Details of Disease

General Information of Disease (ID: DISQXLQ5)

Disease Name Obesity due to SIM1 deficiency
Disease Hierarchy
DISVH4OT: Inherited obesity
DISQXLQ5: Obesity due to SIM1 deficiency
Disease Identifiers
MONDO ID
MONDO_0018244
UMLS CUI
C5191050
MedGen ID
1680592
Orphanet ID
369873
SNOMED CT ID
783719006

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
SIM1 OTYKFPKZ Supportive Autosomal recessive [1]
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References

1 Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features. J Clin Invest. 2013 Jul;123(7):3037-41. doi: 10.1172/JCI68035. Epub 2013 Jun 17.