TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:576283):
SATB2-associated syndrome due to a point mutation
SATB2-associated syndrome due to a pathogenic variant

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
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:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
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:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0040082
hpo_term: Happy demeanor
chpo_term: 快乐举止
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002608
hpo_term: Celiac disease
chpo_term: 乳糜泻
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0011147
hpo_term: Typical absence seizure
chpo_term: 典型的失神发作
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
id: HP:0100886
hpo_term: Abnormality of globe location
chpo_term: 眼球位置异常
Disease (ORPHA:100086):
Gallbladder neuroendocrine tumor

Associated phenotypes (HPO):
id: HP:0100574
hpo_term: Biliary tract neoplasm
chpo_term: 胆管新生物
id: HP:0100634
hpo_term: Neuroendocrine neoplasm
chpo_term: 神经内分泌肿瘤
id: HP:0001046
hpo_term: Intermittent jaundice
chpo_term: 间歇性黄疸
id: HP:0001082
hpo_term: Cholecystitis
chpo_term: 胆囊炎
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
id: HP:0002730
hpo_term: Chronic noninfectious lymphadenopathy
chpo_term: 慢性非感染性淋巴结肿大
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0005230
hpo_term: Biliary tract obstruction
chpo_term: 胆道梗阻
id: HP:0010638
hpo_term: Elevated alkaline phosphatase of hepatic origin
chpo_term: 肝源性碱性磷酸酶升高
id: HP:0012334
hpo_term: Extrahepatic cholestasis
chpo_term: 肝外胆汁淤积
id: HP:0012432
hpo_term: Chronic fatigue
chpo_term: 慢性疲劳
id: HP:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0004375
hpo_term: Neoplasm of the nervous system
chpo_term: 神经系统的肿瘤
id: HP:0012658
hpo_term: Abnormal brain FDG positron emission tomography
chpo_term: 脑FDG正电子发射断层扫描异常
Disease (ORPHA:496689):
Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
Kyphoscoliosis-lateral tongue atrophy-HSP syndrome

Associated phenotypes (HPO):
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003698
hpo_term: Difficulty standing
chpo_term: 站立困难
id: HP:0007020
hpo_term: Progressive spastic paraplegia
chpo_term: 进行性痉挛性截瘫
id: HP:0007210
hpo_term: Lower limb amyotrophy
chpo_term: 下肢肌萎缩
id: HP:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0009129
hpo_term: Upper limb amyotrophy
chpo_term: 上肢肌萎缩
id: HP:0012473
hpo_term: Tongue atrophy
chpo_term: 舌萎缩
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0040081
hpo_term: Abnormal circulating creatine kinase concentration
chpo_term: 血液肌酸激酶水平异常
Disease (ORPHA:454840):
NTHL1-related attenuated familial adenomatous polyposis
NTHL1-related polyposis
NTHL1-related attenuated FAP
NTHL1-related AFAP

Associated phenotypes (HPO):
id: HP:0005227
hpo_term: Adenomatous colonic polyposis
chpo_term: 腺瘤性结肠息肉病
id: HP:0002858
hpo_term: Meningioma
chpo_term: 脑膜瘤
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0003003
hpo_term: Colon cancer
chpo_term: 结肠癌
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0009725
hpo_term: Bladder neoplasm
chpo_term: 膀胱肿瘤
id: HP:0012114
hpo_term: Endometrial carcinoma
chpo_term: 子宫内膜癌
id: HP:0100743
hpo_term: Neoplasm of the rectum
chpo_term: 直肠肿瘤
id: HP:0000138
hpo_term: Ovarian cyst
chpo_term: 卵巢囊肿
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0006725
hpo_term: Pancreatic adenocarcinoma
chpo_term: 胰腺腺癌
id: HP:0006771
hpo_term: Duodenal adenocarcinoma
chpo_term: 十二指肠腺癌
id: HP:0012539
hpo_term: Non-Hodgkin lymphoma
chpo_term: 非霍奇金淋巴瘤
id: HP:0031287
hpo_term: Seborrheic keratosis
chpo_term: 脂溢性角化病
Disease (ORPHA:453510):
Congenital insensitivity to pain with severe intellectual disability
Congenital insensitivity to pain with severe non-progressive cognitive delay
Congenital analgesia with severe intellectual disability
Congenital absence of pain with severe intellectual disability
Congenital insensitivity to pain with preserved temperature sensation

