TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:77258):
Trichorhinophalangeal syndrome type 1

Associated phenotypes (HPO):
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0010579
hpo_term: Cone-shaped epiphysis
chpo_term: 锥形骨骺
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0011341
hpo_term: Long upper lip
chpo_term: 上唇肥厚
id: HP:0011910
hpo_term: Shortening of all phalanges of fingers
chpo_term: 全部指骨短
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001808
hpo_term: Fragile nails
chpo_term: 脆甲
id: HP:0001820
hpo_term: Leukonychia
chpo_term: 白甲
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0005743
hpo_term: Avascular necrosis of the capital femoral epiphysis
chpo_term: 股骨头骨骺缺血性坏死
id: HP:0011069
hpo_term: Supernumerary tooth
chpo_term: 多生牙
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:206572):
Adult-onset overlap myositis
Overlap myositis
Non-specific myositis

Associated phenotypes (HPO):
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003119
hpo_term: Abnormal circulating lipid concentration
chpo_term: 脂代谢异常
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
id: HP:0011838
hpo_term: Sclerodactyly
chpo_term: 指硬皮病
id: HP:0025131
hpo_term: Finger swelling
chpo_term: 手指肿胀
id: HP:0025142
hpo_term: Constitutional symptom
chpo_term: 全身性症状
id: HP:0030859
hpo_term: Anti-topoisomerase I antibody positivity
chpo_term: 抗拓扑异构酶 I 抗体阳性
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0032169
hpo_term: Severe infection
chpo_term: 重度感染
id: HP:0033040
hpo_term: Anti-Sm antibody positivity
chpo_term: 抗Sm抗体阳性
id: HP:0033555
hpo_term: Anti-Ro/SS-A antibody positivity
chpo_term: 抗 Ro/SS-A 抗体阳性
id: HP:0033560
hpo_term: Anti-PM-Scl antibody positivity
chpo_term: 抗PM-Scl抗体阳性
id: HP:0034088
hpo_term: Anti-Ku antibody positivity
chpo_term: 抗Ku抗体阳性
id: HP:0034093
hpo_term: Anti-Ro52/TRIM21 antibody positivity
chpo_term: 抗Ro52/TRIM21抗体阳性
id: HP:0100296
hpo_term: Perifascicular muscle fiber atrophy
chpo_term: 肌束周围肌纤维萎缩
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003549
hpo_term: Abnormality of connective tissue
chpo_term: 结缔组织异常
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0004269
hpo_term: Subluxation of the small joints of the hand
chpo_term: 手的小关节脱位
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0009763
hpo_term: Limb pain
chpo_term: 肢体疼痛
id: HP:0011121
hpo_term: Abnormality of skin morphology
chpo_term: 皮肤形态异常
id: HP:0100324
hpo_term: Scleroderma
chpo_term: 硬皮病
id: HP:0001370
hpo_term: Rheumatoid arthritis
chpo_term: 类风湿关节炎
Disease (ORPHA:793):
SAPHO syndrome
Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome

Associated phenotypes (HPO):
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0002570
hpo_term: Steatorrhea
chpo_term: 脂肪泻
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0005464
hpo_term: Craniofacial osteosclerosis
chpo_term: 颅面骨硬化
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0010622
hpo_term: Neoplasm of the skeletal system
chpo_term: 骨骼系统肿瘤
id: HP:0100686
hpo_term: Enthesitis
chpo_term: 附着点炎
id: HP:0100769
hpo_term: Synovitis
chpo_term: 滑膜炎
id: HP:0100781
hpo_term: Abnormal sacroiliac joint morphology
chpo_term: 骶髂关节形态异常
id: HP:0100847
hpo_term: Palmoplantar pustulosis
chpo_term: 掌跖脓疱病
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0100774
hpo_term: Hyperostosis
chpo_term: 骨质增生
Disease (ORPHA:796):
Sandhoff disease

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
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:0002333
hpo_term: Motor deterioration
chpo_term: 运动功能减退
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0004343
hpo_term: Abnormal glycosphingolipid metabolism
chpo_term: 鞘糖脂代谢异常
id: HP:0007272
hpo_term: Progressive psychomotor deterioration
chpo_term: 进行性精神运动恶化
id: HP:0010729
hpo_term: Cherry red spot of the macula
chpo_term: 黄斑樱桃红斑
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:324604):
Classic MmD
Classic multiminicore myopathy
Classic multiminicore disease

Associated phenotypes (HPO):
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
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:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0002877
hpo_term: Nocturnal hypoventilation
chpo_term: 夜间低通气
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0003327
hpo_term: Axial muscle weakness
chpo_term: 中轴肌无力
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004889
hpo_term: Intermittent episodes of respiratory insufficiency due to muscle weakness
chpo_term: 肌无力所致的间歇性呼吸功能不全发作
id: HP:0005991
hpo_term: Limited neck flexion
chpo_term: 颈部屈曲受限
id: HP:0009058
hpo_term: Increased muscle lipid content
chpo_term: 肌肉脂肪含量增加
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0100295
hpo_term: Muscle fiber atrophy
chpo_term: 肌纤维萎缩
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001667
hpo_term: Right ventricular hypertrophy
chpo_term: 右心室肥厚
id: HP:0001708
hpo_term: Right ventricular failure
chpo_term: 右心衰竭
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0030091
hpo_term: Absent muscle fiber merosin
chpo_term: 肌纤维层粘连蛋白α2缺乏
Disease (ORPHA:790):
Retinoblastoma

Associated phenotypes (HPO):
id: HP:0009919
hpo_term: Retinoblastoma
chpo_term: 视网膜母细胞瘤
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000555
hpo_term: Leukocoria
chpo_term: 白瞳症
id: HP:0031615
hpo_term: Hypopyon
chpo_term: 前房积脓
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0001100
hpo_term: Heterochromia iridis
chpo_term: 虹膜异色
id: HP:0001909
hpo_term: Leukemia
chpo_term: 白血病
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0002669
hpo_term: Osteosarcoma
chpo_term: 骨肉瘤
id: HP:0002859
hpo_term: Rhabdomyosarcoma
chpo_term: 横纹肌肉瘤
id: HP:0002861
hpo_term: Melanoma
chpo_term: 黑色素瘤
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0007862
hpo_term: Retinal calcification
chpo_term: 视网膜钙化
id: HP:0007902
hpo_term: Vitreous hemorrhage
chpo_term: 玻璃体出血
id: HP:0011886
hpo_term: Hyphema
chpo_term: 前房积血
id: HP:0012372
hpo_term: Abnormal eye morphology
chpo_term: 眼部形态异常
id: HP:0025244
hpo_term: Subretinal pigment epithelium hemorrhage
chpo_term: 视网膜色素上皮下出血
id: HP:0025337
hpo_term: Red eye
chpo_term: 红眼
id: HP:0100243
hpo_term: Leiomyosarcoma
chpo_term: 平滑肌肉瘤
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0009733
hpo_term: Glioma
chpo_term: 神经胶质瘤
id: HP:0012254
hpo_term: Ewing sarcoma
chpo_term: 尤文肉瘤
id: HP:0030408
hpo_term: Pineoblastoma
chpo_term: 松果体母细胞瘤
Disease (ORPHA:792):
XLRS
X-linked retinoschisis
X-linked juvenile retinoschisis

