TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:620454):
Congenital disorder of glycosylation, type IIaa
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa

Associated phenotypes (HPO):
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0011954
hpo_term: Nodular regenerative hyperplasia of liver
chpo_term: 肝脏结节性再生性增生
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
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:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0002613
hpo_term: Biliary cirrhosis
chpo_term: 胆汁性肝硬化
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
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:0011649
hpo_term: Patent ductus arteriosus after premature birth
chpo_term: 早产儿动脉导管未闭
id: HP:0005543
hpo_term: Reduced protein C activity
chpo_term: 蛋白C活性减低
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0012021
hpo_term: Persistent patent ductus venosus
chpo_term: 持续性静脉导管未闭
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001976
hpo_term: Reduced antithrombin III activity
chpo_term: 抗凝血酶 III 活性减低
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
Disease (OMIM:614929):
Ectodermal dysplasia 7, Hair/nail type
ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0008391
hpo_term: Dystrophic fingernails
chpo_term: 指甲营养不良
id: HP:0001806
hpo_term: Onycholysis
chpo_term: 甲分离
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000971
hpo_term: Abnormal sweat gland morphology
chpo_term: 汗腺异常
id: HP:0001810
hpo_term: Dystrophic toenail
chpo_term: 趾甲营养不良
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
Disease (OMIM:600974):
Deafness, neurosensory, autosomal recessive 7
DEAFNESS, AUTOSOMAL RECESSIVE 7

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:611879):
CARDIOMYOPATHY, DILATED, 1Z
Cardiomyopathy, dilated, 1Z

Associated phenotypes (HPO):
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:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:247610):
LYMPHOID INTERSTITIAL PNEUMONIA
Lymphoid interstitial pneumonia

Associated phenotypes (HPO):
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0006527
hpo_term: Lymphocytic interstitial pneumonia
chpo_term: 淋巴细胞性间质性肺炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0001648
hpo_term: Cor pulmonale
chpo_term: 肺源性心脏病
Disease (OMIM:162400):
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA
Neuropathy, hereditary sensory and autonomic, type IA

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0002378
hpo_term: Hand tremor
chpo_term: 手部震颤
id: HP:0003387
hpo_term: Decreased number of large peripheral myelinated nerve fibers
chpo_term: 大的周围有髓鞘神经纤维数量减少
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0006858
hpo_term: Impaired distal proprioception
chpo_term: 远端本体感觉障碍
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0006937
hpo_term: Impaired distal tactile sensation
chpo_term: 远端触觉感觉障碍
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0006121
hpo_term: Acral ulceration
chpo_term: 肢端溃疡
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0007267
hpo_term: Chronic axonal neuropathy
chpo_term: 慢性轴索神经病
id: HP:0003409
hpo_term: Distal sensory impairment of all modalities
chpo_term: 远端各种感觉障碍
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0001868
hpo_term: Autoamputation of foot
chpo_term: 足部自发离断
id: HP:0003448
hpo_term: Decreased sensory nerve conduction velocity
chpo_term: 感觉神经传导速度降低
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001886
hpo_term: Foot osteomyelitis
chpo_term: 足骨骨髓炎
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
Disease (OMIM:613908):
SPINOCEREBELLAR ATAXIA 35
Spinocerebellar ataxia 35

Associated phenotypes (HPO):
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
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:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0010831
hpo_term: Impaired proprioception
chpo_term: 本体感觉障碍
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0007024
hpo_term: Pseudobulbar paralysis
chpo_term: 假性球麻痹
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
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:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:621004):
Autoimmune disease with susceptibility to mycobacterium tuberculosis

Associated phenotypes (HPO):
id: HP:0025420
hpo_term: Diffuse alveolar hemorrhage
chpo_term: 弥漫性肺泡出血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0100592
hpo_term: Peritoneal abscess
chpo_term: 腹膜脓肿
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0034063
hpo_term: Anti-islet antigen-2 antibody positivity
chpo_term: 抗胰岛抗原2抗体阳性
id: HP:0034062
hpo_term: Anti-insulin antibody positivity
chpo_term: 抗胰岛素抗体阳性
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002958
hpo_term: Immune dysregulation
chpo_term: 免疫失调
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0020102
hpo_term: Pneumocystis jirovecii pneumonia
chpo_term: 肺孢子菌肺炎
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0200043
hpo_term: Verrucae
chpo_term: 疣
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0410243
hpo_term: Abnormal circulating IgM level
chpo_term: 血液IgM异常
id: HP:0025179
hpo_term: Ground-glass opacification
chpo_term: 毛玻璃样结构
id: HP:0410241
hpo_term: Abnormal circulating IgE level
chpo_term: 血液IgE异常
id: HP:0003261
hpo_term: Increased circulating IgA level
chpo_term: 循环IgA升高
id: HP:6000901
id: HP:0032271
hpo_term: Extrapulmonary tuberculosis
chpo_term: 肺外结核
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003237
hpo_term: Increased circulating IgG level
chpo_term: 循环IgG水平升高
id: HP:0025329
hpo_term: Anti-glutamic acid decarboxylase antibody positivity
chpo_term: 抗谷氨酸脱羧酶抗体阳性
Disease (OMIM:243310):
Baraitser-Winter syndrome 1
BARAITSER-WINTER SYNDROME 1

