DiseaseID 4606
先天性代谢缺陷
group
NCI2016_02D:A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body.|MSH2017_2016_08_12:Errors in metaboli
Relationship Network
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Disease: 1Symptom: 12Target: 12Links: 24
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4606
- Core Entity Id
- 60979
- Source Entity Count
- 1
- Preferred Name
- Inborn Errors of Metabolism
- Name Cn
- 先天性代谢缺陷
- Name Pinyin
- Xian Tian Xing Dai Xie Que Xian
- Name En
- Inborn Errors of Metabolism
- Name Latin
- Bilingual Status
- complete
- Disease Type
- group
- Umls Disease Type
- Disease or Syndrome; Congenital Abnormality
- 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:A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body.|MSH2017_2016_08_12:Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.|CSP2006:errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Inborn Errors of Metabolism
Role
preferred
Name
Inherited Metabolic Disorder
Role
alias
Name
Metabolism, Inborn Errors
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001936
Me Sh
D008661
Umls
C0025521
Sym Map
SMDE09808
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0025521
Umls Sty
T019T047
Me Sh Class
C16C18
Tcmbank Disease
28035
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; Congenital Abnormality
Disease Definition
NCI2016_02D:A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body.|MSH2017_2016_08_12:Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.|CSP2006:errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
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; Congenital Abnormality