Details of Disease

General Information of Disease (ID: DISOM7UR)

Disease Name Hypogonadotropic hypogonadism 26 with or without anosmia
Synonyms HH26
Disease Hierarchy
DIS8JSKR: Hypogonadotropic hypogonadism
DISOM7UR: Hypogonadotropic hypogonadism 26 with or without anosmia
Disease Identifiers
MONDO ID
MONDO_0030534
UMLS CUI
C5676903
OMIM ID
619718
MedGen ID
1811919

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
TCF12 OTZVONNU Strong Autosomal dominant [1]
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References

1 Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nat Genet. 2013 Mar;45(3):304-7. doi: 10.1038/ng.2531. Epub 2013 Jan 27.