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Metadata
ID DOID:0080836
Name growth hormone insensitivity syndrome with immune dysregulation 1
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/
Xrefs

GARD:3924

OMIM:245590

ORDO:220465

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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