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

mosaic monosomy X - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mosaic monosomy X

MONDO:0020467

Also known as:Mosaic Turner syndromeMosaic monosomy type XXX/XO

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 very common findings: Abnormality of the ovary, Short neck, Delayed puberty, and Increased circulating gonadotropin level and others; and common findings: Hypoplastic toenails, Glucose intolerance, Low posterior hairline, and High, narrow palate and others. 100 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	9	Excessive outward curvature of the upper spine (kyphosis), Enlargement of the distal femoral epiphysis, Mild bone density loss (osteopenia)

Diagnosis

Biomarker and diagnostic research for mosaic monosomy X has been reported in the published literature.

Prognosis

Phenotype severity distribution: 21 very common features, 37 common features.

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 mosaic monosomy X.

47 publications have been identified in PubMed for mosaic monosomy X. Research spans Case Report / Case Series (30%), Basic Science / Preclinical (26%), and Diagnostic / Biomarker (19%).

Research Type	Count	% of Total
Patient case studies	14	30%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:99228

GARD

Genetic and Rare Diseases Info Center

GARD:19677

Questions for Your Care Team

→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

Kisho

mosaic monosomy X

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

mosaic monosomy X

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