DiseaseID 4097
VIII型糖原贮积病
disease
MSH2017_2016_08_12:An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and de
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Disease: 1Symptom: 2Target: 1Links: 3
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4097
- Core Entity Id
- 60393
- Source Entity Count
- 1
- Preferred Name
- Glycogen Storage Disease Type Viii
- Name Cn
- VIII型糖原贮积病
- Name Pinyin
- Viii Xing Tang Yuan Zhu Ji Bing
- Name En
- Glycogen Storage Disease Type Viii
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- MSH2017_2016_08_12:An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.|CSP2006:x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity; symptoms are relatively mild, hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present; liver shrinkage occurs in response to glucagon.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Glycogen Storage Disease Type Viii
Role
preferred
Name
Glycogen Storage Disease Viii
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001196
Me Sh
D006015
Umls
C0017927
Sym Map
SMDE09084
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0017927
Umls Sty
T047
Me Sh Class
C16C18
Tcmbank Disease
23445
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Disease Definition
MSH2017_2016_08_12:An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.|CSP2006:x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity; symptoms are relatively mild, hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present; liver shrinkage occurs in response to glucagon.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or Syndrome