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vaginal atresia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

vaginal atresia

MONDO:0019007

Overview

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Vaginal atresia; and common findings: Abnormality of the uterus, Primary amenorrhea, Abdominal pain, and Imperforate hymen and others. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	2	Abdominal pain, Abdominal mass

Diagnosis

Biomarker and diagnostic research for vaginal atresia has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 6 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 vaginal atresia.

28 publications have been identified in PubMed for vaginal atresia. Research spans Case Report / Case Series (57%), Review / Meta-Analysis (14%), and Other (11%).

Research Type	Count	% of Total
Patient case studies	16	57%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:46 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:65681

GARD

Genetic and Rare Diseases Info Center

GARD:18867

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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Kisho

vaginal atresia

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

vaginal atresia

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications