TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:637):
Nonmosaic NF2-related schwannomatosis
Full neurofibromatosis type 2
Nonmosaic neurofibromatosis type 2
Full NF2
Full NF2-related schwannomatosis

Associated phenotypes (HPO):
id: HP:0030430
hpo_term: Neuroma
chpo_term: 神经瘤
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0002196
hpo_term: Myelopathy
chpo_term: 脊髓病
id: HP:0002858
hpo_term: Meningioma
chpo_term: 脑膜瘤
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007787
hpo_term: Posterior subcapsular cataract
chpo_term: 后囊下白内障
id: HP:0009589
hpo_term: Bilateral vestibular schwannoma
chpo_term: 双侧前庭神经鞘瘤
id: HP:0009593
hpo_term: Peripheral Schwannoma
chpo_term: 周围神经鞘瘤
id: HP:0010302
hpo_term: Spinal cord tumor
chpo_term: 脊髓肿瘤
id: HP:0100009
hpo_term: Intracranial meningioma
chpo_term: 颅内脑膜瘤
id: HP:0100963
hpo_term: Hyperesthesia
chpo_term: 感觉过敏
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000587
hpo_term: Abnormality of the optic nerve
chpo_term: 视神经异常
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002512
hpo_term: Brain stem compression
chpo_term: 脑干受压
id: HP:0002888
hpo_term: Ependymoma
chpo_term: 室管膜瘤
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0009594
hpo_term: Retinal hamartoma
chpo_term: 视网膜错构瘤
id: HP:0009831
hpo_term: Mononeuropathy
chpo_term: 单神经病
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0031189
hpo_term: Wrist drop
chpo_term: 垂腕
id: HP:0100010
hpo_term: Spinal meningioma
chpo_term: 脊膜瘤
id: HP:0100014
hpo_term: Epiretinal membrane
chpo_term: 视网膜前膜
id: HP:0100019
hpo_term: Cortical cataract
chpo_term: 皮质性白内障
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0007968
hpo_term: Remnants of the hyaloid vascular system
chpo_term: 玻璃体血管系统残留
id: HP:0009592
hpo_term: Astrocytoma
chpo_term: 星形细胞瘤
id: HP:0009733
hpo_term: Glioma
chpo_term: 神经胶质瘤
Disease (ORPHA:638):
Neurofibromatosis type 1-Noonan syndrome
NFNS
Neurofibromatosis-Noonan syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003010
hpo_term: Prolonged bleeding time
chpo_term: 出血时间延长
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
id: HP:0009023
hpo_term: Abdominal wall muscle weakness
chpo_term: 腹壁肌无力
id: HP:0011039
hpo_term: Abnormal helix morphology
chpo_term: 耳轮形态异常
id: HP:0100763
hpo_term: Abnormality of the lymphatic system
chpo_term: 淋巴系统异常
Disease (ORPHA:633):
Primary growth hormone insensitivity
Complete growth hormone insensitivity
Short stature due to growth hormone resistance
Primary GH resistance
Growth hormone receptor deficiency
GH receptor deficiency
Laron-type dwarfism
Laron syndrome
Primary GH insensitivity
Primary growth hormone resistance

Associated phenotypes (HPO):
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:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0005281
hpo_term: Hypoplastic nasal bridge
chpo_term: 鼻梁发育不全
id: HP:0007495
hpo_term: Prematurely aged appearance
chpo_term: 早衰面容
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
id: HP:0009924
hpo_term: Aplasia/Hypoplasia involving the nose
chpo_term: 鼻发育不全／未发育
Disease (ORPHA:449427):
IgG4-related pachymeningitis
Idiopathic hypertrophic pachymeningitis

