Details of Disease

General Information of Disease (ID: DISNEDPX)

Disease Name 46,XX sex reversal 3
Synonyms
SRXX3; 46,XX SEX reversal 3; 46,XX Sex reversal, Sox3-related; chromosome Xq26 deletion syndrome; chromosome Xq26 Duplication syndrome; 46,XX Sex reversal type 3; 46,XX sex reversal 3; 46XX sex reversal 3, X-linked dominant
Disease Hierarchy
DISTZBTV: 46,XX testicular disorder of sex development
DISNEDPX: 46,XX sex reversal 3
Disease Identifiers
MONDO ID
MONDO_0010442
UMLS CUI
C3151782
OMIM ID
300833
MedGen ID
463132

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SOX3 OT1CRCOB Definitive X-linked dominant [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.