Associated phenotypes (HPO):
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0030502
hpo_term: Retinoschisis
chpo_term: 视网膜劈裂症
id: HP:0000493
hpo_term: Abnormal foveal morphology
chpo_term: 黄斑中央凹形态异常
id: HP:0007722
hpo_term: Retinal pigment epithelial atrophy
chpo_term: 视网膜色素上皮萎缩
id: HP:0007902
hpo_term: Vitreous hemorrhage
chpo_term: 玻璃体出血
id: HP:0007984
hpo_term: Electronegative electroretinogram
chpo_term: 视网膜电流图负波形
id: HP:0025158
hpo_term: Hyperautofluorescent retinal lesion
chpo_term: 视网膜自发强荧光病变
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0030824
hpo_term: Mizuo phenomenon
chpo_term: 水尾现象
id: HP:0030825
hpo_term: Absent foveal reflex
chpo_term: 黄斑中心凹反射缺失
Disease (ORPHA:791):
Retinitis pigmentosa

Associated phenotypes (HPO):
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0007675
hpo_term: Progressive night blindness
chpo_term: 渐进性夜盲症
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0008046
hpo_term: Abnormal retinal vascular morphology
chpo_term: 视网膜脉管形态异常
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000563
hpo_term: Keratoconus
chpo_term: 圆锥角膜
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0001105
hpo_term: Retinal atrophy
chpo_term: 视网膜萎缩
id: HP:0007787
hpo_term: Posterior subcapsular cataract
chpo_term: 后囊下白内障
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0007994
hpo_term: Peripheral visual field loss
chpo_term: 周边视野缺失
id: HP:0011505
hpo_term: Cystoid macular edema
chpo_term: 囊样黄斑水肿
id: HP:0012426
hpo_term: Optic disc drusen
chpo_term: 视盘玻璃疣
id: HP:0030466
hpo_term: Abnormal full-field electroretinogram
chpo_term: 全视野视网膜电图异常
id: HP:0030488
hpo_term: Abnormal central response of multifocal electroretinogram
chpo_term: 多焦视网膜电图中心反应异常
id: HP:0030610
hpo_term: Photoreceptor outer segment loss on macular OCT
chpo_term: OCT 测量法黄斑区光感受器外段损失
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0030786
hpo_term: Photopsia
chpo_term: 闪光感
Disease (ORPHA:157997):
Benign cephalic histiocytosis

Associated phenotypes (HPO):
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0100727
hpo_term: Histiocytosis
chpo_term: 组织细胞增多症
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0011123
hpo_term: Inflammatory abnormality of the skin
chpo_term: 皮肤炎症反应
Disease (ORPHA:157991):
Generalized eruptive histiocytoma
Generalized eruptive histiocytosis

Associated phenotypes (HPO):
id: HP:0025475
hpo_term: Erythematous macule
chpo_term: 红斑病
id: HP:0030350
hpo_term: Erythematous papule
chpo_term: 红色丘疹
id: HP:0100727
hpo_term: Histiocytosis
chpo_term: 组织细胞增多症
id: HP:0040186
hpo_term: Maculopapular exanthema
chpo_term: 斑丘疹样皮疹
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0031901
hpo_term: Elevated total serum tryptase
chpo_term: 血清肥大细胞β-类胰蛋白酶浓度升高
id: HP:0032061
hpo_term: Hypereosinophilia
chpo_term: 高嗜酸性粒细胞
id: HP:0040126
hpo_term: Abnormal vitamin B12 level
chpo_term: 血清钴胺素异常
id: HP:0001909
hpo_term: Leukemia
chpo_term: 白血病
id: HP:0005585
hpo_term: Spotty hyperpigmentation
chpo_term: 点滴状色素沉着
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0031871
hpo_term: Abnormal Langerhans cell morphology
chpo_term: 朗格汉斯细胞形态异常
Disease (ORPHA:319251):
Rift valley fever

