TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:86820):
Familial osteonecrosis of the femoral head
Familial avascular necrosis of femoral head

Associated phenotypes (HPO):
id: HP:0003366
hpo_term: Abnormal femoral neck/head morphology
chpo_term: 股骨颈/头形态异常
id: HP:0031520
hpo_term: Groin pain
chpo_term: 腹股沟痛
id: HP:0007311
hpo_term: Short stepped shuffling gait
chpo_term: 小碎步步态
id: HP:0008800
hpo_term: Limited hip movement
chpo_term: 髋部运动受限
id: HP:0008812
hpo_term: Flattened femoral head
chpo_term: 股骨头扁平
id: HP:0008843
hpo_term: Hip osteoarthritis
chpo_term: 髋关节骨关节炎
id: HP:0030838
hpo_term: Hip pain
chpo_term: 髋痛
id: HP:0031058
hpo_term: Impairment of activities of daily living
chpo_term: 日常生活活动障碍
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
Disease (ORPHA:98808):
Autosomal dominant Segawa syndrome
GTPCH1-deficient dopa-responsive dystonia
DYT5a
Hereditary progressive dystonia with marked diurnal fluctuation
Autosomal dominant dopa-responsive dystonia
GTPCH1-deficient DRD
HPD with marked diurnal fluctuation

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0003785
hpo_term: Decreased CSF homovanillic acid concentration
chpo_term: 脑脊液高香草酸水平降低
id: HP:0004373
hpo_term: Focal dystonia
chpo_term: 局限性肌张力障碍
id: HP:0008297
hpo_term: Transient hyperphenylalaninemia
chpo_term: 短暂性高苯丙氨酸血症
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0045007
hpo_term: Abnormal substantia nigra morphology
chpo_term: 黑质形态异常
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001370
hpo_term: Rheumatoid arthritis
chpo_term: 类风湿关节炎
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0002601
hpo_term: Paresis of extensor muscles of the big toe
chpo_term: 拇趾伸肌麻痹
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0005876
hpo_term: Progressive flexion contractures
chpo_term: 进行性屈曲挛缩
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (ORPHA:1323):
Rozin camptodactyly syndrome
Camptodactyly-joint contractures-facial skeletal defects syndrome

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
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:0000348
hpo_term: High forehead
chpo_term: 额头高
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:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002683
hpo_term: Abnormal calvaria morphology
chpo_term: 颅骨形态异常
id: HP:0003272
hpo_term: Abnormal hip bone morphology
chpo_term: 髋骨形态异常
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004422
hpo_term: Biparietal narrowing
chpo_term: 双侧顶骨部收窄
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100555
hpo_term: Asymmetric growth
chpo_term: 不对称生长
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
Disease (ORPHA:98809):
Paroxysmal kinesigenic dyskinesia
Familial paroxysmal kinesigenic dyskinesia
Familial PKD
Paroxysmal kinesigenic choreathetosis

Associated phenotypes (HPO):
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0011157
hpo_term: Focal sensory seizure
chpo_term: 局灶性感觉性发作
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002356
hpo_term: Writer's cramp
chpo_term: 书写痉挛
Disease (ORPHA:1320):
Idiopathic progressive lumbar kyphosis
Idiopathic camptocormism
Idiopathic camptocormia

