TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:146200):
HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1
Hypoparathyroidism, familial isolated

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0002199
hpo_term: Hypocalcemic seizures
chpo_term: 低钙发作
id: HP:0031817
hpo_term: Decreased circulating parathyroid hormone level
chpo_term: 甲状旁腺激素水平降低
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001281
hpo_term: Tetany
chpo_term: 手足抽搐
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0031990
hpo_term: Chvostek sign
chpo_term: 面神经叩击征
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:0025303
hpo_term: Episodic
chpo_term: 不规则复发的
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:601462):
Myasthenic syndrome, congenital, 1A, slow-channel
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL

Associated phenotypes (HPO):
id: HP:0005216
hpo_term: Impaired mastication
chpo_term: 咀嚼功能受损
id: HP:0003554
hpo_term: Type 2 muscle fiber atrophy
chpo_term: 2型肌纤维萎缩
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0003473
hpo_term: Fatigable weakness
chpo_term: 疲劳性肌无力
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0008954
hpo_term: Intrinsic hand muscle atrophy
chpo_term: 手部内在肌萎缩
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003443
hpo_term: Decreased size of nerve terminals
chpo_term: 神经终板缩小
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0030208
hpo_term: Anti-acetylcholine receptor antibody positivity
chpo_term: 抗乙酰胆碱受体抗体阳性
id: HP:0025709
hpo_term: Intermediate young adult onset
chpo_term: 青年成人中期起病
id: HP:0009130
hpo_term: Hand muscle atrophy
chpo_term: 手部肌肉萎缩
id: HP:0009113
hpo_term: Diaphragmatic weakness
chpo_term: 膈肌无力
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0004889
hpo_term: Intermittent episodes of respiratory insufficiency due to muscle weakness
chpo_term: 肌无力所致的间歇性呼吸功能不全发作
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003436
hpo_term: Prolonged miniature endplate currents
chpo_term: 微终板电流延长
Disease (OMIM:608320):
Coronary artery disease, autosomal dominant, 1
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1

Associated phenotypes (HPO):
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0005181
hpo_term: Premature coronary artery atherosclerosis
chpo_term: 早发性冠心病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (OMIM:212400):
Cataract and congenital ichthyosis
CATARACT AND CONGENITAL ICHTHYOSIS

Associated phenotypes (HPO):
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0007431
hpo_term: Congenital ichthyosiform erythroderma
chpo_term: 先天性鱼鳞病样红皮病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:616491):
Charcot-Marie-Tooth disease, axonal, type 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0012514
hpo_term: Lower limb pain
chpo_term: 下肢疼痛
id: HP:0010871
hpo_term: Sensory ataxia
chpo_term: 感觉性共济失调
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:265850):
PYGMY

Associated phenotypes (HPO):
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
Disease (OMIM:615198):
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA
Osteosclerotic metaphyseal dysplasia

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0004576
hpo_term: Sclerotic vertebral endplates
chpo_term: 椎体终板硬化
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
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:0100255
hpo_term: Metaphyseal dysplasia
chpo_term: 干骺端发育不良
id: HP:0100923
hpo_term: Clavicular sclerosis
chpo_term: 锁骨硬化
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0100959
hpo_term: Dense metaphyseal bands
chpo_term: 干骺端致密带
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:614286):
Myelodysplastic syndrome
MYELODYSPLASTIC SYNDROME

Associated phenotypes (HPO):
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
Disease (OMIM:216100):
Cleft lip/palate with abnormal thumbs and microcephaly
JUBERG-HAYWARD SYNDROME

Associated phenotypes (HPO):
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003995
hpo_term: Abnormality of the radial head
chpo_term: 桡骨小头异常
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001780
hpo_term: Abnormality of toe
chpo_term: 脚趾异常
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0001191
hpo_term: Abnormal carpal morphology
chpo_term: 腕骨形态异常
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
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:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0009601
hpo_term: Aplasia/Hypoplasia of the thumb
chpo_term: 拇指发育不全或发育不良
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
Disease (OMIM:611498):
Nephronophthisis 7
NEPHRONOPHTHISIS 7

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000090
hpo_term: Nephronophthisis
chpo_term: 肾结核
id: HP:0000092
hpo_term: Renal tubular atrophy
chpo_term: 肾小管萎缩
Disease (OMIM:601853):
Gomez-Lopez-Hernandez syndrome
GOMEZ-LOPEZ-HERNANDEZ SYNDROME

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0007302
hpo_term: Bipolar affective disorder
chpo_term: 双相情感障碍
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0002678
hpo_term: Skull asymmetry
chpo_term: 头骨不对称
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0002335
hpo_term: Agenesis of cerebellar vermis
chpo_term: 小脑蚓部发育不全
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0006899
hpo_term: Fusion of the cerebellar hemispheres
chpo_term: 小脑半球融合
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0031912
hpo_term: Trigeminal anesthesia
chpo_term: 三叉神经麻醉
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0031913
hpo_term: Rhombencephalosynapsis
chpo_term: 菱形脑突触
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
Disease (OMIM:601847):
Cholestasis, progressive familial intrahepatic 2
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002630
hpo_term: Fat malabsorption
chpo_term: 脂肪吸收障碍
id: HP:0001046
hpo_term: Intermittent jaundice
chpo_term: 间歇性黄疸
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
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:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001406
hpo_term: Intrahepatic cholestasis
chpo_term: 肝内胆汁淤积
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
Disease (OMIM:168300):
Paramyotonia congenita
PARAMYOTONIA CONGENITA OF VON EULENBURG