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
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:0007021
hpo_term: Pain insensitivity
chpo_term: 疼痛不敏感
id: HP:0008000
hpo_term: Decreased corneal reflex
chpo_term: 角膜反射减退
id: HP:0010830
hpo_term: Impaired tactile sensation
chpo_term: 触觉障碍
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001772
hpo_term: Talipes equinovalgus
chpo_term: 马蹄外翻足
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0008780
hpo_term: Congenital bilateral hip dislocation
chpo_term: 先天性双侧髋关节脱位
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0010841
hpo_term: Multifocal epileptiform discharges
chpo_term: 多灶性痫样放电
id: HP:0011470
hpo_term: Nasogastric tube feeding in infancy
chpo_term: 婴儿期鼻胃管饲
id: HP:0012044
hpo_term: Seesaw nystagmus
chpo_term: 跷跷板样眼球震颤
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0200020
hpo_term: Corneal erosion
chpo_term: 角膜糜烂
Disease (ORPHA:169805):
Moderate congenital F8 deficiency
Moderate hemophilia A
Moderate congenital factor VIII deficiency

Associated phenotypes (HPO):
id: HP:0030746
hpo_term: Intraventricular hemorrhage
chpo_term: 脑室内出血
id: HP:0100310
hpo_term: Epidural hemorrhage
chpo_term: 硬膜外出血
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0003125
hpo_term: Reduced factor VIII activity
chpo_term: 凝血因子VIII活性减低
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0001933
hpo_term: Subcutaneous hemorrhage
chpo_term: 皮下出血
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0005261
hpo_term: Joint hemorrhage
chpo_term: 关节出血
id: HP:0011889
hpo_term: Bleeding with minor or no trauma
chpo_term: 轻微或无创伤出血
id: HP:0012233
hpo_term: Intramuscular hematoma
chpo_term: 肌内血肿
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0003040
hpo_term: Arthropathy
chpo_term: 关节病
id: HP:0004846
hpo_term: Prolonged bleeding after surgery
chpo_term: 手术后出血时间延长
id: HP:0006298
hpo_term: Prolonged bleeding after dental extraction
chpo_term: 拔牙后出血时间延长
id: HP:0100309
hpo_term: Subdural hemorrhage
chpo_term: 硬膜下出血
id: HP:0100769
hpo_term: Synovitis
chpo_term: 滑膜炎
id: HP:0100773
hpo_term: Cartilage destruction
chpo_term: 软骨破坏
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0007420
hpo_term: Spontaneous hematomas
chpo_term: 自发性血肿
Disease (ORPHA:69745):
Follicular dyskeratoma
Warty dyskeratoma

Associated phenotypes (HPO):
id: HP:0011355
hpo_term: Localized skin lesion
chpo_term: 局限性皮损
id: HP:0011368
hpo_term: Epidermal thickening
chpo_term: 表皮增厚
id: HP:0031285
hpo_term: Abnormal perifollicular morphology
chpo_term: 毛囊周围形态异常
id: HP:0100792
hpo_term: Acantholysis
chpo_term: 皮肤棘层松解
id: HP:0000464
hpo_term: Abnormality of the neck
chpo_term: 颈部异常
id: HP:0001965
hpo_term: Abnormal scalp morphology
chpo_term: 头皮形态异常
id: HP:0025103
hpo_term: Umbilicated nodule
chpo_term: 脐状结界
id: HP:0025512
hpo_term: Skin-colored papule
chpo_term: 肤色丘疹
id: HP:0030350
hpo_term: Erythematous papule
chpo_term: 红色丘疹
id: HP:0200016
hpo_term: Acrokeratosis
chpo_term: 肢端角化症
id: HP:0031445
hpo_term: Oral mucosa nodule
chpo_term: 口腔黏膜结节
id: HP:0410340
hpo_term: Focal epithelial hyperplasia of oral mucosa
chpo_term: 口腔粘膜局灶性上皮增生
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0006477
hpo_term: Abnormality of the alveolar ridges
chpo_term: 牙槽嵴异常
id: HP:0012881
hpo_term: Abnormal labia majora morphology
chpo_term: 大阴唇形态异常
id: HP:0030416
hpo_term: Vulvar neoplasm
chpo_term: 外阴肿瘤
id: HP:0100648
hpo_term: Neoplasm of the tongue
chpo_term: 舌瘤
id: HP:0100737
hpo_term: Abnormal hard palate morphology
chpo_term: 硬腭形态异常
Disease (ORPHA:439218):
KCNQ2-NEE
KCNQ2-related epileptic encephalopathy
KCNQ2-related neonatal epileptic encephalopathy
KCNQ2-related developmental and epileptic encephalopathy

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:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0010818
hpo_term: Generalized tonic seizure
chpo_term: 全面性强直发作
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001041
hpo_term: Facial erythema
chpo_term: 面部红斑
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002181
hpo_term: Cerebral edema
chpo_term: 脑水肿
id: HP:0002453
hpo_term: Abnormal globus pallidus morphology
chpo_term: 苍白球形态异常
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0007015
hpo_term: Poor gross motor coordination
chpo_term: 粗大运动协调差
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012736
hpo_term: Profound global developmental delay
chpo_term: 严重的全脑发育迟缓
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
Disease (ORPHA:465508):
Symptomatic form of HFE-related hemochromatosis
Symptomatic form of hemochromatosis type 1
Symptomatic form of classic hemochromatosis

Associated phenotypes (HPO):
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0011031
hpo_term: Abnormality of iron homeostasis
chpo_term: 铁紊乱
id: HP:0012463
hpo_term: Elevated transferrin saturation
chpo_term: 转铁蛋白饱和度升高
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003040
hpo_term: Arthropathy
chpo_term: 关节病
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0007574
hpo_term: Generalized bronze hyperpigmentation
chpo_term: 弥漫性青铜色色素沉着
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000029
hpo_term: Testicular atrophy
chpo_term: 睾丸萎缩
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:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
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:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0005198
hpo_term: Stiff interphalangeal joints
chpo_term: 指关节僵硬
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0011911
hpo_term: Abnormal metacarpophalangeal joint morphology
chpo_term: 掌指关节形态异常
id: HP:0030848
hpo_term: Elevated jugular venous pressure
chpo_term: 颈静脉压升高
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0046504
hpo_term: Decreased libido
chpo_term: 性欲减退
id: HP:0100626
hpo_term: Chronic hepatic failure
chpo_term: 慢性肝功能衰竭
id: HP:0100639
hpo_term: Erectile dysfunction
chpo_term: 勃起功能障碍
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0030153
hpo_term: Cholangiocarcinoma
chpo_term: 胆管癌
Disease (ORPHA:90349):
Autosomal recessive cutis laxa with severe systemic involvement
Autosomal recessive cutis laxa type 1
ARCL1
Autosomal recessive cutis laxa, pulmonary emphysema type

