TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:225290):
ECTRODACTYLY-POLYDACTYLY

Associated phenotypes (HPO):
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
Disease (OMIM:620679):
Lipodystrophy, familial partial, type 8
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8

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:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0025383
hpo_term: Dorsocervical fat pad
chpo_term: 颈背部脂肪垫
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001997
hpo_term: Gout
chpo_term: 痛风
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
Disease (OMIM:221790):
DERMATOLEUKODYSTROPHY

Associated phenotypes (HPO):
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0100678
hpo_term: Premature skin wrinkling
chpo_term: 皮肤过早起皱
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0005328
hpo_term: Progeroid facial appearance
chpo_term: 早衰面容
Disease (OMIM:608687):
Spinocerebellar ataxia 20
SPINOCEREBELLAR ATAXIA 20

Associated phenotypes (HPO):
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0010530
hpo_term: Palatal tremor
chpo_term: 腭肌阵挛
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0007338
hpo_term: Hypermetric saccades
chpo_term: 过快扫视
Disease (OMIM:245570):
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
Epilepsy, focal, with speech disorder and with or without mental retardation

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0012557
hpo_term: EEG with centrotemporal focal spike waves
chpo_term: 脑电图伴中央颞区棘波
id: HP:0031491
hpo_term: Continuous spike and waves during slow sleep
chpo_term: 慢波睡眠期持续棘慢波的癫痫
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0011098
hpo_term: Speech apraxia
chpo_term: 失读症
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:251505):
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 4
Microphthalmia, isolated, with coloboma 4

Associated phenotypes (HPO):
id: HP:0001144
hpo_term: Orbital cyst
chpo_term: 眼眶囊肿
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
Disease (OMIM:222500):
DIASTEMATOMYELIA

Associated phenotypes (HPO):
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:617994):
Tumoral calcinosis, hyperphosphatemic, familial, 3
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3

Associated phenotypes (HPO):
id: HP:0025441
hpo_term: Achilles tendon calcification
chpo_term: 跟腱钙化
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:0005450
hpo_term: Calvarial osteosclerosis
chpo_term: 颅骨硬化
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0031415
hpo_term: High serum calcitriol
chpo_term: 血清骨化三醇增高
id: HP:0006051
hpo_term: Metacarpal periosteal thickening
chpo_term: 掌骨骨膜增厚
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0002905
hpo_term: Hyperphosphatemia
chpo_term: 高磷血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000103
hpo_term: Polyuria
chpo_term: 多尿
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0008208
hpo_term: Parathyroid hyperplasia
chpo_term: 甲状旁腺增生
Disease (OMIM:619761):
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM
Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
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:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0030344
hpo_term: Decreased circulating luteinizing hormone level
chpo_term: 循环黄体生成素水平降低
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0030341
hpo_term: Decreased circulating follicle stimulating hormone concentration
chpo_term: 循环卵泡刺激素浓度降低
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:616452):
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-cell expansion with NFKB and T-cell anergy

Associated phenotypes (HPO):
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0410299
hpo_term: Decreased specific antibody response to polysaccharide vaccine
chpo_term: 对多糖疫苗特异性抗体应答降低
id: HP:0034839
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0005404
hpo_term: Increased B cell count
chpo_term: B细胞数量增多
id: HP:0005404
hpo_term: Increased B cell count
chpo_term: B细胞数量增多
Disease (OMIM:610023):
Brachydactyly, coloboma, and anterior segment dysgenesis
BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000659
hpo_term: Peters anomaly
chpo_term: Peters 综合征
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0007700
hpo_term: Ocular anterior segment dysgenesis
chpo_term: 眼球前段发育不全
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
Disease (OMIM:607239):
Deafness, autosomal recessive 33
DEAFNESS, AUTOSOMAL RECESSIVE 33

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:620686):
Premature ovarian failure 23
PREMATURE OVARIAN FAILURE 23

Associated phenotypes (HPO):
id: HP:0033085
hpo_term: Reduced antral follicle count
chpo_term: 窦卵泡减少
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0008222
hpo_term: Female infertility
chpo_term: 女性不孕症
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0008232
hpo_term: Elevated circulating follicle stimulating hormone level
chpo_term: 血液卵泡刺激素水平升高
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0031103
hpo_term: Decreased antimullerian hormone level
chpo_term: 抗苗勒氏管激素水平降低
Disease (OMIM:619007):
RETINITIS PIGMENTOSA 90
Retinitis pigmentosa 90

