Term Name: growth hormone insensitivity syndrome with immune dysregulation 1
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.
Ontology: Human Disease [DOID:0080836]   ( DOID:0080836 )

Relationships
is a type of: autosomal recessive disease syndrome