ovarian dysgenesis 6

Summary
Definition
A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the NUP107 gene on chromosome 12q15.
Super Class
46 XX gonadal dysgenesis autosomal recessive disease
Disease Ontology
DOID:0080498
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
57122 NUP107 nucleoporin 107
Displaying 1 entry
Gene ID Gene Symbol Description Source
103468 Nup107 nucleoporin 107

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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