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 1 syndrome

UPD(1)pat

ORPHA:251004

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 1 syndrome

UPD(1)mat

ORPHA:251009

Maternal uniparental disomy of chromosome 13 syndrome

UPD(13)mat

ORPHA:97678

Maternal uniparental disomy of chromosome 16 syndrome

UPD(16)mat

ORPHA:96185

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 21 syndrome

UPD(21)pat

ORPHA:96195

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

Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11

UPD(11)mat

ORPHA:231147

Temple syndrome due to maternal uniparental disomy of chromosome 14

UPD(14)mat

ORPHA:96184