TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:2209):
Hyperphenylalaninemic embryopathy
Phenylketonuric embryopathy
Maternal phenylketonuria syndrome
Maternal hyperphenylalaninemia
Maternal PKU
Maternal phenylketonuria

Associated phenotypes (HPO):
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
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:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0002032
hpo_term: Esophageal atresia
chpo_term: 食管闭锁
id: HP:0002836
hpo_term: Bladder exstrophy
chpo_term: 膀胱外翻
id: HP:0004411
hpo_term: Deviated nasal septum
chpo_term: 鼻中隔偏曲
id: HP:0008589
hpo_term: Hypoplastic helices
chpo_term: 耳轮发育不全
id: HP:0009611
hpo_term: Bifid distal phalanx of the thumb
chpo_term: 拇指末节指骨部分重复
id: HP:0012210
hpo_term: Abnormal renal morphology
chpo_term: 肾形态异常
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
Disease (ORPHA:2206):
Ankylosing vertebral hyperostosis with tylosis

Associated phenotypes (HPO):
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0040163
hpo_term: Abnormal pelvis bone morphology
chpo_term: 盆骨形态异常
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (ORPHA:79238):
GALE deficiency
Epimerase deficiency galactosemia
UDP-galactose-4-epimerase deficiency
Uridine diphosphate galactose-4-epimerase deficiency
Galactosemia type 3
GALE-D
Galactose epimerase deficiency

Associated phenotypes (HPO):
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0004915
hpo_term: Impairment of galactose metabolism
chpo_term: 半乳糖代谢障碍
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
Disease (ORPHA:435804):
Short stature-advanced bone age-early-onset osteoarthritis syndrome

Associated phenotypes (HPO):
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0007281
hpo_term: Developmental stagnation
chpo_term: 发育停滞
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
Disease (ORPHA:300179):
Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness
Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
FKBP14-related EDS
kEDS-FKBP14
Kyphoscoliotic EDS due to FKBP22 deficiency
FKBP22-deficient EDS

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0007502
hpo_term: Follicular hyperkeratosis
chpo_term: 克尔里病，贯穿性角化过度病
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 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:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
id: HP:0012372
hpo_term: Abnormal eye morphology
chpo_term: 眼部形态异常
id: HP:0025019
hpo_term: Arterial rupture
chpo_term: 动脉破裂
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
Disease (ORPHA:46348):
Familial rectal pain
Paroxysmal extreme pain disorder

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
Disease (ORPHA:158061):
Macrophage activation syndrome

Associated phenotypes (HPO):
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
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:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0011118
hpo_term: Abnormality of tumor necrosis factor secretion
chpo_term: 肿瘤坏死因子分泌异常
id: HP:0012156
hpo_term: Hemophagocytosis
chpo_term: 噬血细胞作用
id: HP:0012649
hpo_term: Increased inflammatory response
chpo_term: 炎症反应增强
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0030356
hpo_term: Increased serum interferon-gamma level
chpo_term: 血清干扰素-γ水平增加
id: HP:0011117
hpo_term: Abnormality of interleukin secretion
chpo_term: 白介素分泌异常
id: HP:0030783
hpo_term: Increased circulating interleukin 6 concentration
chpo_term: 循环白细胞介素6水平升高
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0040089
hpo_term: Abnormal natural killer cell count
chpo_term: 自然杀伤细胞数量异常
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0005681
hpo_term: Juvenile rheumatoid arthritis
chpo_term: 幼年类风湿关节炎
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0011900
hpo_term: Hypofibrinogenemia
chpo_term: 低纤维蛋白原血症
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
Disease (ORPHA:79240):
GSD type IXb
Glycogen storage disease type 9B
Glycogenosis type IXb
Glycogenosis due to liver and muscle phosphorylase kinase deficiency
GSD due to liver and muscle phosphorylase kinase deficiency
Glycogen storage disease type IXb
GSD type 9B
Glycogenosis type 9B
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

