ovarian dysgenesis 2
MONDO:0010349Mondo
Findings
No curated finding names ovarian dysgenesis 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene.
Definition from the Mondo Disease Ontology (MONDO:0010349), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Delayed pubertyHPOHP:0000823
- 2 of 2 reported patients
- HirsutismHPOHP:0001007
- 2 of 2 reported patients
- Hypergonadotropic hypogonadismHPOHP:0000815
- 2 of 2 reported patients
- Hypoplasia of the uterusHPOHP:0000013
- 2 of 2 reported patients
- Primary amenorrheaHPOHP:0000786
- 2 of 2 reported patients
- Streak ovaryHPOHP:0010464
- 2 of 2 reported patients
- Premature ovarian insufficiencyHPOHP:0008209
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- BMP15HGNC:1068
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Moderate · Ambry Genetics · Autosomal dominant · 2020
- Moderate · Ambry Genetics · X-linked · 2024
Where it sits
- A kind of
Other names
3 names
Resolves to: ovarian dysgenesis 2
- Also called
- BMP15 primary ovarian failureovarian dysgenesis type 2primary ovarian failure caused by mutation in BMP15