Rare diseases · Sign or symptom
Gonadal dysgenesis with female appearance, male
HP:0008723
What it means
Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.
Very bad term - try to get rid of it later.
Rare diseases that can present with this4
Very common80–99%
3The 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
Also called: Xy female gonadal dysgenesis
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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.