SH2B3-related immune system disorder
MONDO:1060195Mondo
Findings
No curated finding names SH2B3-related immune system disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A predisposition caused by a mutation in SH2B3 gene that presents with myeloproliferation and/or multi-organ autoimmunity.
Definition from the Mondo Disease Ontology (MONDO:1060195), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SH2B3HGNC:29605
- Definitive · ClinGen · Semidominant · 2025
Where it sits
- A kind of