DiseaseID 5025

嘌呤-嘧啶代谢先天性异常

group

MSH2017_2016_08_12:Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero.|CSP2006:condition in which there is a deviation or interruption

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Relationship Network

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Disease: 1Symptom: 4Target: 12Links: 16
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Record Fields

Scalar fields from the final disease record.

Disease Id
5025
Core Entity Id
61463
Source Entity Count
1
Preferred Name
Purine-Pyrimidine Metabolism, Inborn Errors
Name Cn
嘌呤-嘧啶代谢先天性异常
Name Pinyin
Piao Ling - Mi Ding Dai Xie Xian Tian Xing Yi Chang
Name En
Purine-Pyrimidine Metabolism, Inborn Errors
Name Latin
Bilingual Status
complete
Disease Type
group
Umls Disease Type
Disease or Syndrome
Disgenet Type
group
Mesh Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Do Class
Hpo Class
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Hpo Class Name
Do Class Name
Disease Definition
MSH2017_2016_08_12:Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero.|CSP2006:condition in which there is a deviation or interruption in the processing of purine or pyrmidine in the body: its absorption, transport, storage, and utilization.
Version
v2
Suppressed
No

Names

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

Name
Purine-Pyrimidine Metabolism, Inborn Errors
Role
preferred
Name
Disorder of Purine And Pyrimidine Metabolism, Unspecified
Role
alias
Name
Disorders of Purine And Pyrimidine Metabolism
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS002547
Me Sh
D011686
Umls
C0034139
Icd10
E79E79.9
Sym Map
SMDE12615
Dis Ge Net
C0034139
Umls Sty
T047
Me Sh Class
C16C18
Tcmbank Disease
13233

Attributes

Merged source attributes and domain-specific metadata.

Version
v2
Suppress
0
Disease Type
group
Umls Disease Type
Disease or Syndrome
Disease Definition
MSH2017_2016_08_12:Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero.|CSP2006:condition in which there is a deviation or interruption in the processing of purine or pyrmidine in the body: its absorption, transport, storage, and utilization.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
group
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or Syndrome