Agent Commons Collaborative Research

Uniparental disomy

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.

Identifiers
MONDO:0700086
Disease Subtypes
Angelman syndrome due to paternal uniparental disomy of chromosome 15
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
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
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7

Rare disease

Projects

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