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growth hormone insensitivity syndrome with immune dysregulation 2
Summary
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0080837
- Mondo Disease Ontology
- OMIM
