TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:617916):
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7
Neurodegeneration with brain iron accumulation 7

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0033643
hpo_term: Increased circulating very long-chain fatty acid concentration
chpo_term: 循环极长链脂肪酸浓度增加
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0012675
hpo_term: Iron accumulation in brain
chpo_term: 脑内铁累积
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0002503
hpo_term: Spinocerebellar tract degeneration
chpo_term: 脊髓小脑束变性
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:163200):
SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
Schimmelpenning-Feuerstein-Mims syndrome

Associated phenotypes (HPO):
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0003109
hpo_term: Hyperphosphaturia
chpo_term: 高磷酸盐尿症
id: HP:0001528
hpo_term: Hemihypertrophy
chpo_term: 偏身肥大
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0004912
hpo_term: Hypophosphatemic rickets
chpo_term: 低磷性佝偻病
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0007206
hpo_term: Hemimegalencephaly
chpo_term: 偏侧巨脑/偏侧巨脑畸形
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0010815
hpo_term: Nevus sebaceous
chpo_term: 皮脂腺痣
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0001167
hpo_term: Abnormality of finger
chpo_term: 手指异常
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0001780
hpo_term: Abnormality of toe
chpo_term: 脚趾异常
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0010817
hpo_term: Linear nevus sebaceous
chpo_term: 线状皮脂腺痣
id: HP:0011073
hpo_term: Abnormality of dental color
chpo_term: 牙齿颜色异常
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000267
hpo_term: Cranial asymmetry
chpo_term: 颅骨不对称
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
Disease (OMIM:242510):
ICHTHYOSIS WITH ALOPECIA, ECLABIUM, ECTROPION, AND MENTAL RETARDATION
Ichthyosis with alopecia, eclabion, ectropion, and mental retardation

Associated phenotypes (HPO):
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:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:615697):
EPILEPSY, FAMILIAL TEMPORAL LOBE, 6
Epilepsy, familial temporal lobe, 6

Associated phenotypes (HPO):
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0002349
hpo_term: Focal aware seizure
chpo_term: 知觉保留的局灶性发作
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:166350):
Osseous heteroplasia, progressive
OSSEOUS HETEROPLASIA, PROGRESSIVE

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0025027
hpo_term: Osteoma cutis
chpo_term: 皮肤骨瘤
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0031013
hpo_term: Ankylosis
chpo_term: 关节僵硬
id: HP:0011987
hpo_term: Ectopic ossification in muscle tissue
chpo_term: 肌肉组织异位性骨化
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:179270):
Radial ray hypoplasia with choanal atresia
RADIAL RAY HYPOPLASIA WITH CHOANAL ATRESIA

Associated phenotypes (HPO):
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0001245
hpo_term: Small thenar eminence
chpo_term: 小鱼际小
id: HP:0000452
hpo_term: Choanal stenosis
chpo_term: 鼻后孔狭窄
id: HP:0009622
hpo_term: Distally placed thumb
chpo_term: 拇指远置
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
Disease (OMIM:617080):
SEIZURES, BENIGN FAMILIAL INFANTILE, 5
Seizures, benign familial infantile, 5

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007166
hpo_term: Paroxysmal dyskinesia
chpo_term: 发作性运动障碍
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619913):
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103
Developmental and epileptic encephalopathy 103

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0031491
hpo_term: Continuous spike and waves during slow sleep
chpo_term: 慢波睡眠期持续棘慢波的癫痫
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0000211
hpo_term: Trismus
chpo_term: 张口受限
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0025097
hpo_term: Eyelid myoclonus
chpo_term: 眼睑肌阵挛
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0002392
hpo_term: EEG with polyspike wave complexes
chpo_term: 脑电图，伴多棘慢复合波
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0032670
hpo_term: Tonic status epilepticus
chpo_term: 强直性癫痫持续状态
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:191900):
Muckle-Wells syndrome
MUCKLE-WELLS SYNDROME

Associated phenotypes (HPO):
id: HP:0030953
hpo_term: Conjunctival hyperemia
chpo_term: 结膜充血
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0031191
hpo_term: Deep dermal perivascular inflammatory infiltrate
chpo_term: 真皮深层血管周围炎性浸润
id: HP:0012432
hpo_term: Chronic fatigue
chpo_term: 慢性疲劳
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0005764
hpo_term: Polyarticular arthritis
chpo_term: 多发性关节炎
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
id: HP:0011107
hpo_term: Recurrent aphthous stomatitis
chpo_term: 复发性口疮性口炎
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0000408
hpo_term: Progressive sensorineural hearing impairment
chpo_term: 渐进性感音神经性听力损失
id: HP:0100759
hpo_term: Clubbing of fingers
chpo_term: 杵状指
id: HP:0040186
hpo_term: Maculopapular exanthema
chpo_term: 斑丘疹样皮疹
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0001917
hpo_term: Renal amyloidosis
chpo_term: 肾淀粉样病变
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
Disease (OMIM:602499):
Macrophthalmia, colobomatous, with microcornea
MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA

Associated phenotypes (HPO):
id: HP:0000594
hpo_term: Shallow anterior chamber
chpo_term: 浅前房
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
id: HP:0007720
hpo_term: Flat cornea
chpo_term: 扁平角膜
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0007800
hpo_term: Increased axial length of the globe
chpo_term: 眼球轴长度增加
id: HP:0000588
hpo_term: Optic disc coloboma
chpo_term: 视盘缺损
Disease (OMIM:226900):
Epiphyseal dysplasia, multiple, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4

Associated phenotypes (HPO):
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
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:0003370
hpo_term: Flat capital femoral epiphysis
chpo_term: 股骨近端骨骺扁平
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0031174
hpo_term: Double-layered patella
chpo_term: 双层髌骨
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006376
hpo_term: Limited elbow flexion
chpo_term: 屈肘受限
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0008802
hpo_term: Hypoplasia of the femoral head
chpo_term: 股骨头发育低下
id: HP:0002654
hpo_term: Multiple epiphyseal dysplasia
chpo_term: 多发性骨骺发育不良
Disease (OMIM:612852):
Interleukin 1 receptor antagonist deficiency
OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS

Associated phenotypes (HPO):
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0011897
hpo_term: Neutrophilia
chpo_term: 中性粒细胞增多症
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0025116
hpo_term: Fetal distress
chpo_term: 胎儿窘迫
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0025615
hpo_term: Abscess
chpo_term: 脓肿
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0010280
hpo_term: Stomatitis
chpo_term: 口腔炎
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0040165
hpo_term: Periostitis
chpo_term: 骨膜炎
id: HP:0000904
hpo_term: Flaring of rib cage
chpo_term: 喇叭状胸廓
id: HP:0002949
hpo_term: Fused cervical vertebrae
chpo_term: 颈椎融合
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0000885
hpo_term: Broad ribs
chpo_term: 宽肋骨
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
Disease (OMIM:611383):
USHER SYNDROME, TYPE IID
Usher syndrome, type IID

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
Disease (OMIM:615683):
Spastic paraplegia 64, autosomal recessive
SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:615668):
Chromosome 5q12 deletion syndrome
CHROMOSOME 5q12 DELETION SYNDROME

Associated phenotypes (HPO):
id: HP:0002003
hpo_term: Large forehead
chpo_term: 大额头
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
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:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0045082
hpo_term: Decreased body mass index
chpo_term: 体重指数下降
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0010511
hpo_term: Long toe
chpo_term: 长脚趾
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0010880
hpo_term: Increased nuchal translucency
chpo_term: 颈部透明层厚度增加
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
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
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
Disease (OMIM:260000):
Hyperoxaluria, primary, type II
HYPEROXALURIA, PRIMARY, TYPE II

Associated phenotypes (HPO):
id: HP:6000670
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0012100
hpo_term: Abnormal circulating creatinine concentration
chpo_term: 循环系统肌酐水平异常
id: HP:0003159
hpo_term: Hyperoxaluria
chpo_term: 高草酸尿症
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0008672
hpo_term: Calcium oxalate nephrolithiasis
chpo_term: 草酸钙肾结石
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0011280
hpo_term: Abnormality of urine calcium concentration
chpo_term: 尿钙浓度异常
id: HP:6000638
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
Disease (OMIM:604765):
CARDIOMYOPATHY, DILATED, 1I
Cardiomyopathy, dilated, 1I

Associated phenotypes (HPO):
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0006673
hpo_term: Reduced systolic function
chpo_term: 心收缩功能降低
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:619052):
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8
Mitochondrial complex IV deficiency, nuclear type 8

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0030223
hpo_term: Perseveration
chpo_term: 持续症现象
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0032005
hpo_term: Hemidystonia
chpo_term: 单侧肌张力障碍
id: HP:0025162
hpo_term: Severe temper tantrums
chpo_term: 严重脾气爆发/大发脾气
id: HP:0007183
hpo_term: Focal T2 hyperintense basal ganglia lesion
chpo_term: 基底节局灶性T2高信号病变
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003688
hpo_term: Cytochrome C oxidase-negative muscle fibers
chpo_term: 细胞色素C氧化酶阴性肌肉纤维
Disease (OMIM:616361):
Parkinson disease 21
PARKINSON DISEASE 21

Associated phenotypes (HPO):
id: HP:0100315
hpo_term: Lewy bodies
chpo_term: 路易体
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
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:0001337
hpo_term: Tremor
chpo_term: 震颤
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:609241):
SCHINDLER DISEASE, TYPE I
Schindler disease, type I

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003461
hpo_term: Increased urinary O-linked sialopeptides
chpo_term: 尿液唾液酸肽增加
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:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:4000202
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
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:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
Disease (OMIM:264500):
Pseudouridinuria and mental defect
PSEUDOURIDINURIA AND MENTAL DEFECT

Associated phenotypes (HPO):
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:616407):
BROWN SYNDROME
Brown syndrome

Associated phenotypes (HPO):
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0031622
hpo_term: Brown anomaly
chpo_term: Brown异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传