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MIRAGE
ovarian dysgenesis 1

Summary
Definition
A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16.
Super Class
46 XX gonadal dysgenesis autosomal recessive disease
Disease Ontology
DOID:0080493
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2492 FSHR follicle stimulating hormone receptor
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P23945 Follicle-stimulating hormone receptor
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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: August 4, 2025