
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0500005
hpo_term: Anal pain
chpo_term: 肛门疼痛
id: HP:0000002
hpo_term: Abnormality of body height
chpo_term: 身高异常
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002035
hpo_term: Rectal prolapse
chpo_term: 直肠脱垂
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0012390
hpo_term: Anal fissure
chpo_term: 肛裂
id: HP:0012702
hpo_term: Tenesmus
chpo_term: 里急后重
id: HP:0025085
hpo_term: Bloody diarrhea
chpo_term: 便血
id: HP:0025086
hpo_term: Bloody mucoid diarrhea
chpo_term: 血性粘液性腹泻
id: HP:0012425
hpo_term: Stercoral ulcer
chpo_term: 粪性溃疡
Disease (ORPHA:199276):
Familial multiple lipomatosis

Associated phenotypes (HPO):
id: HP:0001012
hpo_term: Multiple lipomas
chpo_term: 多发性脂肪瘤
id: HP:0001031
hpo_term: Subcutaneous lipoma
chpo_term: 皮下脂肪瘤
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0006773
hpo_term: Cutaneous angiolipomas
chpo_term: 皮肤血管脂肪瘤
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0025502
hpo_term: Overweight
chpo_term: 超重
id: HP:0007596
hpo_term: Painful subcutaneous lipomas
chpo_term: 痛性皮下脂肪瘤
id: HP:0007618
hpo_term: Subcutaneous calcification
chpo_term: 皮下钙化
Disease (ORPHA:254531):
Temple syndrome due to paternal 14q32.2 hypomethylation

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0004673
hpo_term: Decreased facial expression
chpo_term: 面部表情减少
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:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
Disease (ORPHA:97362):
Renal hypoplasia, bilateral

Associated phenotypes (HPO):
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0002009
hpo_term: Potter facies
chpo_term: 波特面容
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012213
hpo_term: Decreased glomerular filtration rate
chpo_term: 肾小球滤过率下降
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0002907
hpo_term: Microscopic hematuria
chpo_term: 镜下血尿症
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0025466
hpo_term: Beta 2-microglobulinuria
chpo_term: β2-微球蛋白尿症
id: HP:0100520
hpo_term: Oliguria
chpo_term: 少尿症
Disease (ORPHA:254534):
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation

Associated phenotypes (HPO):
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0006267
hpo_term: Large placenta
chpo_term: 大胎盘
id: HP:0006665
hpo_term: Coat hanger sign of ribs
chpo_term: 衣架样肋骨
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0001540
hpo_term: Diastasis recti
chpo_term: 腹直肌分离
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
Disease (ORPHA:494444):
DIAPH1-related sensorineural deafness-thrombocytopenia syndrome
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

Associated phenotypes (HPO):
id: HP:0000408
hpo_term: Progressive sensorineural hearing impairment
chpo_term: 渐进性感音神经性听力损失
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0011877
hpo_term: Increased mean platelet volume
chpo_term: 平均血小板体积增大
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001891
hpo_term: Iron deficiency anemia
chpo_term: 缺铁性贫血
id: HP:0006285
hpo_term: Enamel hypomineralization
chpo_term: 牙釉质矿化不足
Disease (ORPHA:178333):
Åland Islands eye disease
AIED
Forsius-Eriksson type ocular albinism
Forsius-Eriksson syndrome

Associated phenotypes (HPO):
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
id: HP:0007894
hpo_term: Hypopigmentation of the fundus
chpo_term: 眼底的色素沉着不足
id: HP:0030513
hpo_term: Difficulty adjusting from light to dark
chpo_term: 从明亮到黑暗适应困难
Disease (ORPHA:399058):
Alpha-B crystallin-related late-onset distal myopathy
Late-onset distal crystallinopathy
Alpha-B crystallin-related late-onset myopathy

