Rare diseases · Sign or symptom
Polycystic ovaries
HP:0000147
Rare diseases that can present with this40
Very common80–99%
12- 46,XX ovotesticular difference of sex development
- 46,XX testicular difference of sex development
- 46,XY complete gonadal dysgenesis
- 46,XY difference of sex development due to isolated 17,20-lyase deficiency
- Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
- Ataxia-telangiectasia
- Bangstad syndrome
- CIDEC-related familial partial lipodystrophy
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
- Infantile systemic hyalinosis
- LIPE-related familial partial lipodystrophy
- XY type gonadal dysgenesis-associated anomalies syndrome
Common30–79%
9- AKT2-related familial partial lipodystrophy
- Autosomal semi-dominant severe lipodystrophic laminopathy
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Familial partial lipodystrophy, Köbberling type
- Fowler urethral sphincter dysfunction syndrome
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Insulin-resistance syndrome type B
- PLIN1-related familial partial lipodystrophy
- Xp22.3microdeletion syndrome
Sometimes5–29%
16- Acquired generalized lipodystrophy
- Alström syndrome
- Bardet-Biedl syndrome
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- Distal deletion 10p syndrome
- Familial partial lipodystrophy, Dunnigan type
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
and 8 more in this range
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, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Polycystic ovary · Polycystic ovary disease · Sclerocystic ovaries
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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.