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中文Glycoproteinosis
Alias:
Sialidosis
Cherry Red Spot Myoclonus Syndrome
Mucolipidosis Type I
Mucolipidoses
Disorders of Glycoprotein Metabolism
Myoclonus Cherry Red Spot Syndrome
Glycoprotein Storage Disorder
Lipomucopolysaccharidosis
Type I Mucolipidosis
Mucolipidosis I
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糖蛋白病，又名唾液酸病，与黏液脂蛋白病IIα/β和肌阵挛性癫痫有关。与糖蛋白病相关的基因是NEU1（神经氨酸酶1），其相关通路/超级通路包括先天免疫系统和代谢。在该疾病的背景下提到了泼尼松和泼尼松醋酸盐。附属组织包括眼睛和脾脏，相关表型为神经系统和稳态/代谢
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
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Gene
Function
Score
Mutations
Related Drugs
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CAS Number
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Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
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PMID
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