TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:603829):
Ventricular fibrillation, familial, 1
VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1

Associated phenotypes (HPO):
id: HP:0001663
hpo_term: Ventricular fibrillation
chpo_term: 心室纤颤
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
Disease (OMIM:605280):
SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT
Spastic paraplegia 13, autosomal dominant

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0000012
hpo_term: Urinary urgency
chpo_term: 尿急
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002839
hpo_term: Urinary bladder sphincter dysfunction
chpo_term: 膀胱括约肌功能障碍
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:612924):
Hemolytic uremic syndrome, atypical, susceptibility to, 4
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4

Associated phenotypes (HPO):
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0001937
hpo_term: Microangiopathic hemolytic anemia
chpo_term: 微血管病性溶血性贫血
id: HP:0005575
hpo_term: Hemolytic-uremic syndrome
chpo_term: 溶血性尿毒症综合征
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0100519
hpo_term: Anuria
chpo_term: 无尿症
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0003138
hpo_term: Increased blood urea nitrogen
chpo_term: 血液尿素氮升高
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619859):
PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY
Phosphoribosylaminoimidazole carboxylase deficiency

Associated phenotypes (HPO):
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000452
hpo_term: Choanal stenosis
chpo_term: 鼻后孔狭窄
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002032
hpo_term: Esophageal atresia
chpo_term: 食管闭锁
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000921
hpo_term: Missing ribs
chpo_term: 肋骨缺失
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008743
hpo_term: Coronal hypospadias
chpo_term: 冠状沟型尿道下裂
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0008439
hpo_term: Lumbar hemivertebrae
chpo_term: 腰椎半椎体
id: HP:0004502
hpo_term: Bilateral choanal atresia
chpo_term: 双侧后鼻孔闭锁
Disease (OMIM:617874):
POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS
Polycystic liver disease 3 with or without kidney cysts

Associated phenotypes (HPO):
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0001407
hpo_term: Hepatic cysts
chpo_term: 肝囊肿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:171000):
Peyronie disease
PEYRONIE DISEASE

Associated phenotypes (HPO):
id: HP:0001475
hpo_term: Male-limited expression
chpo_term: 男性限性表达
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0005679
hpo_term: Dupuytren contracture
chpo_term: 掌腱膜挛缩
Disease (OMIM:619681):
Dystonia, early-onset, and/or spastic paraplegia
DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA

Associated phenotypes (HPO):
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0012049
hpo_term: Laryngeal dystonia
chpo_term: 喉肌张力障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:615905):
Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25, WITH AMELOGENESIS IMPERFECTA

Associated phenotypes (HPO):
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0000705
hpo_term: Amelogenesis imperfecta
chpo_term: 牙釉质生长不全
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0031165
hpo_term: Multifocal seizures
chpo_term: 多灶性癫痫发作
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:175500):
Polyposis, skin pigmentation, alopecia, and fingernail changes
POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES

Associated phenotypes (HPO):
id: HP:0002243
hpo_term: Protein-losing enteropathy
chpo_term: 蛋白丢失性肠病
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0001907
hpo_term: Thromboembolism
chpo_term: 血栓栓塞症
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0002917
hpo_term: Hypomagnesemia
chpo_term: 低镁血症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0002672
hpo_term: Gastrointestinal carcinoma
chpo_term: 胃肠道癌
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0004390
hpo_term: Hamartomatous polyposis
chpo_term: 错构瘤性息肉病
id: HP:0100759
hpo_term: Clubbing of fingers
chpo_term: 杵状指
id: HP:0000206
hpo_term: Glossitis
chpo_term: 舌炎
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
Disease (OMIM:254210):
MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC
Myasthenic syndrome, congenital, 6, presynaptic

