DiseaseID 10722
磷酸甘油酸激酶缺乏症
disease
JABL99:Phosphoglycerate kinase (E.C. 2.7.2.3) deficiency with chronic nonspherocytic hemolytic anemia and variable neurologic and myopathic features in males or occasional hemolysis without any neurological complications
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Disease: 1Symptom: 4Target: 5Links: 9
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 10722
- Core Entity Id
- 67971
- Source Entity Count
- 1
- Preferred Name
- Deficiency of Phosphoglycerate Kinase
- Name Cn
- 磷酸甘油酸激酶缺乏症
- Name Pinyin
- Lin Suan Gan You Suan Ji Mei Que Fa Zheng
- Name En
- Deficiency of Phosphoglycerate Kinase
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- 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
- JABL99:Phosphoglycerate kinase (E.C. 2.7.2.3) deficiency with chronic nonspherocytic hemolytic anemia and variable neurologic and myopathic features in males or occasional hemolysis without any neurological complications. Variability of expression is believed to be due to biochemical properties of PKG variants.|CSP2006:X linked trait causing hemolytic anemia, mental retardation and behavioral and neurologic abnormalities.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Deficiency of Phosphoglycerate Kinase
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS010578
Umls
C0684324
Sym Map
SMDE07757
Dis Ge Net
C0684324
Umls Sty
T047
Me Sh Class
C16C18
Tcmbank Disease
1875
Itcmdb Generated
ITX-DISEASE-BBA1E2235735
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disease Definition
JABL99:Phosphoglycerate kinase (E.C. 2.7.2.3) deficiency with chronic nonspherocytic hemolytic anemia and variable neurologic and myopathic features in males or occasional hemolysis without any neurological complications. Variability of expression is believed to be due to biochemical properties of PKG variants.|CSP2006:X linked trait causing hemolytic anemia, mental retardation and behavioral and neurologic abnormalities.
Me Sh Disease Class
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
Umls Semantic Type Name
Disease or Syndrome