TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:206594):
Subacute inflammatory demyelinating polyneuropathy
Subacute inflammatory demyelinating polyradiculoneuropathy

Associated phenotypes (HPO):
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0007377
hpo_term: Abnormality of somatosensory evoked potentials
chpo_term: 体感诱发电位异常
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0003447
hpo_term: Axonal loss
chpo_term: 轴突缺失
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0006881
hpo_term: Diffuse peripheral demyelination
chpo_term: 弥漫性周围神经脱髓鞘
id: HP:0007078
hpo_term: Decreased amplitude of sensory action potentials
chpo_term: 感觉动作电位波幅降低
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0007220
hpo_term: Demyelinating motor neuropathy
chpo_term: 脱髓鞘性运动神经病
id: HP:0007262
hpo_term: Symmetric peripheral demyelination
chpo_term: 对称性周围神经脱髓鞘
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001430
hpo_term: Abnormality of the calf musculature
chpo_term: 小腿肌肉异常
id: HP:0002403
hpo_term: Positive Romberg sign
chpo_term: 闭目难立征阳性
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003237
hpo_term: Increased circulating IgG level
chpo_term: 循环IgG水平升高
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0003448
hpo_term: Decreased sensory nerve conduction velocity
chpo_term: 感觉神经传导速度降低
id: HP:0006376
hpo_term: Limited elbow flexion
chpo_term: 屈肘受限
id: HP:0006844
hpo_term: Absent patellar reflexes
chpo_term: 膝反射消失
id: HP:0007230
hpo_term: Decreased distal sensory nerve action potential
chpo_term: 远端感觉神经动作电位降低
id: HP:0008800
hpo_term: Limited hip movement
chpo_term: 髋部运动受限
id: HP:0010505
hpo_term: Limitation of movement at ankles
chpo_term: 踝关节运动受限
id: HP:0012078
hpo_term: Motor conduction block
chpo_term: 运动传导阻滞
id: HP:0032169
hpo_term: Severe infection
chpo_term: 重度感染
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0002270
hpo_term: Abnormality of the autonomic nervous system
chpo_term: 自主神经系统异常
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
Disease (ORPHA:467166):
Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
Tubulinopathy-associated dysgyria

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0002363
hpo_term: Abnormal brainstem morphology
chpo_term: 脑干形态异常
id: HP:0010663
hpo_term: Abnormality of thalamus morphology
chpo_term: 丘脑形态异常
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0012502
hpo_term: Abnormality of the internal capsule
chpo_term: 内囊异常
id: HP:0032398
hpo_term: Dysgyria
chpo_term: 脑回形态异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0012547
hpo_term: Abnormal involuntary eye movements
chpo_term: 不自主眼球运动异常
id: HP:0031882
hpo_term: Agyria
chpo_term: 无脑回畸型
id: HP:0040327
hpo_term: Abnormal morphology of the olfactory bulb
chpo_term: 嗅球形态异常
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
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:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0020214
hpo_term: Startle-induced seizure
chpo_term: 惊吓诱发性癫痫发作
Disease (ORPHA:63446):
Acrocapitofemoral dysplasia

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0001821
hpo_term: Broad nail
chpo_term: 宽甲
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
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:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0002869
hpo_term: Flared iliac wing
chpo_term: 喇叭状髂骨翼
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003300
hpo_term: Ovoid vertebral bodies
chpo_term: 卵形椎体
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003367
hpo_term: Abnormal femoral neck morphology
chpo_term: 股骨颈形态异常
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006059
hpo_term: Cone-shaped metacarpal epiphyses
chpo_term: 掌骨锥形骨骺
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0010579
hpo_term: Cone-shaped epiphysis
chpo_term: 锥形骨骺
Disease (ORPHA:398063):
Refractory sprue
Refractory CD
Refractory celiac disease

Associated phenotypes (HPO):
id: HP:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0011123
hpo_term: Inflammatory abnormality of the skin
chpo_term: 皮肤炎症反应
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0002853
hpo_term: Increased proportion of HLA DR+ T cells
chpo_term: HLA-DR阳性T细胞比例多
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0003075
hpo_term: Hypoproteinemia
chpo_term: 低蛋白血症
id: HP:0002917
hpo_term: Hypomagnesemia
chpo_term: 低镁血症
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0001891
hpo_term: Iron deficiency anemia
chpo_term: 缺铁性贫血
id: HP:0001897
hpo_term: Normocytic anemia
chpo_term: 正细胞性贫血
id: HP:0001972
hpo_term: Macrocytic anemia
chpo_term: 大细胞性贫血
id: HP:0010639
hpo_term: Elevated alkaline phosphatase of bone origin
chpo_term: 骨源性碱性磷酸酶升高
id: HP:0012052
hpo_term: Low serum calcitriol
chpo_term: 低血清骨化三醇（1,25-二羟基胆钙化醇）
id: HP:0025409
hpo_term: Abnormal spleen physiology
chpo_term: 脾脏生理功能异常
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0033143
hpo_term: Jejunitis
chpo_term: 空肠炎
id: HP:0002243
hpo_term: Protein-losing enteropathy
chpo_term: 蛋白丢失性肠病
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
Disease (ORPHA:63442):
ASPED
Angel-shaped phalango-epiphyseal dysplasia

Associated phenotypes (HPO):
id: HP:0004220
hpo_term: Short middle phalanx of the 5th finger
chpo_term: 第五指中节指骨短
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0010034
hpo_term: Short 1st metacarpal
chpo_term: 第一掌骨短
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008843
hpo_term: Hip osteoarthritis
chpo_term: 髋关节骨关节炎
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
Disease (ORPHA:206599):
Isolated asymptomatic hyperCKemia
Idiopathic asymptomatic hyperCKemia
Isolated asymptomatic elevation of creatine phosphokinase

Associated phenotypes (HPO):
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0008331
hpo_term: Elevated creatine kinase after exercise
chpo_term: 运动后肌酸激酶升高
Disease (ORPHA:521219):
Extrinsic biliary compression syndrome
Mirizzi syndrome

Associated phenotypes (HPO):
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0011980
hpo_term: Cholesterol gallstones
chpo_term: 胆固醇性胆结石
id: HP:0040319
hpo_term: Dark urine
chpo_term: 深色尿液
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0011848
hpo_term: Abdominal colic
chpo_term: 腹部绞痛
id: HP:0025143
hpo_term: Chills
chpo_term: 寒栗
id: HP:0410019
hpo_term: Epigastric pain
chpo_term: 上腹部疼痛
id: HP:0030154
hpo_term: Gallbladder perforation
chpo_term: 胆囊穿孔
id: HP:0100889
hpo_term: Abnormality of the ductus choledochus
chpo_term: 胆总管异常
Disease (ORPHA:391417):
MHBD deficiency
HSD10 disease
HSD10 deficiency
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
2-methyl-3-hydroxybutyric aciduria

Associated phenotypes (HPO):
id: HP:0012073
hpo_term: Abnormal urinary acylglycine profile
chpo_term: 尿酰基甘氨酸谱异常
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0040155
hpo_term: Elevated urinary 3-hydroxybutyric acid
chpo_term: 尿3-羟基丁酸水平升高
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0004925
hpo_term: Chronic lactic acidosis
chpo_term: 慢性乳酸酸中毒
id: HP:0006892
hpo_term: Frontotemporal cerebral atrophy
chpo_term: 额颞叶萎缩
id: HP:0007042
hpo_term: Focal white matter lesions
chpo_term: 局灶性脑白质病变
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0012433
hpo_term: Abnormal social behavior
chpo_term: 社会行为异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0002579
hpo_term: Gastrointestinal dysmotility
chpo_term: 胃肠动力障碍
id: HP:0007030
hpo_term: Nonprogressive encephalopathy
chpo_term: 非进行性脑病
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0011470
hpo_term: Nasogastric tube feeding in infancy
chpo_term: 婴儿期鼻胃管饲
Disease (ORPHA:206583):
APBD
Adult polyglucosan body disease

Associated phenotypes (HPO):
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
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:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
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:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002839
hpo_term: Urinary bladder sphincter dysfunction
chpo_term: 膀胱括约肌功能障碍
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:63455):
Paraneoplastic pemphigus

Associated phenotypes (HPO):
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0012191
hpo_term: B-cell lymphoma
chpo_term: B细胞淋巴瘤
id: HP:0100242
hpo_term: Sarcoma
chpo_term: 肉瘤
id: HP:0100522
hpo_term: Thymoma
chpo_term: 胸腺瘤
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
Disease (ORPHA:799):
Schizencephaly

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0002132
hpo_term: Porencephalic cyst
chpo_term: 脑穿通性囊肿
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
Disease (ORPHA:75496):
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
EDS progeroid type 1
EDS with short stature and limb anomalies
spEDS-B4GALT7
B4GALT7-related spondylodysplastic EDS

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000230
hpo_term: Gingivitis
chpo_term: 牙龈炎
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
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:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005328
hpo_term: Progeroid facial appearance
chpo_term: 早衰面容
id: HP:0007469
hpo_term: Palmoplantar cutis gyrata
chpo_term: 掌跖表皮旋纹
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0010511
hpo_term: Long toe
chpo_term: 长脚趾
id: HP:0100813
hpo_term: Testicular torsion
chpo_term: 睾丸扭转
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000987
hpo_term: Atypical scarring of skin
chpo_term: 非典型皮肤瘢痕
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
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:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0006481
hpo_term: Abnormality of primary teeth
chpo_term: 乳牙异常
Disease (ORPHA:750):
Pseudoachondroplasia
Pseudoachondroplastic spondyloepiphyseal dysplasia
Pseudoachondroplastic dysplasia

