TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:215100):
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
Rhizomelic chondrodysplasia punctata, type 1

Associated phenotypes (HPO):
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0010571
hpo_term: Elevated levels of phytanic acid
chpo_term: 植烷酸水平升高
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0001525
hpo_term: Severe failure to thrive
chpo_term: 严重生长障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0005841
hpo_term: Calcific stippling of infantile cartilaginous skeleton
chpo_term: 婴儿软骨骨骼点状钙化
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010655
hpo_term: Epiphyseal stippling
chpo_term: 骨骺点状钙化
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003417
hpo_term: Coronal cleft vertebrae
chpo_term: 冠状位脊柱裂
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:134610):
Familial Mediterranean fever, AD
FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0002102
hpo_term: Pleuritis
chpo_term: 胸膜炎
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001055
hpo_term: Erysipelas
chpo_term: 丹毒
id: HP:0005764
hpo_term: Polyarticular arthritis
chpo_term: 多发性关节炎
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
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:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
Disease (OMIM:245050):
Succinyl CoA:3-oxoacid CoA transferase deficiency
SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY

Associated phenotypes (HPO):
id: HP:0005974
hpo_term: Episodic ketoacidosis
chpo_term: 阵发性酸中毒
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:6000361
id: HP:0040155
hpo_term: Elevated urinary 3-hydroxybutyric acid
chpo_term: 尿3-羟基丁酸水平升高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:136760):
Frontonasal dysplasia 1
FRONTONASAL DYSPLASIA 1

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0004423
hpo_term: Cranium bifidum occultum
chpo_term: 隐性颅裂
id: HP:0005258
hpo_term: Pectoral muscle hypoplasia/aplasia
chpo_term: 胸肌发育不全/发育不良
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000161
hpo_term: Median cleft lip
chpo_term: 正中唇裂
id: HP:0002000
hpo_term: Short columella
chpo_term: 鼻小柱短小
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0007541
hpo_term: Frontal cutaneous lipoma
chpo_term: 前额皮肤脂肪瘤
id: HP:0002738
hpo_term: Hypoplastic frontal sinuses
chpo_term: 额窦发育不全
id: HP:0006992
hpo_term: Anterior basal encephalocele
chpo_term: 前基底脑膨出
id: HP:0009466
hpo_term: Radial deviation of finger
chpo_term: 手指桡侧偏斜
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0001566
hpo_term: Widely-spaced maxillary central incisors
chpo_term: 上颌中切牙牙间隙增宽
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0006931
hpo_term: Pericallosal lipoma
chpo_term: 胼胝体周围脂肪瘤
id: HP:0000456
hpo_term: Bifid nasal tip
chpo_term: 鼻尖裂
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0011803
hpo_term: Bifid nose
chpo_term: 鼻裂
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0009099
hpo_term: Median cleft palate
chpo_term: 正中腭裂
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000349
hpo_term: Widow's peak
chpo_term: 美人尖
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
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:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
Disease (OMIM:616199):
POLYGLUCOSAN BODY MYOPATHY 2
Polyglucosan body myopathy 2

Associated phenotypes (HPO):
id: HP:0008946
hpo_term: Pelvic girdle amyotrophy
chpo_term: 骨盆带肌萎缩
id: HP:0030237
hpo_term: Hand muscle weakness
chpo_term: 手肌无力
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0011727
hpo_term: Peroneal muscle weakness
chpo_term: 腓骨肌无力
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0034766
id: HP:0100299
hpo_term: Muscle fiber inclusion bodies
chpo_term: 肌纤维包涵体
id: HP:0010546
hpo_term: Muscle fibrillation
chpo_term: 肌纤维颤动
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0003749
hpo_term: Pelvic girdle muscle weakness
chpo_term: 骨盆带肌无力
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003547
hpo_term: Shoulder girdle muscle weakness
chpo_term: 肩胛带肌肉无力
id: HP:0003325
hpo_term: Limb-girdle muscle weakness
chpo_term: 肢带肌无力
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:615490):
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R
Charcot-Marie-Tooth disease, axonal, type 2R

