DiseaseID 26506
红细胞丙酮酸激酶缺乏症
Pyruvate Kinase Deficiency Of Red Cells
NCI2016_02D:An inherited metabolic disorder characterized by the deficiency of the erythrocyte enzyme pyruvate kinase. It results in the development of hemolytic anemia.|CSP2006:autosomal recessive deficiency of the eryt
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Disease: 1Symptom: 1Target: 3Links: 4
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26506
- Core Entity Id
- 119074
- Source Entity Count
- 1
- Preferred Name
- Pyruvate Kinase Deficiency Of Red Cells
- Name Cn
- 红细胞丙酮酸激酶缺乏症
- Name Pinyin
- Hong Xi Bao Bing Tong Suan Ji Mei Que Fa Zheng
- Name En
- Pyruvate Kinase Deficiency Of Red Cells
- 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:An inherited metabolic disorder characterized by the deficiency of the erythrocyte enzyme pyruvate kinase. It results in the development of hemolytic anemia.|CSP2006:autosomal recessive deficiency of the erythrocytic isozyme of pyruvate kinase, the most common glycolytic enzyme defect in the Embden-Meyerhof pathway; deficient product (ATP) causes chronic hemolytic anemia of widely variable severity.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Pyruvate Kinase Deficiency Of Red Cells
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0340968
Sym Map
SMDE03796
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
NCI2016_02D:An inherited metabolic disorder characterized by the deficiency of the erythrocyte enzyme pyruvate kinase. It results in the development of hemolytic anemia.|CSP2006:autosomal recessive deficiency of the erythrocytic isozyme of pyruvate kinase, the most common glycolytic enzyme defect in the Embden-Meyerhof pathway; deficient product (ATP) causes chronic hemolytic anemia of widely variable severity.