Associated phenotypes (HPO):
id: HP:0003554
hpo_term: Type 2 muscle fiber atrophy
chpo_term: 2型肌纤维萎缩
id: HP:0002872
hpo_term: Apneic episodes precipitated by illness, fatigue, stress
chpo_term: 因疾病、疲劳、紧张而导致的呼吸暂停发作
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002882
hpo_term: Sudden episodic apnea
chpo_term: 突然发作性呼吸暂停
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0003473
hpo_term: Fatigable weakness
chpo_term: 疲劳性肌无力
id: HP:0001283
hpo_term: Bulbar palsy
chpo_term: 球麻痹
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0003397
hpo_term: Generalized hypotonia due to defect at the neuromuscular junction
chpo_term: 由于神经肌肉接头缺陷导致的广泛性肌张力减低
id: HP:0030208
hpo_term: Anti-acetylcholine receptor antibody positivity
chpo_term: 抗乙酰胆碱受体抗体阳性
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱
id: HP:0003402
hpo_term: Decreased miniature endplate potentials
chpo_term: 微终板电位降低
id: HP:0003403
hpo_term: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
chpo_term: EMG：复合肌肉动作电位对重复神经刺激的反应递减
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:620772):
Developmental and epileptic encephalopathy 113
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0012707
hpo_term: Elevated brain lactate level by MRS
chpo_term: MRS发现乳酸水平升高
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0012708
hpo_term: Reduced brain N-acetyl aspartate level by MRS
chpo_term: 通过MRS发现N-乙酰天门冬氨酸水平降低
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0025373
hpo_term: Interictal EEG abnormality
chpo_term: 发作间期脑电图异常
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
Disease (OMIM:615911):
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002145
hpo_term: Frontotemporal dementia
chpo_term: 额颞叶痴呆
id: HP:0001283
hpo_term: Bulbar palsy
chpo_term: 球麻痹
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000727
hpo_term: Frontal lobe dementia
chpo_term: 额叶痴呆
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0007354
hpo_term: Amyotrophic lateral sclerosis
chpo_term: 肌萎缩侧索硬化
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:211980):
LUNG CANCER
Lung cancer, susceptibility to

Associated phenotypes (HPO):
id: HP:0030358
hpo_term: Non-small cell lung carcinoma
chpo_term: 非小细胞肺癌
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0006519
hpo_term: Alveolar cell carcinoma
chpo_term: 肺泡细胞癌
id: HP:0030078
hpo_term: Lung adenocarcinoma
chpo_term: 肺腺癌
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:612918):
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002144
hpo_term: Tethered cord
chpo_term: 脊髓栓系
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0025104
hpo_term: Capillary malformation
chpo_term: 毛细血管畸形
id: HP:0004099
hpo_term: Macrodactyly
chpo_term: 巨指
id: HP:0010301
hpo_term: Spinal dysraphism
chpo_term: 椎管闭合不全
id: HP:0012721
hpo_term: Venous malformation
chpo_term: 静脉畸形
id: HP:0012032
hpo_term: Lipoma
chpo_term: 脂肪瘤
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0001528
hpo_term: Hemihypertrophy
chpo_term: 偏身肥大
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0004437
hpo_term: Cranial hyperostosis
chpo_term: 颅骨骨质增生
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
Disease (OMIM:242300):
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
Ichthyosis, congenital, autosomal recessive 1

Associated phenotypes (HPO):
id: HP:0007549
hpo_term: Desquamation of skin soon after birth
chpo_term: 出生后皮肤剥脱
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0007431
hpo_term: Congenital ichthyosiform erythroderma
chpo_term: 先天性鱼鳞病样红皮病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0007479
hpo_term: Congenital nonbullous ichthyosiform erythroderma
chpo_term: 鱼鳞病样红皮病(大疱型)、大疱性鱼鳞病样角化过度症、显性遗传性先天性鱼鳞病、表皮松解性角化过度鱼鳞病
Disease (OMIM:620014):
LYMPHATIC MALFORMATION 12
Lymphatic malformation 12

