DiseaseID 25869
3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
NCI2016_02D:A rare genetic inherited disorder characterized by inability of the body to process the amino acid leucine. Signs and symptoms include vomiting, dehydration, lethargy, convulsions, and coma.
Relationship Network
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Disease: 1Symptom: 4Target: 15Links: 28
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25869
- Core Entity Id
- 118437
- Source Entity Count
- 1
- Preferred Name
- 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
- Name Cn
- 3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症
- Name Pinyin
- 3- Qiang Ji -3- Jia Ji Wu Er Xian Fu Mei A Lie Jie Mei Que Fa Zheng
- Name En
- 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
- 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:A rare genetic inherited disorder characterized by inability of the body to process the amino acid leucine. Signs and symptoms include vomiting, dehydration, lethargy, convulsions, and coma.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0268601
Sym Map
SMDE00737
Etcm Disease
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Itcmdb Generated
ITX-DISEASE-083F8AE99217
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency Details page
Basic Information
Disease Name
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Liver diseases;Respiratory diseases
Disease Definition
NCI2016_02D:A rare genetic inherited disorder characterized by inability of the body to process the amino acid leucine. Signs and symptoms include vomiting, dehydration, lethargy, convulsions, and coma.