Details of Disease

General Information of Disease (ID: DISWMHYX)

Disease Name Hypertrophic cardiomyopathy 16
Synonyms
cardiomyopathy, familial hypertrophic, 16; hypertrophic cardiomyopathy type 16; hypertrophic cardiomyopathy caused by mutation in MYOZ2; cardiomyopathy, familial hypertrophic, type 16; cardiomyopathy, hypertrophic, 16; cardiomyopathy familial hypertrophic 16; CMH16; MYOZ2 hypertrophic cardiomyopathy
Definition Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene.
Disease Hierarchy
DISQG2AI: Hypertrophic cardiomyopathy
DISQ89HN: Familial hypertrophic cardiomyopathy
DISWMHYX: Hypertrophic cardiomyopathy 16
Disease Identifiers
MONDO ID
MONDO_0013455
UMLS CUI
C3151204
OMIM ID
613838
MedGen ID
462554

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MYOZ2 OTMEIQJA Limited Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.