DiseaseID 4095
IV型糖原贮积病，经典型肝型
disease
NCI2016_02D:A rare inherited type of glycogen storage disease caused by deficiency of amylo-1,4-1,6 transglucosidase.|MSH2017_2016_08_12:An autosomal recessive metabolic disorder due to a deficiency in expression of glyc
Relationship Network
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Disease: 1Symptom: 6Target: 18Links: 30
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4095
- Core Entity Id
- 60390
- Source Entity Count
- 1
- Preferred Name
- Gsd Iv, Classic Hepatic
- Name Cn
- IV型糖原贮积病，经典型肝型
- Name Pinyin
- Iv Xing Tang Yuan Zhu Ji Bing ， Jing Dian Xing Gan Xing
- Name En
- Gsd Iv, Classic Hepatic
- 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 DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- NCI2016_02D:A rare inherited type of glycogen storage disease caused by deficiency of amylo-1,4-1,6 transglucosidase.|MSH2017_2016_08_12:An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.|CSP2006:autosomal recessive metabolic disorder due to a deficiency in expression of branching enzyme (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal glycogen with long outer branches; clinical features are muscle hypotonia and cirrhosis; death from liver disease usually occurs before age 2.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Gsd Iv, Classic Hepatic
Role
preferred
Name
Glycogen Storage Disease Type Iv
Role
preferred
Name
Gsd Iv, Neuromuscular Form, Childhood
Role
preferred
Name
Gsd Iv, Neuromuscular Form, Congenital
Role
preferred
Name
Gsd Iv, Neuromuscular Form, Fatal Perinatal
Role
preferred
Name
Glycogen Storage Disease Iv
Role
preferred
Name
Glycogen Storage Disease Type VI
Role
preferred
Name
Glycogen Storage Disease Type VII
Role
preferred
Name
Amylopectinosis
Role
alias
Name
Glycogen Storage Disease Vi
Role
alias
Name
Glycogen Storage Disease Vii
Role
alias
Name
Hers Disease
Role
alias
Name
Muscle Phosphofructokinase Deficiency
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001192HBDIS001194HBDIS001195HBDIS017285HBDIS017286HBDIS017287HBDIS017288
Me Sh
D006011D006013D006014
Omim
232500232700232800
Umls
C0017923C1856301C1856302C1856303C1856304C1856305C1856306C2936914
Icd10
E74.09
Sym Map
SMDE04758SMDE09083SMDE09166SMDE09168SMDE09169SMDE09170
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0017923C0017925C0017926C1856301C1856303C1856304C1856305
Umls Sty
T047
Me Sh Class
C05C10C16C18
Etcm Disease
Glycogen Storage Disease Iv
Tcmbank Disease
1378718146245362878831370315614272
Itcmdb Generated
ITX-DISEASE-ACF252DDDC2CITX-DISEASE-C5E0DA3AAFBA
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Page Title
Disease Glycogen Storage Disease Iv Details page
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
Basic Information
Disease Name
Glycogen Storage Disease Iv
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:A rare inherited type of glycogen storage disease caused by deficiency of amylo-1,4-1,6 transglucosidase.|MSH2017_2016_08_12:An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.|CSP2006:autosomal recessive metabolic disorder due to a deficiency in expression of branching enzyme (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal glycogen with long outer branches; clinical features are muscle hypotonia and cirrhosis; death from liver disease usually occurs before age 2.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome