Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

oocyte maturation defect 9 (OOMD9) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oocyte maturation defect 9

MONDO:0033565

Also known as:OOMD9

Overview

GeneticsAutosomal recessive · TRIP13 (chr 5)

Clinical Presentation

Features include always present findings: Female infertility; and common findings: Metaphase I oocyte maturation arrest. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	1	Female infertility

Explore clinical features

Genetic Landscape

TRIP13 function has not been fully characterized.

Oocyte maturation defect 9 is associated with mutations in the TRIP13 gene on chromosome 5.

Diagnosis

Genetic testing for TRIP13 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for oocyte maturation defect 9.

23 publications have been identified in PubMed for oocyte maturation defect 9. Research spans Basic Science / Preclinical (65%), Epidemiology / Natural History (15%), and Review / Meta-Analysis (10%).

Research Type	Count	% of Total
Laboratory research	13	65%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 1:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619011

GARD

Genetic and Rare Diseases Info Center

GARD:18499

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

oocyte maturation defect 9

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications