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autosomal anomaly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal anomaly

MONDO:0020049

Also known as:autosome chromosomal anomalychromosomal anomaly of autosome

Overview

Chromosomal disorder in which the chromosomal anomaly involves an autosome.

Diagnosis

Biomarker and diagnostic research for autosomal anomaly has been reported in the published literature.

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 autosomal anomaly.

154 publications have been identified in PubMed for autosomal anomaly. Research spans Case Report / Case Series (30%), Basic Science / Preclinical (28%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Patient case studies	46	30%

Data assembled from 3 of 12 sources · Last updated Oct 3, 2026, 5:08 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:98127

GARD

Genetic and Rare Diseases Info Center

GARD:19417

Questions for Your Care Team

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autosomal anomaly

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications