DiseaseID 26824

先天性全身性脂肪营养不良1型

Lipodystrophy, Congenital Generalized, Type 1

MSH2017_2016_08_12:It is caused by mutations of gene encoding 1-acylglycerol-3-phosphate O-acyltransferase-2 (AGPAT2).

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Disease: 1Symptom: 3Target: 16Links: 27
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Record Fields

Scalar fields from the final disease record.

Disease Id
26824
Core Entity Id
119392
Source Entity Count
1
Preferred Name
Lipodystrophy, Congenital Generalized, Type 1
Name Cn
先天性全身性脂肪营养不良1型
Name Pinyin
Xian Tian Xing Quan Shen Xing Zhi Fang Ying Yang Bu Liang 1 Xing
Name En
Lipodystrophy, Congenital Generalized, Type 1
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 mutations of gene encoding 1-acylglycerol-3-phosphate O-acyltransferase-2 (AGPAT2).
Version
v1,v2
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Lipodystrophy, Congenital Generalized, Type 1
Role
preferred

Cross References

Trusted external identifiers retained for this final record.

Umls
C1720862
Sym Map
SMDE05153
Etcm Disease
Lipodystrophy, Congenital Generalized, Type 1
Itcmdb Generated
ITX-DISEASE-350AA7CD8E4BITX-DISEASE-861DA853189E

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2
Suppress
0
Page Title
Disease Lipodystrophy, Congenital Generalized, Type 1 Details page
Basic Information
Disease Name
Lipodystrophy, Congenital Generalized, Type 1
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 mutations of gene encoding 1-acylglycerol-3-phosphate O-acyltransferase-2 (AGPAT2).