Associated phenotypes (HPO):
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002663
hpo_term: Delayed epiphyseal ossification
chpo_term: 骨骺骨化延迟
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0002761
hpo_term: Generalized joint laxity
chpo_term: 周身关节松弛
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0005720
hpo_term: Shortening of all metacarpals
chpo_term: 全部掌骨缩短
id: HP:0006149
hpo_term: Increased laxity of fingers
chpo_term: 手指过度松弛
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0010582
hpo_term: Irregular epiphyses
chpo_term: 不规则骨骺
id: HP:0020152
hpo_term: Distal joint laxity
chpo_term: 远端关节松弛
id: HP:0045086
hpo_term: Knee joint hypermobility
chpo_term: 膝关节过度伸展
id: HP:0100531
hpo_term: Wind-swept deformity of the knees
chpo_term: 双膝同向侧弯
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0003090
hpo_term: Hypoplasia of the capital femoral epiphysis
chpo_term: 股骨近端骨骺发育不全
id: HP:0003093
hpo_term: Limited hip extension
chpo_term: 髋关节伸展受限
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
id: HP:0003756
hpo_term: Skeletal myopathy
chpo_term: 骨骼肌病
id: HP:0004236
hpo_term: Irregular carpal bones
chpo_term: 不规则腕骨
id: HP:0004568
hpo_term: Beaking of vertebral bodies
chpo_term: 椎体鸟喙样改变
id: HP:0006460
hpo_term: Increased laxity of ankles
chpo_term: 脚踝松弛度增加
id: HP:0006499
hpo_term: Abnormality of femoral epiphysis
chpo_term: 股骨骨骺异常
id: HP:0008807
hpo_term: Acetabular dysplasia
chpo_term: 髋臼发育不良
id: HP:0008833
hpo_term: Irregular acetabular roof
chpo_term: 不规则髋臼顶
id: HP:0008839
hpo_term: Hypoplastic pelvis
chpo_term: 骨盆发育不良
id: HP:0009107
hpo_term: Abnormal ossification involving the femoral head and neck
chpo_term: 股骨颈和股骨头骨化异常
id: HP:0010579
hpo_term: Cone-shaped epiphysis
chpo_term: 锥形骨骺
id: HP:0010585
hpo_term: Small epiphyses
chpo_term: 小骨骺
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
id: HP:0003311
hpo_term: Hypoplasia of the odontoid process
chpo_term: 齿状突发育不全
id: HP:0010646
hpo_term: Cervical spine instability
chpo_term: 颈椎不稳
Disease (ORPHA:75497):
X-linked Ehlers-Danlos syndrome
EDS V
Ehlers-Danlos syndrome type 5
X-linked EDS

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
Disease (ORPHA:752):
17-ketoreductase deficiency
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
17-beta-hydroxysteroid dehydrogenase 3 deficiency
17-ketosteroidreductase deficiency
46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000037
hpo_term: Male pseudohermaphroditism
chpo_term: 男性假两性畸形
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0025380
hpo_term: Increased circulating androstenedione concentration
chpo_term: 血液雄烯二酮升高
id: HP:0100779
hpo_term: Urogenital sinus anomaly
chpo_term: 泌尿生殖窦异常
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
Disease (ORPHA:424016):
Adenocarcinoma of the anal canal

Associated phenotypes (HPO):
id: HP:0030439
hpo_term: Anal canal adenocarcinoma
chpo_term: 肛管腺癌
id: HP:0002025
hpo_term: Anal stenosis
chpo_term: 肛门狭窄
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002584
hpo_term: Intestinal bleeding
chpo_term: 肠道出血
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002896
hpo_term: Neoplasm of the liver
chpo_term: 肝脏肿瘤
id: HP:0010622
hpo_term: Neoplasm of the skeletal system
chpo_term: 骨骼系统肿瘤
id: HP:0012432
hpo_term: Chronic fatigue
chpo_term: 慢性疲劳
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
id: HP:0002035
hpo_term: Rectal prolapse
chpo_term: 直肠脱垂
id: HP:0100743
hpo_term: Neoplasm of the rectum
chpo_term: 直肠肿瘤
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:424019):
Squamous cell carcinoma of the anal canal

Associated phenotypes (HPO):
id: HP:0030438
hpo_term: Anal canal squamous cell carcinoma
chpo_term: 肛管鳞状细胞癌
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002584
hpo_term: Intestinal bleeding
chpo_term: 肠道出血
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0012740
hpo_term: Papilloma
chpo_term: 乳头状瘤
id: HP:0002025
hpo_term: Anal stenosis
chpo_term: 肛门狭窄
id: HP:0002035
hpo_term: Rectal prolapse
chpo_term: 直肠脱垂
id: HP:0002896
hpo_term: Neoplasm of the liver
chpo_term: 肝脏肿瘤
id: HP:0010622
hpo_term: Neoplasm of the skeletal system
chpo_term: 骨骼系统肿瘤
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
id: HP:0100743
hpo_term: Neoplasm of the rectum
chpo_term: 直肠肿瘤
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