TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:562639):
Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
PBC/PSC and AIH overlap syndrome
Overlap syndromes of autoimmune liver diseases

Associated phenotypes (HPO):
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0032220
hpo_term: Interface hepatitis
chpo_term: 界面性肝炎
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003237
hpo_term: Increased circulating IgG level
chpo_term: 循环IgG水平升高
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0011040
hpo_term: Abnormal intrahepatic bile duct morphology
chpo_term: 肝内胆管形态异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0033562
hpo_term: Anti-glycoprotein-210 antibody positivity
chpo_term: 抗糖蛋白-210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:0034107
hpo_term: Anti-p53 antibody positivity
chpo_term: 抗p53抗体阳性
id: HP:0034108
hpo_term: Anti-Y-box protein-1 antibody positivity
chpo_term: 抗Y盒蛋白1抗体阳性
id: HP:0034110
hpo_term: Anti-Gerbich phenotype 1 antibody positivity
chpo_term: 抗Gerbich表型1抗体阳性
id: HP:0034111
hpo_term: Anti-MIT3 antibody positivity
chpo_term: 抗MIT3抗体阳性
id: HP:0034114
hpo_term: Anti-hexokinase-1 antibody positivity
chpo_term: 抗己糖激酶1抗体阳性
id: HP:0034115
hpo_term: Anti-Kelch like protein 12 antibody positivity
chpo_term: 抗Kelch样蛋白12抗体阳性
id: HP:0034155
hpo_term: Anti-sp100 antibody positivity
chpo_term: 抗sp100抗体阳性
id: HP:0100889
hpo_term: Abnormality of the ductus choledochus
chpo_term: 胆总管异常
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0002611
hpo_term: Cholestatic liver disease
chpo_term: 胆汁淤积性肝病
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0003262
hpo_term: Smooth muscle antibody positivity
chpo_term: 平滑肌抗体阳性
id: HP:0003496
hpo_term: Increased circulating IgM level
chpo_term: 循环IgM水平升高
id: HP:0025344
hpo_term: Interlobular bile duct destruction
chpo_term: 小叶间胆道破坏
id: HP:0030167
hpo_term: Antimitochondrial antibody positivity
chpo_term: 线粒体抗体阳性
id: HP:0030909
hpo_term: Anti-liver cytosolic antigen type 1 antibody positivity
chpo_term: 抗肝细胞胞浆抗原1型抗体阳性
id: HP:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0030988
hpo_term: Granulomatous cholangitis
chpo_term: 肉芽肿性胆管炎
id: HP:0030991
hpo_term: Sclerosing cholangitis
chpo_term: 硬化性胆管炎
id: HP:0032252
hpo_term: Granuloma
chpo_term: 肉芽肿
id: HP:0100279
hpo_term: Ulcerative colitis
chpo_term: 溃疡性结肠炎
id: HP:0030908
hpo_term: Liver kidney microsome type 1 antibody positivity
chpo_term: 肝肾微粒体1型抗体阳性
Disease (ORPHA:93262):
Crouzon syndrome-acanthosis nigricans syndrome
Crouzon-dermoskeletal syndrome

Associated phenotypes (HPO):
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0100533
hpo_term: Inflammatory abnormality of the eye
chpo_term: 眼睛的炎性异常
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0005107
hpo_term: Abnormal sacrum morphology
chpo_term: 骶骨形态异常
Disease (ORPHA:93260):
Pfeiffer syndrome type 3

Associated phenotypes (HPO):
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000244
hpo_term: Brachyturricephaly
chpo_term: 短尖头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
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:0000646
hpo_term: Amblyopia
chpo_term: 弱视
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:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0002410
hpo_term: Aqueductal stenosis
chpo_term: 中脑导水管狭窄
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0002779
hpo_term: Tracheomalacia
chpo_term: 气管软化
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0008080
hpo_term: Hallux varus
chpo_term: 拇趾内翻
id: HP:0010059
hpo_term: Broad hallux phalanx
chpo_term: 拇趾骨变宽
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
Disease (ORPHA:2394):
E3-deficient maple syrup urine disease
Pyruvate dehydrogenase E3 deficiency
DLD deficiency
Dihydrolipoamide dehydrogenase deficiency

Associated phenotypes (HPO):
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002480
hpo_term: Hepatic encephalopathy
chpo_term: 肝性脑病
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0008344
hpo_term: Elevated plasma branched chain amino acids
chpo_term: 血浆支链氨基酸水平升高
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012402
hpo_term: Increased urine alpha-ketoglutarate concentration
chpo_term: 尿α-酮戊二酸浓度增高
id: HP:0100724
hpo_term: Hypercoagulability
chpo_term: 高凝状态
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0003234
hpo_term: Decreased plasma carnitine
chpo_term: 血浆肉碱降低
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0010913
hpo_term: Hyperisoleucinemia
chpo_term: 高异亮氨酸血症
id: HP:0030872
hpo_term: Abnormal cardiac ventricular function
chpo_term: 心室功能异常
Disease (ORPHA:1063):
Tufted angioma
Nakagawa angioblastoma

Associated phenotypes (HPO):
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0011355
hpo_term: Localized skin lesion
chpo_term: 局限性皮损
id: HP:0000329
hpo_term: Facial hemangioma
chpo_term: 面部血管瘤
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0005548
hpo_term: Megakaryocytopenia
chpo_term: 巨核细胞减少症
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0010990
hpo_term: Abnormality of the common coagulation pathway
chpo_term: 共同凝血途径异常
id: HP:0011900
hpo_term: Hypofibrinogenemia
chpo_term: 低纤维蛋白原血症
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0031490
hpo_term: Hemangioma of the lip
chpo_term: 唇部血管瘤
Disease (ORPHA:1062):
Hereditary neurocutaneous malformation

Associated phenotypes (HPO):
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002277
hpo_term: Horner syndrome
chpo_term: 霍纳综合征
Disease (ORPHA:1069):
Aniridia-absent patella syndrome

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000526
hpo_term: Aniridia
chpo_term: 无虹膜
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0006498
hpo_term: Aplasia/Hypoplasia of the patella
chpo_term: 髌骨发育不良/发育不全
Disease (ORPHA:1068):
Walker-Dyson syndrome
Aniridia-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000526
hpo_term: Aniridia
chpo_term: 无虹膜
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
Disease (ORPHA:2399):
Nasopalpebral lipoma-coloboma syndrome

Associated phenotypes (HPO):
id: HP:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0007820
hpo_term: Lacrimal punctal atresia
chpo_term: 泪点闭锁
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0001012
hpo_term: Multiple lipomas
chpo_term: 多发性脂肪瘤
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000349
hpo_term: Widow's peak
chpo_term: 美人尖
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000437
hpo_term: Depressed nasal tip
chpo_term: 鼻尖凹陷
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0008850
hpo_term: Severe postnatal growth retardation
chpo_term: 严重的产后生长发育迟缓
id: HP:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:0030670
hpo_term: Hamartoma of the orbital region
chpo_term: 眶区错构瘤
id: HP:0030953
hpo_term: Conjunctival hyperemia
chpo_term: 结膜充血
id: HP:0031111
hpo_term: Cutaneous hamartoma
chpo_term: 皮肤的错构瘤
id: HP:0040164
hpo_term: Lipomas of eyelids
chpo_term: 眼睑脂肪瘤
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0007633
hpo_term: Bilateral microphthalmos
chpo_term: 双侧小眼畸形
id: HP:3000022
hpo_term: Abnormality of cartilage of external ear
chpo_term: 外耳软骨异常
id: HP:0002011
hpo_term: Morphological central nervous system abnormality
chpo_term: 中枢神经系统的形态异常
Disease (ORPHA:2398):
Familial benign cervical lipomatosis
Launois-Bensaude lipomatosis
Madelung disease
Multiple symmetric lipomatosis
Cephalothoracic lipodystrophy

Associated phenotypes (HPO):
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0001012
hpo_term: Multiple lipomas
chpo_term: 多发性脂肪瘤
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0009124
hpo_term: Abnormal adipose tissue morphology
chpo_term: 脂肪组织形态异常
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
Disease (ORPHA:1067):
Aniridia-ptosis-intellectual disability-familial obesity syndrome

Associated phenotypes (HPO):
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0008053
hpo_term: Aplasia/Hypoplasia of the iris
chpo_term: 虹膜发育缺陷/不全
id: HP:0009917
hpo_term: Persistent pupillary membrane
chpo_term: 瞳孔膜存留
Disease (ORPHA:281090):
Recessive X-linked ichthyosis with extracutaneous manifestations
Syndromic RXLI
Syndromic recessive X-linked ichthyosis

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:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0002488
hpo_term: Acute leukemia
chpo_term: 急性白血病
id: HP:0002577
hpo_term: Abnormal stomach morphology
chpo_term: 胃形态异常
id: HP:0004298
hpo_term: Abnormality of the abdominal wall
chpo_term: 腹壁异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0010866
hpo_term: Abdominal wall defect
chpo_term: 腹壁缺损
id: HP:0100617
hpo_term: Testicular seminoma
chpo_term: 睾丸精原细胞瘤
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
Disease (ORPHA:849):
Glanzmann thrombasthenia

