TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:3241):
Hearing loss-craniofacial syndrome
Deafness-craniofacial syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000200
hpo_term: Short lingual frenulum
chpo_term: 舌系带过短
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
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:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0004524
hpo_term: Temporal hypotrichosis
chpo_term: 颞部少毛症
id: HP:0010297
hpo_term: Bifid tongue
chpo_term: 舌裂
Disease (ORPHA:88):
Idiopathic aplastic anemia
Idiopathic bone marrow failure

Associated phenotypes (HPO):
id: HP:0001896
hpo_term: Reticulocytopenia
chpo_term: 网织细胞减少症
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000573
hpo_term: Retinal hemorrhage
chpo_term: 视网膜出血
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0031364
hpo_term: Ecchymosis
chpo_term: 瘀斑
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
Disease (ORPHA:83454):
Venous malformations with glomus cells
Multiple glomus tumors
Glomuvenous malformation
Glomangiomatosis
Hereditary multiple glomangiomas
VMGLOM

Associated phenotypes (HPO):
id: HP:0012721
hpo_term: Venous malformation
chpo_term: 静脉畸形
id: HP:0100026
hpo_term: Arteriovenous malformation
chpo_term: 动静脉畸形
id: HP:0011297
hpo_term: Abnormal digit morphology
chpo_term: 手指/脚趾形态异常
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
id: HP:0002814
hpo_term: Abnormality of the lower limb
chpo_term: 下肢异常
id: HP:0002817
hpo_term: Abnormality of the upper limb
chpo_term: 上肢异常
id: HP:0011354
hpo_term: Generalized abnormality of skin
chpo_term: 泛发性皮肤异常
id: HP:0011355
hpo_term: Localized skin lesion
chpo_term: 局限性皮损
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
id: HP:0002629
hpo_term: Gastrointestinal arteriovenous malformation
chpo_term: 胃肠道动静脉畸形
id: HP:0002778
hpo_term: Abnormal tracheal morphology
chpo_term: 气管形态异常
id: HP:0010640
hpo_term: Abnormality of the nasal cavity
chpo_term: 鼻腔异常
id: HP:0012210
hpo_term: Abnormal renal morphology
chpo_term: 肾形态异常
id: HP:0031445
hpo_term: Oral mucosa nodule
chpo_term: 口腔黏膜结节
id: HP:0045026
hpo_term: Abnormality of the mediastinum
chpo_term: 纵膈异常
Disease (ORPHA:83453):
Vulvovaginal gingival syndrome

Associated phenotypes (HPO):
id: HP:0000230
hpo_term: Gingivitis
chpo_term: 牙龈炎
id: HP:0000055
hpo_term: Abnormality of female external genitalia
chpo_term: 女性外生殖器异常
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011118
hpo_term: Abnormality of tumor necrosis factor secretion
chpo_term: 肿瘤坏死因子分泌异常
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0012537
hpo_term: Food intolerance
chpo_term: 食物不耐受
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0100725
hpo_term: Lichenification
chpo_term: 苔藓样变
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0001807
hpo_term: Ridged nail
chpo_term: 甲纵嵴
Disease (ORPHA:83452):
Complex regional pain syndrome

Associated phenotypes (HPO):
id: HP:0009763
hpo_term: Limb pain
chpo_term: 肢体疼痛
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0008383
hpo_term: Slow-growing nails
chpo_term: 甲生长缓慢
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0010742
hpo_term: Edema of the upper limbs
chpo_term: 上肢水肿
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0010834
hpo_term: Trophic changes related to pain
chpo_term: 与疼痛相关的营养改变
id: HP:0012533
hpo_term: Allodynia
chpo_term: 痛觉过敏
id: HP:0012534
hpo_term: Dysesthesia
chpo_term: 感觉障碍
id: HP:0040170
hpo_term: Abnormality of hair growth
chpo_term: 头发生长异常
Disease (ORPHA:83451):
Focal cemento-osseous dysplasia
Florid osseous dysplasia
Florid cemento-osseous dysplasia

