DiseaseID 26742
半乳糖血症
Galactosemia
NCI2016_02D:An inherited metabolic disorder characterized by increased levels of galactose in the blood. Clinical signs include failure to thrive, developmental delays, liver damage and jaundice, cataract, and ovarian fa
Relationship Network
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Disease: 1Symptom: 7Target: 17Links: 31
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26742
- Core Entity Id
- 119310
- Source Entity Count
- 1
- Preferred Name
- Galactosemia
- Name Cn
- 半乳糖血症
- Name Pinyin
- Ban Ru Tang Xue Zheng
- Name En
- Galactosemia
- 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 increased levels of galactose in the blood. Clinical signs include failure to thrive, developmental delays, liver damage and jaundice, cataract, and ovarian failure.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Galactosemia
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C3278146
Sym Map
SMDE04801
Etcm Disease
Galactosemia
Itcmdb Generated
ITX-DISEASE-9D714DC9A128
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Galactosemia Details page
Basic Information
Disease Name
Galactosemia
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Eye diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Reproductive diseases
Disease Definition
NCI2016_02D:An inherited metabolic disorder characterized by increased levels of galactose in the blood. Clinical signs include failure to thrive, developmental delays, liver damage and jaundice, cataract, and ovarian failure.