DiseaseID 25961

中链酰基辅酶A脱氢酶缺乏症

Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of

NCI2016_02D:A genetic disorder characterized by deficiency of the enzyme medium-chain acyl-coenzyme A dehydrogenase that metabolizes medium-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be

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Disease: 1Symptom: 8Target: 3Links: 11
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Record Fields

Scalar fields from the final disease record.

Disease Id
25961
Core Entity Id
118529
Source Entity Count
1
Preferred Name
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Name Cn
中链酰基辅酶A脱氢酶缺乏症
Name Pinyin
Zhong Lian Xian Ji Fu Mei A Tuo Qing Mei Que Fa Zheng
Name En
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
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 genetic disorder characterized by deficiency of the enzyme medium-chain acyl-coenzyme A dehydrogenase that metabolizes medium-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia and lethargy.
Version
v1,v2
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Role
preferred
Source
SymMap_v2
Preferred
Yes

Cross References

Trusted external identifiers retained for this final record.

Umls
C0220710
Icd10
E71.311
Sym Map
SMDE01290

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2
Suppress
0
Disease Definition
NCI2016_02D:A genetic disorder characterized by deficiency of the enzyme medium-chain acyl-coenzyme A dehydrogenase that metabolizes medium-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia and lethargy.