General Information of Disease (ID: DISIQJUW)

Disease Name Blistering, acantholytic, of oral and laryngeal mucosa
Synonyms ABOLM
Disease Hierarchy
DISYKSRF: Genetic disease
DISIQJUW: Blistering, acantholytic, of oral and laryngeal mucosa
Disease Identifiers
MONDO ID
MONDO_0030986
UMLS CUI
C5543184
OMIM ID
619226
MedGen ID
1785588

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DSG3 TTEO4P8 Limited Unknown [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DSG3 OTGO4GEY Limited Unknown [1]
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References

1 A Homozygous Nonsense Mutation in the DSG3 Gene Causes Acantholytic Blisters in the Oral and?Laryngeal Mucosa. J Invest Dermatol. 2019 May;139(5):1187-1190. doi: 10.1016/j.jid.2018.09.038. Epub 2018 Dec 5.