Rare diseases · Sign or symptom
Urogenital sinus anomaly
HP:0100779
What it means
A rare birth defect in women where the urethra and vagina both open into a common channel.
Rare diseases that can present with this16
Very common80–99%
6- 46,XX ovotesticular difference of sex development
- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
- 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
- 46,XY ovotesticular difference of sex development
- 46,XY partial gonadal dysgenesis
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
Common30–79%
5The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.