Associated phenotypes (HPO):
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0003445
hpo_term: EMG: neuropathic changes
chpo_term: 肌电图：神经源性变化
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0005108
hpo_term: Abnormal intervertebral disk morphology
chpo_term: 椎间盘形态异常
id: HP:0100285
hpo_term: EMG: impaired neuromuscular transmission
chpo_term: 肌电图:神经肌肉接头传递受损
id: HP:0000234
hpo_term: Abnormality of the head
chpo_term: 头部异常
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003444
hpo_term: EMG: chronic denervation signs
chpo_term: 肌电图:慢性失神经支配的征象
id: HP:0006959
hpo_term: Proximal spinal muscular atrophy
chpo_term: 近端脊肌萎缩
id: HP:0007354
hpo_term: Amyotrophic lateral sclerosis
chpo_term: 肌萎缩侧索硬化
id: HP:0012647
hpo_term: Abnormal inflammatory response
chpo_term: 异常炎性反应
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0002134
hpo_term: Abnormal basal ganglia morphology
chpo_term: 基底节形态异常
id: HP:0002145
hpo_term: Frontotemporal dementia
chpo_term: 额颞叶痴呆
id: HP:0002486
hpo_term: Myotonia
chpo_term: 肌强直
id: HP:0002511
hpo_term: Alzheimer disease
chpo_term: 阿尔茨海默病
id: HP:0002715
hpo_term: Abnormality of the immune system
chpo_term: 免疫系统异常
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0003398
hpo_term: Abnormal synaptic transmission at the neuromuscular junction
chpo_term: 神经肌肉接头异常
id: HP:0003416
hpo_term: Spinal canal stenosis
chpo_term: 椎管狭窄
id: HP:0003737
hpo_term: Mitochondrial myopathy
chpo_term: 线粒体肌病
id: HP:0007361
hpo_term: Abnormal pons morphology
chpo_term: 桥脑形态异常
id: HP:0012486
hpo_term: Myelitis
chpo_term: 脊髓炎
id: HP:0012548
hpo_term: Fatty replacement of skeletal muscle
chpo_term: 骨骼肌脂肪浸润
id: HP:0030113
hpo_term: Abnormal muscle fiber dysferlin
chpo_term: 肌肉纤维铁蛋白异常
id: HP:0030197
hpo_term: Fatigable weakness of skeletal muscles
chpo_term: 骨骼肌疲劳性无力
id: HP:0100315
hpo_term: Lewy bodies
chpo_term: 路易体
id: HP:0100614
hpo_term: Myositis
chpo_term: 肌炎
Disease (ORPHA:98805):
Primary dystonia, DYT4 type
Hereditary whispering dysphonia
DYT4

Associated phenotypes (HPO):
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0012049
hpo_term: Laryngeal dystonia
chpo_term: 喉肌张力障碍
id: HP:0000182
hpo_term: Movement abnormality of the tongue
chpo_term: 舌头运动异常
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003782
hpo_term: Eunuchoid habitus
chpo_term: 类无睾者习性
id: HP:0009938
hpo_term: Sunken cheeks
chpo_term: 脸颊凹陷
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0007351
hpo_term: Upper limb postural tremor
chpo_term: 上肢姿势性震颤
Disease (ORPHA:98806):
Generalized cervical and upper-limb-onset dystonia
DYT6
Primary dystonia, DYT6 type
Idiopathic torsion dystonia of mixed type

Associated phenotypes (HPO):
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
id: HP:0012049
hpo_term: Laryngeal dystonia
chpo_term: 喉肌张力障碍
id: HP:0012179
hpo_term: Craniofacial dystonia
chpo_term: 头面部肌张力障碍
id: HP:0031008
hpo_term: Lingual dystonia
chpo_term: 舌肌肌张力障碍
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
Disease (ORPHA:98807):
Primary torsion dystonia with predominant craniocervical or upper limb onset
Primary dystonia with mixed phenotype
Primary dystonia, DYT13 type
DYT13

Associated phenotypes (HPO):
id: HP:0004373
hpo_term: Focal dystonia
chpo_term: 局限性肌张力障碍
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0001304
hpo_term: Torsion dystonia
chpo_term: 扭转性肌张力障碍
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0006961
hpo_term: Jerky head movements
chpo_term: 抽动样头部运动
id: HP:0012179
hpo_term: Craniofacial dystonia
chpo_term: 头面部肌张力障碍
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
Disease (ORPHA:70475):
Radiation proctitis