Associated phenotypes (HPO):
id: HP:0002921
hpo_term: Abnormality of the cerebrospinal fluid
chpo_term: 脑脊液异常
id: HP:0010652
hpo_term: Abnormal dura mater morphology
chpo_term: 硬膜形态异常
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0032300
hpo_term: Increased circulating IgG4 level
chpo_term: 血液IgG4增多
id: HP:0000123
hpo_term: Nephritis
chpo_term: 肾炎
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000587
hpo_term: Abnormality of the optic nerve
chpo_term: 视神经异常
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002088
hpo_term: Abnormal lung morphology
chpo_term: 肺部形态异常
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002385
hpo_term: Paraparesis
chpo_term: 下肢轻瘫
id: HP:0002840
hpo_term: Lymphadenitis
chpo_term: 淋巴结炎
id: HP:0003319
hpo_term: Abnormality of the cervical spine
chpo_term: 颈椎异常
id: HP:0003419
hpo_term: Low back pain
chpo_term: 下背部疼痛
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0009744
hpo_term: Abnormal spinal dura mater morphology
chpo_term: 脊髓硬膜形态异常
id: HP:0009911
hpo_term: Abnormal temporal bone morphology
chpo_term: 颞骨形态异常
id: HP:0010558
hpo_term: Abnormality of the clivus
chpo_term: 斜坡异常
id: HP:0011850
hpo_term: Parotitis
chpo_term: 腮腺炎
id: HP:0030833
hpo_term: Neck pain
chpo_term: 颈痛
id: HP:0045052
hpo_term: Abnormality of the brachial nerve plexus
chpo_term: 臂神经丛异常
id: HP:3000035
hpo_term: Abnormality of cervical plexus
chpo_term: 颈丛异常
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0004431
hpo_term: Complement deficiency
chpo_term: 补体缺陷
Disease (ORPHA:635):
Neuroblastoma

Associated phenotypes (HPO):
id: HP:0003006
hpo_term: Neuroblastoma
chpo_term: 神经母细胞瘤
id: HP:0004375
hpo_term: Neoplasm of the nervous system
chpo_term: 神经系统的肿瘤
id: HP:0011976
hpo_term: Elevated urinary catecholamines
chpo_term: 尿儿茶酚胺升高
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0003334
hpo_term: Elevated circulating catecholamine level
chpo_term: 血儿茶酚胺水平升高
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0031500
hpo_term: Abdominal mass
chpo_term: 腹部肿块
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001017
hpo_term: Anemic pallor
chpo_term: 贫血性白斑
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
id: HP:0002277
hpo_term: Horner syndrome
chpo_term: 霍纳综合征
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0011977
hpo_term: Elevated urinary homovanillic acid
chpo_term: 尿高香草酸水平升高
id: HP:0011978
hpo_term: Elevated urinary vanillylmandelic acid
chpo_term: 尿香草扁桃酸水平升高
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0031955
hpo_term: Antalgic gait
chpo_term: 减痛步态
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0010543
hpo_term: Opsoclonus
chpo_term: 斜视眼阵挛
id: HP:0025553
hpo_term: Periorbital ecchymosis with tarsal plate sparing
chpo_term: 不累及睑板的眶周瘀斑
Disease (ORPHA:168563):
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome

Associated phenotypes (HPO):
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0000026
hpo_term: Male hypogonadism
chpo_term: 男性性腺功能减退症
id: HP:0000055
hpo_term: Abnormality of female external genitalia
chpo_term: 女性外生殖器异常
id: HP:0000133
hpo_term: Gonadal dysgenesis
chpo_term: 性腺发育不全
id: HP:0000142
hpo_term: Abnormal vagina morphology
chpo_term: 阴道形态异常
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0000837
hpo_term: Increased circulating gonadotropin level
chpo_term: 促性腺激素水平升高
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003130
hpo_term: Abnormal peripheral myelination
chpo_term: 外周神经髓鞘异常
id: HP:0003134
hpo_term: Abnormality of peripheral nerve conduction
chpo_term: 周围神经传导异常
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003409
hpo_term: Distal sensory impairment of all modalities
chpo_term: 远端各种感觉障碍
id: HP:0003434
hpo_term: Sensory ataxic neuropathy
chpo_term: 感觉性共济失调性神经病
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0008214
hpo_term: Decreased serum estradiol
chpo_term: 血清雌二醇水平降低
id: HP:0008715
hpo_term: Testicular dysgenesis
chpo_term: 睾丸发育不全
id: HP:0008723
hpo_term: Gonadal dysgenesis with female appearance, male
chpo_term: 男性性腺发育不全，女性外表
id: HP:0010464
hpo_term: Streak ovary
chpo_term: 条索状卵巢
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0045010
hpo_term: Abnormality of peripheral nerves
chpo_term: 周围神经异常
id: HP:0000150
hpo_term: Gonadoblastoma
chpo_term: 性腺母细胞瘤
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
Disease (ORPHA:634):
Netherton syndrome
Bamboo hair syndrome
Comèl-Netherton syndrome
NS

