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Standards Ontologies Notations
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
Disease Ontology
DOID:0080836
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
6776 STAT5A signal transducer and activator of transcription 5A
6777 STAT5B signal transducer and activator of transcription 5B
Displaying all 2 entries
Gene ID Gene Symbol Description Source
20850 Stat5a signal transducer and activator of transcription 5A
20851 Stat5b signal transducer and activator of transcription 5B
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024