Associated phenotypes (HPO):
id: HP:0002034
hpo_term: Abnormal rectum morphology
chpo_term: 直肠形态结构异常
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
id: HP:0002597
hpo_term: Abnormality of the vasculature
chpo_term: 脉管系统异常
id: HP:0003549
hpo_term: Abnormality of connective tissue
chpo_term: 结缔组织异常
id: HP:0004296
hpo_term: Abnormal gastrointestinal vascular morphology
chpo_term: 胃肠血管形态异常
id: HP:0005224
hpo_term: Rectal abscess
chpo_term: 直肠脓肿
id: HP:0025015
hpo_term: Abnormal vascular morphology
chpo_term: 血管形态异常
id: HP:0100590
hpo_term: Rectal fistula
chpo_term: 直肠瘘
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0100279
hpo_term: Ulcerative colitis
chpo_term: 溃疡性结肠炎
id: HP:0500005
hpo_term: Anal pain
chpo_term: 肛门疼痛
id: HP:0005214
hpo_term: Intestinal obstruction
chpo_term: 肠梗阻
id: HP:0012089
hpo_term: Arteritis
chpo_term: 动脉炎
id: HP:0012702
hpo_term: Tenesmus
chpo_term: 里急后重
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
Disease (ORPHA:93110):
Posterior urethral valve
PUV

Associated phenotypes (HPO):
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0010957
hpo_term: Congenital posterior urethral valve
chpo_term: 先天性后尿道瓣膜
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0008718
hpo_term: Unilateral renal dysplasia
chpo_term: 单侧肾发育不良
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0010677
hpo_term: Enuresis nocturna
chpo_term: 遗尿症
id: HP:0010945
hpo_term: Fetal pyelectasis
chpo_term: 胎儿肾盂扩张
id: HP:0012330
hpo_term: Pyelonephritis
chpo_term: 肾盂肾炎
id: HP:0000016
hpo_term: Urinary retention
chpo_term: 尿潴留
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0005105
hpo_term: Abnormal nasal morphology
chpo_term: 鼻形态异常
id: HP:0008661
hpo_term: Urethral stenosis
chpo_term: 尿道狭窄
id: HP:0100518
hpo_term: Dysuria
chpo_term: 排尿困难
Disease (ORPHA:70476):
Spring catarrh
Vernal keratoconjunctivitis

Associated phenotypes (HPO):
id: HP:0000481
hpo_term: Abnormal cornea morphology
chpo_term: 角膜形态异常
id: HP:0000502
hpo_term: Abnormal conjunctiva morphology
chpo_term: 结膜形态异常
id: HP:0000591
hpo_term: Abnormal sclera morphology
chpo_term: 巩膜异常
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001096
hpo_term: Keratoconjunctivitis
chpo_term: 角膜结膜炎
id: HP:0007879
hpo_term: Allergic conjunctivitis
chpo_term: 过敏性结膜炎
id: HP:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:0011496
hpo_term: Corneal neovascularization
chpo_term: 角膜新生血管
id: HP:0011859
hpo_term: Punctate keratitis
chpo_term: 点状角膜炎
id: HP:0012393
hpo_term: Allergy
chpo_term: 过敏
id: HP:0025337
hpo_term: Red eye
chpo_term: 红眼
id: HP:0030953
hpo_term: Conjunctival hyperemia
chpo_term: 结膜充血
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
id: HP:0025350
hpo_term: Giant conjunctival papillae
chpo_term: 巨大结膜乳头
id: HP:0033841
hpo_term: Ocular pruritus
chpo_term: 眼部瘙痒
id: HP:0034804
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
id: HP:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0000563
hpo_term: Keratoconus
chpo_term: 圆锥角膜
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0012804
hpo_term: Corneal ulceration
chpo_term: 角膜溃疡
id: HP:0032107
hpo_term: Limbal stem cell deficiency
chpo_term: 角膜缘干细胞缺乏症
Disease (ORPHA:93111):
HNF1B-MODY
Maturity-onset diabetes of the young type 5
RCAD syndrome
Renal cysts and diabetes syndrome
HNF1B-related autosomal dominant tubulointerstitial kidney disease
Renal dysfunction-early-onset diabetes syndrome
MODY5
HNF1B-related nephropathy
ADTKD-HNF1B

