Metadata | |
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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 | |
Parent Relationships |
is_a syndrome |