46,XY sex reversal 5 Disease Ontology Browser

Home
Genes
Phenotypes
Human Disease
Expression
Recombinases
Function
Strains / SNPs
Homology
Tumors

About Help FAQ

Search
Download
More Resources
Submit Data
Find Mice (IMSR)
Analysis Tools
Contact Us
Browsers

Disease Ontology Browser

46,XY sex reversal 5 (DOID:0111776)
Alliance: disease page
Synonyms: 46,XY gonadal dysgenesis, complete, CBX2-related; 46,XY sex reversal, CBX2-related; disorder of sex development, 46,XY, CBX2-related; sex reversal, XY, CBX2-related; SRXY5
Alt IDs: OMIM:613080, MESH:C567766
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 homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/09/2024 MGI 6.23