Mosaic trisomy 6

Summary

Mosaic trisomy 6 (MONDO:0043277) is a disease. A subtype of chromosome 6 disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	mosaic trisomy 6
Mondo ID	MONDO:0043277
NCIT	C36475
SNOMED CT	205647005
UMLS	C0432414
MedGen	96603
GARD	0007815
Is cancer (heuristic)	no

Also known as: trisomy 6 mosaicism

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › autosomal anomaly › chromosome 6 disorder › mosaic trisomy 6

Related subtypes (5): ring chromosome 6, partial deletion of chromosome 6, partial duplication of chromosome 6, maternal uniparental disomy of chromosome 6, paternal uniparental disomy of chromosome 6

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.