Associated phenotypes (HPO):
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
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:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0010066
hpo_term: Duplication of phalanx of hallux
chpo_term: 拇趾骨重复
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
Disease (OMIM:609944):
ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVE FACIAL FEATURES
Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
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:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0045074
hpo_term: Thin eyebrow
chpo_term: 细眉
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000968
hpo_term: Ectodermal dysplasia
chpo_term: 外胚层发育不良
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009466
hpo_term: Radial deviation of finger
chpo_term: 手指桡侧偏斜
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001128
hpo_term: Trichiasis
chpo_term: 倒睫
id: HP:0000621
hpo_term: Entropion
chpo_term: 眼睑内翻
Disease (OMIM:618849):
BONE MARROW FAILURE SYNDROME 6
Bone marrow failure syndrome 6

Associated phenotypes (HPO):
id: HP:0030413
hpo_term: Squamous cell carcinoma of the tongue
chpo_term: 舌鳞状细胞癌
id: HP:0011904
hpo_term: Persistence of hemoglobin F
chpo_term: 胎儿血红蛋白F持续存在
id: HP:0031413
hpo_term: Short telomere length
chpo_term: 端粒缩短
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0012432
hpo_term: Chronic fatigue
chpo_term: 慢性疲劳
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0005518
hpo_term: Increased mean corpuscular volume
chpo_term: 平均红细胞体积增加
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
Disease (OMIM:251700):
MICROPHTHALMIA WITH HYPEROPIA, RETINAL DEGENERATION, MACROPHAKIA, AND DENTAL ANOMALIES
Microphthalmia with hyperopia, retinal degeneration, macrophakia,and dental anomalies

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0008499
hpo_term: High hypermetropia
chpo_term: 高度远视
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
Disease (OMIM:605818):
Deafness, autosomal recessive 27
DEAFNESS, AUTOSOMAL RECESSIVE 27

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:614915):
Lethal congenital contracture syndrome 4
LETHAL CONGENITAL CONTRACTURE SYNDROME 4

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0005684
hpo_term: Distal arthrogryposis
chpo_term: 远端关节挛缩
id: HP:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
Disease (OMIM:255200):
MYOPATHY, CENTRONUCLEAR, 2
Myopathy, centronuclear, 2

Associated phenotypes (HPO):
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0003327
hpo_term: Axial muscle weakness
chpo_term: 中轴肌无力
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
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:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
Disease (OMIM:160565):
MYOPATHY, TUBULAR AGGREGATE, 1
Myopathy, tubular aggregate, 1

Associated phenotypes (HPO):
id: HP:0003554
hpo_term: Type 2 muscle fiber atrophy
chpo_term: 2型肌纤维萎缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0009005
hpo_term: Weakness of the intrinsic hand muscles
chpo_term: 手内在肌无力
id: HP:0000615
hpo_term: Abnormal pupil morphology
chpo_term: 瞳孔形态异常
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0007126
hpo_term: Proximal amyotrophy
chpo_term: 近端肌萎缩
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0034392
hpo_term: Joint contracture
chpo_term: 关节挛缩
id: HP:0003738
hpo_term: Exercise-induced myalgia
chpo_term: 运动诱发的肌肉痛
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002522
hpo_term: Areflexia of lower limbs
chpo_term: 下肢反射消失
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0002600
hpo_term: Hyporeflexia of lower limbs
chpo_term: 下肢反射减弱
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
Disease (OMIM:618848):
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26
Muscular dystrophy, limb-girdle, autosomal recessive 26

Associated phenotypes (HPO):
id: HP:0030234
hpo_term: Highly elevated creatine kinase
chpo_term: 肌酸磷酸激酶明显上升
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012548
hpo_term: Fatty replacement of skeletal muscle
chpo_term: 骨骼肌脂肪浸润
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003713
hpo_term: Muscle fiber necrosis
chpo_term: 肌纤维坏死
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:620469):
CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY
Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay

Associated phenotypes (HPO):
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0005216
hpo_term: Impaired mastication
chpo_term: 咀嚼功能受损
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0011476
hpo_term: Profound sensorineural hearing impairment
chpo_term: 极重度感音神经性听力损失
id: HP:0100785
hpo_term: Insomnia
chpo_term: 失眠
id: HP:0011385
hpo_term: Absent internal auditory canal
chpo_term: 无内听道
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0012736
hpo_term: Profound global developmental delay
chpo_term: 严重的全脑发育迟缓
id: HP:0034252
hpo_term: Absent corneal reflex
chpo_term: 角膜反射缺失
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008586
hpo_term: Hypoplasia of the cochlea
chpo_term: 耳蜗发育不全
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
Disease (OMIM:614900):
DIAMOND-BLACKFAN ANEMIA 11
Diamond-Blackfan anemia 11

Associated phenotypes (HPO):
id: HP:0011908
hpo_term: Unilateral radial aplasia
chpo_term: 单侧桡骨发育不良
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0010972
hpo_term: Anemia of inadequate production
chpo_term: 红细胞 生成不足性贫血
id: HP:0009380
hpo_term: Aplasia of the fingers
chpo_term: 手指发育不全
id: HP:0012139
hpo_term: Granulocytic hypoplasia
chpo_term: 粒细胞发育不全
id: HP:0100337
hpo_term: Bilateral cleft palate
chpo_term: 双侧腭裂
id: HP:0034197
hpo_term: Third trimester onset
chpo_term: 孕晚期起病
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0009777
hpo_term: Absent thumb
chpo_term: 拇指缺如
id: HP:0000625
hpo_term: Eyelid coloboma
chpo_term: 眼睑缺损
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0006368
hpo_term: Forearm reduction defects
chpo_term: 前臂缩小缺陷
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合