TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:613767):
Retinitis pigmentosa 45
RETINITIS PIGMENTOSA 45

Associated phenotypes (HPO):
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007994
hpo_term: Peripheral visual field loss
chpo_term: 周边视野缺失
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
Disease (OMIM:217090):
PLASMINOGEN DEFICIENCY, TYPE I
Plasminogen deficiency, type I

Associated phenotypes (HPO):
id: HP:0000230
hpo_term: Gingivitis
chpo_term: 牙龈炎
id: HP:0000123
hpo_term: Nephritis
chpo_term: 肾炎
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0034197
hpo_term: Third trimester onset
chpo_term: 孕晚期起病
id: HP:0000704
hpo_term: Periodontitis
chpo_term: 牙周炎
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0001977
hpo_term: Abnormal thrombosis
chpo_term: 异常血栓形成
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0040228
hpo_term: Decreased level of plasminogen
chpo_term: 纤溶酶原水平下降
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0002588
hpo_term: Duodenal ulcer
chpo_term: 十二指肠溃疡
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
Disease (OMIM:613001):
Encephalocraniocutaneous lipomatosis
ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001031
hpo_term: Subcutaneous lipoma
chpo_term: 皮下脂肪瘤
id: HP:0100251
hpo_term: Multiple central nervous system lipomas
chpo_term: 多发中枢神经系统脂肪瘤
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
id: HP:0012032
hpo_term: Lipoma
chpo_term: 脂肪瘤
id: HP:0002539
hpo_term: Cortical dysplasia
chpo_term: 皮质发育不良
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0007546
hpo_term: Linear hyperpigmentation
chpo_term: 线状色素沉着
id: HP:0001682
hpo_term: Subvalvular aortic stenosis
chpo_term: 主动脉瓣下狭窄
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0001140
hpo_term: Limbal dermoid
chpo_term: 角膜缘皮样囊肿
id: HP:0002132
hpo_term: Porencephalic cyst
chpo_term: 脑穿通性囊肿
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0034587
id: HP:0009592
hpo_term: Astrocytoma
chpo_term: 星形细胞瘤
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0004969
hpo_term: Peripheral pulmonary artery stenosis
chpo_term: 周围肺动脉狭窄
id: HP:0000625
hpo_term: Eyelid coloboma
chpo_term: 眼睑缺损
id: HP:0007676
hpo_term: Hypoplasia of the iris
chpo_term: 虹膜发育不全
id: HP:0000647
hpo_term: Sclerocornea
chpo_term: 角膜巩膜化
id: HP:0000125
hpo_term: Pelvic kidney
chpo_term: 盆腔肾
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:161800):
Nemaline myopathy 3
NEMALINE MYOPATHY 3

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0003722
hpo_term: Neck flexor weakness
chpo_term: 颈屈肌无力
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0003445
hpo_term: EMG: neuropathic changes
chpo_term: 肌电图：神经源性变化
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0001283
hpo_term: Bulbar palsy
chpo_term: 球麻痹
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
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:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
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:0001533
hpo_term: Slender build
chpo_term: 修长的身材
id: HP:0003798
hpo_term: Nemaline bodies
chpo_term: 杆状体
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003810
hpo_term: Late-onset distal muscle weakness
chpo_term: 晚发型远端肌无力
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
Disease (OMIM:618154):
Hennekam lymphangiectasia-lymphedema syndrome 3
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3

Associated phenotypes (HPO):
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
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:0002243
hpo_term: Protein-losing enteropathy
chpo_term: 蛋白丢失性肠病
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002108
hpo_term: Spontaneous pneumothorax
chpo_term: 自发性气胸
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
Disease (OMIM:610508):
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7
Maturity-onset diabetes of the young, type VII

Associated phenotypes (HPO):
id: HP:0004904
hpo_term: Maturity-onset diabetes of the young
chpo_term: 青少年发病的成人型糖尿病
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618140):
Deafness, autosomal dominant 74
DEAFNESS, AUTOSOMAL DOMINANT 74

Associated phenotypes (HPO):
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:607060):
PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
Parkinson disease 8, autosomal dominant

Associated phenotypes (HPO):
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0011960
hpo_term: Substantia nigra gliosis
chpo_term: 黑质神经胶质增生
id: HP:0100315
hpo_term: Lewy bodies
chpo_term: 路易体
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0004409
hpo_term: Hyposmia
chpo_term: 嗅觉减退
id: HP:0002548
hpo_term: Parkinsonism with favorable response to dopaminergic medication
chpo_term: 对多巴胺能药物反应良好的帕金森
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:268650):
Rudiger syndrome
RUDIGER SYNDROME

Associated phenotypes (HPO):
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001042
hpo_term: High axial triradius
chpo_term: 高位轴三角掌纹
id: HP:0011927
hpo_term: Short digit
chpo_term: 短指（趾）畸形
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0001804
hpo_term: Hypoplastic fingernail
chpo_term: 指甲发育不良
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000813
hpo_term: Bicornuate uterus
chpo_term: 双角子宫
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000138
hpo_term: Ovarian cyst
chpo_term: 卵巢囊肿
id: HP:0008714
hpo_term: Ureterovesical stenosis
chpo_term: 输尿管膀胱交界处狭窄
Disease (OMIM:201180):
ACROFRONTOFACIONASAL DYSOSTOSIS 1
Acrofrontofacionasal dysostosis 1

