DiseaseID 26302

Danon病

Danon Disease

NCI2016_02D:A genetic metabolic disorder causing hypertrophic cardiomyopathy. Mutations of the LAMP2 gene have been reported in association with this disease.|MSH2017_2016_08_12:An X-linked dominant multisystem disorder

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Disease: 1Symptom: 6Target: 16Links: 30
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Record Fields

Scalar fields from the final disease record.

Disease Id
26302
Core Entity Id
118870
Source Entity Count
1
Preferred Name
Danon Disease
Name Cn
Danon病
Name Pinyin
Danon Bing
Name En
Danon 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
NCI2016_02D:A genetic metabolic disorder causing hypertrophic cardiomyopathy. Mutations of the LAMP2 gene have been reported in association with this disease.|MSH2017_2016_08_12:An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2.
Version
v1,v2
Suppressed
No

Names

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

Name
Danon Disease
Role
preferred

Cross References

Trusted external identifiers retained for this final record.

Umls
C0878677
Sym Map
SMDE02886
Etcm Disease
Danon Disease
Itcmdb Generated
ITX-DISEASE-AE6B8D8DD13B

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2
Suppress
0
Page Title
Disease Danon Disease Details page
Basic Information
Disease Name
Danon Disease
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Definition
NCI2016_02D:A genetic metabolic disorder causing hypertrophic cardiomyopathy. Mutations of the LAMP2 gene have been reported in association with this disease.|MSH2017_2016_08_12:An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2.