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Core Information
Disease Name
Vesicoureteral Reflux 2
Standard Disease Name
vesicoureteral reflux 2
MeSH Tree
No data
ICD-10
E74.03
Identifiers
DO ID
No data
MeSH ID
D006010
OMIM ID
232400
UMLS ID
C0017922
HPO ID
No data
Description and Extensions
Description
NCI2016_02D:An autosomal recessive inherited type of glycogen storage disease caused by deficiency of the glycogen debranching enzyme. It results in the accumulation of structurally abnormal glycogen in the heart, skeletal muscles, and/or liver.|MSH2017_2016_08_12:An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.|CSP2006:autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase; clinical course is similar to that of glycogen storage disease type I, but milder; massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age; levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes.
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