Associated phenotypes (HPO):
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0002097
hpo_term: Emphysema
chpo_term: 气肿
id: HP:0010750
hpo_term: Dermatochalasis
chpo_term: 眼皮松弛
id: HP:0025167
hpo_term: Fragmented elastic fibers in the dermis
chpo_term: 真皮弹性纤维碎裂
id: HP:0100679
hpo_term: Lack of skin elasticity
chpo_term: 皮肤弹性缺乏
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
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:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0004426
hpo_term: Abnormal cheek morphology
chpo_term: 面颊形态异常
id: HP:0004969
hpo_term: Peripheral pulmonary artery stenosis
chpo_term: 周围肺动脉狭窄
id: HP:0011004
hpo_term: Abnormal systemic arterial morphology
chpo_term: 全身动脉形态异常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0032153
hpo_term: Joint subluxation
chpo_term: 关节半脱位
id: HP:0045027
hpo_term: Abnormality of the thoracic cavity
chpo_term: 胸廓异常
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0002256
hpo_term: Small bowel diverticula
chpo_term: 小肠憩室
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0004381
hpo_term: Supravalvular aortic stenosis
chpo_term: 主动脉瓣上狭窄
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0006698
hpo_term: Dilatation of the ventricular cavity
chpo_term: 心室腔扩张
id: HP:0008722
hpo_term: Urethral diverticulum
chpo_term: 尿道憩室
id: HP:0012330
hpo_term: Pyelonephritis
chpo_term: 肾盂肾炎
id: HP:0012619
hpo_term: Multiple bladder diverticula
chpo_term: 多发性膀胱憩室症
id: HP:0030872
hpo_term: Abnormal cardiac ventricular function
chpo_term: 心室功能异常
Disease (ORPHA:169802):
Severe congenital factor VIII deficiency
Severe congenital F8 deficiency
Severe hemophilia A

Associated phenotypes (HPO):
id: HP:0003125
hpo_term: Reduced factor VIII activity
chpo_term: 凝血因子VIII活性减低
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001058
hpo_term: Poor wound healing
chpo_term: 伤口愈合不良
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0001934
hpo_term: Persistent bleeding after trauma
chpo_term: 创伤后持续性出血
id: HP:0004846
hpo_term: Prolonged bleeding after surgery
chpo_term: 手术后出血时间延长
id: HP:0005261
hpo_term: Joint hemorrhage
chpo_term: 关节出血
id: HP:0030140
hpo_term: Oral cavity bleeding
chpo_term: 口腔出血
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003121
hpo_term: Limb joint contracture
chpo_term: 肢体关节挛缩
id: HP:0005187
hpo_term: Progressive joint destruction
chpo_term: 关节渐进性受损
id: HP:0008330
hpo_term: Reduced von Willebrand factor activity
chpo_term: 血管性血友病因子活性减低
id: HP:0012233
hpo_term: Intramuscular hematoma
chpo_term: 肌内血肿
id: HP:0012541
hpo_term: Cephalohematoma
chpo_term: 胎头血肿
id: HP:0012587
hpo_term: Macroscopic hematuria
chpo_term: 肉眼血尿
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:0100309
hpo_term: Subdural hemorrhage
chpo_term: 硬膜下出血
id: HP:0100310
hpo_term: Epidural hemorrhage
chpo_term: 硬膜外出血
id: HP:0100769
hpo_term: Synovitis
chpo_term: 滑膜炎
Disease (ORPHA:294415):
Ivemark II syndrome
Renal-hepatic-pancreatic dysplasia
Renohepaticopancreatic dysplasia

Associated phenotypes (HPO):
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0005232
hpo_term: Pancreatic dysplasia
chpo_term: 胰腺发育不良
id: HP:0006566
hpo_term: Neonatal cholestatic liver disease
chpo_term: 新生儿胆汁淤积性肝病
id: HP:0030146
hpo_term: Abnormal liver parenchyma morphology
chpo_term: 肝实质形态异常
id: HP:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0030992
hpo_term: Abnormal pancreatic duct morphology
chpo_term: 胰管形态学异常
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0100732
hpo_term: Pancreatic fibrosis
chpo_term: 胰腺纤维化
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001407
hpo_term: Hepatic cysts
chpo_term: 肝囊肿
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001737
hpo_term: Pancreatic cysts
chpo_term: 胰腺囊肿
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001746
hpo_term: Asplenia
chpo_term: 无脾
id: HP:0001790
hpo_term: Nonimmune hydrops fetalis
chpo_term: 非免疫性胎儿水肿
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004890
hpo_term: Elevated pulmonary artery pressure
chpo_term: 肺动脉压升高
id: HP:0033478
hpo_term: Increased circulating lipoprotein lipase concentration
chpo_term: 循环脂蛋白脂肪酶浓度升高
id: HP:0410288
hpo_term: Hyperamylasemia
chpo_term: 高淀粉酶血症