Associated phenotypes (HPO):
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0009063
hpo_term: Progressive distal muscle weakness
chpo_term: 进行性远端肌无力
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003325
hpo_term: Limb-girdle muscle weakness
chpo_term: 肢带肌无力
id: HP:0003327
hpo_term: Axial muscle weakness
chpo_term: 中轴肌无力
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
id: HP:0003736
hpo_term: Autophagic vacuoles
chpo_term: 自噬空泡
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0030225
hpo_term: Accumulation of muscle fiber desmin
chpo_term: 肌肉纤维结蛋白蓄积
id: HP:0040081
hpo_term: Abnormal circulating creatine kinase concentration
chpo_term: 血液肌酸激酶水平异常
id: HP:0100020
hpo_term: Posterior capsular cataract
chpo_term: 后囊型白内障
id: HP:0100299
hpo_term: Muscle fiber inclusion bodies
chpo_term: 肌纤维包涵体
id: HP:0001349
hpo_term: Facial diplegia
chpo_term: 双侧面瘫
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0009073
hpo_term: Progressive proximal muscle weakness
chpo_term: 进行性近端肌无力
Disease (ORPHA:329178):
CDG syndrome type Iu
CDG-Iu
Congenital disorder of glycosylation type 1u
Congenital muscular dystrophy with intellectual disability and severe epilepsy
CDG1U
Carbohydrate deficient glycoprotein syndrome type Iu
CMD with intellectual disability and severe epilepsy
Congenital disorder of glycosylation type Iu
DPM2-CDG

Associated phenotypes (HPO):
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003642
hpo_term: Type I transferrin isoform profile
chpo_term: I型转铁蛋白异构体谱
id: HP:0005781
hpo_term: Contractures of the large joints
chpo_term: 大关节挛缩
id: HP:0007179
hpo_term: Absent smooth pursuit
chpo_term: 平滑追视缺失
id: HP:0011169
hpo_term: Generalized clonic seizure
chpo_term: 全面性阵挛性发作
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001976
hpo_term: Reduced antithrombin III activity
chpo_term: 抗凝血酶 III 活性减低
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003241
hpo_term: External genital hypoplasia
chpo_term: 外生殖器发育不良
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0012762
hpo_term: Cerebral white matter atrophy
chpo_term: 脑白质萎缩
id: HP:0040288
hpo_term: Nasogastric tube feeding
chpo_term: 鼻胃管灌食
Disease (ORPHA:97355):
Atypical parkinsonism in the Caribbean
Caribbean parkinsonism

Associated phenotypes (HPO):
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0000511
hpo_term: Vertical supranuclear gaze palsy
chpo_term: 垂直性核上性凝视麻痹
id: HP:0000571
hpo_term: Hypometric saccades
chpo_term: 扫视不到位
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000727
hpo_term: Frontal lobe dementia
chpo_term: 额叶痴呆
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0001278
hpo_term: Orthostatic hypotension
chpo_term: 体位性低血压
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0002193
hpo_term: Pseudobulbar behavioral symptoms
chpo_term: 假性延髓行为症状
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0005341
hpo_term: Autonomic bladder dysfunction
chpo_term: 自主性膀胱功能障碍
id: HP:0007045
hpo_term: Midline brain calcifications
chpo_term: 脑中线钙化
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0010549
hpo_term: Weakness due to upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍导致的无力
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:0012753
hpo_term: T2 hypointense basal ganglia
chpo_term: 基底节T2序列低信号
id: HP:0030902
hpo_term: Palmomental reflex
chpo_term: 掌颌反射
id: HP:0100315
hpo_term: Lewy bodies
chpo_term: 路易体
Disease (ORPHA:209967):
Episodic ataxia type 6

Associated phenotypes (HPO):
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002183
hpo_term: Phonophobia
chpo_term: 声音恐惧
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
Disease (ORPHA:209951):
Autosomal spastic paraplegia type 18
SPG18

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0007350
hpo_term: Hyperreflexia in upper limbs
chpo_term: 上肢反射亢进
id: HP:0012453
hpo_term: Bilateral wrist flexion contracture
chpo_term: 双侧腕关节弯曲挛缩
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
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:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001583
hpo_term: Rotary nystagmus
chpo_term: 旋转眼球震颤
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0002378
hpo_term: Hand tremor
chpo_term: 手部震颤
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0005830
hpo_term: Flexion contracture of toe
chpo_term: 脚趾屈曲挛缩
id: HP:0005997
hpo_term: Neck joint contracture
chpo_term: 颈部关节挛缩
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0100712
hpo_term: Abnormal lumbar spine morphology
chpo_term: 腰椎形态异常
Disease (ORPHA:199267):
Recurring digital fibrous tumor of childhood
Reye tumor
Infantile digital fibromatosis
Inclusion body fibromatosis

