DiseaseID 25771
戊二酰辅酶A脱氢酶缺乏症
Glutaryl-Coa Dehydrogenase Deficiency
Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dyston
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Disease: 1Symptom: 12Target: 2Links: 14
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25771
- Core Entity Id
- 118339
- Source Entity Count
- 1
- Preferred Name
- Glutaryl-Coa Dehydrogenase Deficiency
- Name Cn
- 戊二酰辅酶A脱氢酶缺乏症
- Name Pinyin
- Wu Er Xian Fu Mei A Tuo Qing Mei Que Fa Zheng
- Name En
- Glutaryl-Coa Dehydrogenase 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
- Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dyston
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Glutaryl-Coa Dehydrogenase Deficiency
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0268595
Icd10
E72.3
Sym Map
SMDE00276
Orphanet
25
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dyston