01
- 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.
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.
Candidate Herbs
target disease -> ingredient target -> herb ingredient8 Herbs