DiseaseID 26787
先天性全身性脂肪营养不良2型
Lipodystrophy, Congenital Generalized, Type 2
MSH2017_2016_08_12:It is caused by mutation of gene encoding seipin (BSCL2).
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
- 26787
- Core Entity Id
- 119355
- Source Entity Count
- 1
- Preferred Name
- Lipodystrophy, Congenital Generalized, Type 2
- Name Cn
- 先天性全身性脂肪营养不良2型
- Name Pinyin
- Xian Tian Xing Quan Shen Xing Zhi Fang Ying Yang Bu Liang 2 Xing
- Name En
- Lipodystrophy, Congenital Generalized, Type 2
- 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:It is caused by mutation of gene encoding seipin (BSCL2).
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Lipodystrophy, Congenital Generalized, Type 2
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C1720863
Sym Map
SMDE04993
Etcm Disease
Lipodystrophy, Congenital Generalized, Type 2
Itcmdb Generated
ITX-DISEASE-C700697282D7
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Lipodystrophy, Congenital Generalized, Type 2 Details page
Basic Information
Disease Name
Lipodystrophy, Congenital Generalized, Type 2
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Immune diseases;Muscle diseases;Skin diseases
Disease Definition
MSH2017_2016_08_12:It is caused by mutation of gene encoding seipin (BSCL2).