Disease (OMIM:230000):
Fucosidosis
FUCOSIDOSIS

Associated phenotypes (HPO):
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
id: HP:0001014
hpo_term: Angiokeratoma
chpo_term: 血管角皮瘤
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0005453
hpo_term: Absent/hypoplastic paranasal sinuses
chpo_term: 副鼻窦缺如/发育不全
id: HP:0000240
hpo_term: Abnormality of skull size
chpo_term: 颅骨大小异常
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0010729
hpo_term: Cherry red spot of the macula
chpo_term: 黄斑樱桃红斑
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000914
hpo_term: Shield chest
chpo_term: 盾状胸
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001922
hpo_term: Vacuolated lymphocytes
chpo_term: 空泡淋巴细胞
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0004558
hpo_term: Cervical platyspondyly
chpo_term: 扁平颈椎
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0000970
hpo_term: Anhidrosis
chpo_term: 无汗症
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0012067
hpo_term: Glycopeptiduria
chpo_term: 糖肽尿症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0004568
hpo_term: Beaking of vertebral bodies
chpo_term: 椎体鸟喙样改变
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0001552
hpo_term: Barrel-shaped chest
chpo_term: 桶状胸
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0008430
hpo_term: Anterior beaking of lumbar vertebrae
chpo_term: 腰椎前缘鸟喙样凸出
id: HP:0010471
hpo_term: Oligosacchariduria
chpo_term: 寡糖尿症
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0008436
hpo_term: Absent/hypoplastic coccyx
chpo_term: 尾骨缺如或发育不良
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0034727
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004630
hpo_term: Anterior beaking of thoracic vertebrae
chpo_term: 胸椎前缘鸟喙样凸出
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0003300
hpo_term: Ovoid vertebral bodies
chpo_term: 卵形椎体
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0012236
hpo_term: Elevated sweat chloride
chpo_term: 汗液氯化物浓度升高
id: HP:0000943
hpo_term: Dysostosis multiplex
chpo_term: 多发性骨发育不全
id: HP:0000503
hpo_term: Tortuosity of conjunctival vessels
chpo_term: 结膜血管迂曲
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染