DiseaseID 26499
原发性高草酸尿症III型
Hyperoxaluria, Primary, Type Iii
NCI2016_NICHD_1602D:Recessively inherited primary hyperoxaluria due to mitochondrial 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene mutations.|NCI2016_02D:Recessively inherited primary hyperoxaluria due to mitochondrial
Relationship Network
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Disease: 1Symptom: 3Target: 19Links: 27
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26499
- Core Entity Id
- 119067
- Source Entity Count
- 1
- Preferred Name
- Hyperoxaluria, Primary, Type Iii
- Name Cn
- 原发性高草酸尿症III型
- Name Pinyin
- Yuan Fa Xing Gao Cao Suan Niao Zheng Iii Xing
- Name En
- Hyperoxaluria, Primary, Type Iii
- 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_NICHD_1602D:Recessively inherited primary hyperoxaluria due to mitochondrial 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene mutations.|NCI2016_02D:Recessively inherited primary hyperoxaluria due to mitochondrial 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene mutations.(NICHD)
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hyperoxaluria, Primary, Type Iii
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C3150878
Sym Map
SMDE03763
Etcm Disease
Hyperoxaluria, Primary, Type Iii
Itcmdb Generated
ITX-DISEASE-73D36CDB82AA
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Hyperoxaluria, Primary, Type Iii Details page
Basic Information
Disease Name
Hyperoxaluria, Primary, Type Iii
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases
Disease Definition
NCI2016_NICHD_1602D:Recessively inherited primary hyperoxaluria due to mitochondrial 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene mutations.|NCI2016_02D:Recessively inherited primary hyperoxaluria due to mitochondrial 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene mutations.(NICHD)