DiseaseID 26750

高IgM免疫缺陷综合征2型

Immunodeficiency With Hyper-Igm, Type 2

MSH2017_2016_08_12:Hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding activation-induced CYTIDINE DEAMINASE.

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Relationship Network

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Disease: 1Target: 18Links: 24
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Record Fields

Scalar fields from the final disease record.

Disease Id
26750
Core Entity Id
119318
Source Entity Count
1
Preferred Name
Immunodeficiency With Hyper-Igm, Type 2
Name Cn
高IgM免疫缺陷综合征2型
Name Pinyin
Gao Igm Mian Yi Que Xian Zong He Zheng 2 Xing
Name En
Immunodeficiency With Hyper-Igm, 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:Hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding activation-induced CYTIDINE DEAMINASE.
Version
v1
Suppressed
No

Names

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

Name
Immunodeficiency With Hyper-Igm, Type 2
Role
preferred

Cross References

Trusted external identifiers retained for this final record.

Umls
C1720956
Sym Map
SMDE04835
Etcm Disease
Immunodeficiency with Hyper-Igm, Type 2
Itcmdb Generated
ITX-DISEASE-73C42537DDE8

Attributes

Merged source attributes and domain-specific metadata.

Version
v1
Suppress
0
Page Title
Disease Immunodeficiency with Hyper-Igm, Type 2 Details page
Basic Information
Disease Name
Immunodeficiency with Hyper-Igm, Type 2
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Immune diseases
Disease Definition
MSH2017_2016_08_12:Hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding activation-induced CYTIDINE DEAMINASE.