Associated phenotypes (HPO):
id: HP:0005348
hpo_term: Inspiratory stridor
chpo_term: 吸气性喘鸣
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0011809
hpo_term: Paradoxical myotonia
chpo_term: 反常性肌强直
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012899
hpo_term: Handgrip myotonia
chpo_term: 抓握性肌强直
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
id: HP:0010548
hpo_term: Percussion myotonia
chpo_term: 敲击性肌强直
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
Disease (OMIM:300004):
Corpus callosum, agenesis of, with abnormal genitalia
CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA

Associated phenotypes (HPO):
id: HP:0000187
hpo_term: Broad alveolar ridges
chpo_term: 宽牙槽嵴
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001795
hpo_term: Hyperconvex nail
chpo_term: 甲异常凸起
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:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0001090
hpo_term: Abnormally large globe
chpo_term: 大眼球
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003121
hpo_term: Limb joint contracture
chpo_term: 肢体关节挛缩
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
id: HP:0006887
hpo_term: Intellectual disability, progressive
chpo_term: 进行性智力障碍
Disease (OMIM:620651):
Diabetes, deafness, developmental delay, and short stature syndrome
DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
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:0034323
hpo_term: Reduced circulating growth hormone concentration
chpo_term: 循环生长激素水平降低
id: HP:0040075
hpo_term: Hypopituitarism
chpo_term: 垂体功能减退
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
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:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0031098
hpo_term: Decreased thyroid-stimulating hormone level
chpo_term: 促甲状腺激素水平降低
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
Disease (OMIM:180870):
Ruvalcaba syndrome
RUVALCABA SYNDROME

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000460
hpo_term: Narrow nose
chpo_term: 鼻缩窄
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000769
hpo_term: Abnormality of the breast
chpo_term: 乳房异常
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
Disease (OMIM:614292):
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION
Myopia, high, with cataract and vitreoretinal degeneration

Associated phenotypes (HPO):
id: HP:0001132
hpo_term: Lens subluxation
chpo_term: 晶状体半脱位
id: HP:0100832
hpo_term: Vitreous floaters
chpo_term: 玻璃体漂浮物
id: HP:0200071
hpo_term: Peripheral vitreoretinal degeneration
chpo_term: 周边玻璃体视网膜变性
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007992
hpo_term: Lattice retinal degeneration
chpo_term: 格子样视网膜变性
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0032037
hpo_term: Mildly reduced visual acuity
chpo_term: 轻度视力降低
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
Disease (OMIM:620137):
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11
Mitochondrial complex III deficiency, nuclear type 11

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0011924
hpo_term: Decreased activity of mitochondrial complex III
chpo_term: 线粒体复合物III活性降低
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
Disease (OMIM:612813):
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE
Spondyloepimetaphyseal dysplasia, Aggrecan type

Associated phenotypes (HPO):
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002651
hpo_term: Spondyloepimetaphyseal dysplasia
chpo_term: 脊椎干骺端发育不良
id: HP:0001552
hpo_term: Barrel-shaped chest
chpo_term: 桶状胸
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0005285
hpo_term: Absent nasal bridge
chpo_term: 无鼻梁
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0010582
hpo_term: Irregular epiphyses
chpo_term: 不规则骨骺
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:4000007
hpo_term: Bronchoconstriction
chpo_term: 支气管收缩
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
Disease (OMIM:618480):
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT
Neurodevelopmental disorder with seizures and speech and walking impairment

Associated phenotypes (HPO):
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: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:0011856
hpo_term: Pica
chpo_term: 异食癖
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0100602
hpo_term: Preeclampsia
chpo_term: 先兆子痫
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
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:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0100023
hpo_term: Recurrent hand flapping
chpo_term: 反复用手拍打
id: HP:0100876
hpo_term: Infra-orbital crease
chpo_term: 下睑皱纹
id: HP:0034210
hpo_term: Fetal intraventricular hemorrhage
chpo_term: 胎儿脑室内出血
id: HP:0010880
hpo_term: Increased nuchal translucency
chpo_term: 颈部透明层厚度增加
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:176670):
Hutchinson-Gilford progeria syndrome
HUTCHINSON-GILFORD PROGERIA SYNDROME

Associated phenotypes (HPO):
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0040160
hpo_term: Generalized osteoporosis
chpo_term: 全身性骨质疏松症
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0005181
hpo_term: Premature coronary artery atherosclerosis
chpo_term: 早发性冠心病
id: HP:0007485
hpo_term: Absence of subcutaneous fat
chpo_term: 皮下脂肪缺如
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0004416
hpo_term: Precocious atherosclerosis
chpo_term: 早发性动脉粥样硬化
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解