DiseaseID 11154
先天性代谢性脑病
group
MSH2017_2016_08_12:Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate path
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Disease: 1Symptom: 1Target: 4Links: 5
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 11154
- Core Entity Id
- 68500
- Source Entity Count
- 1
- Preferred Name
- Brain Diseases, Metabolic, Inborn
- Name Cn
- 先天性代谢性脑病
- Name Pinyin
- Xian Tian Xing Dai Xie Xing Nao Bing
- Name En
- Brain Diseases, Metabolic, Inborn
- Name Latin
- Bilingual Status
- complete
- Disease Type
- group
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- group
- Mesh Class
- Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- MSH2017_2016_08_12:Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Brain Diseases, Metabolic, Inborn
Role
preferred
Name
Brain Diseases, Metabolic, Inherited
Role
preferred
Name
Central Nervous System Inborn Metabolic Diseases
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS011541HBDIS011542HBDIS011543
Me Sh
D020739
Umls
C0752109
Sym Map
SMDE06576
Dis Ge Net
C0752107C0752109C0752110
Umls Sty
T047
Me Sh Class
C10C16C18
Tcmbank Disease
158602163229171
Itcmdb Generated
ITX-DISEASE-CB7DF90221B4
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Type
group
Umls Disease Type
Disease or Syndrome
Disease Definition
MSH2017_2016_08_12:Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.
Me Sh Disease Class
Nervous System Diseases; 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; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome