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Repository for lectin-assisted multimodality data
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MIRAGE
growth hormone insensitivity syndrome with immune dysregulation 1
Summary
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0080836
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51692 | Signal transducer and activator of transcription 5B |
