Details of Disease

General Information of Disease (ID: DIST2XAU)

Disease Name Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISYKSRF: Genetic disease
DIST2XAU: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Disease Identifiers
MONDO ID
MONDO_0017994
UMLS CUI
C5190989
MedGen ID
1674241
Orphanet ID
329249
SNOMED CT ID
783556000

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
SH2B1 OTJZO2CI Moderate Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.