Search Ontology:
Human Disease

growth hormone insensitivity syndrome with immune dysregulation 1

Term ID
DOID:0080836
Synonyms
Definition
A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21. https://pubmed.ncbi.nlm.nih.gov/16787985/
References
Ontology
Human Disease   ( DOID:0080836 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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