DiseaseID 25845
糖原贮积症V型
Glycogen Storage Disease V
NCI2016_02D:An autosomal recessive inherited type of glycogen storage disease caused by deficiency of myophosphorylase. It results in myalgias, muscle cramping and stiffness, and exercise intolerance.|MSH2017_2016_08_12:
Relationship Network
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Disease: 1Formula: 12Symptom: 4Target: 18Links: 40
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25845
- Core Entity Id
- 118413
- Source Entity Count
- 1
- Preferred Name
- Glycogen Storage Disease V
- Name Cn
- 糖原贮积症V型
- Name Pinyin
- Tang Yuan Zhu Ji Zheng V Xing
- Name En
- Glycogen Storage Disease V
- 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:An autosomal recessive inherited type of glycogen storage disease caused by deficiency of myophosphorylase. It results in myalgias, muscle cramping and stiffness, and exercise intolerance.|MSH2017_2016_08_12:Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.|CSP2006:glycogenosis due to muscle phosphorylase deficiency; characterized by painful cramps following sustained exercise.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Glycogen Storage Disease V
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0017924
Icd10
E74.04
Sym Map
SMDE00591
Etcm Disease
Glycogen Storage Disease V
Itcmdb Generated
ITX-DISEASE-383BA1782671
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Glycogen Storage Disease V Details page
Basic Information
Disease Name
Glycogen Storage Disease V
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:An autosomal recessive inherited type of glycogen storage disease caused by deficiency of myophosphorylase. It results in myalgias, muscle cramping and stiffness, and exercise intolerance.|MSH2017_2016_08_12:Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.|CSP2006:glycogenosis due to muscle phosphorylase deficiency; characterized by painful cramps following sustained exercise.