growth hormone insensitivity syndrome with immune dysregulation 2

Term ID

DOID:0080837

Synonyms

Definition

A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21. https://pubmed.ncbi.nlm.nih.gov/29844444/

References

• OMIM:618985

Ontology

Human Disease   ( DOID:0080837 )