DiseaseID 8875
半乳糖代谢障碍
disease
Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
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Disease: 1Formula: 5Herb: 2Symptom: 12Target: 19Links: 43
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 8875
- Core Entity Id
- 65868
- Source Entity Count
- 1
- Preferred Name
- Disorder of Galactose Metabolism
- Name Cn
- 半乳糖代谢障碍
- Name Pinyin
- Ban Ru Tang Dai Xie Zhang Ai
- Name En
- Disorder of Galactose Metabolism
- 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
- Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Disorder of Galactose Metabolism
Role
preferred
Name
Classic Galactosemia
Role
preferred
Name
Galactokinase Deficiency
Role
preferred
Name
Disorders of Galactose Metabolism
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS008062
Umls
C0268151C0268155C0751158
Icd10
E74.2
Sym Map
SMDE00856SMDE02558
Dis Ge Net
C0342745
Orphanet
7923779239
Umls Sty
T047
Etcm Disease
Galactokinase Deficiency
Tcmbank Disease
14573
Itcmdb Generated
ITX-DISEASE-956D0F243B85
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Page Title
Disease Galactokinase Deficiency Details page
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Galactokinase Deficiency
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases
Disease Definition
Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulti
Dis Ge Net Disease Type
disease
Umls Semantic Type Name
Disease or Syndrome