Associated phenotypes (HPO):
id: HP:0004523
hpo_term: Long eyebrows
chpo_term: 长眉
id: HP:0007835
hpo_term: S-shaped palpebral fissures
chpo_term: S形睑裂
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0008807
hpo_term: Acetabular dysplasia
chpo_term: 髋臼发育不良
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000410
hpo_term: Mixed hearing impairment
chpo_term: 混合性听力损失
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001089
hpo_term: Iris atrophy
chpo_term: 虹膜萎缩
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000349
hpo_term: Widow's peak
chpo_term: 美人尖
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
Disease (OMIM:619538):
CEREBRAL CAVERNOUS MALFORMATIONS 4
Cerebral cavernous malformations 4

Associated phenotypes (HPO):
id: HP:0025352
hpo_term: Typically de novo
chpo_term: 典型的新生突变
id: HP:0033522
hpo_term: Cerebral cavernous malformation
chpo_term: 脑海绵状血管瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:607706):
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0003378
hpo_term: Axonal degeneration/regeneration
chpo_term: 轴索变性/再生
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001178
hpo_term: Ulnar claw
chpo_term: 尺侧爪形手
id: HP:0006937
hpo_term: Impaired distal tactile sensation
chpo_term: 远端触觉感觉障碍
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0003383
hpo_term: Onion bulb formation
chpo_term: 洋葱球形成
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0003380
hpo_term: Decreased number of peripheral myelinated nerve fibers
chpo_term: 周围有髓神经纤维数量减少
id: HP:0007230
hpo_term: Decreased distal sensory nerve action potential
chpo_term: 远端感觉神经动作电位降低
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0008443
hpo_term: Neuropathic spinal arthropathy
chpo_term: 神经性脊柱关节病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001604
hpo_term: Vocal cord paresis
chpo_term: 声带不全性麻痹
id: HP:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
id: HP:0006886
hpo_term: Impaired distal vibration sensation
chpo_term: 远端振动觉障碍
id: HP:0000764
hpo_term: Peripheral axonal degeneration
chpo_term: 外围神经轴索变性
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
Disease (OMIM:214200):
Ceroid storage disease
MOVED TO 256730

Associated phenotypes (HPO):
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001743
hpo_term: Abnormality of the spleen
chpo_term: 脾脏异常
Disease (OMIM:620352):
Developmental and epileptic encephalopathy 31B, autosomal recessive
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0010808
hpo_term: Protruding tongue
chpo_term: 舌头过长
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000283
hpo_term: Broad face
chpo_term: 宽脸
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0012704
hpo_term: Widened subarachnoid space
chpo_term: 蛛网膜下腔增宽
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0020221
hpo_term: Clonic seizure
chpo_term: 阵挛性癫痫发作
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0030842
hpo_term: Choking episodes
chpo_term: 窒息发作
id: HP:0030048
hpo_term: Colpocephaly
chpo_term: 枕角扩大畸形
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0033454
hpo_term: Tube feeding
chpo_term: 管饲
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0034295
hpo_term: Reduced cerebral white matter volume
chpo_term: 脑白质容积减少
id: HP:0034353
hpo_term: Appendicular spasticity
chpo_term: 四肢痉挛
id: HP:0031165
hpo_term: Multifocal seizures
chpo_term: 多灶性癫痫发作
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:0007874
hpo_term: Almond-shaped palpebral fissure
chpo_term: 杏仁状睑裂
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:600082):
PROSTATIC HYPERPLASIA, BENIGN
Prostatic hyperplasia, benign

Associated phenotypes (HPO):
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0008711
hpo_term: Benign prostatic hyperplasia
chpo_term: 前列腺良性增生
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618815):
CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT
Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001989
hpo_term: Fetal akinesia sequence
chpo_term: 胎儿运动不能序列征
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
Disease (OMIM:210700):
Microcephalic primordial dwarfism, Montreal type
MICROCEPHALIC PRIMORDIAL DWARFISM, MONTREAL TYPE

Associated phenotypes (HPO):
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0007605
hpo_term: Excessive wrinkling of palmar skin
chpo_term: 手掌部皱褶过多
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0001090
hpo_term: Abnormally large globe
chpo_term: 大眼球
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:0006872
hpo_term: Cerebral hypoplasia
chpo_term: 脑发育不全
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:300261):
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE
Mental retardation syndrome, X-linked, Armfield type

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0005922
hpo_term: Abnormal hand morphology
chpo_term: 手形态异常
Disease (OMIM:616192):
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS

Associated phenotypes (HPO):
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0010871
hpo_term: Sensory ataxia
chpo_term: 感觉性共济失调
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0034063
hpo_term: Anti-islet antigen-2 antibody positivity
chpo_term: 抗胰岛抗原2抗体阳性
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
id: HP:0040217
hpo_term: Elevated hemoglobin A1c
chpo_term: 糖化血红蛋白水平增高
id: HP:0003448
hpo_term: Decreased sensory nerve conduction velocity
chpo_term: 感觉神经传导速度降低
id: HP:0002522
hpo_term: Areflexia of lower limbs
chpo_term: 下肢反射消失
Disease (OMIM:171420):
PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME
Pheochromocytoma-Islet cell tumor syndrome

Associated phenotypes (HPO):
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0003345
hpo_term: Elevated urinary norepinephrine
chpo_term: 尿去甲肾上腺素浓度增高
id: HP:0003574
hpo_term: Positive regitine blocking test
chpo_term: 酚妥拉明阻断试验阳性
id: HP:0001095
hpo_term: Hypertensive retinopathy
chpo_term: 高血压性视网膜病变
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0000997
hpo_term: Axillary freckling
chpo_term: 腋窝雀斑
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000875
hpo_term: Episodic hypertension
chpo_term: 阵发性高血压
id: HP:0002666
hpo_term: Pheochromocytoma
chpo_term: 嗜铬细胞瘤