Associated phenotypes (HPO):
id: HP:0000277
hpo_term: Abnormal mandible morphology
chpo_term: 下颌骨形态异常
id: HP:0000326
hpo_term: Abnormality of the maxilla
chpo_term: 上颌骨异常
id: HP:0003330
hpo_term: Abnormal bone structure
chpo_term: 骨结构异常
id: HP:0100671
hpo_term: Abnormal trabecular bone morphology
chpo_term: 骨小梁形态异常
id: HP:0100717
hpo_term: Abnormal cementum morphology
chpo_term: 牙骨质形态异常
id: HP:0000309
hpo_term: Abnormal midface morphology
chpo_term: 面中部形态异常
id: HP:0000700
hpo_term: Periapical bone loss
chpo_term: 根尖周的骨质流失
id: HP:0001571
hpo_term: Multiple impacted teeth
chpo_term: 多个阻生齿
id: HP:0430028
hpo_term: Hyperplasia of the maxilla
chpo_term: 上颌骨增生
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0006308
hpo_term: Atrophy of alveolar ridges
chpo_term: 牙槽嵴萎缩
id: HP:0006481
hpo_term: Abnormality of primary teeth
chpo_term: 乳牙异常
id: HP:0006483
hpo_term: Abnormal number of teeth
chpo_term: 牙齿数目异常
id: HP:0007626
hpo_term: Mandibular osteomyelitis
chpo_term: 下颌骨骨髓炎
id: HP:0009088
hpo_term: Speech articulation difficulties
chpo_term: 言语表达困难
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0011069
hpo_term: Supernumerary tooth
chpo_term: 多生牙
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012065
hpo_term: Multiple bony cystic lesions
chpo_term: 多发性骨囊性病变
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0030793
hpo_term: Jaw swelling
chpo_term: 颌部肿胀
id: HP:0031035
hpo_term: Chronic infection
chpo_term: 慢性感染
Disease (ORPHA:83461):
Congenital primary aphakia

Associated phenotypes (HPO):
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0001087
hpo_term: Developmental glaucoma
chpo_term: 发育性青光眼
id: HP:0007707
hpo_term: Congenital aphakia
chpo_term: 先天性无晶状体
id: HP:0008062
hpo_term: Aplasia/Hypoplasia affecting the anterior segment of the eye
chpo_term: 眼前节发育缺陷/不全
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000588
hpo_term: Optic disc coloboma
chpo_term: 视盘缺损
id: HP:0000647
hpo_term: Sclerocornea
chpo_term: 角膜巩膜化
id: HP:0007973
hpo_term: Retinal dysplasia
chpo_term: 视网膜发育不良
id: HP:0011483
hpo_term: Anterior synechiae of the anterior chamber
chpo_term: 前房前粘连
id: HP:0000526
hpo_term: Aniridia
chpo_term: 无虹膜
id: HP:0000667
hpo_term: Phthisis bulbi
chpo_term: 眼萎缩
id: HP:0100583
hpo_term: Corneal perforation
chpo_term: 角膜穿孔
Disease (ORPHA:81):
Anti-aminoacyl-tRNA synthetase syndrome
Anti-ARS syndrome
Anti-Jo1 syndrome
AS syndrome
ASyS
ASS
Antisynthetase syndrome

Associated phenotypes (HPO):
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
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:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0100614
hpo_term: Myositis
chpo_term: 肌炎
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0034143
hpo_term: Anti-threonyl-tRNA synthetase antibody positivity
chpo_term: 抗苏氨酰tRNA合成酶抗体阳性
id: HP:0034145
hpo_term: Anti-alanyl-tRNA synthetase antibody positivity
chpo_term: 抗丙氨酰tRNA合成酶抗体阳性
id: HP:0034146
hpo_term: Anti-glycyl tRNA-synthetase antibody positivity
chpo_term: 抗甘氨酰tRNA合成酶抗体阳性
id: HP:0034147
hpo_term: Anti-aminoacyl-tRNA synthetase antibody positivity
chpo_term: 抗氨酰基tRNA合成酶抗体阳性
id: HP:0034148
hpo_term: Anti-isoleucyl tRNA-synthetase antibody positivity
chpo_term: 抗异亮氨酰tRNA合成酶抗体阳性
id: HP:0034149
hpo_term: Anti-phenylalanyl tRNA synthetase antibody positivity
chpo_term: 抗苯丙氨酰tRNA合成酶抗体阳性
id: HP:0034150
hpo_term: Anti-tyrosyl-tRNA synthetase antibody positivity
chpo_term: 抗酪氨酰tRNA合成酶抗体阳性
id: HP:0034151
hpo_term: Anti-asparaginyl-tRNA synthetase antibody positivity
chpo_term: 抗天冬酰氨酰tRNA合成酶抗体阳性
id: HP:0034152
hpo_term: Anti-histidyl tRNA synthetase antibody positivity
chpo_term: 抗组氨酰tRNA合成酶抗体阳性
id: HP:0034153
hpo_term: Anti-cytosolic-5-nucleotidase-1A antibody positivity
chpo_term: 抗细胞溶质5-核苷酸酶1A抗体阳性
id: HP:0100679
hpo_term: Lack of skin elasticity
chpo_term: 皮肤弹性缺乏
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:6001013
id: HP:6001014
Disease (ORPHA:3242):
Renpenning syndrome
X-linked intellectual disability, Renpenning type
X-linked intellectual disability due to PQBP1 mutations

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000274
hpo_term: Small face
chpo_term: 小脸
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
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:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000912
hpo_term: Sprengel anomaly
chpo_term: 先天性肩胛骨向上移位（Sprengel畸形）
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0045074
hpo_term: Thin eyebrow
chpo_term: 细眉
id: HP:0100830
hpo_term: Round ear
chpo_term: 圆耳
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001172
hpo_term: Abnormal thumb morphology
chpo_term: 拇指形态异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001572
hpo_term: Macrodontia
chpo_term: 巨牙
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0003328
hpo_term: Abnormal hairshaft morphology
chpo_term: 毛干形态异常
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0008499
hpo_term: High hypermetropia
chpo_term: 高度远视
id: HP:0010761
hpo_term: Broad columella
chpo_term: 宽鼻小柱
id: HP:0030853
hpo_term: Heterotaxy
chpo_term: 内脏异位
Disease (ORPHA:95433):
Autosomal recessive spinocerebellar ataxia type 3
SCAR3
Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome
SCABD
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000524
hpo_term: Conjunctival telangiectasia
chpo_term: 结膜毛细血管扩张
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:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0002346
hpo_term: Head tremor
chpo_term: 头部震颤
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002464
hpo_term: Spastic dysarthria
chpo_term: 痉挛性构音障碍
id: HP:0005102
hpo_term: Cochlear degeneration
chpo_term: 耳蜗退行性变
id: HP:0006254
hpo_term: Elevated alpha-fetoprotein
chpo_term: α-甲胎蛋白升高
id: HP:0007126
hpo_term: Proximal amyotrophy
chpo_term: 近端肌萎缩
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0007263
hpo_term: Spinocerebellar atrophy
chpo_term: 脊髓小脑萎缩
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
Disease (ORPHA:82):
Hereditary thrombophilia due to congenital antithrombin deficiency
Hereditary thrombophilia due to congenital antithrombin 3 deficiency

Associated phenotypes (HPO):
id: HP:0001976
hpo_term: Reduced antithrombin III activity
chpo_term: 抗凝血酶 III 活性减低
id: HP:0040246
hpo_term: Reduced antithrombin antigen
chpo_term: 抗凝血酶抗原减少
id: HP:0002204
hpo_term: Pulmonary embolism
chpo_term: 肺栓塞
id: HP:0002625
hpo_term: Deep venous thrombosis
chpo_term: 深静脉血栓形成
id: HP:0002638
hpo_term: Superficial thrombophlebitis
chpo_term: 浅表性血栓性静脉炎
id: HP:0004831
hpo_term: Recurrent thromboembolism
chpo_term: 复发性血栓栓塞
id: HP:0031437
hpo_term: Pregnancy exposure
chpo_term: 妊娠期暴露
id: HP:0004420
hpo_term: Arterial thrombosis
chpo_term: 动脉血栓形成
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0012636
hpo_term: Retinal vein occlusion
chpo_term: 视网膜静脉阻塞
id: HP:0030242
hpo_term: Portal vein thrombosis
chpo_term: 门静脉血栓形成
id: HP:0030243
hpo_term: Hepatic vein thrombosis
chpo_term: 肝静脉血栓形成
id: HP:0030248
hpo_term: Mesenteric venous thrombosis
chpo_term: 肠系膜静脉血栓形成
id: HP:0200067
hpo_term: Recurrent spontaneous abortion
chpo_term: 复发性自然流产
id: HP:0005305
hpo_term: Cerebral venous thrombosis
chpo_term: 脑静脉血栓形成
Disease (ORPHA:3243):
Sweet syndrome
Acute febrile neutrophilic dermatosis

Associated phenotypes (HPO):
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0005550
hpo_term: Chronic lymphatic leukemia
chpo_term: 慢性淋巴细胞白血病
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0030350
hpo_term: Erythematous papule
chpo_term: 红色丘疹
id: HP:0011117
hpo_term: Abnormality of interleukin secretion
chpo_term: 白介素分泌异常
id: HP:0031236
hpo_term: Predominantly dermal neutrophilic infiltrate
chpo_term: 嗜中性粒细胞为主真皮浸润
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000464
hpo_term: Abnormality of the neck
chpo_term: 颈部异常
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0011118
hpo_term: Abnormality of tumor necrosis factor secretion
chpo_term: 肿瘤坏死因子分泌异常
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0011897
hpo_term: Neutrophilia
chpo_term: 中性粒细胞增多症
id: HP:0011944
hpo_term: Small vessel vasculitis
chpo_term: 小血管炎
id: HP:0025616
hpo_term: Sterile abscess
chpo_term: 无菌性脓肿
id: HP:0030783
hpo_term: Increased circulating interleukin 6 concentration
chpo_term: 循环白细胞介素6水平升高
id: HP:0032324
hpo_term: Non-periodic recurrent fever
chpo_term: 非周期性反复发热
id: HP:0100614
hpo_term: Myositis
chpo_term: 肌炎
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0004377
hpo_term: Hematological neoplasm
chpo_term: 血液肿瘤
id: HP:0004808
hpo_term: Acute myeloid leukemia
chpo_term: 急性髓性白血病
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0012490
hpo_term: Panniculitis
chpo_term: 脂膜炎
id: HP:0020169
hpo_term: Abnormal drug response
chpo_term: 药物反应异常
id: HP:0025452
hpo_term: Pyoderma gangrenosum
chpo_term: 坏疽性脓皮病
id: HP:0040154
hpo_term: Acne inversa
chpo_term: 化脓性汗腺炎
id: HP:0040313
hpo_term: Oligoarthritis
chpo_term: 寡关节炎
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
Disease (ORPHA:83):
Antley-Bixler syndrome

Associated phenotypes (HPO):
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0003070
hpo_term: Elbow ankylosis
chpo_term: 肘运动受限
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003275
hpo_term: Narrow pelvis bone
chpo_term: 骨盆狭窄
id: HP:0010669
hpo_term: Hypoplasia of the zygomatic bone
chpo_term: 颧骨发育不良
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0012210
hpo_term: Abnormal renal morphology
chpo_term: 肾形态异常
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
Disease (ORPHA:95430):
Congenital tracheomalacia
Congenital major airway collapse

Associated phenotypes (HPO):
id: HP:0002779
hpo_term: Tracheomalacia
chpo_term: 气管软化
id: HP:0004468
hpo_term: Anomalous tracheal cartilage
chpo_term: 气管软骨异常
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0030828
hpo_term: Wheezing
chpo_term: 哮鸣音
id: HP:0032355
hpo_term: Decreased peak expiratory flow
chpo_term: 呼气峰值流量减少
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001686
hpo_term: Loss of voice
chpo_term: 失声
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002032
hpo_term: Esophageal atresia
chpo_term: 食管闭锁
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0030864
hpo_term: Intercostal retractions
chpo_term: 肋间隙回缩
id: HP:0030966
hpo_term: Abnormal pulmonary artery morphology
chpo_term: 肺动脉形态异常
id: HP:0031245
hpo_term: Productive cough
chpo_term: 痰咳
id: HP:0032177
hpo_term: Parenchymal consolidation
chpo_term: 肺实变
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001750
hpo_term: Single ventricle
chpo_term: 单心室
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002097
hpo_term: Emphysema
chpo_term: 气肿
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0002780
hpo_term: Bronchomalacia
chpo_term: 支气管软化
id: HP:0002786
hpo_term: Tracheobronchomalacia
chpo_term: 气管支气管软化
id: HP:0010773
hpo_term: Partial anomalous pulmonary venous return
chpo_term: 部分肺静脉回流异常
id: HP:0011590
hpo_term: Double aortic arch
chpo_term: 双主动脉弓
id: HP:0012020
hpo_term: Right aortic arch
chpo_term: 右位主动脉弓