Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

16 matching diseasesClear search ×

Paternal uniparental disomy of chromosome 21 syndrome

UPD(21)pat

ORPHA:96195

Angelman syndrome due to paternal uniparental disomy of chromosome 15

UPD(15)pat

ORPHA:98795

Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11

Mosaic paternal uniparental disomy of chromosome 11 · UPD(11)pat

ORPHA:96193

Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14

UPD(14)pat

ORPHA:96334

Maternal uniparental disomy of chromosome 2 syndrome

UPD(2)mat

ORPHA:96179

Maternal uniparental disomy of chromosome 20 syndrome

UPD(20)mat · Maternal UPD(20)

ORPHA:96186

Maternal uniparental disomy of chromosome 21 syndrome

UPD(21)mat

ORPHA:96187

Maternal uniparental disomy of chromosome 22 syndrome

UPD(22)mat

ORPHA:96188

OBSOLETE: Uniparental disomy of chromosome 21

OBSOLETE: UPD(21)

ORPHA:263064

Paternal uniparental disomy of chromosome 1 syndrome

UPD(1)pat

ORPHA:251004

Paternal uniparental disomy of chromosome 13 syndrome

UPD(13)pat

ORPHA:99324

Paternal uniparental disomy of chromosome 20 syndrome

UPD(20)pat · Paternal UPD(20)

ORPHA:96194

Paternal uniparental disomy of chromosome 5 syndrome

UPD(5)pat

ORPHA:96190

Paternal uniparental disomy of chromosome 6 syndrome

UPD(6)pat

ORPHA:96191

Paternal uniparental disomy of chromosome 7 syndrome

UPD(7)pat

ORPHA:96192

Paternal uniparental disomy of chromosome X syndrome

UPD(X)pat

ORPHA:261524