Associated phenotypes (HPO):
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0003162
hpo_term: Fasting hypoglycemia
chpo_term: 空腹低血糖
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000858
hpo_term: Irregular menstruation
chpo_term: 月经不调
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001947
hpo_term: Renal tubular acidosis
chpo_term: 肾小管性酸中毒
id: HP:0001988
hpo_term: Recurrent hypoglycemia
chpo_term: 反复发作性低血糖
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
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:0003323
hpo_term: Progressive muscle weakness
chpo_term: 进行性肌无力
id: HP:0003325
hpo_term: Limb-girdle muscle weakness
chpo_term: 肢带肌无力
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0003749
hpo_term: Pelvic girdle muscle weakness
chpo_term: 骨盆带肌无力
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012734
hpo_term: Ketotic hypoglycemia
chpo_term: 酮症性低血糖症
id: HP:0100607
hpo_term: Dysmenorrhea
chpo_term: 痛经
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002913
hpo_term: Myoglobinuria
chpo_term: 肌红蛋白尿
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:0004324
hpo_term: Increased body weight
chpo_term: 体重增加
id: HP:0012028
hpo_term: Hepatocellular adenoma
chpo_term: 肝细胞腺瘤
Disease (ORPHA:79241):
Biotinidase deficiency
Juvenile-onset multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency

Associated phenotypes (HPO):
id: HP:0001992
hpo_term: Organic aciduria
chpo_term: 有机酸尿症
id: HP:0005979
hpo_term: Metabolic ketoacidosis
chpo_term: 代谢性酮症酸中毒
id: HP:0410145
hpo_term: Decreased biotinidase level
chpo_term: 生物素酶水平降低
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
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:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0002715
hpo_term: Abnormality of the immune system
chpo_term: 免疫系统异常
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000575
hpo_term: Scotoma
chpo_term: 盲点
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001138
hpo_term: Optic neuropathy
chpo_term: 视神经病变
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002196
hpo_term: Myelopathy
chpo_term: 脊髓病
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0002841
hpo_term: Recurrent fungal infections
chpo_term: 反复真菌感染
id: HP:0002883
hpo_term: Hyperventilation
chpo_term: 过度通气
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0005401
hpo_term: Recurrent candida infections
chpo_term: 反复念珠菌感染
id: HP:0006511
hpo_term: Laryngeal stridor
chpo_term: 喉喘鸣
id: HP:0011153
hpo_term: Focal motor seizure
chpo_term: 局灶性运动性癫痫发作
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0200068
hpo_term: Nonprogressive visual loss
chpo_term: 非进行性视力下降
Disease (ORPHA:79242):
Early-onset multiple carboxylase deficiency
Holocarboxylase synthetase deficiency
Neonatal multiple carboxylase deficiency

Associated phenotypes (HPO):
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001096
hpo_term: Keratoconjunctivitis
chpo_term: 角膜结膜炎
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:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0011127
hpo_term: Perioral eczema
chpo_term: 口周湿疹
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0001992
hpo_term: Organic aciduria
chpo_term: 有机酸尿症
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0007549
hpo_term: Desquamation of skin soon after birth
chpo_term: 出生后皮肤剥脱
Disease (ORPHA:79244):
Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency
Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase E2 deficiency
Pyruvate dehydrogenase complex component E2 deficiency

Associated phenotypes (HPO):
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0100503
hpo_term: Low levels of vitamin B1
chpo_term: 维生素B1缺乏症
id: HP:0500231
hpo_term: Abnormal CSF pyruvate family amino acid concentration
chpo_term: 脑脊液丙酮酸家族氨基酸浓度异常
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
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:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002180
hpo_term: Neurodegeneration
chpo_term: 神经变性
id: HP:0002268
hpo_term: Paroxysmal dystonia
chpo_term: 阵发性肌张力障碍
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0002454
hpo_term: Eye of the tiger anomaly of globus pallidus
chpo_term: 苍白球虎眼征
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0005656
hpo_term: Positional foot deformity
chpo_term: 位置性足畸形
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0025331
hpo_term: Upgaze palsy
chpo_term: 向上凝视麻痹
id: HP:0025335
hpo_term: Delayed ability to stand
chpo_term: 站立能力延迟
id: HP:0031139
hpo_term: Frog-leg posture
chpo_term: 蛙足姿势
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0031960
hpo_term: Arm dystonia
chpo_term: 臂肌张力障碍
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0007994
hpo_term: Peripheral visual field loss
chpo_term: 周边视野缺失
id: HP:0011098
hpo_term: Speech apraxia
chpo_term: 失读症
Disease (ORPHA:420794):
Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome
Cono-spondylar dysplasia