Associated phenotypes (HPO):
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0003237
hpo_term: Increased circulating IgG level
chpo_term: 循环IgG水平升高
id: HP:0020071
hpo_term: Viremia
chpo_term: 病毒血症
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000573
hpo_term: Retinal hemorrhage
chpo_term: 视网膜出血
id: HP:0000575
hpo_term: Scotoma
chpo_term: 盲点
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003496
hpo_term: Increased circulating IgM level
chpo_term: 循环IgM水平升高
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0025188
hpo_term: Retinal vasculitis
chpo_term: 视网膜血管炎
id: HP:0032118
hpo_term: Retinitis
chpo_term: 视网膜炎
id: HP:0032323
hpo_term: Periodic fever
chpo_term: 周期性发热
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001977
hpo_term: Abnormal thrombosis
chpo_term: 异常血栓形成
id: HP:0002248
hpo_term: Hematemesis
chpo_term: 呕血
id: HP:0002249
hpo_term: Melena
chpo_term: 黑便
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0002385
hpo_term: Paraparesis
chpo_term: 下肢轻瘫
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
id: HP:0003781
hpo_term: Excessive salivation
chpo_term: 唾液分泌过多
id: HP:0004372
hpo_term: Reduced consciousness/confusion
chpo_term: 意识减弱/意识错乱
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0005542
hpo_term: Prolonged whole-blood clotting time
chpo_term: 全血凝血时间延长
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0012229
hpo_term: CSF pleocytosis
chpo_term: 脑脊液细胞增多
id: HP:0025013
hpo_term: Decerebrate rigidity
chpo_term: 去大脑僵直
id: HP:0031691
hpo_term: Severe viral infection
chpo_term: 重症病毒感染
id: HP:0040049
hpo_term: Macular edema
chpo_term: 黄斑水肿
Disease (ORPHA:1803):
Rivera-Perez-Salas syndrome
Thoracolimb dysplasia, Rivera type
Thoracomelic dysplasia

Associated phenotypes (HPO):
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001591
hpo_term: Bell-shaped thorax
chpo_term: 钟形胸
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002991
hpo_term: Abnormality of fibula morphology
chpo_term: 腓骨形态异常
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0005019
hpo_term: Diaphyseal thickening
chpo_term: 骨干增粗
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
Disease (ORPHA:1802):
Ghosal syndrome
Diaphyseal dysplasia-anemia syndrome
Ghosal hematodiaphyseal dysplasia

Associated phenotypes (HPO):
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常
id: HP:0002823
hpo_term: Abnormality of femur morphology
chpo_term: 股骨形态异常
id: HP:0002992
hpo_term: Abnormality of tibia morphology
chpo_term: 胫骨形态异常
id: HP:0003103
hpo_term: Abnormal cortical bone morphology
chpo_term: 皮质骨形态异常
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004493
hpo_term: Craniofacial hyperostosis
chpo_term: 颅面骨骨质增生
id: HP:0005019
hpo_term: Diaphyseal thickening
chpo_term: 骨干增粗
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0010978
hpo_term: Abnormality of immune system physiology
chpo_term: 免疫系统功能异常
Disease (ORPHA:284979):
Neonatal Marfan syndrome
Neonatal MFS

Associated phenotypes (HPO):
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0002097
hpo_term: Emphysema
chpo_term: 气肿
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000485
hpo_term: Megalocornea
chpo_term: 巨角膜
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0001704
hpo_term: Tricuspid valve prolapse
chpo_term: 三尖瓣脱垂
id: HP:0001713
hpo_term: Abnormal cardiac ventricle morphology
chpo_term: 心室形态异常
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0004970
hpo_term: Ascending tubular aorta aneurysm
chpo_term: 生主动脉动脉瘤
id: HP:0008124
hpo_term: Talipes calcaneovarus
chpo_term: 仰趾内翻足
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0010511
hpo_term: Long toe
chpo_term: 长脚趾
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0100625
hpo_term: Enlarged thorax
chpo_term: 胸廓扩张
id: HP:0100693
hpo_term: Iridodonesis
chpo_term: 虹膜震颤
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
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:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002616
hpo_term: Aortic root aneurysm
chpo_term: 主动脉根部瘤
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0009901
hpo_term: Crumpled ear
chpo_term: 皱耳
id: HP:0012771
hpo_term: Increased arm span
chpo_term: 臂展增加