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
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:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0025158
hpo_term: Hyperautofluorescent retinal lesion
chpo_term: 视网膜自发强荧光病变
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011505
hpo_term: Cystoid macular edema
chpo_term: 囊样黄斑水肿
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0007722
hpo_term: Retinal pigment epithelial atrophy
chpo_term: 视网膜色素上皮萎缩
Disease (OMIM:615629):
DEAFNESS, AUTOSOMAL DOMINANT 56
Deafness, autosomal dominant 56

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:191000):
Trochlea of the humerus, aplasia of
TROCHLEA OF THE HUMERUS, APLASIA OF

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:115300):
Carotenemia, familial
HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0430074
id: HP:0004905
hpo_term: Low levels of vitamin A
chpo_term: 维生素A缺乏症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
Disease (OMIM:619013):
RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2
Rajab interstitial lung disease with brain calcifications 2

Associated phenotypes (HPO):
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0007109
hpo_term: Periventricular cysts
chpo_term: 脑室周围囊肿
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0040075
hpo_term: Hypopituitarism
chpo_term: 垂体功能减退
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0004428
hpo_term: Elfin facies
chpo_term: 小精灵脸
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
Disease (OMIM:609200):
Myopathy, myofibrillar, 3
MYOPATHY, MYOFIBRILLAR, 3

Associated phenotypes (HPO):
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003555
hpo_term: Muscle fiber splitting
chpo_term: 肌纤维分裂
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0100303
hpo_term: Muscle fiber cytoplasmatic inclusion bodies
chpo_term: 肌纤维胞质包涵体
id: HP:0009063
hpo_term: Progressive distal muscle weakness
chpo_term: 进行性远端肌无力
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0003715
hpo_term: Myofibrillar myopathy
chpo_term: 肌原纤维肌病
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0002600
hpo_term: Hyporeflexia of lower limbs
chpo_term: 下肢反射减弱
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
Disease (OMIM:609566):
Parietal foramina 3
PARIETAL FORAMINA 3

Associated phenotypes (HPO):
id: HP:0002697
hpo_term: Parietal foramina
chpo_term: 顶骨孔
id: HP:0007385
hpo_term: Aplasia cutis congenita of scalp
chpo_term: 先天性头皮表皮发育不全
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:300979):
Xq25 duplication syndrome
Xq25 DUPLICATION SYNDROME

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000297
hpo_term: Facial hypotonia
chpo_term: 面部肌张力低下
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
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:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
Disease (OMIM:617980):
ERYTHROCYTOSIS, FAMILIAL, 6
Erythrocytosis 6

Associated phenotypes (HPO):
id: HP:0001900
hpo_term: Increased hemoglobin
chpo_term: 血红蛋白增多
id: HP:0001899
hpo_term: Increased hematocrit
chpo_term: 红细胞压积增高
id: HP:0001901
hpo_term: Polycythemia
chpo_term: 红细胞增多症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619775):
Congenital disorder of deglycosylation 2
CONGENITAL DISORDER OF DEGLYCOSYLATION 2

Associated phenotypes (HPO):
id: HP:0002444
hpo_term: Hypothalamic hamartoma
chpo_term: 下丘脑错构瘤
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000480
hpo_term: Retinal coloboma
chpo_term: 视网膜缺损
id: HP:0002000
hpo_term: Short columella
chpo_term: 鼻小柱短小
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0011265
hpo_term: Cleft earlobe
chpo_term: 耳垂裂
id: HP:0009487
hpo_term: Ulnar deviation of the hand
chpo_term: 手向尺侧偏斜
id: HP:0002816
hpo_term: Genu recurvatum
chpo_term: 膝反屈
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0011802
hpo_term: Hamartoma of tongue
chpo_term: 舌错构瘤
id: HP:0032327
hpo_term: Interhemispheric cyst
chpo_term: 半球间囊肿
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001338
hpo_term: Partial agenesis of the corpus callosum
chpo_term: 局部胼胝体发育不全
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
Disease (OMIM:600224):
SPINOCEREBELLAR ATAXIA 5
Spinocerebellar ataxia 5

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0007286
hpo_term: Horizontal jerk nystagmus
chpo_term: 水平急动性眼球震颤
id: HP:0000317
hpo_term: Facial myokymia
chpo_term: 面肌颤搐
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0001583
hpo_term: Rotary nystagmus
chpo_term: 旋转眼球震颤
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
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:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0007772
hpo_term: Impaired smooth pursuit
chpo_term: 平滑追视障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:614251):
PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
Parkinson disease 18

Associated phenotypes (HPO):
id: HP:0003587
hpo_term: Insidious onset
chpo_term: 隐袭发病
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0100315
hpo_term: Lewy bodies
chpo_term: 路易体
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传