General Information of Disease (ID: DISJAPEG)

Disease Name Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Synonyms
DCWHKTA; dilated cardiomyopathy with wooly hair, keratoderma, and tooth agenesis; dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis; cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Disease Hierarchy
DISQEDXZ: Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
DISJAPEG: Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Disease Identifiers
MONDO ID
MONDO_0014355
UMLS CUI
C4014393
OMIM ID
615821
MedGen ID
862830

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
DSP OTB2MOP8 Strong Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.