uniparental disomy
MONDO:0700086Mondo
Findings
No curated finding names uniparental disomy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders.
Definition from the Mondo Disease Ontology (MONDO:0700086), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
- Narrower terms (27)
- Angelman syndrome due to paternal uniparental disomy of chromosome 15
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
- maternal uniparental disomy of chromosome 1
- maternal uniparental disomy of chromosome 13
- maternal uniparental disomy of chromosome 14
- maternal uniparental disomy of chromosome 16
- maternal uniparental disomy of chromosome 2
- maternal uniparental disomy of chromosome 20
- maternal uniparental disomy of chromosome 21
- maternal uniparental disomy of chromosome 22
- maternal uniparental disomy of chromosome 4
- maternal uniparental disomy of chromosome 6
- maternal uniparental disomy of chromosome 9
- maternal uniparental disomy of chromosome X
- mosaic genome-wide paternal uniparental disomy
- paternal uniparental disomy of chromosome 1
- paternal uniparental disomy of chromosome 13
- paternal uniparental disomy of chromosome 14
- paternal uniparental disomy of chromosome 20
- paternal uniparental disomy of chromosome 21
- paternal uniparental disomy of chromosome 5
- paternal uniparental disomy of chromosome 6
- paternal uniparental disomy of chromosome 7
- paternal uniparental disomy of chromosome X
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
- silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
- silver-Russell syndrome due to maternal uniparental disomy of chromosome 7