Details of Disease

General Information of Disease (ID: DISMUNZZ)

Disease Name 46,XX sex reversal 4
Synonyms 46,XX SEX reversal 4; SRXX4; 46,XX Sex reversal, Sry-Negative; 46, XX sex reversal 4
Disease Hierarchy
DISTZBTV: 46,XX testicular disorder of sex development
DISMUNZZ: 46,XX sex reversal 4
Disease Identifiers
MONDO ID
MONDO_0060489
UMLS CUI
C4479552
OMIM ID
617480
MedGen ID
1373282

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
NR5A1 OTOULYR4 Strong Autosomal dominant [1]
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References

1 NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. Genet Med. 2017 Apr;19(4):367-376. doi: 10.1038/gim.2016.118. Epub 2016 Aug 4.