Associated phenotypes (HPO):
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000813
hpo_term: Bicornuate uterus
chpo_term: 双角子宫
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:0000952
hpo_term: Jaundice
chpo_term: 黄疸
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:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0001994
hpo_term: Renal Fanconi syndrome
chpo_term: 肾范可尼综合征
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0005584
hpo_term: Renal cell carcinoma
chpo_term: 肾细胞癌
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0009715
hpo_term: Papillary cystadenoma of the epididymis
chpo_term: 附睾乳头状囊腺瘤
id: HP:0012092
hpo_term: Abnormality of exocrine pancreas physiology
chpo_term: 胰腺外分泌生理功能异常
id: HP:0012093
hpo_term: Abnormality of endocrine pancreas physiology
chpo_term: 胰腺内分泌生理功能异常
id: HP:0012873
hpo_term: Absent vas deferens
chpo_term: 输精管缺如
id: HP:0100800
hpo_term: Aplasia/Hypoplasia of the pancreas
chpo_term: 胰腺发育不良/发育不全
id: HP:0100820
hpo_term: Glomerulopathy
chpo_term: 肾小球病
Disease (ORPHA:1329):
Complete AVSD
Complete atrioventricular canal
Complete atrioventricular septal defect
CAVC
Complete atrioventricular septal defect with atrial and ventricular components
Complete atrioventricular canal defect

Associated phenotypes (HPO):
id: HP:0001674
hpo_term: Complete atrioventricular canal defect
chpo_term: 完全性房室通道缺损
id: HP:0010445
hpo_term: Primum atrial septal defect
chpo_term: 原发孔型房间隔缺损
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0003115
hpo_term: Abnormal EKG
chpo_term: 异常心电图
id: HP:0005120
hpo_term: Abnormal cardiac atrium morphology
chpo_term: 心房形态异常
id: HP:0012382
hpo_term: Left-to-right shunt
chpo_term: 左向右分流
id: HP:0025447
hpo_term: Displacement of the papillary muscles
chpo_term: 乳头肌移位
id: HP:0030950
hpo_term: Pulmonary venous hypertension
chpo_term: 肺静脉高压
id: HP:0030973
hpo_term: Postexertional symptom exacerbation
chpo_term: 活动后症状加重
id: HP:0031650
hpo_term: Abnormal atrioventricular valve physiology
chpo_term: 房室瓣生理异常
id: HP:0031664
hpo_term: Systolic heart murmur
chpo_term: 心脏收缩期杂音
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
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:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0030828
hpo_term: Wheezing
chpo_term: 哮鸣音
id: HP:0030864
hpo_term: Intercostal retractions
chpo_term: 肋间隙回缩
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
id: HP:0004890
hpo_term: Elevated pulmonary artery pressure
chpo_term: 肺动脉压升高
id: HP:0011712
hpo_term: Right bundle branch block
chpo_term: 右束支传导阻滞
id: HP:0030830
hpo_term: Crackles
chpo_term: 肺啰音
id: HP:0030848
hpo_term: Elevated jugular venous pressure
chpo_term: 颈静脉压升高
id: HP:0031595
hpo_term: Abnormal P wave
chpo_term: 异常P波
id: HP:0031658
hpo_term: Third heart sound
chpo_term: 第三心音
id: HP:0100786
hpo_term: Hypersomnia
chpo_term: 过度睡眠
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
Disease (ORPHA:1327):
Camptodactyly syndrome, Guadalajara type 1

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
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:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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: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:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
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:0006292
hpo_term: Abnormality of dental eruption
chpo_term: 牙萌出异常
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
id: HP:0009907
hpo_term: Attached earlobe
chpo_term: 附耳垂
id: HP:0010807
hpo_term: Open bite
chpo_term: 开牙合
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:1326):
Camptodactyly syndrome, Guadalajara type 2

Associated phenotypes (HPO):
id: HP:0000066
hpo_term: Labial hypoplasia
chpo_term: 阴唇发育不良
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001885
hpo_term: Short 2nd toe
chpo_term: 第二趾短小
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0003065
hpo_term: Patellar hypoplasia
chpo_term: 髌骨发育不全
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004634
hpo_term: Cuboid-shaped vertebral bodies
chpo_term: 立方体形椎体
id: HP:0005643
hpo_term: Short 3rd toe
chpo_term: 第三趾过短
id: HP:0011917
hpo_term: Short 5th toe
chpo_term: 第五趾短
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