Associated phenotypes (HPO):
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
Disease (ORPHA:263479):
FHI
Fuchs heterochromic iridocyclitis

Associated phenotypes (HPO):
id: HP:0001089
hpo_term: Iris atrophy
chpo_term: 虹膜萎缩
id: HP:0025341
hpo_term: Corneal keratic precipitates
chpo_term: 角膜后沉着物
id: HP:0031701
hpo_term: Anterior chamber inflammatory cells
chpo_term: 前房炎性细胞
id: HP:0100832
hpo_term: Vitreous floaters
chpo_term: 玻璃体漂浮物
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0001100
hpo_term: Heterochromia iridis
chpo_term: 虹膜异色
id: HP:0034820
id: HP:0034821
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007777
hpo_term: Chorioretinal scar
chpo_term: 脉络膜视网膜瘢痕
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0025337
hpo_term: Red eye
chpo_term: 红眼
id: HP:0030534
hpo_term: Abnormal best corrected visual acuity test
chpo_term: 最佳矫正视力测试异常
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0009916
hpo_term: Anisocoria
chpo_term: 瞳孔不等
id: HP:0011958
hpo_term: Retinal perforation
chpo_term: 视网膜穿孔
id: HP:0030554
hpo_term: Best corrected visual acuity 0.1 LogMAR
chpo_term: 最佳矫正视力 0.1 LogMAR
id: HP:0100014
hpo_term: Epiretinal membrane
chpo_term: 视网膜前膜
id: HP:0011484
hpo_term: Posterior synechiae of the anterior chamber
chpo_term: 虹膜后粘连
Disease (ORPHA:97352):
Pellagra

Associated phenotypes (HPO):
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0005263
hpo_term: Gastritis
chpo_term: 胃炎
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0010280
hpo_term: Stomatitis
chpo_term: 口腔炎
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0031258
hpo_term: Delirium
chpo_term: 谵妄
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
id: HP:0100825
hpo_term: Cheilitis
chpo_term: 唇炎
id: HP:0100497
hpo_term: Vitamin B3 deficiency
chpo_term: 维生素B3缺乏症
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000206
hpo_term: Glossitis
chpo_term: 舌炎
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
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:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0025300
hpo_term: Malar rash
chpo_term: 颧部皮疹
id: HP:0031987
hpo_term: Diminished ability to concentrate
chpo_term: 注意力下降
id: HP:0032448
hpo_term: Achlorhydria
chpo_term: 胃酸缺乏症
id: HP:0033505
hpo_term: Livedo reticularis
chpo_term: 网状青斑
id: HP:0100653
hpo_term: Optic neuritis
chpo_term: 视神经炎
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
Disease (ORPHA:29207):
Fiessinger-Leroy disease
Reactive arthritis

Associated phenotypes (HPO):
id: HP:0500006
hpo_term: Urethritis
chpo_term: 尿道炎
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0008391
hpo_term: Dystrophic fingernails
chpo_term: 指甲营养不良
id: HP:0011107
hpo_term: Recurrent aphthous stomatitis
chpo_term: 复发性口疮性口炎
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100686
hpo_term: Enthesitis
chpo_term: 附着点炎
id: HP:0100773
hpo_term: Cartilage destruction
chpo_term: 软骨破坏
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001101
hpo_term: Iritis
chpo_term: 虹膜炎
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0002103
hpo_term: Abnormal pleura morphology
chpo_term: 胸膜异常
id: HP:0003419
hpo_term: Low back pain
chpo_term: 下背部疼痛
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0012219
hpo_term: Erythema nodosum
chpo_term: 结节性红斑
id: HP:0012317
hpo_term: Sacroiliac arthritis
chpo_term: 骶髂关节炎
id: HP:0034438