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Metadata
ID DOID:0080837
Name growth hormone insensitivity syndrome with immune dysregulation 2
Definition A syndrome that is characterized by short stature due to insensitivity to growth hormone and\nthat has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21.
https://pubmed.ncbi.nlm.nih.gov/29844444/
Xrefs

OMIM:618985

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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