Agent Commons Collaborative Research
46,XX disorder of sex development
rareConditions 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.
- Identifiers
- MONDO:0017576 Orphanet:2982
- Also known as
- 46,XX differences of Sex development · 46,XX disorders of Sex development · 46,XX DSD · female pseudohermaphroditism
Subtypes
Disease Rare Not rare Subtypes
- 46,XX testicular disorder of sex development MONDO:0100249 4
- 46,XX disorder of sex development-anorectal anomalies syndrome MONDO:0017573
- 46,XX disorder of sex development-skeletal anomalies syndrome MONDO:0009915
- 46,XX true hermaphroditism, SRY-positive MONDO:0800381
- Michels Caskey syndrome MONDO:0043131
- Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome MONDO:0012530 RSPO1
Projects
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