Mucopolysaccharidosis, Type Vii (MPS7)

Alias:
Mucopolysaccharidosis Type Vii
Beta-Glucuronidase Deficiency
Mucopolysaccharidosis Vii
Sly Syndrome
Mps7
Mucopolysaccharidosis Type 7
Gusb Deficiency
Mps Vii
Mucopolysaccharidosis 7
Sly Disease
Mpsvii
Deficiency of Beta-Glucuronidase
Mps Vii - Sly Syndrome
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
Mucopolysaccharidosis, Type Vii, also known as mucopolysaccharidosis type vii, is related to osteochondrodysplasia and mucopolysaccharidoses. An important gene associated with Mucopolysaccharidosis, Type Vii is GUSB (Glucuronidase Beta), and among its related pathways/superpathways are Infectious disease and Metabolism. The drugs Pharmaceutical Solutions and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include eye and spinal cord, and related phenotypes are intellectual disability and scoliosis.
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
胎儿期
<1/1000000
21
143
60

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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