Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0111772 - 46,XY sex reversal 3


Disease Ontology Definition:A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in NR5A1 on chromosome 9q33.3.

Synonyms: 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure, 46,XY sex reversal, partial or complete, NR5A1-related, SRXY3, disorder of sex development, 46,XY, NR5A1-related, sex reversal, XY, with or without adrenal failure

Referenced OMIM:
OMIM:612965 - 46,XY SEX REVERSAL 3; SRXY3

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : nr5a1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): 46,XY sex reversal (is_a), autosomal dominant disease (is_a)


Xenbase: The Xenopus Model Organism Knowledgebase.
Version: 4.14.0
Major funding for Xenbase is provided by grant P41 HD064556