Details of Disease

General Information of Disease (ID: DISQHOEP)

Disease Name Townes-Brocks syndrome 2
Synonyms TBS2; Townes-Brocks syndrome 2
Disease Hierarchy
DISDR57E: Townes-Brocks syndrome
DISQHOEP: Townes-Brocks syndrome 2
Disease Identifiers
MONDO ID
MONDO_0054582
UMLS CUI
C4479534
OMIM ID
617466
MedGen ID
1381939

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
DACT1 OT19Z704 Limited Unknown [1]
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References

1 Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome. Hum Mutat. 2017 Apr;38(4):373-377. doi: 10.1002/humu.23171. Epub 2017 Feb 2.