Details of Disease | DrugMAP

General Information of Disease (ID: DISY84HV)

Disease Name	46,XY sex reversal 5
Synonyms	46,XY Sex reversal, Cbx2-related; disorder of Sex development, 46,XY, Cbx2-related; 46,XY gonadal dysgenesis, complete, Cbx2-related; Sex reversal, XY, Cbx2-related; SRXY5; 46,XY SEX reversal 5; 46,XY Sex reversal type 5; 46XY sex reversal 5; 46,XY sex reversal 5
Disease Hierarchy	DISLF3LT: 46,XY complete gonadal dysgenesis DISY84HV: 46,XY sex reversal 5
Disease Identifiers	MONDO ID MONDO_0013120 MESH ID C567766 UMLS CUI C2751317 OMIM ID 613080 MedGen ID 414349

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
CBX2	OTOQ5WS4	Limited	Semidominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.