X-linked panhypopituitarism

Summary
Synonym
  • PHPX
  • pituitary dwarfism IV
Definition
A panhypopituitarism that has_material_basis_in duplications in the SOX3 gene on chromosome Xq27.1.
Super Class
X-linked monogenic disease panhypopituitarism
Disease Ontology
DOID:0111779
Mondo Disease Ontology
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
20664 Sox1 SRY (sex determining region Y)-box 1

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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