Rare diseases · Sign or symptom
Abnormal female external genitalia morphology
Abnormal female external genitalia
HP:0000055
What it means
Any structural abnormality of the female external genitalia.
Rare diseases that can present with this12
Common30–79%
9- Ablepharon macrostomia syndrome
- Acrodysostosis
- Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Congenital lipoid adrenal hyperplasia due to STAR deficency
- Distal duplication 15q syndrome
- Dubowitz syndrome
- Microcephalic osteodysplastic primordial dwarfism type II
- Vulvovaginal gingival syndrome
The 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: Abnormality of female external genitalia
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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.