ovarian dysgenesis 8

Summary
Definition
A 46 XX gonadal dysgenesis that has_material_basis_in heterozygous mutation in the ESR2 gene on chromosome 14q23.
Super Class
46 XX gonadal dysgenesis autosomal dominant disease
Disease Ontology
DOID:0080500
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
13983 Esr2 estrogen receptor 2 (beta)
Displaying 1 entry
Gene ID Gene Symbol Description Source
25149 Esr2 estrogen receptor 2

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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