Details of Disease

General Information of Disease (ID: DIS3RMNZ)

Disease Name Li-Ghorbani-Weisz-Hubshman syndrome
Synonyms LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS; Li-Ghorgani-Weisz-Hubshman syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DIS3RMNZ: Li-Ghorbani-Weisz-Hubshman syndrome
Disease Identifiers
MONDO ID
MONDO_0033547
UMLS CUI
C5436525
OMIM ID
618974
MedGen ID
1763263

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
KAT8 OT5LPQTR Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Histone acetyltransferase KAT8 is essential for mouse oocyte development by regulating reactive oxygen species levels. Development. 2017 Jun 15;144(12):2165-2174. doi: 10.1242/dev.149518. Epub 2017 May 15.