TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:42062):
Iminoglycinuria

Associated phenotypes (HPO):
id: HP:0003080
hpo_term: Hydroxyprolinuria
chpo_term: 羟脯氨酸尿症
id: HP:0003108
hpo_term: Hyperglycinuria
chpo_term: 高甘氨酸尿症
id: HP:0003137
hpo_term: Prolinuria
chpo_term: 脯氨酸尿
id: HP:0002154
hpo_term: Hyperglycinemia
chpo_term: 高甘氨酸血症
id: HP:0003260
hpo_term: Hydroxyprolinemia
chpo_term: 羟脯氨酸血症
id: HP:0008358
hpo_term: Hyperprolinemia
chpo_term: 高脯氨酸血症
Disease (ORPHA:438134):
PCNA-related progressive neurodegenerative photosensitivity syndrome

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002180
hpo_term: Neurodegeneration
chpo_term: 神经变性
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007763
hpo_term: Retinal telangiectasia
chpo_term: 视网膜毛细血管扩张
id: HP:0031087
hpo_term: Absent pubertal growth spurt
chpo_term: 缺乏青春期生长突增
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (ORPHA:566243):
RTHb
Resistance to thyroid hormone beta
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
Resistance to thyroid hormone due to a mutation in TRb

Associated phenotypes (HPO):
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0033075
hpo_term: Inappropriately normal thyroid-stimulating hormone level
chpo_term: 促甲状腺激素水平不适当正常
id: HP:0033077
hpo_term: Increased circulating free T4 concentration
chpo_term: 循环游离T4水平升高
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0011788
hpo_term: Increased circulating free T3
chpo_term: 血液游离T3升高
id: HP:0025379
hpo_term: Anti-thyroid peroxidase antibody positivity
chpo_term: 抗甲状腺过氧化物酶抗体阳性
id: HP:0032069
hpo_term: Anti-thyroglobulin antibody positivity
chpo_term: 抗甲状腺球蛋白抗体阳性
id: HP:0034288
hpo_term: Elevated circulating reverse T3 concentration
chpo_term: 循环反T3水平升高
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001530
hpo_term: Mild postnatal growth retardation
chpo_term: 轻度产后发育迟缓
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0025484
hpo_term: Increased circulating thyroglobulin level
chpo_term: 循环甲状腺球蛋白水平增高
id: HP:0031098
hpo_term: Decreased thyroid-stimulating hormone level
chpo_term: 促甲状腺激素水平降低
Disease (ORPHA:33111):
Granulomatous slack skin

Associated phenotypes (HPO):
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012189
hpo_term: Hodgkin lymphoma
chpo_term: 霍奇金淋巴瘤
id: HP:0030053
hpo_term: Stiff skin
chpo_term: 硬皮
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0002733
hpo_term: Abnormality of the lymph nodes
chpo_term: 淋巴结异常
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
Disease (ORPHA:505216):
MGA9
3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome
3-methylglutaconic aciduria type 9

Associated phenotypes (HPO):
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001533
hpo_term: Slender build
chpo_term: 修长的身材
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症
id: HP:0007204
hpo_term: Diffuse white matter abnormalities
chpo_term: 弥漫性脑白质异常
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011925
hpo_term: Decreased activity of mitochondrial ATP synthase complex
chpo_term: 线粒体ATP合成酶复合物活性降低
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
Disease (ORPHA:459061):
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Developmental delay-short stature-dysmorphic features-sparse hair syndrome
Loucks-Innes syndrome

Associated phenotypes (HPO):
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
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:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0007291
hpo_term: Posterior fossa cyst
chpo_term: 后颅窝囊肿
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000805
hpo_term: Enuresis
chpo_term: 遗尿症
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:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001970
hpo_term: Tubulointerstitial nephritis
chpo_term: 肾小管间质性肾炎
id: HP:0004442
hpo_term: Sagittal craniosynostosis
chpo_term: 矢状缝早闭
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0012712
hpo_term: Mild hearing impairment
chpo_term: 轻度听力损失
id: HP:0030799
hpo_term: Scaphocephaly
chpo_term: 舟状头
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
Disease (ORPHA:478):
Olfacto-genital pathological sequence
Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia

Associated phenotypes (HPO):
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000144
hpo_term: Decreased fertility
chpo_term: 生育能力下降
id: HP:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000830
hpo_term: Anterior hypopituitarism
chpo_term: 垂体前叶功能减退症
id: HP:0003164
hpo_term: Hypothalamic gonadotropin-releasing hormone deficiency
chpo_term: 下丘脑促性腺激素释放激素缺乏症
id: HP:0004409
hpo_term: Hyposmia
chpo_term: 嗅觉减退
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0100639
hpo_term: Erectile dysfunction
chpo_term: 勃起功能障碍
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0003187
hpo_term: Breast hypoplasia
chpo_term: 乳房发育不良
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0000008
hpo_term: Abnormal morphology of female internal genitalia
chpo_term: 女性内生殖器形态异常
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001335
hpo_term: Bimanual synkinesia
chpo_term: 双手联带运动
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0010550
hpo_term: Paraplegia
chpo_term: 截瘫
id: HP:0030016
hpo_term: Dyspareunia
chpo_term: 性交疼痛
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:79312):
Vitamin B12-unresponsive methylmalonic aciduria type mut-
Vitamin B12-unresponsive methylmalonic acidemia type mut-
Partial deficiency of methylmalonyl-CoA mutase

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
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: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:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
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:0001944
hpo_term: Dehydration
chpo_term: 脱水
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:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
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:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:93600):
Primary hyperoxaluria type 3

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0003110
hpo_term: Abnormality of urine homeostasis
chpo_term: 尿稳态平衡异常
id: HP:0003159
hpo_term: Hyperoxaluria
chpo_term: 高草酸尿症
id: HP:0008672
hpo_term: Calcium oxalate nephrolithiasis
chpo_term: 草酸钙肾结石
id: HP:0012211
hpo_term: Abnormal renal physiology
chpo_term: 肾脏生理异常
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0100515
hpo_term: Pollakisuria
chpo_term: 尿频
id: HP:0100518
hpo_term: Dysuria
chpo_term: 排尿困难
Disease (ORPHA:33110):
Autosomal non-syndromic agammaglobulinemia
Agammaglobulinemia, non-Bruton type
Autosomal agammaglobulinemia

Associated phenotypes (HPO):
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
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:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0004432
hpo_term: Agammaglobulinemia
chpo_term: 无丙种球蛋白血症
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0200043
hpo_term: Verrucae
chpo_term: 疣
Disease (ORPHA:79314):
L-2-hydroxyglutaric acidemia
L-2-HGA
L-2-hydroxyglutaric aciduria

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0006887
hpo_term: Intellectual disability, progressive
chpo_term: 进行性智力障碍
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0004375
hpo_term: Neoplasm of the nervous system
chpo_term: 神经系统的肿瘤
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
Disease (ORPHA:432):
nIHH
Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000118
hpo_term: Phenotypic abnormality
chpo_term: 表型异常
id: HP:0000134
hpo_term: Female hypogonadism
chpo_term: 女性性腺功能减退症
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003187
hpo_term: Breast hypoplasia
chpo_term: 乳房发育不良
id: HP:0003782
hpo_term: Eunuchoid habitus
chpo_term: 类无睾者习性
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0008187
hpo_term: Absence of secondary sex characteristics
chpo_term: 第二性征缺乏
id: HP:0008197
hpo_term: Absence of pubertal development
chpo_term: 青春期发育缺失
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0011961
hpo_term: Non-obstructive azoospermia
chpo_term: 非梗阻性无精症
id: HP:0030019
hpo_term: Increased female libido
chpo_term: 女性性欲亢进
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0000002
hpo_term: Abnormality of body height
chpo_term: 身高异常
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0008724
hpo_term: Hypoplasia of the ovary
chpo_term: 卵巢发育不良
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0002761
hpo_term: Generalized joint laxity
chpo_term: 周身关节松弛
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008527
hpo_term: Congenital sensorineural hearing impairment
chpo_term: 先天性感音神经性听力障碍
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0000026
hpo_term: Male hypogonadism
chpo_term: 男性性腺功能减退症
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
Disease (ORPHA:141291):
Cleft lip and alveolus

Associated phenotypes (HPO):
id: HP:0100267
hpo_term: Lip pit
chpo_term: 唇点凹
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0002793
hpo_term: Abnormal pattern of respiration
chpo_term: 呼吸模式异常
id: HP:0005105
hpo_term: Abnormal nasal morphology
chpo_term: 鼻形态异常
id: HP:0005216
hpo_term: Impaired mastication
chpo_term: 咀嚼功能受损
id: HP:0005324
hpo_term: Disturbance of facial expression
chpo_term: 面部表情障碍
id: HP:0009088
hpo_term: Speech articulation difficulties
chpo_term: 言语表达困难
id: HP:0410011
hpo_term: Abnormality of masticatory muscle
chpo_term: 咀嚼肌异常
id: HP:0000419
hpo_term: Abnormality of the nasal septum
chpo_term: 鼻中隔异常
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
Disease (ORPHA:369873):
Obesity due to SIM1 deficiency

Associated phenotypes (HPO):
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0005307
hpo_term: Postural hypotension with compensatory tachycardia
chpo_term: 体位性低血压伴代偿性心动过速
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0100503
hpo_term: Low levels of vitamin B1
chpo_term: 维生素B1缺乏症
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001952
hpo_term: Glucose intolerance
chpo_term: 糖耐量异常
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012339
hpo_term: Increased resting energy expenditure
chpo_term: 静息能量消耗增加
Disease (ORPHA:94090):
Pseudohypoparathyroidism type 2

Associated phenotypes (HPO):
id: HP:0000852
hpo_term: Pseudohypoparathyroidism
chpo_term: 假性甲状旁腺功能减退症
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002905
hpo_term: Hyperphosphatemia
chpo_term: 高磷血症
id: HP:0003165
hpo_term: Elevated circulating parathyroid hormone level
chpo_term: 血甲状旁腺激素水平升高
id: HP:0002199
hpo_term: Hypocalcemic seizures
chpo_term: 低钙发作
id: HP:0001657
hpo_term: Prolonged QT interval
chpo_term: QT间期延长
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003472
hpo_term: Hypocalcemic tetany
chpo_term: 低钙搐搦
id: HP:0003739
hpo_term: Myoclonic spasms
chpo_term: 肌阵挛性抽搐
id: HP:0011458
hpo_term: Abdominal symptom
chpo_term: 腹部症状
id: HP:0012049
hpo_term: Laryngeal dystonia
chpo_term: 喉肌张力障碍
id: HP:0003456
hpo_term: Low urinary cyclic AMP response to PTH administration
chpo_term: 尿环腺苷酸对甲状旁腺素（PTH）治疗反应低下
id: HP:0003761
hpo_term: Calcinosis
chpo_term: 钙质沉着
id: HP:0010766
hpo_term: Ectopic calcification
chpo_term: 异位钙化
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
Disease (ORPHA:324964):
Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
CNO/CRMO

Associated phenotypes (HPO):
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0005464
hpo_term: Craniofacial osteosclerosis
chpo_term: 颅面骨硬化
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100774
hpo_term: Hyperostosis
chpo_term: 骨质增生
id: HP:0100781
hpo_term: Abnormal sacroiliac joint morphology
chpo_term: 骶髂关节形态异常
id: HP:0100847
hpo_term: Palmoplantar pustulosis
chpo_term: 掌跖脓疱病