Associated phenotypes (HPO):
id: HP:0031944
hpo_term: Pleural thickening
chpo_term: 胸膜增厚
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0025671
hpo_term: Fetal pericardial effusion
chpo_term: 胎儿心包积液
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0025676
hpo_term: Fetal pleural effusion
chpo_term: 胎儿胸腔积液
id: HP:0200117
hpo_term: Recurrent upper and lower respiratory tract infections
chpo_term: 上下呼吸道反复感染
id: HP:0001791
hpo_term: Fetal ascites
chpo_term: 胎儿腹水
id: HP:0001790
hpo_term: Nonimmune hydrops fetalis
chpo_term: 非免疫性胎儿水肿
id: HP:0011421
hpo_term: Death in adolescence
chpo_term: 青春期死亡
id: HP:0034197
hpo_term: Third trimester onset
chpo_term: 孕晚期起病
id: HP:0034198
hpo_term: Second trimester onset
chpo_term: 孕中期起病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0025677
hpo_term: Fetal chylothorax
chpo_term: 胎儿乳糜胸
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
Disease (OMIM:131430):
EOSINOPHILOPENIA

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001871
hpo_term: Abnormality of blood and blood-forming tissues
chpo_term: 血液和造血组织异常
id: HP:0031891
hpo_term: Decreased eosinophil count
chpo_term: 嗜酸性粒细胞计数减低
id: HP:0003193
hpo_term: Allergic rhinitis
chpo_term: 过敏性鼻炎
Disease (OMIM:619695):
RAUCH-STEINDL SYNDROME
Rauch-Steindl syndrome

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0004719
hpo_term: Hyperechogenic kidneys
chpo_term: 肾脏回声增强
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0009907
hpo_term: Attached earlobe
chpo_term: 附耳垂
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0012584
hpo_term: Bilateral renal hypoplasia
chpo_term: 双侧肾发育不良
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0001738
hpo_term: Exocrine pancreatic insufficiency
chpo_term: 胰腺外分泌功能不全
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000629
hpo_term: Periorbital fullness
chpo_term: 眶周丰满
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0007874
hpo_term: Almond-shaped palpebral fissure
chpo_term: 杏仁状睑裂
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0009899
hpo_term: Prominent crus of helix
chpo_term: 耳轮脚突出
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:608940):
SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY
Spondylometaphyseal dysplasia with cone-rod dystrophy

Associated phenotypes (HPO):
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0001132
hpo_term: Lens subluxation
chpo_term: 晶状体半脱位
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0004565
hpo_term: Severe platyspondyly
chpo_term: 重度扁平椎
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0009918
hpo_term: Ectopia pupillae
chpo_term: 瞳孔异位
id: HP:0003375
hpo_term: Narrow greater sciatic notch
chpo_term: 坐骨大切迹变窄
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
id: HP:0002657
hpo_term: Spondylometaphyseal dysplasia
chpo_term: 脊椎干骺端发育不良
id: HP:0001105
hpo_term: Retinal atrophy
chpo_term: 视网膜萎缩
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0000550
hpo_term: Undetectable electroretinogram
chpo_term: 视网膜电流图熄灭型
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0003300
hpo_term: Ovoid vertebral bodies
chpo_term: 卵形椎体
id: HP:0003021
hpo_term: Metaphyseal cupping
chpo_term: 干骺端内陷
id: HP:0030329
hpo_term: Retinal thinning
chpo_term: 视网膜变薄
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0031141
hpo_term: Increased hepatic echogenicity
chpo_term: 肝回声增强
id: HP:0008002
hpo_term: Abnormality of macular pigmentation
chpo_term: 黄斑色素沉着异常
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000887
hpo_term: Cupped ribs
chpo_term: 杯状肋骨端
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000548
hpo_term: Cone/cone-rod dystrophy
chpo_term: 锥杆细胞营养不良
id: HP:0008821
hpo_term: Hypoplastic inferior ilia
chpo_term: 髂骨发育不良
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000588
hpo_term: Optic disc coloboma
chpo_term: 视盘缺损