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Diseases

Glycogen Storage Disease Ib

glycogen storage disease ib

Entity Type
Diseases
Relation Groups
3
Relation Preview
24

Basic Information

Grouped by core information, identifiers, and descriptions.

Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.

Core Information

Disease Name
Glycogen Storage Disease Ib
Standard Disease Name
glycogen storage disease ib
MeSH Tree
No data
ICD-10
No data

Identifiers

DO ID
No data
MeSH ID
C562594
OMIM ID
232220
UMLS ID
C0268146
HPO ID
No data

Description and Extensions

Description
NCI2016_02D:Glycogen storage disease type I that is caused by mutations in the SLC37A4 gene. It is characterized by a deficiency of glucose-6-phosphate translocase. It may be associated with neutropenia resulting in recurrent bacterial infections, inflammatory bowel disease, gingivitis, periodontal disease, and mouth ulcers.