Associated phenotypes (HPO):
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
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:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0040078
hpo_term: Axonal degeneration
chpo_term: 轴索变性
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002779
hpo_term: Tracheomalacia
chpo_term: 气管软化
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0008954
hpo_term: Intrinsic hand muscle atrophy
chpo_term: 手部内在肌萎缩
Disease (OMIM:241550):
HYPOPLASTIC LEFT HEART SYNDROME 1
Hypoplastic left heart syndrome

Associated phenotypes (HPO):
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0010983
hpo_term: Oligogenic inheritance
chpo_term: 寡基因遗传
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:236900):
Hydroxylysinuria
HYDROXYLYSINURIA

Associated phenotypes (HPO):
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0003297
hpo_term: Hyperlysinuria
chpo_term: 高赖氨酸尿症
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:261680):
PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC
Phosphoenolpyruvate carboxykinase deficiency, cytosolic

Associated phenotypes (HPO):
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0003572
hpo_term: Low plasma citrulline
chpo_term: 低血浆瓜氨酸
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:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003162
hpo_term: Fasting hypoglycemia
chpo_term: 空腹低血糖
id: HP:0002480
hpo_term: Hepatic encephalopathy
chpo_term: 肝性脑病
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
id: HP:6000619
id: HP:0031141
hpo_term: Increased hepatic echogenicity
chpo_term: 肝回声增强
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0000799
hpo_term: Renal steatosis
chpo_term: 肾脂肪变性
id: HP:0005959
hpo_term: Impaired gluconeogenesis
chpo_term: 糖异生功能障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
Disease (OMIM:300518):
Intellectual developmental disorder, X-linked 82
MENTAL RETARDATION, X-LINKED 82

Associated phenotypes (HPO):
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:616827):
MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE
Muscular dystrophy, limb-girdle, type 2W

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0009025
hpo_term: Increased connective tissue
chpo_term: 结缔组织增多
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0030284
hpo_term: Triangular tongue
chpo_term: 三角形舌
id: HP:0006673
hpo_term: Reduced systolic function
chpo_term: 心收缩功能降低
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:600089):
PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS
Pancreatic beta cell agenesis with neonatal diabetes mellitus

Associated phenotypes (HPO):
id: HP:0001438
hpo_term: Abnormal abdomen morphology
chpo_term: 腹部形态结构异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000857
hpo_term: Neonatal insulin-dependent diabetes mellitus
chpo_term: 新生儿胰岛素依赖性糖尿病
Disease (OMIM:609913):
Retinitis pigmentosa 32
RETINITIS PIGMENTOSA 32

Associated phenotypes (HPO):
id: HP:0000550
hpo_term: Undetectable electroretinogram
chpo_term: 视网膜电流图熄灭型
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:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0030609
hpo_term: Photoreceptor layer loss on macular OCT
chpo_term: OCT 测量法黄斑区光感受器细胞层损失
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
Disease (OMIM:620359):
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 7

Associated phenotypes (HPO):
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0032867
hpo_term: Refractory status epilepticus
chpo_term: 难治性癫痫持续状态
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:616833):
PAGET DISEASE OF BONE 6
Paget disease of bone 6

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001677
hpo_term: Coronary artery atherosclerosis
chpo_term: 冠状动脉粥样硬化
Disease (OMIM:613793):
BLOOD GROUP, CROMER SYSTEM
Blood group, cromer system

Associated phenotypes (HPO):
id: HP:0002243
hpo_term: Protein-losing enteropathy
chpo_term: 蛋白丢失性肠病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:607080):
46,XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY
46XY gonadal dysgenesis with minifascicular neuropathy

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000133
hpo_term: Gonadal dysgenesis
chpo_term: 性腺发育不全
id: HP:0006937
hpo_term: Impaired distal tactile sensation
chpo_term: 远端触觉感觉障碍
id: HP:0000815
hpo_term: Hypergonadotropic hypogonadism
chpo_term: 高促性腺激素性性腺功能减退症
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
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:0006886
hpo_term: Impaired distal vibration sensation
chpo_term: 远端振动觉障碍
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:173200):
PITYRIASIS RUBRA PILARIS
Pityriasis rubra pilaris

Associated phenotypes (HPO):
id: HP:0008392
hpo_term: Subungual hyperkeratosis
chpo_term: 甲下角化过度
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0032152
hpo_term: Keratosis pilaris
chpo_term: 毛囊角化症
id: HP:0025114
hpo_term: Hypergranulosis
chpo_term: 颗粒层增厚
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0040162
hpo_term: Orthokeratosis
chpo_term: 正角化
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620417):
SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE
Spastic paraplegia 90B, autosomal recessive

Associated phenotypes (HPO):
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:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002144
hpo_term: Tethered cord
chpo_term: 脊髓栓系
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0034392
hpo_term: Joint contracture
chpo_term: 关节挛缩
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0034353
hpo_term: Appendicular spasticity
chpo_term: 四肢痉挛
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:618188):
Hyperparathyroidism, transient neonatal
HYPERPARATHYROIDISM, TRANSIENT NEONATAL

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0003097
hpo_term: Short femur
chpo_term: 短股骨
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0005054
hpo_term: Metaphyseal spurs
chpo_term: 干骺端骨刺
id: HP:0003194
hpo_term: Short nasal bridge
chpo_term: 短鼻梁
id: HP:0031485
hpo_term: Subperiosteal bone formation
chpo_term: 骨膜下骨形成
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000138
hpo_term: Ovarian cyst
chpo_term: 卵巢囊肿
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0006934
hpo_term: Congenital nystagmus
chpo_term: 先天性眼球震颤
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0030423
hpo_term: Splenic cyst
chpo_term: 脾囊肿
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0010537
hpo_term: Wide cranial sutures
chpo_term: 颅缝增宽
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0034197
hpo_term: Third trimester onset
chpo_term: 孕晚期起病
id: HP:0041159
hpo_term: Fractured rib
chpo_term: 肋骨骨折
id: HP:0010561
hpo_term: Undulate ribs
chpo_term: 波浪状肋骨
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000843
hpo_term: Hyperparathyroidism
chpo_term: 甲状旁腺功能亢进症
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001334
hpo_term: Communicating hydrocephalus
chpo_term: 交通性脑积水
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:611812):
46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs
46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS

Associated phenotypes (HPO):
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0010959
hpo_term: Congenital pulmonary airway malformation
chpo_term: 先天性肺气道畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0005343
hpo_term: Hypoplasia of the bladder
chpo_term: 膀胱发育不良
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0011743
hpo_term: Adrenal gland agenesis
chpo_term: 肾上腺发育缺失
id: HP:0012861
hpo_term: Ovotestis
chpo_term: 卵睾（两性生殖腺）
id: HP:0012245
hpo_term: Sex reversal
chpo_term: 性反转
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0005944
hpo_term: Bilateral lung agenesis
chpo_term: 双肺发育不全
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0004415
hpo_term: Pulmonary artery stenosis
chpo_term: 肺动脉狭窄
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
Disease (OMIM:184850):
STIFF-PERSON SYNDROME
Stiff-Person syndrome

Associated phenotypes (HPO):
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0002267
hpo_term: Exaggerated startle response
chpo_term: 过度惊跳反射
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0007066
hpo_term: Proximal limb muscle stiffness
chpo_term: 近端肢体肌肉僵硬
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0000756
hpo_term: Agoraphobia
chpo_term: 广场恐怖症
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0007156
hpo_term: Asymmetric limb muscle stiffness
chpo_term: 不对称的肢体肌肉僵硬
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0003739
hpo_term: Myoclonic spasms
chpo_term: 肌阵挛性抽搐
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0006921
hpo_term: Axial muscle stiffness
chpo_term: 轴向肌肉僵硬