DiseaseID 29181
先天性遗传病
Inborn Genetic Disease
MSH2017_2016_08_12:Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may
Relationship Network
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Disease: 1Symptom: 10Target: 12Links: 22
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 29181
- Core Entity Id
- 121749
- Source Entity Count
- 1
- Preferred Name
- Inborn Genetic Disease
- Name Cn
- 先天性遗传病
- Name Pinyin
- Xian Tian Xing Yi Chuan Bing
- Name En
- Inborn Genetic Disease
- 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
- MSH2017_2016_08_12:Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Inborn Genetic Disease
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Me Sh
D030342
Umls
C0950123
Sym Map
SMDE09809
Itcmdb Generated
ITX-DISEASE-11518FDD233D
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Definition
MSH2017_2016_08_12:Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.