DiseaseID 8277
先天性糖基化障碍
group
NCI2016_02D:An autosomal recessive disorder of carbohydrate metabolism. It is characterized by psychomotor retardation, growth retardation, ataxia, seizures, hepatomegaly with steatosis and hypothyroidism.|MSH2017_2016_0
Relationship Network
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Disease: 1Symptom: 7Target: 12Links: 19
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 8277
- Core Entity Id
- 65191
- Source Entity Count
- 1
- Preferred Name
- Congenital Disorders of Glycosylation
- Name Cn
- 先天性糖基化障碍
- Name Pinyin
- Xian Tian Xing Tang Ji Hua Zhang Ai
- Name En
- Congenital Disorders of Glycosylation
- Name Latin
- Bilingual Status
- complete
- Disease Type
- group
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- group
- 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
- NCI2016_02D:An autosomal recessive disorder of carbohydrate metabolism. It is characterized by psychomotor retardation, growth retardation, ataxia, seizures, hepatomegaly with steatosis and hypothyroidism.|MSH2017_2016_08_12:A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Congenital Disorders of Glycosylation
Role
preferred
Name
Congenital Disorder of Glycosylation
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS007259
Me Sh
D018981
Umls
C0282577
Sym Map
SMDE07451
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0282577
Umls Sty
T047
Me Sh Class
C16C18
Tcmbank Disease
2111
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Do Class Name
disease of metabolism; genetic disease
Disease Type
group
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:An autosomal recessive disorder of carbohydrate metabolism. It is characterized by psychomotor retardation, growth retardation, ataxia, seizures, hepatomegaly with steatosis and hypothyroidism.|MSH2017_2016_08_12:A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
group
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or Syndrome