DiseaseID 21377
3-甲基戊烯二酸尿症IV型伴感音神经性耳聋、脑病及Leigh样综合征
disease
SNOMEDCT_US_2016_09_01:A rare autosomal recessive inherited disorder caused by mutations in the SERAC1 gene. Multiple body systems are affected with manifestations including 3-methylglutaconic aciduria, deafness, encepha
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Disease: 1Symptom: 3Target: 5Links: 8
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 21377
- Core Entity Id
- 80079
- Source Entity Count
- 1
- Preferred Name
- 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome
- Name Cn
- 3-甲基戊烯二酸尿症IV型伴感音神经性耳聋、脑病及Leigh样综合征
- Name Pinyin
- 3- Jia Ji Wu Xi Er Suan Niao Zheng Iv Xing Ban Gan Yin Shen Jing Xing Er Long 、 Nao Bing Ji Leigh Yang Zong He Zheng
- Name En
- 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- SNOMEDCT_US_2016_09_01:A rare autosomal recessive inherited disorder caused by mutations in the SERAC1 gene. Multiple body systems are affected with manifestations including 3-methylglutaconic aciduria, deafness, encephalopathy and Leigh-like disease.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS025272
Umls
C4040739
Sym Map
SMDE05249
Dis Ge Net
C4040739
Umls Sty
T047
Tcmbank Disease
28873
Itcmdb Generated
ITX-DISEASE-63C0B6EE18E2
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disease Definition
SNOMEDCT_US_2016_09_01:A rare autosomal recessive inherited disorder caused by mutations in the SERAC1 gene. Multiple body systems are affected with manifestations including 3-methylglutaconic aciduria, deafness, encephalopathy and Leigh-like disease.
Dis Ge Net Disease Type
disease
Umls Semantic Type Name
Disease or Syndrome