Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0080837 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models