46,XX disorder of sex development
MONDO:0017576Mondo
Findings
No curated finding names 46,XX disorder of sex development yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures.
Definition from the Mondo Disease Ontology (MONDO:0017576), read 2026-09-29. CC BY 4.0.
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
- Narrower terms (6)
- 46,XX disorder of sex development-anorectal anomalies syndrome
- 46,XX disorder of sex development-skeletal anomalies syndrome
- 46,XX testicular disorder of sex development
- 46,XX true hermaphroditism, SRY-positive
- Michels Caskey syndrome
- palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Other names
4 names
Resolves to: 46,XX disorder of sex development
- Also called
- 46,XX differences of Sex development46,XX disorders of Sex development46,XX DSDfemale pseudohermaphroditism