Details of Disease

General Information of Disease (ID: DIS3JOYX)

Disease Name Mucocutaneous ulceration, chronic
Synonyms CMCU; MUCOCUTANEOUS ULCERATION, CHRONIC
Disease Hierarchy
DISYKSRF: Genetic disease
DIS3JOYX: Mucocutaneous ulceration, chronic
Disease Identifiers
MONDO ID
MONDO_0032659
UMLS CUI
C4748997
OMIM ID
618287
MedGen ID
1648375

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
RELA OTUJP9CN Strong Autosomal dominant [1]
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References

1 Neonatal High Bone Mass With First Mutation of the NF-B Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65). J Bone Miner Res. 2016 Jan;31(1):163-72. doi: 10.1002/jbmr.2590. Epub 2015 Aug 6.