DiseaseID 26062
糖原贮积症Ib型
Glycogen Storage Disease Ib
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 recu
Relationship Network
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Disease: 1Herb: 3Symptom: 5Target: 17Links: 32
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26062
- Core Entity Id
- 118630
- Source Entity Count
- 1
- Preferred Name
- Glycogen Storage Disease Ib
- Name Cn
- 糖原贮积症Ib型
- Name Pinyin
- Tang Yuan Zhu Ji Zheng Ib Xing
- Name En
- Glycogen Storage Disease Ib
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- 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.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Glycogen Storage Disease Ib
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0268146
Sym Map
SMDE01760
Etcm Disease
Glycogen Storage Disease Ib
Itcmdb Generated
ITX-DISEASE-71FE90680C00
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Glycogen Storage Disease Ib Details page
Basic Information
Disease Name
Glycogen Storage Disease Ib
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases;Liver diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases
Disease Definition
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.