Associated phenotypes (HPO):
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
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
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0009886
hpo_term: Trichorrhexis nodosa
chpo_term: 结节性脆发症
id: HP:0100326
hpo_term: Immunologic hypersensitivity
chpo_term: 免疫过敏
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:0002097
hpo_term: Emphysema
chpo_term: 气肿
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
Disease (ORPHA:261229):
Trisomy 14q11.2
Dup(14)(q11.2)
14q11.2 microduplication syndrome

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0002263
hpo_term: Exaggerated cupid's bow
chpo_term: 夸张的丘比特唇弓
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
Disease (ORPHA:289916):
Vitamin B12-unresponsive methylmalonic aciduria type mut0
Complete deficiency of methylmalonyl-CoA mutase
Vitamin B12-unresponsive methylmalonic acidemia type mut0

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000124
hpo_term: Renal tubular dysfunction
chpo_term: 肾小管功能障碍
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:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
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:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
Disease (ORPHA:261222):
Distal del(16)(p11.2)
Distal monosomy 16p11.2
Distal 16p11.2 microdeletion syndrome

Associated phenotypes (HPO):
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000300
hpo_term: Oval face
chpo_term: 卵形脸
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(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:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0011351
hpo_term: Moderate receptive language delay
chpo_term: 语言理解中度发育延迟
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
Disease (ORPHA:435628):
Keppen-Lubinsky syndrome
Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0005328
hpo_term: Progeroid facial appearance
chpo_term: 早衰面容
id: HP:0009059
hpo_term: Congenital generalized lipodystrophy
chpo_term: 先天性全身脂肪营养不良
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0100678
hpo_term: Premature skin wrinkling
chpo_term: 皮肤过早起皱
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000290
hpo_term: Abnormality of the forehead
chpo_term: 前额异常
id: HP:0000292
hpo_term: Loss of facial adipose tissue
chpo_term: 面部脂肪组织丢失
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000446
hpo_term: Narrow nasal bridge
chpo_term: 鼻梁狭窄
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000586
hpo_term: Shallow orbits
chpo_term: 浅眼眶
id: HP:0001090
hpo_term: Abnormally large globe
chpo_term: 大眼球
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002781
hpo_term: Upper airway obstruction
chpo_term: 上气道阻塞
id: HP:0005274
hpo_term: Prominent nasal tip
chpo_term: 鼻尖突出
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0009933
hpo_term: Narrow naris
chpo_term: 鼻孔狭窄
id: HP:0010751
hpo_term: Dimple chin
chpo_term: 下巴浅凹
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
Disease (ORPHA:320406):
Spastic paraplegia-optic atrophy-neuropathy syndrome
SPOAN

Associated phenotypes (HPO):
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002267
hpo_term: Exaggerated startle response
chpo_term: 过度惊跳反射
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002600
hpo_term: Hyporeflexia of lower limbs
chpo_term: 下肢反射减弱
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
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:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0007020
hpo_term: Progressive spastic paraplegia
chpo_term: 进行性痉挛性截瘫
id: HP:0007054
hpo_term: Proximal hyperreflexia
chpo_term: 近端腱反射增高
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