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"

17 matching diseasesClear search ×

Maternal uniparental disomy of chromosome 2 syndrome

UPD(2)mat

ORPHA:96179

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

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

Maternal uniparental disomy of chromosome 4 syndrome

UPD(4)mat

ORPHA:96180

Maternal uniparental disomy of chromosome 6 syndrome

UPD(6)mat

ORPHA:96181

Maternal uniparental disomy of chromosome 9 syndrome

UPD(9)mat

ORPHA:96183

Maternal uniparental disomy of chromosome X syndrome

UPD(X)mat

ORPHA:261519

Multifocal atrial tachycardia

Chaotic atrial tachycardia · MAT

ORPHA:3282

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

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

UPD(11)mat

ORPHA:231147

Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7

UPD(7)mat

ORPHA:96182

Temple syndrome due to maternal uniparental disomy of chromosome 14

UPD(14)mat

ORPHA:96184