Maternal uniparental disomy of chromosome 16
diseaseOn this page
Also known as maternal uniparental disomy of chromosome type 16UPD(16)mat
Summary
Maternal uniparental disomy of chromosome 16 (MONDO:0019916) is a disease. A subtype of chromosome 16 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 | maternal uniparental disomy of chromosome 16 |
| Mondo ID | MONDO:0019916 |
| Orphanet | 96185 |
| ICD-11 | 635736420 |
| UMLS | C4750769 |
| MedGen | 1650997 |
| GARD | 0019336 |
| Is cancer (heuristic) | no |
Also known as: maternal uniparental disomy of chromosome type 16 · UPD(16)mat
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › autosomal anomaly › chromosome 16 disorder › maternal uniparental disomy of chromosome 16
Related subtypes (5): chromosome 16 inversion, 0.45-Mb, partial deletion of chromosome 16, partial duplication of chromosome 16, ring chromosome 16, chromosome 16 trisomy
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.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.