Associated phenotypes (HPO):
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001799
hpo_term: Short nail
chpo_term: 短甲
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002370
hpo_term: Poor coordination
chpo_term: 协调能力下降
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0008093
hpo_term: Short 4th toe
chpo_term: 第四趾短
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0001338
hpo_term: Partial agenesis of the corpus callosum
chpo_term: 局部胼胝体发育不全
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0006385
hpo_term: Short lower limbs
chpo_term: 下肢短
id: HP:0012537
hpo_term: Food intolerance
chpo_term: 食物不耐受
id: HP:0000943
hpo_term: Dysostosis multiplex
chpo_term: 多发性骨发育不全
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0010230
hpo_term: Cone-shaped epiphyses of the phalanges of the hand
chpo_term: 指骨锥形骨骺
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (ORPHA:79246):
PDH phosphatase deficiency
Pyruvate dehydrogenase phosphatase deficiency

Associated phenotypes (HPO):
id: HP:0002928
hpo_term: Decreased activity of the pyruvate dehydrogenase complex
chpo_term: 丙酮酸脱氢酶（PDH）复合物活性降低
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003348
hpo_term: Hyperalaninemia
chpo_term: 高丙氨酸血症
id: HP:0003648
hpo_term: Lacticaciduria
chpo_term: 乳酸血症
id: HP:0008358
hpo_term: Hyperprolinemia
chpo_term: 高脯氨酸血症
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0040328
hpo_term: Focal hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质局灶高信号
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
Disease (ORPHA:35689):
Adult-onset PLS
PLS
Primary lateral sclerosis
Adult-onset primary lateral sclerosis

Associated phenotypes (HPO):
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002127
hpo_term: Abnormal upper motor neuron morphology
chpo_term: 上运动神经元形态异常
id: HP:0002493
hpo_term: Upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍/功能异常
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007034
hpo_term: Generalized hyperreflexia
chpo_term: 广泛性反射亢进
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002200
hpo_term: Pseudobulbar signs
chpo_term: 假性球麻痹症状
id: HP:0002371
hpo_term: Loss of speech
chpo_term: 言语不能
id: HP:0002464
hpo_term: Spastic dysarthria
chpo_term: 痉挛性构音障碍
id: HP:0003444
hpo_term: EMG: chronic denervation signs
chpo_term: 肌电图:慢性失神经支配的征象
id: HP:0007199
hpo_term: Progressive spastic paraparesis
chpo_term: 进行性痉挛性轻瘫
id: HP:0010549
hpo_term: Weakness due to upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍导致的无力
id: HP:0006827
hpo_term: Atrophy of the spinal cord
chpo_term: 脊髓萎缩
id: HP:0007002
hpo_term: Motor axonal neuropathy
chpo_term: 运动轴索性神经病
id: HP:0010873
hpo_term: Cervical spinal cord atrophy
chpo_term: 颈髓萎缩
id: HP:0002366
hpo_term: Abnormal lower motor neuron morphology
chpo_term: 下运动神经元形态异常
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
Disease (ORPHA:499009):
Mother-to-child transmission of syphilis
MTCT of syphilis
Congenital syphilis

Associated phenotypes (HPO):
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001978
hpo_term: Extramedullary hematopoiesis
chpo_term: 髓外造血
id: HP:0006267
hpo_term: Large placenta
chpo_term: 大胎盘
id: HP:0040165
hpo_term: Periostitis
chpo_term: 骨膜炎
id: HP:0040186
hpo_term: Maculopapular exanthema
chpo_term: 斑丘疹样皮疹
id: HP:0040188
hpo_term: Osteochondrosis
chpo_term: 骨软骨炎
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0011092
hpo_term: Mulberry molar
chpo_term: 桑葚状大臼齿
id: HP:0012229
hpo_term: CSF pleocytosis
chpo_term: 脑脊液细胞增多
id: HP:0012384
hpo_term: Rhinitis
chpo_term: 鼻炎
id: HP:0012413
hpo_term: Notched primary central incisor
chpo_term: 乳中切牙缺口
id: HP:0012424
hpo_term: Chorioretinitis
chpo_term: 脉络膜视网膜炎
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
id: HP:0025524
hpo_term: Palmoplantar scaling skin
chpo_term: 掌跖鱼鳞样皮损
id: HP:0033782
hpo_term: Semilunar tooth
chpo_term: 半月形牙
id: HP:0100769
hpo_term: Synovitis
chpo_term: 滑膜炎
id: HP:0430028
hpo_term: Hyperplasia of the maxilla
chpo_term: 上颌骨增生
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
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:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0011120
hpo_term: Concave nasal ridge
chpo_term: 凹鼻嵴