DiseaseID 17159

混合性D-2-和L-2-羟基戊二酸尿症

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Disease: 1Symptom: 6Target: 21Links: 30
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Record Fields

Scalar fields from the final disease record.

Disease Id
17159
Core Entity Id
75341
Source Entity Count
1
Preferred Name
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Name Cn
混合性D-2-和L-2-羟基戊二酸尿症
Name Pinyin
Hun He Xing D-2- He L-2- Qiang Ji Wu Er Suan Niao Zheng
Name En
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Do Class
genetic disease; disease of metabolism
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 of metabolism; genetic disease
Disease Definition
Version
v1,v2
Suppressed
No

Names

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

Name
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Role
preferred
Name
2-Hydroxyglutaric Aciduria
Role
alias
Name
D2L2AD
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS019739
Omim
615182
Umls
C2746066
Sym Map
SMDE04391
Do Class
DOID:0014667DOID:630
Dis Ge Net
C2746066
Umls Sty
T047
Me Sh Class
C10C16C18
Etcm Disease
Combined D-2- and L-2-Hydroxyglutaric Aciduria
Tcmbank Disease
28872
Itcmdb Generated
ITX-DISEASE-A454A6E4E810

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2
Suppress
0
Page Title
Disease Combined D-2- and L-2-Hydroxyglutaric Aciduria Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Combined D-2- and L-2-Hydroxyglutaric Aciduria
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Muscle diseases;Neuronal diseases
Me Sh Disease Class
Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
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