Associated phenotypes (HPO):
id: HP:0003010
hpo_term: Prolonged bleeding time
chpo_term: 出血时间延长
id: HP:0004406
hpo_term: Spontaneous, recurrent epistaxis
chpo_term: 复发性自发鼻衄
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0004846
hpo_term: Prolonged bleeding after surgery
chpo_term: 手术后出血时间延长
id: HP:0030137
hpo_term: Prolonged bleeding following circumcision
chpo_term: 包皮环切术后出血时间延长
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0007420
hpo_term: Spontaneous hematomas
chpo_term: 自发性血肿
id: HP:0012587
hpo_term: Macroscopic hematuria
chpo_term: 肉眼血尿
id: HP:0031364
hpo_term: Ecchymosis
chpo_term: 瘀斑
id: HP:0400008
hpo_term: Menometrorrhagia
chpo_term: 月经过多
id: HP:0011871
hpo_term: Impaired ristocetin-induced platelet aggregation
chpo_term: 瑞斯托菌素诱导的血小板聚集受损
id: HP:0004866
hpo_term: Impaired ADP-induced platelet aggregation
chpo_term: ADP诱导的血小板聚集障碍
id: HP:0008148
hpo_term: Impaired epinephrine-induced platelet aggregation
chpo_term: 肾上腺素诱导的血小板聚集障碍
id: HP:0011870
hpo_term: Impaired arachidonic acid-induced platelet aggregation
chpo_term: 花生四烯酸诱导的血小板聚集受损
id: HP:0011872
hpo_term: Impaired thrombin-induced platelet aggregation
chpo_term: 凝血酶诱导的血小板聚集障碍
id: HP:0011894
hpo_term: Impaired thromboxane A2 agonist-induced platelet aggregation
chpo_term: 血栓素A2激动剂诱导的血小板聚集受损
id: HP:0031128
hpo_term: Impaired collagen-related peptide-induced platelet aggregation
chpo_term: 胶原相关肽诱导的血小板凝集受损
Disease (ORPHA:1065):
Aniridia-cerebellar ataxia-intellectual disability syndrome
Gillespie syndrome

Associated phenotypes (HPO):
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0000364
hpo_term: Hearing abnormality
chpo_term: 听力异常
id: HP:0000526
hpo_term: Aniridia
chpo_term: 无虹膜
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002168
hpo_term: Scanning speech
chpo_term: 断续言语
id: HP:0004414
hpo_term: Abnormality of the pulmonary artery
chpo_term: 肺动脉异常
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:1064):
Aniridia-renal agenesis-psychomotor retardation syndrome
Sommer-Rathbun-Battles syndrome

Associated phenotypes (HPO):
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000526
hpo_term: Aniridia
chpo_term: 无虹膜
id: HP:0001087
hpo_term: Developmental glaucoma
chpo_term: 发育性青光眼
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001334
hpo_term: Communicating hydrocephalus
chpo_term: 交通性脑积水
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
Disease (ORPHA:846):
Alpha-thalassemia

Associated phenotypes (HPO):
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
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:0001971
hpo_term: Hypersplenism
chpo_term: 脾功能亢进
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0004823
hpo_term: Anisopoikilocytosis
chpo_term: 异形红细胞增多症
id: HP:0005507
hpo_term: Hemoglobin Barts
chpo_term: Barts 血红蛋白
id: HP:0010620
hpo_term: Malar prominence
chpo_term: 颧骨突出
id: HP:0010978
hpo_term: Abnormality of immune system physiology
chpo_term: 免疫系统功能异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0430028
hpo_term: Hyperplasia of the maxilla
chpo_term: 上颌骨增生
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0011902
hpo_term: Abnormal hemoglobin
chpo_term: 血红蛋白异常
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0001978
hpo_term: Extramedullary hematopoiesis
chpo_term: 髓外造血
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0007430
hpo_term: Generalized edema
chpo_term: 广泛水肿
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
Disease (ORPHA:848):
Beta-thalassemia

Associated phenotypes (HPO):
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0011902
hpo_term: Abnormal hemoglobin
chpo_term: 血红蛋白异常
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
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:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0004370
hpo_term: Abnormality of temperature regulation
chpo_term: 体温调节异常
id: HP:0011031
hpo_term: Abnormality of iron homeostasis
chpo_term: 铁紊乱
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:93258):
Pfeiffer syndrome type 1
Classic Pfeiffer syndrome

Associated phenotypes (HPO):
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002410
hpo_term: Aqueductal stenosis
chpo_term: 中脑导水管狭窄
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0008080
hpo_term: Hallux varus
chpo_term: 拇趾内翻
id: HP:0009601
hpo_term: Aplasia/Hypoplasia of the thumb
chpo_term: 拇指发育不全或发育不良
id: HP:0010059
hpo_term: Broad hallux phalanx
chpo_term: 拇趾骨变宽
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0011318
hpo_term: Bicoronal synostosis
chpo_term: 双侧冠状缝闭合
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
Disease (ORPHA:841):
Sebocystomatosis
Steatocystoma multiplex

Associated phenotypes (HPO):
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0009720
hpo_term: Adenoma sebaceum
chpo_term: 皮脂腺腺瘤
id: HP:0012035
hpo_term: Steatocystoma multiplex
chpo_term: 多发性皮脂腺囊瘤